My child was seen by a geneticist years ago, should I ask to be seen again?

Genomic microarray

Genomic microarray (Array-CGH) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes. This means it looks for where there are deletions (bits missing) or duplications (where there are extra bits) in your DNA that would not be identified using conventional microscopy-based chromosome analysis (Karyotype). Such tests are now becoming more widely available in the NHS.

Many children with developmental delay who have had a ‘normal’ result from a microscopy-based chromosome analysis (Karyotype) in the past have, after consultation with their parents, been retested using genomic micro array analysis. A number of these children have been found to have a microdeletion or microduplication therefore offering the family an explanation for their child’s problems.

http://undiagnosed.org.uk/information-and-resources/how-can-i-get-a-diagnosis-for-my-child

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DiGeorge syndrome

22q11.2 deletion syndrome

DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems. Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.

 The number and severity of symptoms associated with DiGeorge syndrome vary greatly. However, almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.

Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, CATCH22 and others. Although the term “22q11.2 deletion syndrome” is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.

Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.

 Signs and symptoms may include some combination of the following:

http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/symptoms/con-20031464

DiGeorge Syndrome (22q11.2 deletion Syndrome, Velocardiofacial Syndrome)

 

http://genetics4medics.com/digeorge-syndrome.html

Digeorge syndrome – You Tube Video very intresting

https://www.youtube.com/watch?v=a3yjnjB-Vpc?rel=0

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De novo GLI3 mutation in esophageal atresia

Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCNSOX2CHD7GLI3,FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy number variation analysis was performed using Affymetrix SNP 6.0. We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332 T > C, p.M111T) in a patient with esophageal atresia and hemivertebrae. The N-terminal region (amino acids 1–397) of GLI3 contains the repressor domain, which interacts with SKI family proteins. Using the co-immunoprecipitation assay, we found that interaction of GLI3 with the SKI family protein SKIL was significantly compromised by the p.M111T mutation ofGLI3. Thus far, all the identified mutations mapped within the repressor domain of GLI3were nonsense and frame-shift mutations. In this study, a missense mutation was initially detected in this region. Our finding is the first to link this GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model.

Esophageal atresia (EA) is a developmental defect of the upper gastrointestinal tract in which the continuity between the upper and lower esophagus is lost. Esophageal atresia with or without tracheo-esophageal fistula (TEF) is a rare malformation, occurring in approximately 1 in 3500 births. Although the underlying molecular mechanism remains obscure in most patients with EA/TEF, it has been associated with a wide spectrum of genetic syndromes caused by genetic alterations including mutations in single genes or chromosome aberrations.

Approximately 6% to 10% of syndromic EA/TEF is associated with chromosomal anomalies. The majority is represented by trisomies (trisomy 13, 18, 21) and or microdeletions of 22q11, 17q22–17q23.3 and 16q24.1. Meanwhile, mutations of MYCNSOX2 and CDH7 have also been reported to be responsible for syndromic EA, such as Feingold syndrome, AEG syndrome (Anophthalmia-esophageal–genital syndrome) and CHARGE association (coloboma, heart anomaly, choanal atresia, retardation, and genital and ear anomalies). Deletions and mutations in the GLI3 andFGFR2 genes are responsible for Pallister–Hall syndrome and Apert syndrome, respectively, in which EA is infrequently reported and  in rare cases, mutations in PTEN have been reported in the VATER association (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia).

In this study, we searched for sequence variants in the protein-coding regions of the human MYCNSOX2CHD7GLI3FGFR2 and PTEN genes by PCR-based target enrichment followed by next-generation sequencing using the Ion Torrent Personal Genome Machine™ (PGMTM, Life Technologies, Carlsbad, CA). We also analyzed genomic copy number variants (CNVs) in 27 patients with EA/TEF. We found a de novoheterozygous mutation in the N-terminal region of the GLI3 gene (c.332 T > C, p.M111T). Our finding is the first to link the GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model.

CHARGE and VACTERL

Find on this page

 Feingold Syndrome ALSO found on this website

Also found on this page

https://ghr.nlm.nih.gov/condition/feingold-syndrome

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http://www.sciencedirect.com/science/article/pii/S0925443914001288

AEG syndrome

http://disorders.eyes.arizona.edu/category/alternate-names/aeg-syndrome

Anophthalmia-esophageal–genital syndrome

https://search.yahoo.com/search?p=(anophthalmia-esophageal%E2%80%93genital+s%C3%ADndrome&fr=yset_chr_syc_oracle&type=orcl_default

Choanal Atresia

http://www.nytimes.com/health/guides/disease/choanal-atresia/overview.html

Pallister–Hall syndrome

https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome

Apert syndrome

https://ghr.nlm.nih.gov/condition/apert-syndrome

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VACTERL - CHARGE

Deafness in Children

I was asked by a few Parent’s if we could cover Deafness in Children, so I went off looking for help in this matter, what I have found has got to be one of the Best all round help websites that also has links overseas, in other parts of the world, and for me well worth a place here on our website.

About the National Deaf Children’s Society

The National Deaf Children’s Society is the leading charity dedicated to creating a world without barriers for deaf children and young people. We have offices in London, Birmingham, Belfast, Cardiff and Glasgow.

http://deafchildworldwide.info/

This is our international development wing. It’s the only UK-based international development agency dedicated to enabling deaf children to overcome poverty and isolation.

NDCS has a number of resources that are suitable for parents of deaf children aged 0 to 4.

http://www.ndcs.org.uk/family_support/0_to_4_years/

Suitable for parents of deaf children aged 5 to 10. 

http://www.ndcs.org.uk/family_support/5_to_10_years/

 Their Resources

This section is for professionals working with deaf children. Download our resources for professionals working with deaf children and young people.

http://www.ndcs.org.uk/professional_support/index.html

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Congenital Atresia & Microtia of the Ear

Congenital Atresia, the absence of the external ear canal, is a birth defect which is almost always accompanied by abnormalities of both the middle ear bones in various degrees, as well as the external ear. When it occurs in both the newborn’s ears, the pediatrician must readily refer the child to both a facial plastic surgeon and an ear surgeon, as well as an audiologic team.

The degree of hearing loss brought about by the atresia must be evaluated immediately. If both ears are affected, early hearing aid fitting is called for. Using a bone type of hearing aid which bypasses the obstruction, vibration on the bone allows for the normal development of speech in the child.

Congenital Microtia, also a birth defect, is an abnormal condition in the growth of the external ear. These are classified by degree. They can vary from minor abnormalities of the helical ear folds to a marked absence of ear development. The presence of a small tag of skin and cartilage may be the only indication of an external ear.

The Congenital Ear

Repair of congenital microtia requires the coordinated efforts of both facial plastic surgeon and ear surgeon. Reconstruction of the microtic ear is usually delayed until the child is four to five years old. At that age, cartilage from the rib is used to reconstruct the external ear. Several operations may be necessary. The ear surgeon will usually delay reconstruction of the external auditory canal, (i.e. correction of the atresia), until the initial phases of the microtia repair are completed.

Microtia does not always occur along with atresia. Isolated atresia can occur in an ear which appears normal. Microtia repair falls under the province of the facial plastic surgeon, so a complete explanation of this surgery will not be offered here. Microtia is a most obvious abnormality. Any child with microtia should be seen early by an ear surgeon in order to coordinate the procedure between the facial plastic surgeon and ear surgeon. In addition, testing for hearing in both ears is indicated early, using Brain Stem Evoked Response Audiometry. This testing must be done early to determine the adequacy of hearing in the “normal” ear, as well as to confirm whether it is really normal.

Congenital Atresia

Congenital artesia can occur without the usual congenital abnormalities of the external ear. Classically, however, atresias occur in conjunction with some deformity or microtia. The degree of microtia or external deformity does not always indicate the degree of abnormalities of the middle ear. A rough estimate of the degree of middle ear abnormalities can usually be made based on the degree of microtia, because both the external ear and the ear canal and bones of hearing occur in pregnancy at about the same time. The ear surgeon should be consulted early, although a commitment for a surgical procedure for correction of the child’s atresia usually need not take place until the child is four or five years old.

Summary

Over the past 40 years, correction of microtia and atresia of the ear has become an increasingly successful reality for children born with this birth defect. Cases should be chosen appropriately and selectively. CT Scanning is extremely important in the accurate assessment of the development of the middle ear space. If the middle ear space is totally or almost completely absent, then surgery is usually not advisable. Alternative procedures such as implantable bone conduction hearing aids have been found to be an excellent option as well.

For full page click below

http://www.earsurgery.org/conditions/congenital-atresia/

What are the different types of Microtia?

Microtia occurs in many different variations, ranging from just a small ear to complete absence of the ear, called anotia meaning “no ear.”  In some cases, the ear canal is very small (aural stenosis) or absent (aural atresia).

 

How Common is Microtia?

Microtia occurs about once in every 6,000 to 12,000 births, with a higher frequency among Hispanics, Asians, Native Americans, and Andeans.

http://microtiaearsurgery.com/microtia-atresia-conferences-2016

http://earcommunity.com/microtiaatresia/

https://www.facebook.com/Microtia-and-Atresia-Support-Group-118851728152174/

Make Communication the Focus for Parents of Children Newly Identified With Hearing Loss

“The most important role for the family of an infant who is deaf or hard of hearing is to love, nurture and communicate with the infant.” –Joint Committee on Infant Hearing

Parents of children newly identified with hearing loss—especially infants identified at birth—must deal with the diagnosis, follow-up care and amplification recommendations. Eventually, they realize they need to use an alternate method of communication with their child. They probably turn first to their pediatric audiologist. As the family goes through the process of additional tests, confirming hearing levels and picking out hearing aid(s) or cochlear implant(s), the audiologist also usually provides counseling on communication options.

http://blog.asha.org/2016/05/03/just-communicate/#comments

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Craniofacial Microsomia

Click on the RED Writing for photo’s

Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.

People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common incraniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.

Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.

Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

For a LOT more INFO click Below

https://ghr.nlm.nih.gov/condition/craniofacial-microsomia#

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PLUS

Auditory Neuropathy

What is auditory neuropathy?

Auditory neuropathy is a hearing disorder in which sound enters the inner ear normally but the transmission of signals from the inner ear to the brain is impaired. It can affect people of all ages, from infancy through adulthood. The number of people affected by auditory neuropathy is not known, but the condition affects a relatively small percentage of people who are deaf or hearing-impaired.

People with auditory neuropathy may have normal hearing, or hearing loss ranging from mild to severe; they always have poor speech-perception abilities, meaning they have trouble understanding speech clearly. Often, speech perception is worse than would be predicted by the degree of hearing loss. For example, a person with auditory neuropathy may be able to hear sounds, but would still have difficulty recognising spoken words. Sounds may fade in and out for these individuals and seem out of sync.

http://www.nidcd.nih.gov/health/hearing/pages/neuropathy.aspx

Making connections – what causes auditory neuropathy?

Posted on: Wednesday, December 4, 2013, by James robins

Auditory neuropathy is a hearing disorder which causes people to experience hearing loss as well as difficulties distinguishing speech from other sounds. The underlying causes of auditory neuropathy are still unknown, however recent research has offered up some clues which may lead to a better understanding of the disorder.

Tracey Pollard, from our Biomedical Research team, tells us more about this research and its potential in developing future treatments for auditory neuropathy.

http://www.actiononhearingloss.org.uk/community/blogs/our-guest-blog/making-connections-what-causes-auditory-neuropathy.aspx

https://www.facebook.com/Auditory-Neuropathy-199866997029351/    I Have found a facebook group dealing with this to

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ipsea-logo-retina

Our Tribunal Helpline gives free and independent legally based advice about appeals to the Special Educational Needs and Disability Tribunal.

This service provides information on the law and what it allows you to do.

Under the Children and Families Act 2014, which brings in the new document to replace statements, an Education, Health and Care plan (“EHC plan”), we are no longer just looking at the difference between educational and non-educational provision. In addition to special educational provision, the Children and Families Act 2014 refers to health care provision and social care provision.

A child or young person is disabled under the Equality Act 2010 (section 6) if they have a physical or mental impairment which has a substantial and long-term adverse effect on their ability to carry out normal day-to-day activities. This is actually a low test to meet as “substantial” means more than minor or trivial and “long term” means lasting more than one year or likely to last more than one year.

 For more info on this go to our other page

http://www.birth-defect.org/being-helpful/

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LOOK PLEASE READ

Panic sets in when your child pulls their feeding tube out, but we might have found something to help you, with a 15% discount on your FIRST ORDER

http://www.birth-defect.org/other-shops/

PJs_logo

Go look on the page above.

ear defenders

Ear Defenders Noise Limiters

I have put this here because these are what my own daughter uses, as she hates noise, and something like this, above has changed our life’s. It now allows us to go out into the world. We got ours from Amazon. They go from child to adults and come in many colours. CLICK on the > bottom left corner to make bigger.

Also found on eBay

http://www.amazon.co.uk/dp/B00CBDJ84S?psc=1

http://www.amazon.co.uk/s/ref=nb_sb_ss_c_0_9?url=search-alias%3Daps&field-keywords=kids%20ear%20defenders&sprefix=Kids+Ear+%2Caps%2C145&rh=i%3Aaps%2Ck%3Akids%20ear%20defenders&oqid=1446925262

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Picture Exchange Communication Keyring

We used these with our own Daughter before she could talk. A simple idea that worked for us.

q cards

http://www.amazon.co.uk/BSL-for-Kids/b/ref=bl_dp_s_web_1798236031?ie=UTF8&node=1798236031&field-lbr_brands_browse-bin=BSL+for+Kids

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Hello I just wanted to say a massive ” THANK YOU” for creating this wonderful product. My son was diagnosed with Sensory Processing Disorder and as such is highly sensitive to smells and tastes.

Won’t to know more? Look under Teeth.

http://www.birth-defect.org/reflux/

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The below website is run by a Mother of a Vactrel child

vacterl

http://repurpurse.wix.com/maddieshands

Vacter syndrome

Vacterl association is was known to many Vacter syndrome until fairly recently Vacterl is not a singular condition, it is a non random collective/association of birth defects which can occur together in one person. People with 3 or more of the associations will be classed as having the Vacterl association. Approximately 1 in 40,000 people are affected by this association however there is great variety to the impacts it may have.

V = Vertebrae (affecting the bones of the spine in some way and the possibility of the spinal cord being tethered)
A = Anal Atresia ( either no opening of the anus, narrowing of the anus, most of the time with genitourinary anomalies)
C = Cardiac defects ( life threatening to minor murmurs)
TE = Tracheo-Esophageal Fistula and/or Atresia
R = Renal/ kidney anomalies or radial ( can be born with one kidney to function in kidneys being poor) Radial ( missing the radius in either one or both arms)
L = Limb anomalies ( can be born with each thumbs, toes and fingers or without them)

What is VACTERL association?

VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.

ghr.nlm.nih.gov/condition/vacterl-association

In the passed it was also known as VATER

There are no specific genetic or chromosome defects connected with Vacterl association. Links to Klippel fiel and Goldenhar Syndrome, trisomy 18 and diabetic mothers have been proposed, however at present the origin of the association is unknown. It is very rare to see more than one occurrence within one family. Many children born with the condition are small and have issues with gaining weight, however they do tend to have normal development and normal intelligence.

Other Defects with VACTERL Association
Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed.

About 70 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest X-ray may alert the physician to other defects associated with VACTERL.

Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Esophageal atresia with tracheoesophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect.

Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a VSD, which may not require any surgery.

Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two) which can often be associated with kidney or urologic problems.

These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder.

These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limb defects occur in up to 70 percent of babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects.

Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

Many babies with VACTERL are born small and have difficulty gaining weight. However, they tend to have normal development and intelligence.

USA SUPPORT GROUP VACTERL

https://www.facebook.com/The-VACTERL-Network-100886269856/?fref=nf

https://www.facebook.com/thevacterlparent

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The Pediatric Bowel Management Program

Imperforate anus 

Hirchsprung’s disease 

Spinal defects    

Severe constipation with out known cause (idiopathic constipation)                                                                                                                                                                                                                             

http://www.winthrop.org/pediatric-bowel-management-program

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 RELATED DISORDERS –  Tethered Spinal Cord

Watch Mark Proctor, MD explain Tethered Spinal cord syndrome in this VIDEO from Boston Children’s Hospital USA.

http://www.childrenshospital.org/centers-and-services/tethered-spinal-cord-program

Tethered cord can cause urinary urgency, urinary and/or stool incontinence, difficulty starting the urinary stream, constipation, diarrhea, difficulty standing more than 60 minutes, low back pain, leg pain, numbness in the soles of the feet, difficulty riding or driving a car and severe growing pains during childhood and adolescence. It can also result in scoliosis. The relation of tethered cord to elongation of the brainstem in some persons with Chiari I Malformation is currently under investigation

http://chiaricare.com/related-disorders/tethered-spinal-cord.aspx

What is a tethered cord?

Tethered-Spinal-Cord-in-Infants.png

The “cord” in “tethered cord” is the spinal cord. The spinal cord is the bundle of nerves that carries messages between the brain and the body.

Before a baby is born, the spinal cord is normally the same length as the bones that surround it. These bones are called the spinal column. As the baby grows, the spinal column gets longer than the spinal cord. This means the spinal cord has to be able to move freely inside the spinal column. But in some babies, the bottom end (tail) of the spinal cord is “tethered” or tied down to the bottom end of the spinal column. This is called tethered cord.

Tethered cord means the spinal cord cannot move inside the spinal column. As the child grows taller, the spinal cord is stretched. If the nerves are stretched, they may not work properly, and this can cause problems for your child. Your child may need an operation to help the spinal cord move freely.

For more info and Photo’s click here

The information on this page will help you explain tethered cord to your child, using words your child can understand.

http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/BrainandNervousSystemDisorders/Pages/Tethered-Cord.aspx

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We use custom prosthetic technology to help rebuild lives. Northern Prosthetics is a clinic that replaces limbs, facial features, hands, feet and other missing body parts with custom prosthetics and silicone restoration. Our mission is to transform people’s lives – helping them walk, run, hold their heads high and be free to really live again.

We combine technological innovation with anatomical design and medical science to create beautiful, functional prosthetics.  Our technicians are master craftsmen in field of contemporary prosthetic manufacture. We collaborate closely with each patient, for customised, personal results.
ear 2
ear
This is the things to come, how far we have come since my grandfather lost his leg in WWII it was hollow and one of the first.
This is Only to give you guys an idea of what can be done. x
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Complete Currarino Triad, also known as Currarino syndrome

Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). The Currarino triad is a hereditary transmitted syndrome, originally defined by Currarino as ASP-association, consisting of an anorectal malformation, a sacral bony defect and a presacral mass.

In most cases autosomal dominant transmission is suggested. In family members one or two features of the syndrome may be missing, indicating an incomplete form of this complex. We describe two unrelated girls at the age of 8 and 9 months respectively with ASP-association. Family screening in both patients showed 8 additional cases with a complete or incomplete Currarino triad, four of them being asymptomatic. A review of the literature up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this complex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%).

The number of patients with Currarino syndrome has been underestimated so far. We recommend anorectal examination, pelvic ultrasound and pelvic x-rays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations such as barium enema, MRI, mythography and family screening. Close cooperation between pediatric surgeons and neurosurgeons is required to ensure adequate surgical treatment, considering both the risk of malignant degeneration as well as the risk of intraoperative nerve damage. Thus, radical excisional surgery is not obligatory in every case of Currarino syndrome.

For more in depth info click here  

atlasgeneticsoncology.org/Kprones/CurrarinoID10082.html

www.medscape.com/viewarticle/727454_2

Power in the eye of the beholder

A breakthrough technology is helping non-verbal Perkins students use their limited vision to communicate.

She does it with eye gaze technology. It uses a small video camera to track Emily’s eye movements, allowing her to control a computer cursor simply by looking at it. Originally developed for adults with spinal cord injuries, eye gaze technology is proving equally useful in the classroom at Perkins School for the Blind.

www.perkins.org/stories/blog/power-in-the-eye-of-the-beholder

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C-Pap Masks for Children: C-Pap and BiPap Mask Review

C-Pap Masks for Small Children

C-Pap therapy on a very young child is difficult: the majority of masks on the market are designed for adults. Many popular masks designed for children are engineered for kids over the age of seven: this leaves parents of preschoolers in a bind when C-Pap therapy is ordered for very young children.

Our four year old son is small for his age, and requires the use of C-Pap therapy to treat obstructive sleep apnea. We had a very difficult time finding an appropriate mask for him. The “petite” adult masks did not fit his face, and one of the small children’s nasal masks would end up wound around his neck at night.

He has tried to use nasal pillows (which fit into the nostrils), but could not tolerate the feeling of the prongs up his nose. He sometimes uses the nasal mask style, though he has chronic congestion which limits the usefulness of the nasal masks. The best pediatric C-Pap mask we have found so far is a full-face mask which allows him to breathe freely, even when congested.

There are three pediatric C-Pap masks that fit his tiny face:

http://hubpages.com/health/C-Pap-Masks-for-Children-C-Pap-and-BiPap-Mask-Review

My child was seen by a geneticist years ago, should I ask to be seen again?

Genomic microarray

Genomic microarray (Array-CGH) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes. This means it looks for where there are deletions (bits missing) or duplications (where there are extra bits) in your DNA that would not be identified using conventional microscopy-based chromosome analysis (Karyotype). Such tests are now becoming more widely available in the NHS.

Many children with developmental delay who have had a ‘normal’ result from a microscopy-based chromosome analysis (Karyotype) in the past have, after consultation with their parents, been retested using genomic micro array analysis. A number of these children have been found to have a microdeletion or microduplication therefore offering the family an explanation for their child’s problems.

http://undiagnosed.org.uk/information-and-resources/how-can-i-get-a-diagnosis-for-my-child

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DiGeorge syndrome

22q11.2 deletion syndrome

DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems. Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.

 The number and severity of symptoms associated with DiGeorge syndrome vary greatly. However, almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.

Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, CATCH22 and others. Although the term “22q11.2 deletion syndrome” is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.

Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.

 Signs and symptoms may include some combination of the following:

http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/symptoms/con-20031464

DiGeorge Syndrome (22q11.2 deletion Syndrome, Velocardiofacial Syndrome)

 

http://genetics4medics.com/digeorge-syndrome.html

Digeorge syndrome – You Tube Video very intresting

https://www.youtube.com/watch?v=a3yjnjB-Vpc?rel=0

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De novo GLI3 mutation in esophageal atresia

Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCNSOX2CHD7GLI3,FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy number variation analysis was performed using Affymetrix SNP 6.0. We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332 T > C, p.M111T) in a patient with esophageal atresia and hemivertebrae. The N-terminal region (amino acids 1–397) of GLI3 contains the repressor domain, which interacts with SKI family proteins. Using the co-immunoprecipitation assay, we found that interaction of GLI3 with the SKI family protein SKIL was significantly compromised by the p.M111T mutation ofGLI3. Thus far, all the identified mutations mapped within the repressor domain of GLI3were nonsense and frame-shift mutations. In this study, a missense mutation was initially detected in this region. Our finding is the first to link this GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model.

Esophageal atresia (EA) is a developmental defect of the upper gastrointestinal tract in which the continuity between the upper and lower esophagus is lost. Esophageal atresia with or without tracheo-esophageal fistula (TEF) is a rare malformation, occurring in approximately 1 in 3500 births. Although the underlying molecular mechanism remains obscure in most patients with EA/TEF, it has been associated with a wide spectrum of genetic syndromes caused by genetic alterations including mutations in single genes or chromosome aberrations.

Approximately 6% to 10% of syndromic EA/TEF is associated with chromosomal anomalies. The majority is represented by trisomies (trisomy 13, 18, 21) and or microdeletions of 22q11, 17q22–17q23.3 and 16q24.1. Meanwhile, mutations of MYCNSOX2 and CDH7 have also been reported to be responsible for syndromic EA, such as Feingold syndrome, AEG syndrome (Anophthalmia-esophageal–genital syndrome) and CHARGE association (coloboma, heart anomaly, choanal atresia, retardation, and genital and ear anomalies). Deletions and mutations in the GLI3 andFGFR2 genes are responsible for Pallister–Hall syndrome and Apert syndrome, respectively, in which EA is infrequently reported and  in rare cases, mutations in PTEN have been reported in the VATER association (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia).

In this study, we searched for sequence variants in the protein-coding regions of the human MYCNSOX2CHD7GLI3FGFR2 and PTEN genes by PCR-based target enrichment followed by next-generation sequencing using the Ion Torrent Personal Genome Machine™ (PGMTM, Life Technologies, Carlsbad, CA). We also analyzed genomic copy number variants (CNVs) in 27 patients with EA/TEF. We found a de novoheterozygous mutation in the N-terminal region of the GLI3 gene (c.332 T > C, p.M111T). Our finding is the first to link the GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model.

CHARGE and VACTERL

Find on this page

 Feingold Syndrome ALSO found on this website

Also found on this page

https://ghr.nlm.nih.gov/condition/feingold-syndrome

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http://www.sciencedirect.com/science/article/pii/S0925443914001288

AEG syndrome

http://disorders.eyes.arizona.edu/category/alternate-names/aeg-syndrome

Anophthalmia-esophageal–genital syndrome

https://search.yahoo.com/search?p=(anophthalmia-esophageal%E2%80%93genital+s%C3%ADndrome&fr=yset_chr_syc_oracle&type=orcl_default

Choanal Atresia

http://www.nytimes.com/health/guides/disease/choanal-atresia/overview.html

Pallister–Hall syndrome

https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome

Apert syndrome

https://ghr.nlm.nih.gov/condition/apert-syndrome

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CHARGE

received_852131874829222_resized

 In loving memory of our Son, Harry, we launched Harry’s foundation in October 2014. We have so far raised £7500. Thorough donations fund raising events, sponsored events.

We supply care packages to families with children who have newly been diagnosed with CHARGE syndrome.
We raise awareness from selling pens and badges. We also have leaflets about the condition in doctors and hospitals. We also will provide them to anyone who requests them.

We also help 4 other charities by donating the money we raise. They are Birmingham children’s hospital, National Deaf Children Society, Charge Syndrome foundation and Ronald McDonald house charities.

Our website is:….. www.Harrysfoundation.co.uk

But we only really use our Facebook page Harry’s Foundation

1160936 is our registered charity number.
Harry’s foundations aim is: Providing information and support to families when their child has been diagnosed with CHARGE Syndrome and to raise awareness

Debbie X

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Also

logo

Look here 

A Better World for People with CHARGE Syndrome

http://www.chargesyndrome.org/

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LOOK PLEASE READ

Panic sets in when your child pulls their feeding tube out, but we might have found something to help you, with a 15% discount on your FIRST ORDER

http://www.birth-defect.org/other-shops/

PJs_logo

Go look on the page above.

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C = Coloboma (parts of the eyes do not develop)

H = Heart

A = Atresia Choanae (parts of the nose do not develop)

R = Retarded growth and development

G = Genital

E = Ears

ghr.nlm.nih.gov/condition/charge-syndrome

WATCH THIS VIDEO IT TELLS YOU AND SHOWS YOU WHAT THIS CONDITION IT ABOUT

www.youtube.com/watch?v=PeExdo3tdCI

CHARGE syndrome  is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.

Continued research is needed to help us understand the medical and developmental challenges facing individuals with CHARGE. Better understanding will lead the way to interventions, therapies and educational strategies which can help people with CHARGE syndrome overcome many of the obstacles in their lives.

One of the hidden features of CHARGE syndrome is the determination and strong character these children display.

History of the name “CHARGE”

The name “CHARGE” was a clever way (in 1981) to refer to a newly recognized cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is indeed a syndrome and at least one gene causing CHARGE syndrome has been discovered (see below). The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we’re not changing the name.

Clinical Diagnostic Criteria (2005)

Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn’t perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical – based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes.

They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are “Other” features – these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

What else can look like CHARGE (differential diagnosis)?

  • 22q deletion syndrome (aka VCFS, DiGeorge): can have many of the same medical features. However, the face, hands and ears look different. Special FISH test can diagnose 22q deletion
  • Kabuki syndrome: can have many of the same medical and behavioural features.  The eyes and fingertips are different and puberty is early in Kabuki syndrome.
  • VATER/VACTERL association can result in similar medical problems. The ears, face and hand do not look like CHARGE syndrome
  • Chromosome abnormalities. Some chromosome abnormalities can have features which overlap with CHARGE syndrome
  • Retinoic embryopathy: exposure to Accutane during pregnancy can produce similar ears and heart defects – other features are different
  • PAX2 mutations can cause colobomas, hearing loss and rare kidney problems

What causes CHARGE syndrome?

CHARGE syndrome is a genetic condition, caused by a change (mutation) in a single gene, most often CHD7. In August, 2004, the first major gene for CHARGE syndrome was reported by a group of researchers in the Netherlands. The gene is CHD7, located on the long arm of chromosome #8. It is a regulatory gene which plays a role in turning other genes on and off. Changes (mutations) in this gene have been found in more than half of all children with CHARGE tested to date. In the vast majority, the mutation was new in the child – not detected in the parents. This confirms that CHARGE syndrome is a genetic condition caused by a new mutation in a dominant gene. Further research is needed to find other genes that can cause CHARGE and to determine the function of the CHARGE genes in the developing fetas, babies, children and adults.

CHD7 gene in CHARGE

www.nature.com/gim/journal/v9/n10/full/gim2007103a.html


Can you have another child with CHARGE syndrome?

It is possible, but not likely. The empiric risk of re occurrence is at most 1-2%. That means if you have one child with CHARGE, there is a maximum 1-2% chance of the next child also having CHARGE. Prenatal diagnosis may be available if a CHD7 mutation can be found in your affected child. The risk to children of individuals with CHARGE is probably 50%.

CHARGE syndrome

CHARGE syndrome is a condition where a number of symptoms are seen together – the name CHARGE is made from the initials of the main symptoms of the condition. CHARGE syndrome is a rare condition affecting around one in every 10,000 births. It can also be called CHARGE association, because of the group of symptoms associated with each other, but this term tends not to be used these days.

What causes CHARGE syndrome?

CHARGE syndrome can be caused by a mutation (change) in a particular gene, usually the CHD7 gene.  Around half of all children with CHARGE syndrome have this gene mutation. Although CHARGE is a genetic condition, it is not usually passed on from parent to child – the gene mutation happens by chance.

What are the signs and symptoms of CHARGE syndrome?

The condition is called CHARGE as these are the initials of the main symptoms.

  • Coloboma of the eye – this is an eye problem where part of the eye did not develop properly in the womb. It looks a little like a keyhole and does not get any worse as the child grows older.
  • What is coloboma?
  • Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye.
  • They may appear as notches or gaps in one of the several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person’s vision.
  • Colobomas affecting the iris, which result in a “keyhole” appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.
  • .

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  • Madeleine-Mc
  •    This Little Girl has this condition to as seen on left side of this Photo. I used her Photo because many years ago this young girl was snatched from her parents while on Holiday, and to date has never been found, she is still missing.
  • Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.
  • People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development. 
  • How common is coloboma?Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.What is microphthalmia?
  • Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases, some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all.
    However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain.
    Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person’s vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body.

    These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

  • Heart defects – the heart defects affecting children with CHARGE syndrome vary in severity but can include ventricular septal defects and tetralogy of Fallot.
  • www.birth-defect.org/other-issues/
  • Atresia of the choanae – this is another condition present at birth where one or both of the openings at the back of the nose are blocked by bone or tissue. Choanal atresia causes breathing difficulties, as babies do not breathe properly through their mouth for the first few months.
  • Retardation of growth and/or development – children with CHARGE syndrome may not grow and develop at the same rate as other children their age. Often, they do not start puberty without additional hormone treatment.
  • Genital and/or urinary abnormalities – boys with CHARGE syndrome commonly have a small penis and/or undescended testicles. The inner lips of the vagina in girls with CHARGE syndrome may be very small.
  • Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set ears.

These symptoms are the most commonly seen in children with CHARGE syndrome but there can be other problems as well. A large proportion of children with CHARGE syndrome have some degree of learning disability but this can be variable. The facial features of children with CHARGE syndrome can be quite similar even though they are not related and include a small lower jaw and cleft lip and/or palate.

How is CHARGE syndrome diagnosed?

CHARGE syndrome is diagnosed by carrying out a full physical examination and noting that several of the main symptoms listed above are present. Other conditions can look similar to CHARGE syndrome so further diagnostic tests may be needed to narrow down the diagnosis. As CHARGE syndrome is quite rare, some children may not be diagnosed until early childhood when hearing problems and/or slow development become obvious.If a person has one child with CHARGE syndrome caused by the specific gene mutation, it is possible to offer prenatal (before birth) diagnosis. Unfortunately, if they do not have the gene mutation, prenatal diagnosis is not usually possible.The chance of having another child with CHARGE syndrome is thought to be between one and two per cent but further research is needed to confirm this.

How is CHARGE syndrome treated?

The initial treatment needed is to correct the choanal atresia and heart defect. Choanal atresia is repaired in an operation under general anaesthetic, which lasts about an hour. The surgeon will make a hole through the bone or tissue blocking the nasal passages.

Choanal atresia  www.nlm.nih.gov/medlineplus/ency/article/001642.htm

Repair of Choanal Atresia – Surgery Overview

Choanal atresia (say “KOH-uh-nul uh-TREE-zhuh”) is blockage by bone or tissue of the nasal passages (choana) leading from the back of the nose to the throat. The condition—present at birth in about 1 out of 7,000 babies—makes it impossible to breathe through the nose. Choanal atresia is diagnosed at birth when both passages are blocked. If only one passage is blocked, the diagnosis may be made later, usually, after you notice that mucus drains from only one of your baby’s nostrils.Repair involves surgery to reopen the nasal passages. Your baby may have a computed tomography (CT) scan,  a form of X-ray, before the repair to help the doctor confirm the diagnosis and plan the surgery.

www.webmd.com/hw-popup/ct-or-cat-scan

Your baby will receive general anesthesia for the operation. The surgeon can choose one of two approaches: inserting instruments through the nostrils (transnasal) or making an incision in the roof of the mouth (transpalatal). The doctor chooses the approach based on several things, including the anatomy of the nasal passages. The surgeon may prefer to operate through the nose if thin tissue blocks the nasal passages. He or she may prefer to do the surgery through the roof of the mouth if thick bone blocks the nasal passages.

www.webmd.com/hw-popup/general-anesthesia

In both approaches, the doctor stitches tubes called nasal stents into the passages to keep them open. After 6 or more weeks, the doctor removes the stents.

 Stent-Steps

(Stents are small expandable tubes used to treat narrowed or weakened arteries in the body)

stent

Heart defects will almost always need correction in an operation under general anaesthetic. When the operation takes place and what it involves depends on the heart defect present.  

More info on Hearts    www.birth-defect.org/other-issues/       

 

Children with a cleft lip and/or palate will also need an operation in early childhood to enable feeding and speech development.                                                                                                                                          

www.cdc.gov/ncbddd/birthdefects/cleftlip.html
Cleft-Palate-DiagramThe regular developmental screening will be suggested to monitor growth and development so that help to catch up with milestones can be offered as early as possible. As many children with CHARGE syndrome have learning disabilities and/or hearing impairment, they will need some support at school.

What happens next?

Children with CHARGE syndrome can expect to have a normal lifespan once the choanal atresia and heart defects have been corrected. They will need some help at school but most children do well in mainstream schooling.

 www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/CHARGE.html

What Is a Tracheostomy?

A tracheostomy (TRA-ke-OS-to-me) is a surgically made hole that goes through the front of your neck and into your trachea (TRA-ke-ah), or windpipe. The hole is made to help you breathe.

A tracheostomy usually is temporary, although you can have one long term or even permanently. How long you have a tracheostomy depends on the condition that required you to get it and your overall health.

Overview

To understand how a tracheostomy works, it helps to understand how your airways work. The airways carry oxygen-rich air to your lungs. They also carry carbon dioxide, a waste gas, out of your lungs.

The airways include your:

  • Nose and linked air passages (called nasal cavities)
  • Mouth
  • Larynx (LAR-ingks), or voice box
  • Trachea, or windpipe
  • Tubes called bronchial tubes or bronchi, and their branches

Air enters your body through your nose or mouth. The air travels through your voice box and down your windpipe. The windpipe splits into two bronchi that enter your lungs.

A tracheostomy provides another way for oxygen-rich air to reach your lungs, besides going through your nose or mouth. A breathing tube, also called a trach (trake) tube, is put through the tracheostomy and directly into the windpipe to help you breathe.

Doctors use tracheostomies for many reasons. One common reason is to help people who need to be on ventilators (VEN-til-a-tors) for more than a couple of weeks.

Ventilators are machines that support breathing. If you have a tracheostomy, the trach tube connects to the ventilator.

People who have conditions that interfere with coughing or block the upper airways also may need tracheostomies. Coughing is a natural reflex that protects the lungs. It helps clear mucus (a slimy substance) and bacteria from the airways. A trach tube can be used to help remove, or suction, mucus from the airways.

trac  12055_03X

 

Watch this 3D video on how this is fitted.

Tracheotomy and tracheostomy are surgical procedures on the neck to open a direct airway through an incision in the trachea (the windpipe). 

https://youtu.be/d_5eKkwnIRs?rel=0

Outlook

Creating a tracheostomy is a fairly common, simple procedure. It’s one of the most common procedures for critical care patients in hospitals.

The windpipe is located almost directly under the skin of the neck. So, a surgeon often can create a tracheostomy quickly and easily.

The procedure usually is done in a hospital operating room. However, it also can be safely done at a patient’s bedside. Less often, a doctor or emergency medical technician may do the procedure in a life-threatening situation, such as at the scene of an accident or another emergency.

As with any surgery, complications can occur, such as bleeding, infection, and other serious problems. The risks often can be reduced with proper care and handling of the tracheostomy and the tubes and other related supplies.

Some people continue to need tracheostomies even after they leave the hospital. Hospital staff will teach patients and their families or caregivers how to properly care for their tracheostomies at home.

Daily Tracheostomy Care

Daily Care

Your child has a tracheostomy to breathe. Air now passes directly into the trachea rather than through the nose. For a while, your child will not be able to talk because the air does not go through the vocal cords.

You may feel afraid when you first start taking care of your child. This is normal. Keep in mind that you are helping your child to breathe. Things will become easier after you get used to doing the suctioning and “trach” care. The following information will help you.

Feeding

Follow the guidelines given to you about what your child can eat. It is a good idea to section before a feeding because the secretions increase during the feeding. While breastfeeding or bottle feeding your baby, be careful not to let the formula drip into the trach. You can use a bib (without a plastic liner) to prevent this. Be sure to burp your baby well.

An adult should always be with your baby when he/she has a bottle in case he/she chokes. NEVER PROP THE BOTTLE. Wait 30-60 minutes after feeding your baby to suction. Coughing stimulated by the suction may cause vomiting. If you can’t wait the 30-60 minutes, remember not to suction down past the end of the trach tube. This causes coughing and gagging.

NOTE: If food or liquid is seen in the trach, suction the trach and mouth immediately. Then, call your child’s doctor.

Play

Your child can take part in most play activities for his/her age. For an infant or small child, all small toy parts or objects should be removed from the play area because they might be put into the trach. Outdoor play is fun, but you must protect your child’s trach from extreme temperatures and/or dirt in the air. Very cold or very hot air may irritate your child’s lungs, making it hard for him/her to breathe. An artificial nose works well to protect your child’s trach and maintain moisture if needed. Your child may go to the beach, as long as an artificial nose or scarf is worn to keep the sand out. Your nurse will show you how to use the artificial nose.

Like all children, your child should be closely watched when in or near the water. Do not allow water to be splashed into your child’s trach.

Communication

At first, your child may not be able to talk to you. This is because the air from the lungs does not pass through the vocal cords. It is important that you talk to your child, read stories, and talk about pictures. Your child may be able to learn to “talk” soon after the trach is in place, especially if he could speak or verbalise before the trach. Speech therapy is important for all children with a tracheostomy.

For more on this click link below

http://www.chkd.org/Patients-and-Families/Health-Library/Way-to-Grow/Tracheostomy,-Daily-Care/

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Change a Tracheostomy

UK and USA

VIDEO on how to change a Tracheostomy, UK

(different Counties do it their way, this is to give you an idea on how)  

A routine Tracheostomy change for Lily. She was unwell at the time fighting off a respiratory infection at the time.

https://www.youtube.com/watch?v=lLuj1bpPjJ4?rel=o

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VIDEO on how to change a Tracheostomy, USA

Tracheostomy tubes need to be changed bi-weekly, or more often. One of the main concerns while doing this procedure is keeping the child calm. For that, a movie works great (just don’t get in their way!). In this video, we show how we clean, then swap out our son Eli’s old (dirty) trach tube for a new clean one. The entire process takes less than 10 minutes. However, preparation takes another 20 minutes.

https://www.youtube.com/watch?v=qsktXLbBtNI?rel=o

I hope this helps

 

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Goldenhar Syndrome

How Common Is Goldenhar Syndrome?

Goldenhar syndrome is considered quite rare, with only 1 in every 3,500 to 25,000 live births diagnosed.

We have used a variety of sources to find out about Goldenhar Syndrome. You will see there are some discrepancies in the information provided, this is due to the unknown nature of the problems. At the moment no one has come up with a specific cause and there are a huge range of treatments depending on where you live and the specific problems that the patient has. We will update this information as time goes by, please let me know if you have any useful additional information on this subject.

Goldenhar Syndrome is an ‘umbrella’ term for a wide range of bone abnormalities affecting the face and sometimes the vertebrae. It has been proven not to be genetic. Other names for this spectrum of problems are Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia.

Goldenhar Syndrome was identified in 1952 by Dr Maurice Goldenhar (hence the name), an ophthalmologist, who wrote a number of articles about facial problems that tend to occur together. Often in hospitals, it is referred to as Hemifacial Microsomia (or Complex Hemifacial Microsomia).

No one yet knows why Goldenhar Syndrome happens and doctors will call it ‘sporadic’ (unknown cause). Children with Goldenhar Syndrome are usually of normal intelligence and live normal life spans. We do know that a baby’s face develops during the 8th to 12th week of pregnancy by several types of tissue growing together and meeting, at the same time, to form facial features. The tissues that become the face and jaw start separately from the upper part of the face. In Goldenhar Syndrome, something goes wrong with this meeting. It is not yet known why or how.

www.craniofacial.net/goldenhar-syndrome-dallas/

Some common problems:

Small, missing or misshapen ears, skin tags (usual in front of the ear), mouth opening larger on one side (Macpostoma); Underdevelopment of the muscles of the face (Hypoplasia); Spinal vertebrae fused, missing or not formed on one side (Hemivertebrae); Ribs misshapen on one side; Eyes – dermoid cyst over the eye, Anophthalmia: missing eye; Middle ear abnormalities – nearly all of the children have hearing loss on the abnormal side; Cleft lip and or palate; Breathing difficulties – some of the children with Goldenhar have required a tracheostomy soon after birth; Feeding problems – some of the children have had difficulty swallowing and required tube feeding; Internal problems such as kidney or heart (heart are less common but, occasionally, are found with this syndrome.

Goldenhar

General comments about Goldenhar Syndrome/Hemi-facial Microsomia:

The main features of this condition are the unilateral under development of one ear (which may even not be present) associated with underdevelopment of the jaw and cheek on the same side of the face. When this is the only problem, it is normally referred to as hemi-facial microsomia, but when associated with other abnormalities, particularly of the vertebrae (hemi-vertebrae or underdeveloped vertebrae, usually in the neck) it is referred to as Goldenhar Syndrome. It is likely, however, that these are two ends of the same spectrum of the same condition. The muscles of the affected side of the face are underdeveloped and there are often skin tags or pits in front of the ear, or in a line between the ear and the corner of the mouth.

Goldenhar 2

There are often abnormalities of the middle ear and the ear canal may be completely absent and deafness (unilateral) is extremely common. There are also eye abnormalities including dermoid and notches in the lids, squints and occasionally small eyes. Children with the Goldenhar end of the spectrum may have a variety of heart problems. A variety of kidney abnormalities may also be present. There are a number of other rarer congenital abnormalities that may occur. Most individuals with Goldenhar syndrome are of normal intelligence although learning difficulties can occur in about 13 percent of cases. These are usually language problems as a result of deafness. There may also be speech and swallowing problems.

Many babies with Goldenhar syndrome have poor weight gain in the first year or two of life. Diagnosis of Goldenhar syndrome is made clinically and no DNA abnormality has been identified. Various environmental causes have been suggested but not proven. Early identification and treatment of deafness are important and speech therapy is often necessary. Help may be required with managing feeding problems and encouraging weight gain in early infancy.

Any associated abnormalities such as the congenital heart problems may need appropriate treatment. Plastic surgeons are now able to improve the growth of the face, particularly the jaw, through the use of bone distraction techniques (this is a device which is able to artificially lengthen the jaw bone). Children with Goldenhar syndrome may also need on-going orthodontic treatment.

What is craniofacial microsomia?

Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. 

What genes are related to craniofacial microsomia?

It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. Specifically, the first and second pharyngeal arches develop into the lower jaw, the nerves and muscles used for chewing and facial expression, the external ear, and the bones of the middle ear. Interference with the normal development of these structures can result in the abnormalities characteristic of craniofacial microsomia.

MORE HELP HERE Very Intresting CLICK HERE   ghr.nlm.nih.gov/condition/craniofacial-microsomia

UK Help : www.goldenhar.org.uk/what-is-goldenhar/

 USA Help : www.craniofacial.net/goldenhar-syndrome-dallas/

Surport Group : www.cafamily.org.uk/medical-information/conditions/g/goldenhar-syndrome/

 

How Do People Inherit Goldenhar Syndrome?

While it is not considered a genetic disorder, scientists conjecture that a genetic factor may be part of a multifaceted cause since it is a rare syndrome which is sometimes seen in families more than once. It is still not widely understood.

Goldenhar Syndrome Characteristics

Goldenhar syndrome is characterised by the incomplete development of lips, ears, nose, soft palate, and mandible, generally on one side of the body. It can also cause incomplete development – or entire absence – of organs. Although it generally affects one side of the body, about 10% of cases occur with defects on both sides of the body. Victims of this syndrome may also suffer from scoliosis, hearing loss, deafness or blindness unilaterally and sometimes bilaterally, and occasionally granulosa cell tumours. Practically speaking, it can cause parts of the jaw, lips, eyes, and various other areas to fail to develop properly, often leaving the victim’s face or body distorted.

What Is the Cause of Goldenhar Syndrome?

Like many congenital disorders, Goldenhar syndrome is caused by an abnormality in the chromosomes of the developing fetus. It is essentially a fault in the programming that instructs the body to develop.

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 CHARGE syndrome “behaviors”: Challenges or adaptations?

Sent to us by a Parent of Adult with Charge

 Children with CHARGE syndrome are truly “multi-sensory impaired,” having difficulties not only with vision and hearing but also with the senses that perceive balance, touch, temperature, pain, pressure, and smell, as well as problems with breathing and swallowing, eating and drinking, digestion, and temperature control. Children with CHARGE present a unique array of behaviours that are frequently reported as “challenging”

For the rest of the report Click here   onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30547/full

About SPD

The SPD Foundation is the world leader in research, education, and awareness for Sensory Processing Disorder, a neurological condition that disrupts the daily lives of more than 4 million Americans. The SPD Foundation provides hope and helps to individuals and families living with SPD.

 To Learn more about this Click on Link  www.spdfoundation.net/

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What is MFDM?

Mandibulofacial dysostosis with microcephaly

Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.

Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped, and they may have skin growths in front of them called preauricular tags. There may also be abnormalities of the ear canal, the tiny bones in the ears (ossicles), or a part of the inner ear called the semicircular canals. These ear abnormalities lead to hearing loss in most affected individuals. Some people with MFDM have an opening in the roof of the mouth (cleft palate), which may also contribute to hearing loss by increasing the risk of ear infections. Affected individuals can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems.

Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. Some people with this disorder also have blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper esophagus does not connect to the lower esophagus and stomach. Most babies born with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening condition; without treatment, it prevents normal feeding and can cause lung damage from repeated exposure to oesophagal fluids.

How common is MFDM?

MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature.

MORE ABOUT THIS HERE

ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly

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Ellen asked me if I would post this here, I have posted it as it was written

Ellen Charge

Steve Wyles put this on your site if you like please those you may want to edit I give you my permission cos I’m deaf-blind i spell things the way I hear things and I am sure I have spelt that j-tube stoma thingy wrong that’s a word that has always had me puzzled how do you spell that thing.

My story
Hi as I said yesterday I am in Sydney Australia. I am now 30 years old and was the 2nd or third diagnosed with CHARGE syndrome in this country. I was born with cleft lip and palate hearing loss vision problems and gut problems to name a few. I had my first Gastrostomy at I think 8 weeks. Have had three failed Nissen fundos and many ops including a hole lot of my tummy removed and part of my bowel. I used to have a feeding jejunostomy as well for many years. They would put my gut down to mobility I never had the tef or tof but I do have a floppy epiglottis which I think has improved over time. I used to spend a lot of time in the older Camperdown children’s hospital then when that moved in 95 to west mead I moved to Sydney Children’s hospital. I have had many bouts of nine months admissions TPN and home TPN for five years. I had one gut surgery once with my old Dr at west mead but then he transferred me to his old register in Randwick. who was by then a fully qualified Dr. She then had me under a gastro Dr but most of my stuff was done by her and my wonderful old paediatrician who is now retired but I believe my old surgeon Susan Adams is still around. I remember her being heavily pregnant and operating on me for hours trying to place a central line after I’d run out of all access. Two days later she about had a heart attack as I got a clot yup I was famous for giving them heart attacks another time my old paed came back from a family emergency and read I had been in the ICU so she ran in to check up on me. After five years on home TPN and a central line sewn directly into my heart many abdominal migraines later and things they found out to be cyclical vomiting syndrome or dumping and a HUGE fungal infection they finally decided to try gastronomy feeds again they worked so then My wonderful Dr was in talks with my old surgeon Hugh martin at west mead she would often ring him for advice he was the one that had done the big ops on me when I was very little decided it was time to get the line out wait a couple months you know for me to heal and everything then go and remove the gallbladder and he would come and help her. Well in June just two weeks before my 18th birthday they removed the gallbladder which was jam packed full of stones and gangrene. Within a couple days I was sitting up they didn’t want me to walk tho as they had a line in the other leg and didn’t want that to clot as well I was home within five days and I still reflux and stuff but nowhere near as bad as when I was younger. a few years later they were able to remove my jejunostomy I am still mostly gastronomy fed but can eat some things by mouth I can’t manage things with high gi high lactose and many other things. I also get bouts of constipation which they give me movicol for and other tings. a couple years after they removed the old tube I got a hernia right under that scar and they had to operate on that but nowadays I am doing ok still have a few problems but haven’t been in hospital for at least three years i do go in tho for tube changes and i go see my gi Dr for check ups I now have a different Dr the Dr i transferred to in prince of Wales hospital right next door to sch has retired in the last year but I have his old registrar who checks up on me when he needs to most of my problems are due to motility and they think something to do with the cranial nerves which a lot of charger ppl have problems with have ya fallen asleep reading yet xxx

( all I can add to this is this… Thank you, Ellen, You are an Inspiration)

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Power in the eye of the beholder

A breakthrough technology is helping non-verbal Perkins students use their limited vision to communicate.

She does it with eye gaze technology. It uses a small video camera to track Emily’s eye movements, allowing her to control a computer cursor simply by looking at it. Originally developed for adults with spinal cord injuries, eye gaze technology is proving equally useful in the classroom at Perkins School for the Blind.

www.perkins.org/stories/blog/power-in-the-eye-of-the-beholder

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My Heart Belongs To Someone With CHARGE   Awareness for our loved ones with CHARGE Syndrome with this awesome shirt!

https://www.booster.com/my-heart-belongs-to-someone-with-charge?utm_source=fb_share_mobile&utm_campaign=my-heart-belongs-to-someone-with-charge&utm_medium=fb_share_on_campaign_page_v2&ref=fb_share_on_campaign_page_v2

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What is Tethered Spinal Cord Syndrome?

Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord.  These attachments cause an abnormal stretching of the spinal cord.  The course of the disorder is progressive.  In children, symptoms may include lesions, hairy patches, dimples, or fatty tumours on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence.  This type of tethered spinal cord syndrome appears to be the result of the improper growth of the neural tube during fetal development and is closely linked to spina bifida.  Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge.  This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord.  Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia.  This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.

Is there any treatment?

MRI imaging is often used to evaluate individuals with these symptoms and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumour or fatty mass (lipoma).  In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age.  If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain.  In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms.  Another treatment is symptomatic and supportive.

What is the prognosis?

With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy.  However, some neurological and motor impairments may not be fully correctable.  Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline.

http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm

introduction Tethered Spinal Cord

This guide aims to provide information for parents and children about the tethered spinal cord. Further information is always available about specific care from the nursing and medical staff.

What is a tethered spinal cord?

Tethered spinal cord describes the condition where the bottom end of the spinal cord is fixed, resulting in neurological problems in the function of the legs, bladder or bowel. It may also be associated with limited movement of the back and back pain. 

Tethered spinal cord commonly occurs with spina bifida. This is a condition that involves the incomplete formation of one or more bones (vertebrae) in the back, and malformation of the spinal cord and its
nerves. As a consequence of this, there is a gap at the lower end of the backbone and there is a risk of damage to the spinal cord. The tethered spinal cord is a developmental condition and is associated with overlying skin lesions; these include:
PLEASE CLICK LINK AND READ ON
http://www.alderhey.nhs.uk/wp-content/uploads/Tethered-Spinal-Chord-PIAG7.pdf
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What is Imperforate Anus?

An imperforate anus is a defect that occurs during the fifth to seventh weeks of fetal development. With these defects, the anus (opening at the end of the large intestine through which stool passes) and the rectum (area of the large intestine just above the anus) do not develop properly.

Imperforate Anus Incidence

Imperforate anus affects 1 in 5,000 babies and is slightly more common in males.The exact cause of imperforate anus is unknown. In some cases, environmental factors or drug exposure during pregnancy may play a role, but this is still unclear.During a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Nerves in the anal canal help us sense the need for a bowel movement and also stimulate muscle activity. Muscles in this area help control when we have a bowel movement.With an imperforate anus, any of the following abnormalities can occur:

A LOT MORE HELP CAN BE FOUND HERE:- http://www.bgk.org.au/arm.php

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