Plus Type 3 by Floyd’s classification (Very Rare)
A rare but fatal congenital anomaly
In this report, we describe a newborn with a rare case of Type II tracheal agenesis and bronchoesophageal fistula. Polyhydramnios and suspected esophageal atresia were identified during routine prenatal ultrasound screening. Upon delivery, rigid bronchoscopy, esophagoscopy, and intraoperative fluoroscopy was performed, where both bronchi and the carina showed unusual horizontal orientation making it difficult to identify the fistula. However, a post-mortem CT confirmed the diagnosis of an isolated Type II tracheal agenesis with bronchoesophageal fistula. Tracheal agenesis is a rare and lethal congenital anomaly, where a complete interruption or absence of the trachea is present. Since it was initially described in 1900, few cases have been published worldwide. The prevalence of tracheal agenesis is less than 1:50,000 with a male to female ratio of 2:1. In general, 52% of cases are associated with premature delivery and approximately half of the cases are associated with polyhydramnios.
Tracheal agenesis is a catastrophic congenital anomaly that invariably results in death. Forty-seven cases have been previously reported in the literature. We add five additional cases, including two type 1 cases, two type 2 cases, and one type 3 case, based on Floyd’s classification scheme. We describe the features of this unusual anomaly at the time of diagnosis. We discuss a rational approach to the management of this difficult problem on an emergent basis that allows for the maintenance of the infant’s life until all of the implications of this fatal condition can be assessed. While we do not advocate reconstructive surgery for this anomaly, which has been universally fatal, we discuss the potential rearrangement of the anatomy, which may offer some hope in future cases. The concomitant congenital anomalies associated with these cases are reviewed, and autopsy specimens are presented for their anatomic interest.
Click here to read more
Tracheal agenesis is an extremely rare congenital anomaly involving the respiratory system. It is generally associated with anomalies of other systems. Antenatal diagnosis of this condition is difficult; therefore, it presents as a medical emergency in the labor room. Intubation in these babies is difficult. As many of these babies are born prematurely, respiratory distress syndrome (RDS) adds to the management difficulties. Here, we describe two babies with this lethal anomaly and RDS where esophageal intubation and surfactant therapy proved beneficial. Furthermore, described are other associated anomalies. A male baby was born to a 25-year-old mother at 30 weeks of gestation. The mother had presented in emergency with preterm labor and her antenatal ultrasonography (US) done at 26 weeks was suggestive of polyhydramnios. The baby was delivered vaginally and weighed 1.2 kg. As the baby did not cry immediately, endotracheal intubation was attempted to secure the airway but the vocal cords could not be visualized and there was a single opening corresponding to the esophagus.
The photo will enlarge if clicked on, (Evidence of respiratory distress syndrome)
Resuscitation was hence continued with bag and mask ventilation and baby was shifted to the NICU where a second attempt was made to intubate which failed again. As the baby’s condition worsened, the endotracheal tube was passed in the visualized opening, after which the saturations improved. In view of X-ray chest, suggestive of severe respiratory distress syndrome (RDS), natural bovine surfactant with 100 mg/kg of phospholipids was given through the “endotracheal tube,” which showed improvement suggesting that a connection existed between the esophagus and trachea. On invasive ventilation with high-pressure support and 100% FiO2, the saturation was maintained at 85%. The baby also had an imperforate anus, a structurally normal heart on echocardiography, and normal abdominal US. Because of the critical condition of the baby, computed tomography (CT) was not attempted but a water-soluble dye was instilled through the endotracheal tube which showed the esophageal tracheal connection. The baby further got complicated with a developing pneumoperitoneum, which was drained, but the baby died at 48 h of life.
Much more on this with many x-rays
Support Group for Children born with TA – https://www.facebook.com/groups/903624563173992/
Thomas Richards survive’s birth without a trachea
Our little man is pretty famous in our area of the globe. More or less area of our home state of Wisconsin. He’s had a few stories written about him. He is as far as we have been told and know the oldest survivor in the United States. The link provided is to his debut story written and explains in great detail about the beginning of our journey with TA. And this Saturday he will be 2 years old!! (2018)
Deep in the womb, about the time that the human embryo is, in its entirety, about the size of a peppercorn, a tube sprout’s in the rapidly evolving realm of its primitive lungs. As the tube grows, two ridges form along its length inside. These ridges eventually fuse, creating two tubes. The one in front becomes the trachea — the windpipe — through which we breathe. The one behind becomes the esophagus – the gullet — through which we swallow. Mature, the trachea begins below the voice box, descends three or four inches, and then branches to the lungs. Poke the base of your neck, just above your chest, and you can feel the rings of its stiff, cartilaginous shell.
The esophagus is a stretchy hose of muscle, twice the length of the trachea, that leads from the throat to the stomach. In more than a century, medical literature has recorded fewer than 200 cases in which the fetal trachea fails to form. Babies born with this anomaly, called tracheal agenesis, die silently, having never drawn a breath. Only five, and only due to extraordinary surgical intervention, have survived.
The team of doctors and nurses who treated Thomas Richards pose with him and his family shortly before his discharge from Children’s Hospital of Wisconsin on Sept. 1. They are (from left) Michael McCormick, Cecilia Lange, Mike Mitchell, Keith Oldham, John Densmore (holding Thomas), father Corey Richards, mother Jessica Richards, nurse Heather Sepp and child life specialist Molly McCormick. Marshfield Clinic.
The medical team moved Thomas to an operating room, where a surgeon made an unsuccessful attempt to find Thomas’ trachea.
Thomas did not appear to have a trachea, she explained. What air was reaching him was flowing down his esophagus and through a tiny fistula, a passageway, that opened to his lungs. None of the three had ever seen such a thing. But, they decided, if they could get air to Thomas’ lungs by putting a breathing tube down his esophagus, then that’s what they would do. Thomas was placed on a ventilator. Almost immediately, Dominguez was presented with a new problem.
Most of the air ventilating through Thomas’ esophagus was ending up in his stomach. Some of it reached his lungs, but every breath the ventilator delivered expanded his stomach more, compressing the lungs the team was so furiously trying to inflate. Woods suggested that Dominguez clamp Thomas’ esophagus just above his stomach. That would keep air out and force it through the fistula. It was pure improvisation, and though Dominguez had never attempted such a procedure, Woods’ suggestion made sense.
Click Photo’s to enlarge
Dominguez reached Thomas’ esophagus through an incision in his abdomen. She had to simply guess at how firmly she should close the clamp. Too tight, and the tissue would fall apart. Too loose, and the clamp would let air leak through or fall off.
She gave it her best shot, then installed a gastrostomy tube — a feeding tube — through the same incision to deflate his stomach.
She then affixed a patch over the incision and, about 9 p.m., sent Thomas by ambulance to Children’s Hospital. She went home, exhausted but unable to sleep, wondering if Thomas would survive the three-hour journey.
The Full Story on this brave Child can be found here look below.
Children’s Hospital of Wisconsin
Twin pregnancy complicated by esophageal atresia, duodenal atresia
Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature.
Published: 18 March 2017
This is very long with x-rays, Graphs, etc well worth reading so click on the link below
The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy. Therefore we believe this is the first case report of an antenatal diagnosis of combined pure esophageal and duodenal atresia in a twin gestation.
We present a case of a 30-year-old G1P0 white woman at 22-weeks gestation with a monochorionic-diamniotic twin pregnancy discordant for esophageal atresia, duodenal atresia with gastric perforation, hypoplastic left heart structures, and significant early gestation maternal polyhydramnios. In this case, fetal magnetic resonance imaging was able to depict additional findings including the area of gastric wall rupture, hiatal hernia, dilation of the distal esophagus, and area of duodenal obstruction and thus facilitated the proper diagnosis. After extensive counseling at our multidisciplinary team meeting, the parents elected to proceed with radiofrequency ablation of the anomalous twin to maximize the survival of the normal co-twin. The procedure was performed successfully with complete cessation of flow in the umbilical artery and complete cardiac standstill in the anomalous twin with no detrimental effects on the healthy co-twin.
Prenatal diagnosis of complex anomalies in twin pregnancies constitutes a multitude of ethical, religious, and cultural factors that come into play in the management of these cases. Fetal magnetic resonance imaging provides detailed valuable information that can assist in management options including possible prenatal intervention. The combination of a cystic structure with peristalsis-like movement above the diaphragm (for example, “the upper thoracic pouch sign”), polyhydramnios, and progressive distention of the stomach and duodenum should increase suspicion for a combined pure esophageal and duodenal atresia.
This is much longer than I have put here.
unable to eat
What is duodenal atresia?
The duodenum is the first portion of small intestine after the stomach that has many connections to and shares blood vessels with other organs such as the liver, gallbladder, and pancreas. When part of the bowel fails to develop normally in the fetus, a blockage of the duodenum can occur, otherwise known as an atresia or bowel obstruction. Duodenal atresias can occur as a complete or partial blockage of any portion of the duodenum. Newborns diagnosed with duodenal atresia often present with vomiting.
Duodenal atresia occurs between 1 in 1,000 and 1 in 5,000 live births. About 1/3 of infants born with duodenal atresia will also have Down Syndrome. Because of this association, newborns have often tested for other problems such a heart defects.
What will happen during pregnancy?
In general, duodenal atresia is difficult to diagnose during pregnancy. Prenatal diagnosis is usually based on non-specific signs on fetal ultrasound such as a dilated stomach. Because the amniotic fluid is normally swallowed and digested by the fetus, duodenal atresia can cause an increase in fluid in the amniotic sac, hydramnios. Although there are many other causes of hydramnios, this may be the first sign of a duodenal atresia.
Duodenal atresia may be suspected by a routine prenatal ultrasound in the third trimester. Although the ultrasound may be suggestive that there is an abnormality, it cannot determine with 100% certainty that there is a bowel obstruction.
The obstetrician may order a special ultrasound that will examine the baby’s heart, also known as a fetal echocardiogram, and recommend an amniocentesis to look for chromosomal abnormalities. The mother’s amniotic fluid and the growth of the baby will be monitored closely with ultrasound by the obstetrician. Severe hydramnios may put the mother at risk for early delivery.
The fetal team will closely evaluate your fetus with duodenal atresia and help determine the best course of treatment. Your pregnancy will be closely monitored for complications. The Center coordinator will keep you in contact with the appropriate physicians and specialists as well as coordinating the care for you and your baby after delivery.
Will a fetal treatment be required?
Although there are no prenatal treatment options for a baby with duodenal atresia, careful planning of delivery and care of the baby after birth can make a smooth transition for mother and child.
What special considerations should be made for delivery?
Type of delivery – Babies with duodenal atresia usually do not need a cesarian delivery. The delivery plan will be discussed with you and your obstetrician.
Place of delivery – As long as the baby does not demonstrate signs of distress, he or she can be cared for and delivered with usual obstetrical precautions. After birth, the baby can be safely transported to a treatment centre with doctors and services such as a neonatal intensive care unit and the paediatric surgery. A child diagnosed with duodenal atresia will require an operation to address the problem and may stay in the hospital for several weeks.
Time of delivery -Intentional early delivery does not improve outcome. However, increasing amniotic fluid levels (hydramnios) does raise the chance for preterm delivery. If complications arise, the obstetrician may decide to induce delivery earlier than the expected due date.
Duodenal atresia occurs in the duodenum and causes a blockage. The duodenum is the bowel adjoining the stomach. Atresia means gap. Occasionally there may not be a complete atresia but a partial narrowing (stenosis) instead.
Duodenal atresia can be diagnosed on an ultrasound scan antenatally. This is a rare condition, the incidence is thought to be around 1 in 10,000 births. There is no known cause for this, but it is believed to have occurred sometime during the early weeks of pregnancy.
The diagnosis is made by seeing two fluid-filled areas in the baby’s abdomen which are the dilated stomach and duodenum. This is referred to as the ‘double bubble’ of duodenal atresia. This may have been detected on an antenatal scan or may not be detected until after the delivery when the baby starts to vomit.
Duodenal atresia can result in an increase in the amniotic fluid around the baby (known as polyhydramnios) which may lead to an early delivery.
Duodenal atresia can be associated with other abnormalities. Approximately one-third of babies with duodenal atresia have a chromosomal condition known as Down’s Syndrome and it is possible to test for this antenatally. This will be discussed with you by the team caring for you during your pregnancy. Other investigations may be necessary after the baby is born.
Found a FaceBook Group dealing with this Support TEF/EA, Duodenal Atresia, CHD & g-tubes, Click to join.
Diagnosing Down Syndrome
Updated April 20, 2016
Duodenal atresia is a birth defect of the digestive or gastrointestinal (GI) system that occurs more frequently in infants with Down Syndrome. Somewhere between 5 percent and 7 percent of infants with Down syndrome will be born with duodenal atresia, as compared to only 1 in 10,000 infants who do not have Down syndrome.
No one knows exactly why this happens, but it is known that it occurs early in the prenatal development of a fetus, prior to eleven weeks gestation. Rest assured that if your baby has duodenal atresia, there is nothing that you did to cause it or could have done to prevent it. Most infants with this problem do well after surgery.
Down Syndrome is typically diagnosed during pregnancy or shortly after birth. Learn about the screenings available and what they mean.
Step-by-Step Guide to Diagnosing Down Syndrome
Your paediatrician is often the first to suspect the diagnosis of Down syndrome in a newborn. The diagnosis is usually considered when a baby has certain physical findings, facial features, and possibly other birth defects.This step-by-step guide will explain what your paediatrician is looking for, and what tests are necessary to diagnose Down syndrome in a newborn baby.It is important to remember that while there are some similar findings that lead to a diagnosis of Down syndrome, no single baby with Down syndrome will have all of the features described here. Nor does the number of physical problems in a baby with Down syndrome correlate with their intellectual capacity. Each and every child with Down syndrome has their own unique personality and strengths.
Are You at Risk of Having a Baby With Down Syndrome?
For the Full page on this click here
For more info click here and lean, plus these are the support groups that can help you more.
Undescended Testicle Repair Surgery
What Is an Undescended Testicle Repair?
Undescended testicle repair surgery, also known as orchiopexy or orchidopexy, is a procedure that corrects cryptorchidism. This is a condition in which one or both testicles haven’t dropped into their proper position in the scrotum.
Orchiopexy is usually performed on infant males who are between 5 and 15 months old. The surgery reduces the risks of complications later in life.
Orchiopexy may also be performed on men whose undescended testicles weren’t corrected as children. However, the surgery isn’t recommended in all cases and should be discussed with a doctor.
The testicles begin developing in baby boys while they’re still inside their mother’s womb. Normally, the testicles drop down into the scrotum during the last few months before birth. In some cases, however, one or both testicles fail to descend correctly.
In half of these cases, a child’s testicles will drop down into their correct position within the scrotum within the first year of life without treatment. When the testicles don’t descend within the first year, the condition is known cryptorchidism. If your son has cryptorchidism, their doctor will likely recommend surgery to correct it. Undescended testicle repair surgery, also known as orchiopexy or orchidopexy, is an operation that’s commonly done to correct the placement of a testicle that hasn’t dropped into the scrotum. It’s usually performed on boys who are between 5 and 15 months old.
Why Is an Undescended Testicle Repair Performed?
Orchiopexy is performed to correct cryptorchidism, a condition in which one or both testicles haven’t descended into their proper position in the scrotum. If it’s left untreated, cryptorchidism can lead to infertility, increase the risk of testicular cancer, and cause hernias in the groyne. It’s important to correct cryptorchidism in your child so that these risks are minimised.
Surgical options may differ for adult males whose undescended testicles weren’t corrected during childhood. Orchiopexy is usually the preferred choice for men who are age 32 and under. However, a doctor may suggest the complete removal of undescended testicles for younger men who are at a high risk of developing cancer. Orchiopexy usually isn’t performed on men over age 32, as there is an increased risk of adverse reactions to anaesthesia. If you’re in this situation, consult with your doctor or a urologist to learn more about your options.
How Do we Prepare for an Undescended Testicle Repair?
Orchiopexy is done under general anaesthesia, so certain rules for eating and drinking must be followed in the hours leading up to the procedure. The doctor will give your child specific instructions that they must follow.
While very young children may not realise that they’re going in for surgery, older children may get nervous before their procedure. They might feel especially nervous if you as a parent feel worried. Educate yourself about the procedure so that you feel comfortable and don’t unknowingly project your anxiety onto your son.
What Happens During an Undescended Testicle Repair?
Read more here
More info with photos
Cryptorchidism literally means hidden or obscure testis. It is synonymous with an incomplete testicular descent. The condition may be unilateral or bilateral. The term encompasses palpable, nonpalpable, and ectopic testicles The position of testis can be abdominal, inguinal, prescrotal, or gliding. Incidence is 3-5% in full-term boys, and 1.8% at one year of age.
The testicles descend to a scrotal position in human beings in order to optimise sperm production. The actual mechanisms of descent are unknown at present time. Certain important factors that cause proper descent include traction on testis by attachments in the scrotum, differential growth of the body wall, intra-abdominal pressure, maturation of the epididymis being responsible for migration of the testis. Multiple hormonal factors contribute also.
What you read under here is to give you an idea about this rare condition, and a starting point from where you can start from
Before you read what I have found and put together I would like to let you know of a Facebook Group I have stumbled across and in placing here above this post on my website can give you hope that you’re not alone.
The group is called
Skyler Journey with Feingold Syndrome
Click on the red link below
What is Feingold syndrome?
Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.
People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the oesophagus (oesophagal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.
How common is Feingold syndrome?
Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.
What genes are related to Feingold syndrome?
Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.
Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.
What is the official name of the MYCN gene?
The official name of this gene is “v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog.” MYCN is the gene’s official symbol. The MYCN gene is also known by other names.
What is the normal function of the MYCN gene?
The MYCN gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.The MYCN gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The MYCN gene is a member of the Myc family of oncogenes. These genes play important roles in regulating cell growth and division (proliferation) and the self-destruction of cells (apoptosis).
Does the MYCN gene share characteristics with other genes?
The MYCN gene belongs to a family of genes called bHLH (basic helix-loop-helix). A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other.
Neuroblastoma – associated with the MYCN gene
Some gene mutations are acquired during a person’s lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Somatic mutations sometimes occur when DNA makes a copy of itself (replicates) in preparation for cell division. Errors in the replication process can result in one or more extra copies of a gene within a cell. The presence of extra copies of certain genes, known as gene amplification, can underlie the formation and growth of tumour cells. For example, amplification of the MYCN gene is found in about 25 percent of neuroblastomas. Neuroblastoma is a type of cancerous tumour that arises in developing nerve cells. The number of copies of the MYCN gene varies widely among these tumours but is typically between 50 and 100. Amplification of the MYCN gene is associated with a more severe form of neuroblastoma. It is unknown how amplification of this gene contributes to the aggressive nature of neuroblastoma.
How do people inherit Feingold syndrome?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Where can I find information about diagnosis or management of Feingold syndrome? JUST CLICK ON THESE LINKS
Webbing of the fingers or toes
Other Name’s used Syndactyly; Polysyndactyly
2015 May 31
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
Feingold syndrome (FS) is an autosomal dominant disorder characterised by microcephaly, short stature, digital anomalies, oesophagal/duodenal atresia, facial dysmorphism, and various learning disabilities. Heterozygous deletion of the miR-17-92 cluster is responsible for a subset of FS (Feingold syndrome type 2, FS2), and the developmental abnormalities that characterise this disorder are partially recapitulated in mice that harbour a heterozygous deletion of this cluster (miR-17-92∆/+ mice). Although Feingold patients develop a wide array of learning disabilities, no scientific description of learning/cognitive disabilities, intellectual deficiency and brain alterations have been described in humans and animal models of FS2. The aim of this study was to draw a behavioural profile, during development and in adulthood, of miR-17-92∆/+ mice, a genetic mouse model of FS2. Moreover, dopamine, norepinephrine and serotonin tissue levels in the medial prefrontal cortex (mpFC), and Hippocampus (Hip) of miR-17-92∆/+ mice were analysed. Our data showed decreased body growth and reduced vocalisation during development. Moreover, selective deficits in spatial ability, social novelty recognition and memory span were evident in adult miR-17-92∆/+ mice compared with healthy controls (WT). Finally, we found altered dopamine as well as serotonin tissue levels, in the mpFC and Hip, respectively, of miR-17-92∆/+ in comparison with WT mice, thus suggesting a possible link between cognitive deficits and altered brain neurotransmission.
MiR-17/92 and Normal Development
The miR-17/92 cluster is highly expressed in embryonic cells and has an important role in development.
MiR-17/92 was the first group of miRNAs to be implicated in a developmental syndrome in humans. Indeed, studies of patients with Feingold syndrome revealed an important role for the miR-17/92 cluster in normal skeletal development. Human patients with heterozygous microdeletions in the MIR17HG locus have autosomal dominant Feingold syndrome, characterised by multiple skeletal abnormalities in the fingers and toes, short stature and microcephaly. Some patients also show various degrees of learning and developmental disabilities.
Genetics Home Reference provides consumer-friendly information
Feingold Syndrome 1
CLICK ON THE UNDERLINED RED WORDING TO TAKE YOU TO MORE INFO
Feingold syndrome 1 is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild to moderate learning disability.
Treatment of manifestations: Gastrointestinal atresia is treated surgically. Hearing loss, renal anomalies, and cardiac anomalies are treated in the usual manner.
Feingold syndrome 1 is inherited in an autosomal dominant manner. Approximately 60% of individuals with Feingold syndrome 1 have an affected parent; the proportion of cases caused by de novo mutations is unknown. Each child of an individual with Feingold syndrome 1 has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family has been identified.
For more info click on this link below, and work your way though the mass of links.
Long-term survivors after esophagectomy with gastric pull-up can enjoy good quality of life
March 19, 2014
Long-term survivors after esophagectomy with gastric pull-up can enjoy a satisfying meal and good quality of life according to a new study from a team of researchers at the University of Southern California Keck School of Medicine, Los Angeles. This study concluded that pessimism about the long-term quality of life after an esophagectomy on the part of treating physicians and patients is unwarranted. It is published in the Journal of Thoracic and Cardiovascular Surgery, an official publication of the American Association for Thoracic Surgery.
Esophagectomy with gastric pull-up is a surgical procedure in which the stomach is used to replace the oesophagus. This procedure is an integral part of the curative treatment of oesophagal cancer, either as initial therapy or after pre-operative chemoradiotherapy, and is also done for end-stage benign conditions in some patients. The surgery significantly impacts physical fitness and health-related quality of life early on, and can be associated with problems such as anastomotic strictures, rapid gastric emptying or “dumping,” and diarrhoea. Concerns about the surgery and early postoperative quality of life may lead patients to consider alternative therapies even though these options may not provide the same potential to cure cancer or address the oesophagal dysfunction.
There have been few reports on the recovery of quality of life long-term after esophagectomy. The longest previously reported study was five years after esophagectomy. In the current study, investigators looked at 40 patients (36 men and 4 women) who were at least 10 years and up to 19 years out from their surgery. The patients were interviewed about their alimentary satisfaction and gastrointestinal symptoms and were assessed for their gastrointestinal and overall quality of life. Patients were between 58 and 92 years old (median age 75) at the time of the survey.
“The quality of life in patients who survived ten or more years after esophagectomy and gastric pull-up was excellent, matching or exceeding population normal values,” observes senior investigator Steven R. DeMeester, MD, Professor and Clinical Scholar in the Department of Surgery at the University of Southern California School of Medicine. “The overwhelming majority of our patients were satisfied with their ability to eat and had a body-mass index (BMI) in the normal or overweight range.”
The investigators found that gastrointestinal symptoms were typically manageable, although troublesome dumping with meals, diarrhoea, or regurgitation occurred in one-third of the patients. Most patients had no swallowing problems, 90% were able to eat three or more meals a day, and 93% could finish more than half of a typical-sized meal. Few patients experienced serious complications such as aspiration pneumonia.
“Our findings show that pessimism regarding the long-term ability to enjoy a meal and live with a good quality of life after esophagectomy is unwarranted,” continues DeMeester. “This is important because sharing a meal is such an important social event for most people. In fact, you may have eaten dinner at a restaurant next to someone who has had an esophagectomy and never known it.” Dr DeMeester concludes with the caution that “an esophagectomy is a complex procedure and should be done by experienced surgeons at experienced centres to ensure the best outcome”.