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Hirschsprung's Disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation. The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families. Some of these occur in an autosomal dominant manner. The cause of the remaining cases is unclear. If otherwise normal parents have one child with the condition, the next child has a 4% risk o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histopathology
Histopathology (compound of three Greek words: 'tissue', 'suffering', and '' -logia'' 'study of') is the microscopic examination of tissue in order to study the manifestations of disease. Specifically, in clinical medicine, histopathology refers to the examination of a biopsy or surgical specimen by a pathologist, after the specimen has been processed and histological sections have been placed onto glass slides. In contrast, cytopathology examines free cells or tissue micro-fragments (as "cell blocks "). Collection of tissues Histopathological examination of tissues starts with surgery, biopsy, or autopsy. The tissue is removed from the body or plant, and then, often following expert dissection in the fresh state, placed in a fixative which stabilizes the tissues to prevent decay. The most common fixative is 10% neutral buffered formalin (corresponding to 3.7% w/v formaldehyde in neutral buffered water, such as phosphate buffered saline). Preparation for h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth Defect
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or dia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestinal Transplantation
Intestine transplantation (intestinal transplantation, or small bowel transplantation) is the surgical replacement of the small intestine for chronic and acute cases of intestinal failure. While intestinal failure can oftentimes be treated with alternative therapies such as parenteral nutrition (PN), complications such as PN-associated liver disease and short bowel syndrome may make transplantation the only viable option. One of the rarest type of organ transplantation performed, intestine transplantation is becoming increasingly prevalent as a therapeutic option due to improvements in immunosuppressive regimens, surgical technique, PN, and the clinical management of pre and post-transplant patients. History Intestine transplantation dates back to 1959, when a team of surgeons at the University of Minnesota led by Richard C. Lillehei reported successful transplantation of the small intestine in dogs. Five years later in 1964, Ralph Deterling in Boston attempted the first huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pull-through Procedure
A pull-through procedure is the definitive operation for Hirschsprung disease, involving the removal of the abnormal segment of bowel that has no nerves, pulling through the normal bowel and connecting it to the anus. Several types of pull-through procedures exist including the Soave, Swenson and Duhamel. It can be performed using an open or minimally invasive approach. Aim A pull-through procedure is the definitive treatment for Hirschsprung's disease, with the aim of removing the abnormal part of the bowel and joining the normal part of the intestine with the anus. Swenson pull-through The original pull-through procedure was designed by Orvar Swenson and his colleague Alexander Bill. The abnormal aganglionic part of the bowel is resected down to the sigmoid colon and rectum, and the normal colon and the low rectum are subsequently joined. Duhamel pull-through The Duhamel pull-through is a modified Swenson's pull-through, first described in 1956. Soave pull-through The Soa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small Bowel
The small intestine or small bowel is an organ in the gastrointestinal tract where most of the absorption of nutrients from food takes place. It lies between the stomach and large intestine, and receives bile and pancreatic juice through the pancreatic duct to aid in digestion. The small intestine is about long and folds many times to fit in the abdomen. Although it is longer than the large intestine, it is called the small intestine because it is narrower in diameter. The small intestine has three distinct regions – the duodenum, jejunum, and ileum. The duodenum, the shortest, is where preparation for absorption through small finger-like protrusions called intestinal villi begins. The jejunum is specialized for the absorption through its lining by enterocytes: small nutrient particles which have been previously digested by enzymes in the duodenum. The main function of the ileum is to absorb vitamin B12, bile salts, and whatever products of digestion that were not absorbed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorders
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enterocolitis
Enterocolitis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, and alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or – most frequently – by significant losses of water and minerals, the consequence of diarrhea and vomiting. Signs and symptoms Symptoms of enterocolitis include abdominal pain, diarrhea, nausea, vomiting, fever, and loss of appetite. Cause Among the causal agents of acute enterocolitis are: * bacteria: ''Salmonella'', ''Shigella'', ''Escherichia coli (E. coli)'', '' Campylobacter'' etc. * viruses: enteroviruses, rotaviruses, norovirus, adenoviruses * fungi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Failure To Thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as no single objective standard or universally accepted definition exists for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the fifth percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
