|
Walter Berdon
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor as24 years old." ''The Ann Arbor News'' reported a five year old survivor at the end of 2015. It is more prevalent in females (7 females to 3 males) and is characterized by constipation and urinary retention, microcolon, giant bladder ( megacystis), intestinal hypoperistalsis, hydronephrosis and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown cause. Walter Berdon ''et al.'' in 1976 first described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant ( allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive Gene
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Gastrointestinal Tract
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestine 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 human ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ileostomy
Ileostomy is a stoma (surgical opening) constructed by bringing the end or loop of small intestine (the ileum) out onto the surface of the skin, or the surgical procedure which creates this opening. Intestinal waste passes out of the ileostomy and is collected in an external ostomy system which is placed next to the opening. Ileostomies are usually sited above the groin on the right hand side of the abdomen. Uses Ileostomies are necessary where injury or a surgical response to disease has meant the large intestine cannot safely process waste, typically because the colon and rectum have been partially or wholly removed. Diseases of the large intestine which may require surgical removal include Crohn's disease, ulcerative colitis, familial adenomatous polyposis, and total colonic Hirschsprung's disease.''Ileostomy Guide''< ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urinary Diversion
Urinary diversion is any one of several surgical procedures to reroute urine flow from its normal pathway. It may be necessary for diseased or defective ureters, bladder or urethra, either temporarily or permanently. Some diversions result in a stoma. Types * Nephrostomy from the renal pelvis * Urostomy from more distal origins along the urinary tract, with subtypes including: ** Ileal conduit urinary diversion (Bricker conduit) ** Indiana pouch * Neobladder to urethra diversion Ureteroenteric anastomosis A common feature of the three first, and most common, types of urinary diversion is the ureteroenteric anastomosis. This is the joining site of the ureters and the section of intestine used for the diversion. The ureteroenteric anastomosis can be created in a number of different ways. There is the option of a refluxing or a non-refluxing type, and the two ureters can be joined into the intestinal segment either together or separately. The non-refluxing type has been associ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urinary Catheterisation
In urinary catheterization a latex, polyurethane, or silicone tube known as a urinary catheter is inserted into the bladder through the urethra to allow urine to drain from the bladder for collection. It may also be used to inject liquids used for treatment or diagnosis of bladder conditions. A clinician, often a nurse, usually performs the procedure, but self-catheterization is also possible. A catheter may be in place for long periods of time (indwelling catheter) or removed after each use (intermittent catheterization). Catheter types Catheters come in several basic designs: *A Foley catheter ( indwelling urinary catheter) is retained by means of a balloon at the tip that is inflated with sterile water. The balloons typically come in two different sizes: 5 cm3 and 30 cm3. They are commonly made in silicone rubber or natural rubber. *An intermittent catheter/Robinson catheter is a flexible catheter that is removed after each use. Unlike the Foley catheter, it has n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Parenteral Nutrition
Parenteral nutrition (PN) is the feeding of nutritional products to a person intravenously, bypassing the usual process of eating and digestion. The products are made by pharmaceutical compounding companies. The person receives a nutritional mix according to a formula including glucose, salts, amino acids, lipids and vitamins and dietary minerals. It is called total parenteral nutrition (TPN) or total nutrient admixture (TNA) when no significant nutrition is obtained by other routes, and partial parenteral nutrition (PPN) when nutrition is also partially enteric. It is called peripheral parenteral nutrition (PPN) when administered through vein access in a limb rather than through a central vein as central venous nutrition (CVN). Medical uses Total parenteral nutrition (TPN) is provided when the gastrointestinal tract is nonfunctional because of an interruption in its continuity (it is blocked, or has a leak – a fistula) or because its absorptive capacity is impaired.Kozie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiology
Radiology ( ) is the medical discipline that uses medical imaging to diagnose diseases and guide their treatment, within the bodies of humans and other animals. It began with radiography (which is why its name has a root referring to radiation), but today it includes all imaging modalities, including those that use no electromagnetic radiation (such as ultrasonography and magnetic resonance imaging), as well as others that do, such as computed tomography (CT), fluoroscopy, and nuclear medicine including positron emission tomography (PET). Interventional radiology is the performance of usually minimally invasive medical procedures with the guidance of imaging technologies such as those mentioned above. The modern practice of radiology involves several different healthcare professions working as a team. The radiologist is a medical doctor who has completed the appropriate post-graduate training and interprets medical images, communicates these findings to other physicians ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYLK
Myosin light chain kinase, smooth muscle also known as kinase-related protein (KRP) or telokin is an enzyme that in humans is encoded by the ''MYLK'' gene. Function This gene, a muscle member of the immunoglobulin superfamily, encodes a myosin light-chain kinase, which is a calcium-/ calmodulin-dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYH11
Myosin-11 is a protein that in humans is encoded by the ''MYH11'' gene. Function Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Clinical significance Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits signi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
_(14582377398).jpg "Click for more on -> Recessive Gene")
