TY - JOUR. T1 - Waardenburg syndrome type IV De Novo SOX10 variant causing chronic intestinal Pseudo-Obstruction. AU - Hogan, Anthony R.. AU - Rao, Krishnamurti A.. AU - Thorson, Willa L.. AU - Neville, Holly L.. AU - Sola, Juan E.. AU - Perez, Eduardo A.. PY - 2019/1/1. Y1 - 2019/1/1. N2 - Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprungs disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprungs disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprungs disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis ...
This cross sectional study has characterised the spectrum of clinical, pathological, and prognostic features of the syndrome of CIIP in adults attending a tertiary referral hospital. It was designed to give an overview of the condition which case reports cannot do, because of their focus on individual patients and their inherent bias in reporting unusual features. It demonstrates that in a specialised centre, using our diagnostic criteria, most patients have a visceral myopathy, with a prolonged but disabling course.. The condition of CIIP is rare. We do not believe that our patients are completely typical of affected patients in the community. However only a limited number of tertiary referral centres are likely to manage enough patients with this condition to enable a report such as this to be composed. Some patients will have a relatively benign course with limited symptoms and no need for nutritional supplementation, as occurred in some of the relatives of patient 14. Although this family ...
In some individuals with primary intestinal pseudo-obstruction, the condition is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton.. Some individuals with primary intestinal pseudo-obstruction have FLNA gene mutations that result in an abnormally short filamin A protein. Others have duplications or deletions of genetic material in the FLNA gene. Researchers believe that these genetic changes may impair the function of the filamin A protein, causing abnormalities in the cytoskeleton of nerve cells (neurons) in the gastrointestinal tract. These abnormalities interfere with the nerves ability to produce the coordinated waves of muscle contractions (peristalsis) that ...
CIIPS in children has been reported under a variety of names; megacystis-microcolon-intestinal hypoperistalsis syndrome, intestinal pseudo-obstruction, chronic adynamic ileus, pseudo-Hirschsprungs disease, adynamic bowel syndrome, colonic neuronal dysplasia, and hollow visceral myopathy.17-25 It is the result of a heterogeneous group of disorders of the enteric neuromusculature that cause severe intestinal dysmotility, resulting in functional obstruction.26-30 Analysis of published studies has shown that most patients develop symptoms early in life.31 In this series, 32 of 44 children developed symptoms during the 1st year of life. At birth they may present with obstruction of either the gut or urinary tract, or both. A persistent bilious aspirate can indicate an associated midgut malrotation. Later, the main presentation is with chronic constipation and/or abdominal distension associated with obstruction and episodic vomiting, which may be bile stained. Previous studies have either been of ...
Discussion Chronic intestinal pseudo-obstruction (CIPO) is a rare, severe syndrome with impaired gastro-intestinal motility leading to functional obstruction resembling mechanical obstruction. It usually affects elderly people with underlying co-morbidities, and early recognition and appropriate management are essential to reduce life-threatening complications.1 The condition may be idiopathic or secondary to other conditions. Most cases are sporadic. Familial forms with either dominant or recessive autosomal inheritance have been described. Histologically, it is classified into neuropathies, mesenchymopathies and myopathies, according to the predominant involvement of enteric neurons, interstitial cells of Cajal or smooth-muscle cells, respectively.2 Hollow visceral myopathy (HVM) is a myopathic cause of CIPO. HVM is a rare clinical entity characterised by impaired intestinal function and motility secondary to a smooth-muscle defect.3,4 Familial visceral myopathy is the most common type, with ...
Relief is when you and the right researcher find each other Finding the right clinical trial for Natal teeth, intestinal pseudoobstruction and patent ductus can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
The main treatment is nutritional support to prevent malnutrition and antibiotics to treat bacterial infections. Disorders that may coexist and worsen symptoms of pseudo-obstruction--such as gastroparesis (delayed stomach emptying), gastroesophageal reflux, or bacterial overgrowth--need to be identified and treated.. The challenges of treating chronic pseudo-obstruction are often multifaceted and involve the patient and family as well as the physician. The physician may suggest a multidisciplinary approach to treatment. A management team might include the childs pediatric gastroenterologist, a pediatric pain management specialist, a behavioral specialist, and others.. Chronic abdominal pain or the fear of pain is a common complaint in children with chronic intestinal pseudo-obstruction and may be treated with behavioral or relaxation therapy as well as with non-narcotic medicines.. Some children are able to benefit from small, frequent meals. Others are unable or unwilling to eat because of the ...
The term intestinal pseudo-obstruction denotes a syndrome characterized by a clinical picture suggestive of mechanical obstruction in the absence of any demonstrable evidence of such an obstruction in the intestine. On the basis of the clinical presentation, pseudo-obstruction syndromes can be divided into acute and chronic forms.
Pseudo-obstruction is a syndrome characterized by signs and symptoms of a mechanical obstruction of the small or large bowel in the absence of an anatomic lesion that obstructs the flow of intestinal contents. Pseudo-obstruction may be acute or chron
TY - JOUR. T1 - Can intestinal pseudo-obstruction drive recurrent stroke-like episodes in late-onset MELAS syndrome? A case report and review of the literature. AU - Gagliardi, Delia. AU - Mauri, Eleonora. AU - Magri, Francesca. AU - Velardo, Daniele. AU - Meneri, Megi. AU - Abati, Elena. AU - Brusa, Roberta. AU - Faravelli, Irene. AU - Piga, Daniela. AU - Ronchi, Dario. AU - Triulzi, Fabio. AU - Peverelli, Lorenzo. AU - Sciacco, Monica. AU - Bresolin, Nereo. AU - Comi, Giacomo Pietro. AU - Corti, Stefania. AU - Govoni, Alessandra. PY - 2019/1/1. Y1 - 2019/1/1. N2 - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A,G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of mitochondrial energy metabolism. Although childhood is the typical age of onset, a small fraction (1-6%) of individuals manifest the disease after 40 years of age and usually ...
A clinicopathologic study was made of 16 patients with amyloidosis and with clinical signs of intestinal pseudo-obstruction. amyloid deposits in the small intestine were proved in all cases by endoscopic or intra-operative biopsies, and immunohistochemical study identified the chemical types of amyloid protein: amyloid A protein (AA) in 13 cases, light chain protein (AL) in two, and beta 2-microglobulin (AH) in one. Clinically, an acute self limiting obstructive condition was evident in 13 cases with AA, and 12 of them returned to normal bowel function after receiving total parenteral nutrition. Two cases with AL and one with AH presented chronic, intermittent, obstructive symptoms, and medical treatment, including total parenteral nutrition, was ineffective with no recovery of intestinal propulsion. Pathological examination of the necropsy specimens in seven cases showed considerable differences in the preferential sites of gastrointestinal deposits between the chemical types of amyloid; ...
Learn more about Intestinal Pseudo-obstruction at Atlanta Outpatient Surgery Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Discusses chronic and acute forms of intestinal pseudo-obstruction and briefly describes symptoms, diagnosis, and treatment of this rare condition.
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Intestinal pseudo-obstruction
A 2-year-old boy presented to our childrens hospital with a 5-day history of fever and 2 days prior to admission he progressively developed a maculopapular rash in thorax and genitals, had erythema and edema in palms and soles, bilateral conjunctival injection, swollen red lips, and a strawberry tongue. On the day of admission he developed a distended and painful abdomen, diarrhea, and vomiting. On examination he was febrile (39.8 C), heart rate was 180 beats/minute, met 5 major clinical diagnostic criteria for KD, and also presented a diffusely distended tender but soft abdomen, with no rebound sign. He received 1 dose of IVIG [2 g/Kg] and was started on acetylsalicylic acid (ASA) [100 mg/Kg/day]. Because of persistent abdominal distention and vomiting, a plain abdominal radiograph was performed which showed air fluid levels with diffuse small bowel loops distention, all of these consistent with an intestinal pseudoobstruction. An abdominal ultrasound revealed gallbladder hydrops, fluid-filled ...
Treatment. There is no specific treatment for individuals with CIP. Treatment is directed toward the specific symptoms that are apparent in each individual, and to support adequate nutritional needs. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric gastroenterologists, surgeons, pain management specialists, psychologists, dietitians, and other healthcare professionals may need to systematically and comprehensively plan an affect individual's treatment.. The specific therapeutic procedures and interventions for individuals with CIP will vary, depending upon numerous factors including the specific symptoms present, the site and extent of the affected portion of the GI tract, an individual's age and overall health, tolerance of certain medications or procedures, personal preference and other factors. Decisions concerning the use of particular therapeutic interventions should be made by physicians and other members of the healthcare team in ...
Authors: G Ravenscroft, S Pannell, G OGrady, R Ong, HC Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, EP Kirk, R Sachdev, DA Lemberg, MB Delatycki, MA Kamm, C Basnayake, PJ Lamont, DJ Amor, K Jones, J Schilperoort, MR Davis, NG Laing
Malignant pheochromocytoma associated with pseudo-obstruction of the colon. Murakami, Soichi; Okushiba, Shun-ichi; Ohno, Koichi; Ito, Kiyotaka; Satou, Kousaku; Sugiura, Hiroshi; Morikawa, Toshiaki; Furukawa, Koji; Kondo, Satoshi; Katoh, Hiroyuki; Nihei, Kazuyoshi // Journal of Gastroenterology;2003, Vol. 38 Issue 2, p175 Effective treatment has not yet been established for intestinal pseudo-obstruction, a rare complication of malignant pheochromocytoma. We report the case of a 41-year-old man who presented with malignant pheochromocytoma associated with pseudo-obstruction of the colon. His serum catecholamine... ...
Intestinal decompression by colonoscopy or tube placement in a small stoma can also be used to reduce distension and pressure within the gut. The stoma may a gastrostomy, enterostomy or cecostomy, and may also be used to feed or flush the intestines. Colostomy or ileostomy can bypass affected parts if they are distal to (come after) the stoma. For instance, if only the large colon that is affected, an ileostomy may be helpful. Resection of affected parts may be needed if part of the gut dies (for instance toxic megacolon), or if there is a localised area of dysmotility. Gastric and colonic pacemakers have been tried. These are strips placed along the colon which create an electric discharge intended to cause the muscle to contract in a controlled manor. There is also a transplant surgery that could be done. It includes taking out six organs which are the pancreas, stomach, small intestine, liver and duodenum. This surgery has only been performed once by Doctor Kareem Abu-Elmagd on Gretchen ...
Dr. Contreras responded: Labs and X-rays. First you have to make sure there arent any other causes of true obstruction. This is done with a combination of x-rays or scans, physical examination, review of the medical history, and laboratory tests. After other causes have been eliminated, then the patient is treated for pseudo-obstruction, also called ogilves syndrome.
Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain etiology that occurs largely in Africa and results in intestinal pseudo-obstruction (IP). In this review of 39 patients from the Western Cape region of South Africa, the mean age at presentation was 9.5 years (range 6 months to 16 years). Characteristic clinical features included a chronic, insidious history of repeated attacks of abdominal distension, abdominal pain, and vomiting. Marked gaseous distension with atony and IP, especially of the colon, was noted on X-ray films. Megacolon was the most common radiologic feature, but pseudo-obstruction extended proximally into the small intestine in some patients with advanced disease. In the majority of cases the condition was progressive and eventually affected the entire gastrointestinal (GI) tract. Histologic features included smooth-muscule degeneration with vacuolated cytoplasm, extracellular edema, and increased fibrosis of both ...
Andrews JM, Brierley SM, Blackshaw LA. Small intestinal motor and sensory function and dysfunction. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtrans Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 96.. Camilleri M. Disorders of gastrointestinal motility. In: Goldman L, Schafer AI, eds. Goldmans Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 136.. Fry RD, Mahmoud NN, Maron DJ, Bleier JIS. Colon and rectum. In: Townsend CM Jr, Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery. 19th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 52. ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Familial visceral myopathy with external ophthalmoplegia
I am 24y old, f., from Germany. I have a long and complex medical history. I have been diagnosed with chronic intestinal pseudoobstruction (diffuse intestinal motility disorder). CIP causes constipation and/or diarrhea, abdominal pain/spasms, nausea, vomiting , inability to eat, malabsorbtion and several other symptoms. It is generally a progressing disease with no cure and limited treatment options. In my case it affects my small bowel, stomach and former colon and urinary bladder with varying degree of severity in these different parts. I have no colon any more and a permanent ileostomy. As I cant empty my bladder by my own I have a suprapubical catheter as well. I also have a Hickman catheter which I use no longer due to my high risk of sepsis and significantly decreased caloric needs. Within the last 6 months I have been experiencing new and fast progressing endocrine/metabolic issues which cannot be adequately explained by an adaption process or general effect secondary to a severe chronic ...
Approval date: Aug. 30,2012. 851199-59-2 CAS NO. L-Cysteinyl-L-cysteinyl-L-glutamyl-L-tyrosyl-L-cysteinyl-L-cysteinyl-L-asparaginyl-L-prolyl-L-alanyl-L-cysteinyl-L-threonylglycyl-L-cysteinyl-L-tyrosine cyclo(1-6),(2-10),(5-13)-tris(disulfide). Linaclotide is a peptide consisting of 14 amino acids. The sequence is. H-Cys1-Cys2-Glu3-Tyr4-Cys5-Cys6-Asn7-Pro8-Ala9-Cys10-Thr11-Gly12-Cys13-Tyr14-OH. There are three disulfide bonds: Between Cys1 and Cys6, between Cys2 and Cys10, and between Cys5 and Cys13.[8]. Linaclotide (marketed under the trade name Linzess) is an experimentalpeptide agonist of guanylate cyclase 2C that is undergoing clinical trials for use in treating abdominal pain in patients with irritable bowel syndrome (IBS) accompanied by constipation. The drug also looks promising in the treatment of gastroparesis, chronic intestinal pseudo-obstruction (CIPO), andinertia coli as well.[1] The drug was developed by Ironwood Pharmaceuticals, based in Cambridge, Massachusetts.. Linaclotide was ...
Temperatures on dry land hovered near 50 degrees this weekend, but according the National Weather Service Weather Forecast Office, Lake Michigans water temperature was a chilly 32 degrees. So if you thought the 15th annual Lakeview Polar Bear Club polar plunge was made easier by a relatively balmy day, youd be wrong. There was still plenty of shrinkage going on.. Organizers say Saturdays polar plunge drew over 300 participants and has raised over $24,000 so far for two local families.. All of the donations will go toward the Garcia family, whose son Dominic has Chronic Intestinal Pseudo-Obstruction (CIPO), and the Linblad family, whose son Nicholas is battling a congenital heart disease. Both families are burdened with mounting medical expenses, and the Lakeview Polar Club hopes to raise $32,000 to help ease some of the financial pressures both families are under.. The organization is still short of their hoped for goal and will be updating their website with news of further donations over ...
The role of ICC as intestinal pacemakers has been clearly established in experimental animal models, which have shown that a lack of ICC networks leads to the absence of slow waves and is accompanied by delayed or absent intestinal motility.27,28 In the upper gastrointestinal tract a lack or paucity of ICC has been found in diseases associated with gastric and small bowel motility (diabetic gastroparesis, chronic intestinal pseudo-obstruction, etc).29,30 Data on human colonic ICC are still scarce, especially in pathological conditions, and chiefly limited to congenital diseases and slow transit constipation.15,16,31 We decided to study diverticular disease because it is a disorder with frequent and measurable alterations of colonic motility.7,8,32 We found that these patients consistently had a significant reduction of all subpopulations of ICC and of enteric glial cells, whereas the enteric neuronal population appeared to be normal. These alterations might explain the colonic motor ...
ABSTRACT. African degenerative leiomyopathy (ADL) is a rare incurable disorder seen in African children, predominantly in southern and south-eastern Africa. ADL presents as chronic intestinal pseudo-obstruction. Management is traditionally conservative, with surgery restricted to the management of complications. We have placed Malone antegrade continence enema (MACE) stomas in the grossly dilated colon to vent accumulated gas and administer antegrade bowel enemas. This is done mainly for relief of gaseous distension and constipation in an attempt to provide symptomatic relief and improve quality of life. In this article, we present our preliminary results of laparoscopically assisted technique to insert a Mic-Key gastrostomy device as a button colostomy in 8 patients over the past 6½ years.. ...
Home parenteral nutrition (HPN) is the gold standard treatment for chronic intestinal failure (CIF), when nutritional requirements are not accomplished by oral or enteral feeding. CIF results either from removal, and/or severe disease of the small intestine leading to short bowel syndrome (SBS), or when the gut is intact but cannot be used by enteral support even when accessed through gastrostomy or jejunostomy (e.g.: chronic intestinal pseudo-obstruction or diseases involving extensive villous atrophy ...
Metabolic & Genetic Information Center Inborn erros of metabolism MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE) POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
150 COLONIC AND ANORECTAL DISEASES Harrisons Manual of Medicine 150 COLONIC AND ANORECTAL DISEASES Irritable Bowel Syndrome (IBS) Diverticular disease Intestinal Pseudoobstruction Vascular Disorders (Small and Large Intestine) Colonic Angiodysplasia Anorectal Diseases Bibliography Irritable Bowel Syndrome (IBS) Characterized by altered bowel habits, abdominal pain, and absence of detectable organic pathology. Most common GI disease in…
22:26, 23 March 2014 (diff , hist) . . (+406)‎ . . Intestinal pseudoobstruction ‎ (→‎Surgical and other procedures: ileostomy and colostomy differences and placement. Addition of redlinks) ...
운동 기능의 저하는 넓게 분류해서 장 폐쇄 혹은 소장 무력증 혹은 마비 때문으로 나눌 수 있다. 하지만, 장 폐쇄의 증상이 있으면서 물리적인 장 폐쇄는 없는 경우가 있는데 이를 "급성 대장성 거짓폐쇄증" (acute colonic pseudoobstruction), 또는 오길비 증후군 (Ogilvies syndrome)이라고 한다.. 장폐쇄 (bowel obstruction)는 위장관이 어떤 물리적인 요인으로 막한 것을 말한다.. 소장의 마비는 마비성 장폐색 (paralytic ileus)이라고 하는데, 완전 마비일 필요는 없으나 내용물이 이동하지 못해 장 폐색을 일으킬 정도로 운동 기능이 저하되어있어야한다. 마비성 장폐색은 특정 수술 후에 흔하게 발생하는 부작용으로, 이때는 "수술 후 장폐색" (postsurgical ileus)이라고도 한다. 약이나 외상, 또는 질환 (급성 췌장염 (acute pancreatitis) 등) 역시 원인 중 하나다. 마비성 장폐색은 변비와 ...
The subacute phase begins when fever, rash, and lymphadenopathy resolve at about one to two weeks after the onset of fever, but irritability, anorexia, and conjunctival injection persist. Gastrointestinal complications in Kawasaki disease are similar to those observed in Henoch-Sch nlein purpura, 69 such as: intestinal obstruction, 76 colon swelling, 77 intestinal ischemia, 78 intestinal pseudo-obstruction, 79 and acute abdomen. This association with tropospheric winds has been shown to be modulated at seasonal and interannual timescales by the El Ni o Southern Oscillation phenomenon, 105 further indicating the agent responsible for the disease is a wind-borne pathogen. Scarlet fever appears similar to Kawasakis disease in some aspects, but lacks the eye signs or the swollen, red fingers and toes. Ankylosing spondylitis is an autoimmune disease and is a type of arthritis of the spine. There is a strong familial association which has been demonstrated. If you notice symptoms, they might include: ...
Paralytic ileus (or adynamic ileus) refers to a lack of passage of intestinal contents due to disturbances of normal intestinal motility, in absense of mechanical obstruction. The most common causes are intra-abdominal surgery, severe metabolic problems, drugs. We present two clinical cases related to patients with breast cancer and admitted with paralytic ileus following treatment with capacitabine in local Lanciano Hospital. Naranjo, Jones algoritms suggest a direct causal relationship. Our two cases, to our knowledge, represent the first published report of this particular intestinal toxicity of capecitabine. Pathophisiological explanation is difficult because no data are known about fluoropyrimidines effects on enteric motor functions (motor system, neural influences, hormonal factors): Tegafur (UFT) also, another oral fluoropyrimidine, induces paralytic ileus. We hypothesize that some 5-flourouracil metabolites (5-fluorocitrate; fluoro-beta-alanine), seldom responsible for central and ...
Many low birthweight premature babies will have feeding difficulties due to various factors related to their gut immaturity. Some of these factors include lower oesophageal sphincter pressure, delayed gastric emptying, and prolonged gastrointestinal transit time.1 Consequently, when these babies are fed by nasogastric tube, they often develop feed intolerance that is usually manifest by gastric aspirates, regurgitation, bile stained aspirates and/or abdominal distension. They may take several days to weeks to tolerate enteral feeds and are subjected to lengthy periods of parenteral nutrition.. Cisapride is a gastrointestinal prokinetic agent that acts by releasing acetylcholine from the nerve terminals of the gut. In children it increases lower oesophageal sphincter pressure,6 enhances gastric emptying,7-9 and increases intestinal transit time.10 11 It has been widely used in children for a variety of conditions including gastro-oesophageal reflux,6 12 13 intestinal pseudo-obstruction,14 15 and ...
Causes of secondary intestinal pseudo-obstruction include abdominal or pelvic surgery, infections, medications such as opiates and antidepressants that affect muscles and nerves.
Genetics Home Reference : 25 Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20 ...
Oxidative Phosphorylation, Phosphorylation, Genes, DNA, Mitochondrial DNA, Mutations, Intestinal Pseudo-obstruction, Mitochondrial Disorders, Patients, Acidosis, Arrhythmia, ATP, Birth, Cardiomyopathies, Cardiomyopathy, Counseling, Dependency, Diagnosis, Disease, Genetic Counseling
TY - JOUR. T1 - De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. AU - Thorson, Willa. AU - Diaz-Horta, Oscar. AU - Foster, Joseph. AU - Spiliopoulos, Michail. AU - Quintero, Ruben A.. AU - Farooq, Amjad. AU - Blanton, Susan. AU - Tekin, Mustafa. PY - 2014/6. Y1 - 2014/6. N2 - Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention for survival. While it is believed to be an autosomal recessive disorder, most cases are sporadic. Through whole-exome sequencing in a child with MMIHS, we identified a de novo mutation, p.R178L, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. We subsequently detected another de novo ACTG2 mutation, p.R178C, in an additional child with MMIHS. Actg2 transcripts were primarily found in murine urinary bladder and intestinal tissues. Structural analysis ...
Large bowel disorders (LBD) impose a substantial burden on Americans, accounting for more than 1% of all inpatient admissions, contributing as comorbidities to other hospitalizations, and resulting in expenditures of more than $20 billion annually, which is likely to increase as the population ages. This chapter describes disorders of ischemic colitis, diverticulitis, acute appendicitis, colonic obstruction, and colonic pseudoobstruction. Other disorders, including lower gastrointestinal bleeding, inflammatory bowel diseases, tumors and cancer of the colon, and diarrhea are described in chapters dedicated to those disorders. Table 162-1 describes key diagnostic tests and therapeutic options for important large bowel disorders, while Table 162-2 describes the colonoscopic findings. ...
Hyponatremia & Paralytic Ileus Symptom Checker: Possible causes include Congestive Heart Failure. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
If the physician observes that your symptoms and signs are created by paralytic ileus, he/she can monitor the condition for a day or 2 in the hospital. Paralytic ileus is usually only a temporary condition that may get better on its own. If paralytic ileus does not improve within several days, the physician can prescribe drugs that cause contractions of the muscle, which is able to help move food as well as fluids thru the intestines. ...
A wise woman with the name of Christy Beam and her family seem to have the answer. She told us all about it, in riveting details, in her book titled Miracles from Heaven: A Little Girl, Her Journey to Heaven, and Her Amazing Story of Healing.. The book is a memoir of how her daughter Annabel, then 10 years of age, recovered from a rare intestinal disease called pseudo-obstruction motility disorder. For a layman like me, it means the disability to digest food. After many months of medical treatment, and continual pain and suffering on that little body, she was basically sent home to die. While playing in her backyard with her older sister, they climbed up a huge but dead cottonwood tree that measured almost 3 stories high. She fell head-down into the hollow of the trunk. It took rescuers 3 hours before they could hoist her out of that narrow pit and flew her to a nearby hospital. She woke up shortly with no serious injuries: no broken bones, no neurological damage, none whatsoever.. After she was ...
A broad discussion on the overall usage and impact of PET/CT over the past decade, including the technical advances of PET/CT scanners, with a focus on digital technology. Attendees will better understand the clinical use over the past few years, and learn about additional radiotracers expected to be available in the near future and hear about the indications, pharmacology, efficacy and imaging of the various newer PET radiotracers.. ...
Following extensive abdominal surgery for the treatment of endometrial or ovarian cancer, paralytic ileus frequently develops. Gum chewing can promotes the return of bowel function through the cephalic-vagal reflex and increased intestinal enzymes secretion.. The objectives of this study are to evaluate effects of adding gum chewing to the conventional postoperative feeding protocol on the return of bowel function, its related complications, and patients satisfaction. ...
The 36-year-old male patient had malaise, headache, myalgias, and arthralgias on day 1 of the illness (August 18, 2014). Fever developed on day 2, and the patient was treated empirically for malaria. On days 2 through 6, he also received empirical antimicrobial therapy with ceftazidime. On day 6, he tested positive for EBOV.......Nausea, vomiting, abdominal pain, and nonbloody diarrhea developed on day 7.....supportive therapy with intravenous fluids was initiated and maintained until day 10, when he was transferred to Hamburg (Germany).. On admission to our facility, the patient was clinically stable, with an elevated temperature (38.4�C), but other vital signs were within normal limits. ....The patient was awake, alert, and fully oriented. Physical examination revealed signs of dehydration and diffuse abdominal tenderness. Rash was absent..... Ultrasonography of the abdomen revealed a complete collapse of the inferior vena cava, a paralytic ileus with pronounced edema of the small intestine ...
Definition of Colonic pseudo-obstruction with photos and pictures, translations, sample usage, and additional links for more information.
Chronic Intestinal Pseudo-obstruction Pediatric and Adolescent Gastrointestinal Motility & Pain Program Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana
In 1988, Hirano was in a neurology training program (residency) at Columbia University.. He remembers the day that year when he and other neurology residents were introduced to two new patients, a brother and sister, both in their 40s and neither weighing more than 90 pounds - a result of abnormalities of the gastrointestinal tract. They both had peripheral nerve abnormalities, droopy eyelids and unusual features in their muscle biopsy samples that suggested malfunctioning mitochondria.. Their disorder seemed like a mitochondrial defect that had been described the previous year called MNGIE syndrome (for mitochondrial neurogastrointestinal encephalomyopathy, denoting abnormalities in the nervous system, gastrointestinal tract, brain and muscles).. But something didnt fit. Disorders resulting from mutations in mitochondrial DNA are inherited through the maternal line. (Mitochondria from the egg, but not the sperm, contribute to a developing embryo at conception.) Mothers who transmit ...