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Pseudo pseudo intestinal obstruction

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https://www.readbyqxmd.com/read/28428218/gain-of-function-mutation-in-filamin-a-potentiates-platelet-integrin-%C3%AE-iib%C3%AE-3-activation
#1
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Virginie Planche, Patricia Fergelot, Odile Issertial, Isabelle Coupry, Jean-Claude Bordet, Paquita Nurden, Dominique Bonneau, Estelle Colin, Cyril Goizet, Jean-Philippe Rosa, Marijke Bryckaert
OBJECTIVE: Dominant mutations of the X-linked filamin A (FLNA) gene are responsible for filaminopathies A, which are rare disorders including brain periventricular nodular heterotopia, congenital intestinal pseudo-obstruction, cardiac valves or skeleton malformations, and often macrothrombocytopenia. APPROACH AND RESULTS: We studied a male patient with periventricular nodular heterotopia and congenital intestinal pseudo-obstruction, his unique X-linked FLNA allele carrying a stop codon mutation resulting in a 100-amino acid-long FLNa C-terminal extension (NP_001447...
April 20, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28422808/diagnosis-of-chronic-intestinal-pseudo-obstruction-megacystis-by-sequencing-the-actg2-gene
#2
Aubrey Milunsky, Clinton Baldwin, Xiaoying Zhang, Daniel Primack, Adrian Curnow, Jeff Milunsky
OBJECTIVES: The diagnosis of chronic intestinal pseudo-obstruction (CIPO) has depended on clinical features, manometry, and imaging. This report aimed to determine the efficacy of sequencing the ACTG2 gene for diagnosis. In addition, the goal was to determine how often a mutation would be found in our randomly collected cohort of probands and those probands published previously. METHODS: Whole exome sequencing was performed in 4 probands with CIPO. Subsequently, only the ACTG2 gene was sequenced in another 24 probands (total 28)...
April 18, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#3
J Politei, C Durand, A B Schenone, A Torres, J Mukdsi, B L Thurberg
Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in two unrelated patients with Fabry disease and the possible explanation of a direct relation of these two disorders. In Fabry disease, gastrointestinal symptoms occur in approximately 70% of male patients, but the frequency ranges from 19% to 69% in different series...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28374487/gastric-neuromuscular-histology-in-patients-with-refractory-gastroparesis-relationships-to-etiology-gastric-emptying-and-response-to-gastric-electric-stimulation
#4
J Heckert, R M Thomas, H P Parkman
BACKGROUND: The aims of this study were to describe the histology in gastroparesis, specifically to relate histopathology to etiology of gastroparesis (idiopathic and diabetic gastroparesis), gastric emptying, and clinical response to gastric electric stimulation. METHODS: Full thickness gastric body sections obtained during insertion of gastric stimulator in gastroparetics were stained with Hematoxylin & Eosin, Masson Trichrome and immunohistochemical stains for Neuron-Specific Enolase and c-Kit...
April 4, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28372348/unusual-histology-of-eosinophilic-myenteric-ganglionitis-a-case-report
#5
Hye-Kyung Lee, Dong-Wook Kang, Hee Jin Kim, Byung-Sun Cho, Je-Ho Jang
Eosinophilic myenteric ganglionitis is a disorder characterized by infiltration of the Auerbach myenteric plexus by eosinophils. As a cause of chronic intestinal pseudo-obstruction (CIPO), eosinophilic myenteric ganglionitis has been rarely reported and the majority of the reported cases in the literature were children. We experienced a case of eosinophilic myenteric ganglionitis associated with CIPO in a 53-year-old female patient. Histologic examination of the resected descending colon showed moderate eosinophilic infiltrates with hypogangliosis in the myenteric plexus...
April 4, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28319561/pediatric-enteric-neuropathies-diagnosis-and-current-management
#6
Maggie L Westfal, Allan M Goldstein
PURPOSE OF REVIEW: Neurointestinal diseases are increasingly recognized as causes of significant gastrointestinal morbidity in children. This review highlights the most common pediatric enteric neuropathies and their diagnosis and management, emphasizing insights and discoveries from the most recent literature available. RECENT FINDINGS: The embryologic and histopathologic causes of enteric neuropathies are varied. They range from congenital aganglionosis in Hirschsprung disease, to autoimmune-mediated loss of neuronal subtypes in esophageal achalasia and Chagas disease, to degenerative neuropathies in some cases of chronic intestinal pseudo-obstruction and gastroparesis...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#7
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28285209/acute-large-bowel-pseudo-obstruction-due-to-atrophic-visceral-myopathy-a-case-report
#8
Sean M Wrenn, Charles S Parsons, Michelle Yang, Ajai K Malhotra
PURPOSE: Atrophic visceral myopathy is a pathological diagnosis characterized by atrophy of the smooth muscle layers of the viscera with intact ganglia. Rarely, it can present acutely as an intestinal pseudo-obstruction. We describe a rare case report and explore how this diagnosis can be distinguished from other forms of intestinal obstruction. CASE DESCRIPTION: A 60-year-old male with a past medical history of hypothyroidism presented to the emergency department with a two-day history of worsening abdominal distention and pain associated with nausea and vomiting...
February 27, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28277856/electrical-therapies-for-gastrointestinal-motility-disorders
#9
Jiande D Z Chen, Jieyun Yin, Wei Wei
INTRODUCTION: Gastrointestinal (GI) motility disorders are common in clinical settings, including esophageal motility disorders, gastroesophageal reflux disease, functional dyspepsia, gastroparesis, chronic intestinal pseudo-obstruction, post-operative ileus, irritable bowel syndrome, diarrhea and constipation. While a number of drugs have been developed for treating GI motility disorders, few are currently available. Emerging electrical stimulation methods may provide new treatment options for these GI motility disorders...
March 21, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28277347/respiratory-failure-due-to-intestinal-pseudo-obstruction-in-systemic-sclerosis
#10
Yasuyuki Kamata, Seiji Minota
No abstract text is available yet for this article.
April 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28258656/a-novel-missense-mutation-q495k-of-slc26a3-gene-identified-in-a-chinese-child-with-congenital-chloride-losing-diarrhoea
#11
Hongmei Guo, Bi-Xia Zheng, Yu Jin
A partially-breastfed male baby aged 11 months and 22 days was admitted as he had been passing loose stools since birth and had experienced occasional vomiting and failure to thrive. He passed watery stools 8-10 times per day, but there was no blood or mucous. The parents were healthy and their marriage was nonconsanguineous. The antenatal and birth history included polyhydramnios and premature delivery at 35 weeks of gestation. The baby's birthweight was 2.3kg (P23). He was hospitalised several times for persistent diarrhoea before coming to our hospital, but had no episodes of intestinal pseudo-obstruction...
March 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28229828/successful-treatment-of-a-refractory-dysbiotic-intestinal-pseudo-obstruction-in-a-patient-with-systemic-sclerosis-polymyositis-overlap-syndrome-by-intravenous-immunoglobulin-administration-possibly-related-to-gut-flora-normalisation
#12
Risa Kamei, Toshifumi Yamaoka, Kuniko Ikinaga, Hiroyuki Murota, Kentaro Shimizu, Ichiro Katayama
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January 31, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28104121/liver-failure-from-ultra-short-bowel-syndrome-on-the-intestinal-transplant-waiting-list-a-retrospective-study
#13
Y Noguchi, T Ueno, R Matsuura, T Kodama, K Deguchi, S Umeda, T Yamamichi, K Nakahata, M Zenitani, Y Takama, H Yamanaka, Y Tazuke, H Okuyama
BACKGROUND: Patients with intestinal failure (IF) are candidates for intestinal transplantation (ITx). In Japan, these patients have few opportunities to undergo cadaveric ITx because of low rates of organ donation. The donor criteria and recipient priority for ITx are still unknown. We reviewed our cases of IF to investigate which patients should be prioritized for ITx. METHODS: Patients with IF who were registered as candidates for cadaveric ITx between January 2010 and November 2015 in our institute were included in this retrospective study...
January 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28043906/heterotrimeric-g-stimulatory-protein-%C3%AE-subunit-is-required-for%C3%A2-intestinal-smooth-muscle-contraction-in-mice
#14
Xiaoteng Qin, Shangming Liu, Qiulun Lu, Meng Zhang, Xiuxin Jiang, Sanyuan Hu, Jingxin Li, Cheng Zhang, Jiangang Gao, Min-Sheng Zhu, Yun Zhang, Wencheng Zhang
BACKGROUND & AIMS: The α subunit of the heterotrimeric G stimulatory protein (Gsa), encoded by the guanine nucleotide binding protein, α-stimulating gene (Gnas, in mice), is expressed ubiquitously and mediates receptor-stimulated production of cyclic adenosine monophosphate and activation of the protein kinase A signaling pathway. We investigated the roles of Gsa in vivo in smooth muscle cells of mice. METHODS: We performed studies of mice with Cre recombinase-mediated disruption of Gnas in smooth muscle cells (Gsa(SMKO) and SM22-CreER(T2), induced in adult mice by tamoxifen)...
December 30, 2016: Gastroenterology
https://www.readbyqxmd.com/read/28043313/ogilvie-s-syndrome
#15
Muhammad Waqas Khan, Sanniya Khan Ghauri, Sara Shamim
Ogilvie's syndrome, also known as 'paralytic ileus of the colon', is characterised by pseudo-obstruction of the large intestine in the absence of any mechanical obstructing component; and presents as a massively distended abdomen. If left untreated, it may lead to bowel perforation or ischemia. Ogilvie's syndrome usually presents as a postsurgical complication, mainly due to the lack and/or restriction of movement coupled with a possible electrolyte imbalance. Here, we present a case of a pre-surgical 63-year lady, having a right hip fracture, who came with complaints of severe abdominal pain and distension for 4 days...
December 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28025959/hypokalemia-associated-with-acute-colonic-pseudo-obstruction-in-an-esrd-patient
#16
Khaled Boobés, Robert M Rosa, Daniel Batlle
Ogilvie's syndrome, or acute colonic pseudo-obstruction, is characterized by massive dilation of the colon without mechanical obstruction. Water and electrolytes often can be sequestered in the dilated intestinal loops resulting in profuse and watery diarrhea as well as hypokalemia. We report an anuric, end-stage renal disease (ESRD) patient undergoing peritoneal dialysis (PD) who developed acute colonic pseudo-obstruction causing a prolonged hospitalization. He also developed severe hypokalemia with a serum potassium (K+) as low as 2...
December 27, 2016: Clinical Nephrology
https://www.readbyqxmd.com/read/27862707/pharmacotherapy-for-pediatric-chronic-intestinal-pseudo-obstruction-nationwide-survey-in-japan
#17
Naoki Hashizume, Minoru Yagi, Kosuke Ushijima, Yoshitaka Seki, Suguru Fukahori, Mitsuru Muto, Hiroshi Matsufuji, Tomoaki Taguchi
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare disabling and life-threatening disorder characterized by severe impairment of gastrointestinal peristalsis. While a number of pharmacotherapeutics have been developed, only a few trials have been carried out for improvement of the pathological condition of CIPO patients. This report describes the results of a nationwide survey on the pharmacotherapy used in pediatric CIPO in Japan. METHODS: In 2012, a nationwide survey was conducted to identify the clinical presentation of CIPO in Japan...
November 12, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27765806/perforated-jejunal-diverticulum-a-rare-case-of-acute-abdomen
#18
Rishabh Sehgal, Cherry X Cheung, Tristram Hills, Aqueel Waris, Donagh Healy, Tahir Khan
Jejunal pseudo-diverticulosis is a rare acquired herniation of the mucosa and submucosa through weakened areas of the muscularis mucosa of the mesenteric aspect of the bowel. They are asymptomatic in the majority of cases; however, they can present with a wide spectrum of non-specific symptoms such as chronic abdominal discomfort, postprandial flatulence, diarrhoea, malabsorption and steattorhoea. In up to 15% of cases, more serious acute complications may arise such as the development of intestinal obstruction, haemorrhage or as in our case, localized peritonitis secondary to perforation...
October 7, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27729404/laboratory-monitoring-of-children-on-home-parenteral-nutrition-a-prospective-study
#19
Amber Smith, Mary Beth Feuling, Catherine Larson-Nath, Catherine Karls, Megan Van Hoorn, Cassandra L S Walia, Carly Leon, Elaine Danner, Pam Opichka, Lori Duesing, Alfonso Martinez, Praveen S Goday
BACKGROUND: The primary hypothesis of this article is that a team approach in creating a protocolized laboratory monitoring schedule for home parenteral nutrition (PN) patients improves patient safety by decreasing the occurrence of nutrition deficiencies and is cost-effective. METHODS: In this prospective cohort study of home PN patients, each patient followed an established protocol of laboratory monitoring and weekly review by an interdisciplinary team of dietitians, nurses, and physicians...
October 11, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27720179/two-new-mutations-of-the-clmp-gene-identified-in-a-newborn-presenting-congenital-short-bowel-syndrome
#20
Lucile Gonnaud, Maria M Alves, Clara Cremillieux, Kareen Billiemaz, Sylvie Destombe, François Varlet, Manuel Lopez, Laurène Trapes, Renaud Touraine, Robert M W Hofstra, Hugues Patural
Congenital short-bowel syndrome (CSBS) is a rare neonatal pathology associated with poor prognosis and high mortality rate. We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). Both mutations are predicted to be pathogenic, leading to impaired splicing and the appearance of a premature stop codon, respectively...
December 2016: Clinics and Research in Hepatology and Gastroenterology
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