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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/28386273/acute-colonic-pseudo-obstruction-with-feeding-intolerance-in-critically-ill-patients-a-study-according-to-gut-wall-analysis
#3
Chenyan Zhao, Tingbin Xie, Jun Li, Minhua Cheng, Jialiang Shi, Tao Gao, Fengchan Xi, Juanhong Shen, Chun Cao, Wenkui Yu
Objective. To compare the differences between acute colonic pseudo-obstruction (ACPO) with and without acute gut wall thickening. Methods. ACPO patients with feeding tolerance were divided into ACPO with no obvious gut wall thickening (ACPO-NT) group and ACPO with obvious acute gut wall thickening (ACPO-T) group according to computed tomography and abdominal radiographs. Patients' condition, responses to supportive measures, pharmacologic therapy, endoscopic decompression, and surgeries and outcomes were compared...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#4
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/28376418/a-case-report-of-bloody-pancreatitis
#5
Lemuel Pran, Reena Moonsie, James Byam, Shivraj BahadurSingh, Gurubasavaiah Manjunath, Marlon Seenath, Shanta Baijoo
INTRODUCTION: Haemobilia is an uncommon entity even though its frequency has increased with hepato-biliary instrumentation and procedures. It can be associated with obstructive jaundice and pancreatitis (Green et al., 2001) [1]. Haemobilia following cholecystectomy has frequently been reported in association with hepatic artery pseudo-aneurysm (Curet et al., 1981; Ribeiro et al., 1998) [2,3]. The authors wish to report a case of haemobilia due to a porto-biliary fistula presenting as acute pancreatitis...
March 18, 2017: International Journal of Surgery Case 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
#6
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/28372949/sleep-disordered-breathing-in-neuromuscular-disease-diagnostic-and-therapeutic-challenges
#7
REVIEW
Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
Normal sleep related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity, become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease-specific features that promote upper airway collapse or cause dilated cardiomyopathy, contribute to various sleep-disordered breathing events. The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events...
March 31, 2017: Chest
https://www.readbyqxmd.com/read/28372348/unusual-histology-of-eosinophilic-myenteric-ganglionitis-a-case-report
#8
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/28363367/straight-back-syndrome
#9
REVIEW
Cameron D Wright
Straight back syndrome is a rare condition usually associated with mitral valve prolapse and "pseudo-heart disease" caused by a very narrow anterior-posterior chest due to the loss of the normal dorsal curvature of the thoracic spine. More rarely, the narrowed upper chest may compress the trachea causing extrinsic tracheal obstruction. If severe enough, this requires operative repair by effectively opening up the upper chest by a variety of techniques to allow the trachea enough room to avoid compression.
May 2017: Thoracic Surgery Clinics
https://www.readbyqxmd.com/read/28319561/pediatric-enteric-neuropathies-diagnosis-and-current-management
#10
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
#11
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
#12
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/28282011/ogilvie-s-syndrome-or-colonic-pseudo-obstruction
#13
Christine C Toevs, Kyle Mazellan, Roland Kohr
No abstract text is available yet for this article.
February 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28277856/electrical-therapies-for-gastrointestinal-motility-disorders
#14
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
#15
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/28269663/directionally-sensitive-peripheral-nerve-recording-bipolar-nerve-cuff-design
#16
Parisa Sabetian, Milos R Popovic, Paul B Yoo
Although bipolar nerve cuff electrodes (NCEs) are used in clinical neurostimulation therapies (e.g., epilepsy, obstructive sleep apnea), the use of this electrode as part of a closed-up controlled system is very limited. The literature points to high noise content (i.e., poor signal-to-noise ratio, SNR) as the primary reason for not using bipolar NCEs to record neural activity. In fact, over the past several decades, the pseudo-tripolar NCEs, the symmetric configuration of this electrode array (i.e., electrically-shorted side contacts) makes it very difficult to obtain directional information from the recorded neural activity (efferent vs...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28258656/a-novel-missense-mutation-q495k-of-slc26a3-gene-identified-in-a-chinese-child-with-congenital-chloride-losing-diarrhoea
#17
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/28257284/pharmacogenomics-and-tailored-polypharmacy-an-80-year-old-lady-with-rosuvastatin-associated-rhabdomyolysis-and-maprotiline-related-ogilvie-s-syndrome%C3%A2
#18
Katherina B Sreter, Blazenka Barisic, Sanja Popovic-Grle
What is known and objectives: Multiple adverse drug reactions (ADRs) are expected, and thus should be prevented in the elderly comorbid patient on polypharmacy. Rosuvastatin is commonly prescribed for the treatment and prevention of atherosclerotic diseases, and in rare cases, is associated with rhabdomyolysis. Maprotiline is a tetracyclic antidepressant, infrequently used in the United States, but seemingly more broadly in European countries. Acute colonic pseudo-obstruction (Ogilvie's syndrome) caused by maprotiline has thus far, to our knowledge, not yet been described in the literature...
March 3, 2017: International Journal of Clinical Pharmacology and Therapeutics
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
#19
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/28228208/ogilvie-s-syndrome-or-colonic-pseudo-obstruction
#20
Christine C Toevs, Kyle Mazellan, Roland Kohr
No abstract text is available yet for this article.
February 1, 2017: American Surgeon
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