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https://www.readbyqxmd.com/read/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#1
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29766276/anti-ganglionic-achr-antibodies-in-japanese-patients-with-motility-disorders
#2
Akihiro Mukaino, Hitomi Minami, Hajime Isomoto, Hitomi Hamamoto, Eikichi Ihara, Yasuhiro Maeda, Osamu Higuchi, Tohru Okanishi, Yohei Kokudo, Kazushi Deguchi, Fumisato Sasaki, Toshihito Ueki, Ken-Ya Murata, Takeshi Yoshida, Mistuyo Kinjo, Yoshihiro Ogawa, Akio Ido, Hidenori Matsuo, Kazuhiko Nakao, Shunya Nakane
BACKGROUND: The existence of several autoantibodies suggests an autoimmune basis for gastrointestinal (GI) dysmotility. Whether GI motility disorders are features of autoimmune autonomic ganglionopathy (AAG) or are related to circulating anti-ganglionic acetylcholine receptor (gAChR) antibodies (Abs) is not known. The aim of this study was to determine the associations between autonomic dysfunction, anti-gAChR Abs, and clinical features in patients with GI motility disorders including achalasia and chronic intestinal pseudo-obstruction (CIPO)...
May 15, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29755106/a-rare-case-of-adult-onset-rectosigmoid-hypoganglionosis
#3
Mohammed Yousef Aldossary, Antonio Privitera, Obai Elzamzami, Nemat Alturki, Khalid Sabr
BACKGROUND Intestinal hypoganglionosis is very rare and accounts for 3% to 5% of all classified congenital intestinal innervation disorders. Isolated hypoganglionosis of the colon is a particularly rare form of the disease, and differential diagnosis includes association with Hirschsprung's disease and chronic intestinal pseudo-obstruction (CIPO) related to visceral myopathies. Most cases are diagnosed at an early age or in childhood with only a few cases reported in adults. CASE REPORT We report a case of isolated hypoganglionosis of the rectum and sigmoid presenting as an emergency with acute intestinal obstruction in a 20-year-old male patient...
May 14, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29749332/myotonic-dystrophy-type-1-and-pseudo-obstruction-in-a-child-with-smooth-muscle-%C3%AE-actin-deficiency-and-eosinophilic-myenteric-plexitis
#4
Gloria Pelizzo, Valeria Calcaterra, Vincenzo Villanacci, Giovanni Battista Mura, Gabrio Bassotti
Myotonic dystrophy (MD) frequently involves the gastrointestinal tract, where it can manifest as chronic intestinal pseudo-obstruction (CIPO), particularly in adults. This manifestation is quite uncommon in children. We report the case of a 12-year-old boy with MD type 1 and CIPO, in which a pathologic assessment revealed an association with smooth muscle α-actin deficiency in the external muscular layer of the ileum, and with features of eosinophilic plexitis and eosinophilic muscle infiltration in the colon...
March 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29690886/loss-of-alpha-smooth-muscle-actin-expression-associated-with-chronic-intestinal-pseudo-obstruction-in-a-young-miniature-bull-terrier
#5
Gian Enrico Magi, Francesca Mariotti, Sara Berardi, Andrea Piccinini, Cecilia Vullo, Angela Palumbo Piccionello, Giacomo Rossi
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare clinical syndrome in veterinary medicine characterized by severe intestinal dysmotility without evidence of mechanical occlusion of the intestinal lumen. The exact pathogenesis of CIPO is unknown. CASE PRESENTATION: A 1-year-old male Miniature Bull Terrier dog was presented with a history of chronic weight loss, regurgitation, lethargy, vomiting and diarrhea. The dog was submitted for exploratory laparotomy...
April 24, 2018: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/29665489/management-impacts-on-fire-occurrence-a-comparison-of-fire-regimes-of-african-and-south-american-tropical-savannas-in-different-protected-areas
#6
Swanni T Alvarado, Thiago Sanna Freire Silva, Sally Archibald
Humans can alter fire dynamics in grassland systems by changing fire frequency, fire seasonality and fuel conditions. These changes have effects on vegetation structure and recovery, species composition, and ecosystem function. Understanding how human management can affect fire regimes is vital to detect potential changes in the resilience of plant communities, and to predict vegetation responses to human interventions. We evaluated the fire regimes of two recently protected areas in Madagascar (Ibity and Itremo NPA) and one in Brazil (Serra do Cipó NP) before and after livestock exclusion and fire suppression policies...
April 14, 2018: Journal of Environmental Management
https://www.readbyqxmd.com/read/29570554/paediatric-intestinal-pseudo-obstruction-evidence-and-consensus-based-recommendations-from-an-espghan-led-expert-group
#7
Nikhil Thapar, Efstratios Saliakellis, Marc A Benninga, Osvaldo Borrelli, Joe Curry, Christophe Faure, Roberto De Giorgio, Girish Gupte, Charles H Knowles, Annamaria Staiano, Yvan Vandenplas, Carlo Di Lorenzo
OBJECTIVES: Chronic intestinal pseudo-obstructive (CIPO) conditions are considered the most severe disorders of gut motility. They continue to present significant challenges in clinical care despite considerable recent progress in our understanding of pathophysiology, resulting in unacceptable levels of morbidity and mortality. Major contributors to the disappointing lack of progress in paediatric CIPO include a dearth of clarity and uniformity across all aspects of clinical care from definition and diagnosis to management...
March 22, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29413013/nutritional-interventions-in-chronic-intestinal-pseudoobstruction
#8
REVIEW
Donald F Kirby, Sulieman Abdal Raheem, Mandy L Corrigan
Although chronic intestinal pseudo-obstruction (CIPO) is a rare disorder, it presents a wide spectrum of severity that ranges from abdominal bloating to severe gastrointestinal dysfunction. In the worst cases, patients may become dependent upon artificial nutrition via parenteral nutrition or choose to have an intestinal transplant. However, whatever the severity, a patient's quality of life can be seriously compromised. This article defines the disorder and discusses the spectrum of disease and challenges to providing adequate nutrition to help improve a patient's quality of life...
March 2018: Gastroenterology Clinics of North America
https://www.readbyqxmd.com/read/29143474/chronic-intestinal-pseudo-obstruction-progress-in-management
#9
REVIEW
G Di Nardo, T B Karunaratne, S Frediani, R De Giorgio
Chronic intestinal pseudo-obstruction (CIPO) is a severe form of gastrointestinal dysmotility (often due to derangement of the innervation/smooth muscle/interstitial cells of Cajal) with recurrent episodes of intestinal subocclusion mimicking a mechanical obstruction. Because of its complexity and heterogeneity, CIPO is often misdiagnosed or remains unrecognized until advanced stages. Management is a critical aspect in CIPO patient care. So far, most prokinetic drugs have not proven efficacy in restoring intestinal propulsion, thus nutritional support, fluid/electrolyte replacement, and antibiotics are the mainstay of treatment...
December 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29099043/involvement-of-opioid-system-trpm8-and-asic-receptors-in-antinociceptive-effect-of-arrabidaea-brachypoda-dc-bureau
#10
Vinícius Peixoto Rodrigues, Cláudia Quintino da Rocha, Larissa Lucena Périco, Raquel de Cássia Dos Santos, Rie Ohara, Catarine Massucato Nishijima, Emerson Ferreira Queiroz, Jean-Luc Wolfender, Lúcia Regina Machado da Rocha, Adair Roberto Soares Santos, Wagner Vilegas, Clélia Akiko Hiruma-Lima
Arrabidaea brachypoda (DC) Bureau is a medicinal plant found in Brazil. Known as "cipó-una", it is popularly used as a natural therapeutic agent against pain and inflammation. This study evaluated the chemical composition and antinociceptive activity of the dichloromethane fraction from the roots of A. brachypoda (DEAB) and its mechanism of action. The chemical composition was characterized by high-performance liquid chromatography, and this fraction is composed only of dimeric flavonoids. The antinociceptive effect was evaluated in formalin and hot plate tests after oral administration (10-100 mg/kg) in male Swiss mice...
November 2, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29089268/oesophageal-motor-function-in-chronic-intestinal-idiopathic-pseudo-obstruction-a-study-with-high-resolution-manometry
#11
Aurelio Mauro, Guido Basilisco, Marianna Franchina, Alessandra Elvevi, Delia Pugliese, Dario Conte, Roberto Penagini
BACKGROUND: Chronic intestinal idiopathic pseudo-obstruction (idiopathic CIPO) is a rare heterogeneous condition for which the different phenotypes are difficult to be established. Oesophageal motility has shown to be impaired in patients with idiopathic CIPO at traditional manometry, whereas no studies have assessed it by high resolution manometry (HRM). AIMS: To evaluate oesophageal motility by HRM in patients with idiopathic CIPO. METHODS: 14 patients with idiopathic CIPO underwent oesophageal HRM...
February 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29024177/differential-regulation-of-two-flna-transcripts-explains-some-of-the-phenotypic-heterogeneity-in-the-loss-of-function-filaminopathies
#12
Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, Margriet van Kogelenberg, Tim Morgan, Sophia Frentz, Wenhua Wei, Jacek Pilch, Mark Hannibal, Nicola Foulds, George McGillivray, Richard J Leventer, Sixto García-Miñaúr, Stuart Sugito, Scott Nightingale, David M Markie, Tracy Dudding, Raj P Kapur, Stephen P Robertson
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5' end of the gene can present with CIPO alone. Here, we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N-terminus initiated at ATG+1 and ATG+82 ...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#13
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28883237/chronic-intestinal-pseudo-obstruction-and-orthostatic-hypotension-associated-with-small-cell-lung-cancer-that-improved-with-tumor-reduction-after-chemoradiotherapy
#14
Yusuke Izumi, Takeshi Masuda, Yasushi Horimasu, Taku Nakashima, Shintaro Miyamoto, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada, Noboru Hattori
Chronic intestinal pseudo-obstruction (CIPO) is a rare disease with symptoms of ileus without obstruction. Most cases of CIPO are idiopathic, and CIPO as a paraneoplastic neurological syndrome (PNS) associated with small cell lung cancer (SCLC) is rare. A 63-year-old man was diagnosed with functional ileus and confined to bed due to orthostatic hypotension. Chest computed tomography revealed a right hilar mass suspected of being lung cancer. Based on detailed examinations, he was diagnosed with limited-stage SCLC...
October 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28681569/diagnostic-use-of-endoscopic-full-thickness-wall-resection-eftr-a-novel-minimally-invasive-technique-for-colonic-tissue-sampling-in-patients-with-severe-gastrointestinal-motility-disorders
#15
P V Valli, D Pohl, M Fried, R Caduff, P Bauerfeind
BACKGROUND: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis...
January 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28631871/efficacy-of-percutaneous-endoscopic-gastro-jejunostomy-peg-j-decompression-therapy-for-patients-with-chronic-intestinal-pseudo-obstruction-cipo
#16
H Ohkubo, A Fuyuki, J Arimoto, T Higurashi, T Nonaka, Y Inoh, H Iida, M Inamori, T Kaneda, A Nakajima
BACKGROUNDS: Chronic intestinal pseudo-obstruction (CIPO) is an intractable rare digestive disease manifesting persistent small bowel distension without any mechanical cause. Intestinal decompression is a key treatment, but conventional method including a trans-nasal small intestinal tube is invasive and painful. Therefore, a less invasive and tolerable new decompression method is urgently desired. We conducted a pilot study and assessed the efficacy and safety of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy in CIPO patients...
December 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28562788/economic-valuation-of-the-ecosystem-services-provided-by-a-protected-area-in-the-brazilian-cerrado-application-of-the-contingent-valuation-method
#17
F M Resende, G W Fernandes, D C Andrade, H D Néder
Considering that the economic valuation of ecosystem services is a useful approach to support the conservation of natural areas, we aimed to estimate the monetary value of the benefits provided by a protected area in southeast Brazil, the Serra do Cipó National Park. We calculated the visitor's willingness to pay to conserve the ecosystems of the protected area using the contingent valuation method. Located in a region under intense anthropogenic pressure, the Serra do Cipó National Park is mostly composed of rupestrian grassland ecosystems, in addition to other Cerrado physiognomies...
November 2017: Brazilian Journal of Biology, Revista Brasleira de Biologia
https://www.readbyqxmd.com/read/28422808/diagnosis-of-chronic-intestinal-pseudo-obstruction-and-megacystis-by-sequencing-the-actg2-gene
#18
Aubrey Milunsky, Clinton Baldwin, Xiaoying Zhang, Daniel Primack, Adrian Curnow, Jeff Milunsky
OBJECTIVES: The diagnosis of chronic intestinal pseudo-obstruction has depended on clinical features, manometry, and imaging. This report aimed to determine the efficacy of sequencing the actin γ-2 (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 chronic intestinal pseudo-obstruction...
October 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28372348/unusual-histology-of-eosinophilic-myenteric-ganglionitis-a-case-report
#19
Hyekyung Lee, Dongwook Kang, Heejin Kim, Byungsun Cho, Jeho 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...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/27885350/a-case-of-dermatomyositis-and-anti-ej-autoantibody-with-chronic-intestinal-pseudoobstruction-successfully-treated-with-octreotide
#20
Chiho Yamada, Shinji Sato, Noriko Sasaki, Takayoshi Kurabayashi, Sho Sasaki, Yasushi Koyama, Naofumi Chinen, Takayuki Wakabayashi, Yasuo Suzuki
Chronic intestinal pseudoobstruction (CIPO) is a serious complication in patients with connective tissue disease (CTD) and is sometimes life-threatening or fatal despite intensive medical treatment. Here, we report a patient with dermatomyositis (DM) and anti-EJ autoantibody who developed CIPO that was improved by octreotide. Because her abdominal pain and bloatedness were so severe and persistent, we introduced octreotide to relieve symptoms. In this case, continuous intravenous administration as well as long-acting subcutaneous injection of octreotide was effective for treating CIPO...
2016: Case Reports in Rheumatology
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