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Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Alessandra Govoni
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 have a less aggressive disease course. The clinical manifestations are variable and mainly depend on the degree of heteroplasmy in the patient's tissues and organs...
2019: Frontiers in Neurology
Shibani Kanungo, Jacob Morton, Mekala Neelakantan, Kevin Ching, Jasmine Saeedian, Amy Goldstein
Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to thrive, blindness, ptosis and ophthalmoplegia, nystagmus, hearing loss, hypoglycemia, diabetes mellitus, learning difficulties, intellectual disability, seizures, stroke-like episodes, spasticity, dystonia, hypotonia, pain, neuropsychiatric symptoms, gastrointestinal reflux, dysmotility, gastrointestinal pseudo-obstruction, cardiomyopathy, cardiac conduction defects, and other endocrine, renal, cardiac, and liver problems...
December 2018: Annals of Translational Medicine
Jessica Piché, Natacha Gosset, Lisa-Marie Legault, Alain Pacis, Andrea Oneglia, Maxime Caron, Philippe Chetaille, Luis Barreiro, Donghai Liu, Xioyan Qi, Stanley Nattel, Séverine Leclerc, Mélanie Breton-Larrivée, Serge McGraw, Gregor Andelfinger
BACKGROUND & AIMS: A generalized human pacemaking syndrome, chronic atrial and intestinal dysrhythmia (CAID) (OMIM 616201), is caused by a homozygous SGO1 mutation (K23E), leading to chronic intestinal pseudo-obstruction and arrhythmias. Because CAID patients do not show phenotypes consistent with perturbation of known roles of SGO1, we hypothesized that noncanonical roles of SGO1 drive the clinical manifestations observed. METHODS: To identify a molecular signature for CAID syndrome, we achieved unbiased screens in cell lines and gut tissues from CAID patients vs wild-type controls...
October 24, 2018: Cellular and Molecular Gastroenterology and Hepatology
Mariusz Chabowski, Mariusz Chabowski, Bartosz Bieganski, Jakub Kobecki, Mateusz Szponder, Dariusz Janczak, Dariusz Janczak
Ogilvie syndrome (acute colonic pseudo-obstruction) represents a clinical condition with symptoms of colonic obstruction without a distinct mechanical factor. The damage to the neural ganglia in the intestinal wall is the most likely etiology. A 62-year man was admitted to the Emergency Department due to acute dyspnea and vomiting. The patient had not defecated for 10 days prior to admission. An angio-CT revealed dilated colon, especially its left part, up to 85 mm with gas inside its lumen. During laparotomy, extremely dilated colon was confirmed with signs of the intestinal wall necrosis...
February 2019: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Yeliz Çağan Appak, Maşallah Baran, Mustafa Onur Öztan, Miray Karakoyun, Soysal Turhan, Cem Tuğmen, Sema Aydoğdu, Cezmi Karaca, Gökhan Köylüoğlu
BACKGROUND/AIMS: Pediatric intestinal pseudo-obstruction (PIPO) is a severe disorder of gut motility. In this rare and difficult-to-manage disease, complex treatment method, such as intestinal transplantation, is sometimes needed. This study evaluated the management and follow-up results of patients with PIPO who received treatment at our center. MATERIALS AND METHODS: The cases of 13 patients with PIPO were reviewed retrospectively. Demographic data, clinical features, etiologies, pharmacological and surgical treatments, nutritional support, anthropometric findings, small bowel transplantation (SBT), and survival rates were assessed...
January 22, 2019: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
Eun Mi Song, Jong Wook Kim, Sun-Ho Lee, Kiju Chang, Sung Wook Hwang, Sang Hyoung Park, Dong-Hoon Yang, Kee Wook Jung, Byong Duk Ye, Jeong-Sik Byeon, Suk-Kyun Yang, Hyo Jeong Lee, Chang Sik Yu, Chan Wook Kim, Seong Ho Park, Jihun Kim, Seung-Jae Myung
Background/Aims: Previous studies from Korea have described chronic intestinal pseudo-obstruction (CIPO) patients with transition zone (TZ) in the colon. In this study, we evaluated the pathological characteristics and their association with long-term outcomes in Korean colonic pseudo-obstruction (CPO) patients with TZ. Methods: We enrolled 39 CPO patients who were refractory to medical treatment and underwent colectomy between November 1989 and April 2016 (median age at symptoms onset: 45 [interquartile range, 29-57] years, males 46...
January 31, 2019: Journal of Neurogastroenterology and Motility
Tsuyoshi Ozawa, Soichiro Ishihara, Yuka Okada, Kohei Ohno, Takahiro Yagi, Yoshihisa Fukushima, Ryu Shimada, Tamuro Hayama, Takeshi Tsuchiya, Keijiro Nozawa, Keiji Matsuda, Ryosuke Matsuoka, Ichiro Mori, Ryuji Fukuzawa, Aki Takiyama, Yoshihiko Takao, Nobuyuki Shimizu, Kiyoshi Kikuchi, Yojiro Hashiguchi
A 47-year-old male patient without a documented past medical history was referred to Sanno Hospital because of constipation and abdominal pain, which he had had for more than 5 years. Abdominal X-ray and CT scan showed an enlarged ascending colon from the cecum to the transverse colon, without apparent mechanical obstruction. The patient was diagnosed with chronic idiopathic colonic pseudo-obstruction, and because his symptoms were resistant to medication, surgical treatment was required. Laparoscopic subtotal colectomy was performed without any complications...
January 7, 2019: Asian Journal of Endoscopic Surgery
Yoichi Akazawa, Takuo Hayashi, Tsuyoshi Saito, Koichiro Niwa, Hirohiko Kamiyama, Noriko Sasahara, Kazuhiro Sakamoto, Akihito Nagahara, Takashi Yao
Eosinophilic myenteric ganglionitis (EMG) is characterised by eosinophilic infiltration of the myenteric plexus. EMG has been rarely reported as a cause of chronic intestinal pseudo-obstruction (CIPO), and its histopathological features are not fully elucidated. We analysed seven patients with CIPO. Three of them were diagnosed with EMG and four patients were categorised as non-EMG. Clinicopathological features were similar in both groups. These features included subtle to mild lymphocytic infiltration at the myenteric ganglia/muscularis propria, loss of myenteric ganglions and interstitial cells of Cajal (ICC), and no significant findings in the mucosa...
January 4, 2019: Virchows Archiv: An International Journal of Pathology
(no author information available yet)
No abstract text is available yet for this article.
January 2019: AORN Journal
Yasutoshi Shiratori, Katsuyuki Fukuda, Takashi Ikeya, Koichi Takagi, Kenji Nakamura
Amyloidosis is a syndrome involving amyloid protein deposition in various organs, resulting in organ dysfunction. Symptoms of gastrointestinal amyloidosis are usually nonspecific, such as diarrhea and body weight loss. We, here, report a patient who presented to the hospital with simultaneous hematemesis, melena, and intestinal pseudo-obstruction, leading to a diagnosis of primary gastrointestinal amyloidosis based on computed tomography (CT) and endoscopic findings. CT showed diffuse wall thickening from the duodenum to the jejunum, jejunal dilation, and fluid accumulation throughout the gastrointestinal tract...
December 20, 2018: Clinical Journal of Gastroenterology
Nicolas Richard, Marie Hudson, Mianbo Wang, Geneviève Gyger, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Murray Baron
Objectives: To examine the incidence, predictors and outcomes associated with severe gastrointestinal (GI) disease in a large inception SSc cohort. Methods: SSc subjects with <2 years of disease duration were identified from two multicentre cohorts. Severe GI disease was defined as: malabsorption, hyperalimentation, pseudo-obstruction and/or ⩾10% weight loss in association with the use of antibiotics for bacterial overgrowth or oesophageal stricture. Kaplan-Meier, multivariate logistic regression and Cox proportional hazard analyses were performed to determine the cumulative incidence rate, independent clinical correlates and mortality rate associated with severe GI disease...
December 4, 2018: Rheumatology
Ömür İlban, Faruk Çiçekçi, Jale Bengi Çelik, Mehmet Ali Baş, Ateş Duman
BACKGROUND/AIMS: When conservative methods fail, neostigmine is recommended in the pharmacological treatment of acute colonic pseudo-obstruction (ACPO). The objective of this study was to analyze the response of patients to different neostigmine protocols. MATERIALS AND METHODS: Patients diagnosed with ACPO in the intensive care unit between January 2015 and September 2017 were retrospectively studied. Either of the two neostigmine protocols, the bolus dose (BD) or continuous infusion (CI), was applied to the ACPO patients who were unresponsive to conservative treatments, and the results were analyzed...
November 20, 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
Susanna Every-Palmer, Stephen J Inns, Eve Grant, Pete M Ellis
BACKGROUND: Gastrointestinal hypomotility in people taking clozapine is common, poorly understood and potentially dangerous. It causes distress and sometimes sudden death, with greater associated morbidity than the better known adverse effect of clozapine, agranulocytosis. Neither the mechanism nor prevalence of clozapine-induced gastrointestinal hypomotility is well understood. Previous studies show clozapine impedes colon transit, likely owing to anticholinergic and anti-serotonergic properties...
November 19, 2018: CNS Drugs
Satoshi Obata, Koichiro Yoshimaru, Kosuke Kirino, Tomoko Izaki, Satoshi Ieiri, Atsuyuki Yamataka, Tsugumichi Koshinaga, Jun Iwai, Hitoshi Ikeda, Hiroshi Matsufuji, Yoshinao Oda, Tomoaki Taguchi
PURPOSE: Acquired isolated hypoganglionosis (A-IH) is a late-onset intestinal pseudo-obstruction disorder and shows different pathophysiological findings from congenital isolated hypoganglionosis (C-IH). In this study, we retrospectively examined five cases of A-IH and investigated the features of A-IH. METHODS: Five cases of A-IH were extracted from a nationwide retrospective cohort study in 10 years, from which totally 355 cases of Allied Disorders of Hirschsprung's Disease (ADHD) were collected...
February 2019: Pediatric Surgery International
Awni D Shahait, Gamal Mostafa
No abstract text is available yet for this article.
January 1, 2018: American Surgeon
Mehmet A Erdogan, Yuksel Seckin, Muhsin M Harputluoglu, Melih Karincaoglu, Murat Aladag, Ali R Caliskan, Yilmaz Bilgic, Oguzhan Yildirim, Yasir F Cagin, Yahya Atayan, Ayse N Cengiz, Cihat Emul, Zeynep Esener, Mehmet F Erbay, Ibrahim Tekedereli
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c...
November 6, 2018: Clinical Dysmorphology
Awni D Shahait, Gamal Mostafa
No abstract text is available yet for this article.
January 1, 2018: American Surgeon
Hong Wang, Ran Jing, Christa Trexler, Yali Li, Huayuan Tang, Zhixiang Pan, Siting Zhu, Beili Zhao, Xi Fang, Jie Liu, Ju Chen, Kunfu Ouyang
BACKGROUND: Inositol 1,4,5-trisphosphate receptors (IP3 Rs) are a family of intracellular Ca2+ release channels located on the membrane of endoplasmic reticulum, which have been shown to play critical roles in various cellular and physiological functions. However, their function in regulating gastrointestinal (GI) tract motility in vivo remains unknown. Here, we investigated the physiological function of IP3 R1 in the GI tract using genetically engineered mouse models. METHODS: Pdgfrb-Cre mice were bred with homozygous Itpr1 floxed (Itpr1f/f ) mice to generate conditional IP3 R1 knockout (pcR1KO) mice...
October 31, 2018: Journal of Gastroenterology
Lucas W Smedley, Dana B Foster, Colleen A Barthol, Reed Hall, G Christina Gutierrez
PURPOSE: To compare clinical response of intermittent bolus versus continuous infusion neostigmine for acute colonic pseudo-obstruction (ACPO). Acute colonic pseudo-obstruction occurs due to reduced colonic parasympathetic activity. Neostigmine is an acetylcholinesterase inhibitor that increases frequency of smooth muscle contraction by increasing acetylcholine at autonomic nervous system synapses. Although these administration modalities have been studied separately, they have never been compared...
October 29, 2018: Journal of Intensive Care Medicine
Serkan Özsoylu, Başak Nur Akyıldız, Adem Dursun
Özsoylu S, Akyıldız BN, Dursun A. Ogilvie syndrome presenting with septic shock. Turk J Pediatr 2018; 60: 225-227. Acute colonic pseudo-obstruction (ACPO) is also known as Ogilvie`s. We report a 10-year-old child with an unremarkable past history who presented with septic shock including hypotension, prolonged capillary refill time, decreased urine output ( < 0.5 ml/kg/h), metabolic acidosis, liver failure, respiratory failure. The symptoms resolved with supportive therapy. In our patient septic shock contributed to Ogilvie syndrome...
2018: Turkish Journal of Pediatrics
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