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Congenital diarrhea

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https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#1
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28644346/twelve-novel-mutations-in-the-slc26a3-gene-in-17-sporadic-cases-of-congenital-chloride-diarrhea
#2
Felice Amato, Giuseppe Cardillo, Renato Liguori, Manuela Scorza, Marika Comegna, Ausilia Elce, Sonia Giordano, Laura Lucaccioni, Licia Lugli, Sabrina Cardile, Claudio Romano, Vincenza Pezzella, Giuseppe Castaldo, Roberto Berni Canani
OBJECTIVES: We aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and emphasize the importance of functional studies to define the effect of novel mutations. METHODS: All member 3 of solute carrier family 26 (SLC26A3) coding regions were sequenced in 17 sporadic patients with CCD. Moreover, the minigene system was used to analyze the effect of 2 novel splicing mutations. RESULTS: We defined the SLC26A3 genotype of all 17 patients with CCD and identified 12 novel mutations...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28500579/robotic-repair-of-a-right-sided-bochdalek-hernia-a-case-report-and-literature-review
#3
Amani Jambhekar, Shawn Robinson, Brian Housman, James Nguyen, Kevin Gu, Vadim Nakhamiyayev
BACKGROUND: Bochdalek hernias (BHs) are usually diagnosed in the neonatal period, occurring in 1/2200-1/12,500 live births. There are few reported cases of BHs in adults. Robotic repair has not been described in current literature as opposed to the laparoscopic approach. Here we present a case of an adult with clinical signs of bowel obstruction secondary to a BH which was repaired using a robotic approach. CASE REPORT: A 74-year-old gentleman with past medical history of benign prostatic hyperplasia presented to the emergency department with a 1-week history of nausea, vomiting, diarrhea, and decline in appetite...
May 12, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28482385/-a-multicenter-randomized-controlled-study-of-saccharomyces-boulardii-in-the-prevention-of-antibiotic-associated-diarrhea-in-infants-and-young-children
#4
C M Wan, H Yu, G Liu, H M Xu, Z Q Mao, Y Xu, Y Jin, R P Luo, W J Wang, F Fang
Objective: To evaluate the efficacy and safety of Saccharomyces boulardii in the prevention of antibiotic-associated diarrhea (AAD) in infants and young children. Method: From November 2012 to September 2013, ten research units of large teaching hospitals or children's hospitals participated in this multicenter randomized controlled clinical trial. Hospitalized young children aged between 1 month and 3 years (nongastrointestinal infection and antibiotic therapy required)were involved in our study. The children were randomly divided into control group and prevention group by means of block random allocation method...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28443948/relapse-of-congenital-thrombotic-thrombocytopenic-purpura-after-spontaneous-remission-in-a-second-trimester-primigravida-case-report-and-review-of-the-literature
#5
Donavan de Souza Lúcio, Jacqueline Foelkel Pignatari, Marcelo Gil Cliquet, Henri Augusto Korkes
CONTEXT: Thrombotic microangiopathy syndrome or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) describes distinct diseases sharing common pathological features: microangiopathic hemolytic anemia and thrombocytopenia, without any other apparent cause. CASE REPORT: An 18-year-old second-trimester primigravida presented with a history of fifteen days of intense weakness, followed by diarrhea over the past six days. She reported having had low platelets since childhood, but said that she had never had bleeding or menstrual abnormalities...
April 20, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28429903/causes-of-interruptions-in-postoperative-enteral-nutrition-in-children-with-congenital-heart-disease
#6
Jirong Qi, Zhuo Li, Yueshuang Cun, Xiaonan Li
BACKGROUND AND OBJECTIVES: Perioperative nutritional support has become a hot topic in the clinical management of congenital heart disease (CHD). Postoperative enteral nutrition (EN) offers many benefits, such as protection of the intestinal mucosa, reduced risk of infection, and low clinical costs. Interruptions in EN frequently influence nutritional support and clinical outcomes. We, therefore, aimed to determine the causes of interruptions in postoperative EN in CHD patients and discuss clinical counter measures...
May 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28407399/abnormal-rab11-rab8-vesicles-cluster-in-enterocytes-of-patients-with-microvillus-inclusion-disease
#7
Georg F Vogel, Andreas R Janecke, Iris M Krainer, Karin Gutleben, Barbara Witting, Sally G Mitton, Sahar Mansour, Antje Ballauff, Joseph T Roland, Amy C Engevik, Ernest Cutz, Thomas Müller, James R Goldenring, Lukas A Huber, Michael W Hess
Microvillus inclusion disease (MVID) is a congenital enteropathy characterized by accumulation of vesiculo-tubular endomembranes in the subapical cytoplasm of enterocytes, historically termed "secretory granules." However, neither their identity nor pathophysiological significance is well defined. Using immunoelectron microscopy and tomography, we studied biopsies from MVID patients (3× Myosin 5b mutations and 1× Syntaxin3 mutation) and compared them to controls and genome-edited CaCo2 cell models, harboring relevant mutations...
April 13, 2017: Traffic
https://www.readbyqxmd.com/read/28373485/identification-and-characterization-of-a-novel-dgat1-missense-mutation-associated-with-congenital-diarrhea
#8
Nina L Gluchowski, Chandramohan Chitraju, Joseph A Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S Kamin, Harland S Winter, Wendy K Chung, Tobias C Walther, Robert V Farese
Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose-related diarrhea in human clinical trials. Here we identify a previously unknown DGAT1 mutation in identical twins of South Asian descent. These male patients developed watery diarrhea shortly after birth, with protein-losing enteropathy and failure to thrive...
June 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28361844/new-mutations-of-epcam-gene-for-tufting-enteropathy-in-saudi-arabia
#9
Shaden AlMahamed, Abdelhai Hammo
BACKGROUND/AIM: Tufting enteropathy (TE) is a rare cause of congenital intractable diarrhea in children. It often results in an irreversible intestinal failure and total parenteral nutrition (TPN) dependency; eventually, intestinal transplantation may be necessary. Data on TE from the Middle East are scarce; therefore, our aim of conducting this study was to clarify the clinical, histopathologic, and molecular features of TE in Saudi children. PATIENTS AND METHODS: This was a retrospective chart review of four children with TE who presented between January 2011 and December 2013 to King Fahad Specialist Hospital-Dammam (KFSH-D)...
March 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28328696/enterocolitis-in-a-child-with-hirschsprung-disease
#10
Alexander W D Guillaume, Andrew C Miller, Michael C Nguyen
Hirschsprung disease is a congenital abnormality that can be surgically corrected. However, Hirschsprung-associated enterocolitis can be a life-threatening sequela. Very little has been published in the emergency medicine literature about the risk of enterocolitis and shock in patients with a history of Hirschsprung disease. We describe the case of a 6-month-old male infant with a history of multiple surgeries for Hirschsprung disease who presented to the emergency department with a seemingly benign viral gastrointestinal illness...
March 21, 2017: Pediatric Emergency Care
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/28283348/congenital-glucose-galactose-malabsorption-a-case-report
#12
Sharon Anderson, Soula Koniaris, Baozhong Xin, Susan Sklower Brooks
Congenital glucose-galactose malabsorption (CGGM) is a rare cause of intractable infantile diarrhea, with only a few hundred cases recognized worldwide. This life-threatening disorder must be considered in the differential diagnosis of an infant who presents with diarrhea and dehydration that fails to respond to standard therapy. The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c...
March 7, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28250010/reply-to-reduced-nhe3-activity-results-in-congenital-diarrhea-and-can-predispose-to-inflammatory-bowel-disease
#13
Timo Rieg, Jessica A Dominguez Rieg
No abstract text is available yet for this article.
March 1, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28125689/selective-inhibition-of-prostasin-in-human-enterocytes-by-the-integral-membrane-kunitz-type-serine-protease-inhibitor-hai-2
#14
Frank Shiao, Li-Ching O Liu, Nanxi Huang, Ying-Jung J Lai, Robert J Barndt, Chun-Che Tseng, Jehng-Kang Wang, Bailing Jia, Michael D Johnson, Chen-Yong Lin
Mutations of hepatocyte growth factor activator inhibitor (HAI)-2 in humans cause sodium loss in the gastrointestinal (GI) tract in patients with syndromic congenital sodium diarrhea (SCSD). Aberrant regulation of HAI-2 target protease(s) was proposed as the cause of the disease. Here functional linkage of HAI-2 with two membrane-associated serine proteases, matriptase and prostasin was analyzed in Caco-2 cells and the human GI tract. Immunodepletion-immunoblot analysis showed that significant proportion of HAI-2 is in complex with activated prostasin but not matriptase...
2017: PloS One
https://www.readbyqxmd.com/read/28081328/cytomegalovirus-hepatitis-in-49-pediatric-patients-with-normal-immunity
#15
Hasan Tezer, Saliha Kanık Yüksek, Belgin Gülhan, Aslı Nur Özkaya Parlakay, Ceyda Tuna Kırsaçlıoğlu
BACKGROUND/AIM: Cytomegalovirus (CMV) hepatitis is generally asymptomatic or rarely can lead to severe complications in immunocompetent hosts. This study aims to evaluate CMV hepatitis in immunocompetent young children, which is discussed relatively rarely in the literature. MATERIALS AND METHODS: A retrospective review of 49 pediatric patients with CMV hepatitis from January 2005 to December 2010 was performed. RESULTS: The median age of the patients was 5...
December 20, 2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28044269/under-five-child-mortality-and-morbidity-associated-with-consanguineous-child-marriage-in-pakistan-retrospective-analysis-using-pakistan-demographic-and-health-surveys-1990-91-2006-07-2012-13
#16
Mudasir Mustafa, Rubeena Zakar, Muhammad Zakria Zakar, Ashraf Chaudhry, Muazzam Nasrullah
Objective To assess the combined effect of consanguineous and child marriages (CCM) on children health, which has not previously been explored, either globally or locally. Methods We analyzed secondary data from a series of cross-sectional, nationally representative Pakistan Demographic and Health Surveys 1990-91, 2006-07, and 2012-13. A total of 5406 mothers with 10,164 children were included in the analysis. Child health was assessed by variables such as history of diarrhea, acute respiratory infection (ARI), ARI with fever, Under-5 child mortality (U5CM) and small-size birth (SSB)...
January 2, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/27976454/zika-virus-future-reproductive-concerns
#17
Christopher M Novak, Jeanne S Sheffield, Irina Burd
The pandemic spread of Zika virus (ZIKV), a member of the flavivirus genus of the Flaviviridae family, has become a major public health concern. Reproductive specialists are particularly concerned over the spread of ZIKV as it is now known to have both sexual and transplacental routes of transmission resulting in fetal congenital abnormalities. Other members of the Flaviviridae family, hepatitis C virus (HCV) and bovine viral diarrhea virus (BVDV) (which primarily affects cattle), are well known to reproductive specialists as both sexually transmitted illnesses that are capable of vertical transmission...
February 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/27875355/novel-mutations-in-epcam-cause-congenital-tufting-enteropathy
#18
Wenjuan Tang, Taosheng Huang, Zhongyao Xu, Ying Huang
BACKGROUND AND AIMS: Congenital tufting enteropathy (CTE) is a rare autosomal recessive form of intractable diarrhea of infancy. Patients develop chronic diarrhea within days after birth, leading to severe malabsorption and significant mortality. CTE is characterized by subtotal villous atrophy with crypt hyperplasia. Typical features include abnormal villi in the intestinal epithelium and disorganization of surface enterocytes with focal crowding, resembling tufts. The pathogenesis of CTE remains poorly understood...
November 21, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27821252/current-knowledge-of-environmental-exposure-in-children-during-the-sensitive-developmental-periods
#19
Norma Helena Perlroth, Christina Wyss Castelo Branco
OBJECTIVE: This study aims to identify the scientific evidence on the risks and effects of exposure to environmental contaminants in children during sensitive developmental periods. DATA SOURCE: The search was performed in the Bireme database, using the terms: children's health, environmental exposure, health vulnerability, toxicity pathways and developmental disabilities in the LILACS, MEDLINE and SciELO systems. DATA SYNTHESIS: Children differ from adults in their unique physiological and behavioral characteristics and the potential exposure to risks caused by several threats in the environment...
January 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/27784486/-novel-slc26a3-mutation-in-an-infant-with-congenital-chloride-losing-diarrhea-initially-misdiagnosed-as-bartter-s-syndrome
#20
Y P Liu, Y X Chen, L R Qiu
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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