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Congenital diarrhea

Yael Haberman, Ayelet Di Segni, Nurit Loberman-Nachum, Ortal Barel, Vered Kunik, Eran Eyal, Nitzan Kol, Goni Hout-Siloni, Brigitte Kochavi, Camila Avivi, Michael Schvimer, Gideon Rechavi, Yair Anikster, Iris Barshack, Batia Weiss
OBJECTIVES: Congenital chronic diarrhea (CCD) is a group of inherited enteropathies presenting in early life and requiring parenteral nutrition. In most cases, genetics may be the key for precise diagnosis. We present an infant girl with CCD that resolved after introduction of fructose-based formula but had no identified mutation in the SLC5A1 gene. Using whole exome sequencing (WES) we identified other mutations that better dictated dietary adjustments. METHODS: WES of the patient and her parents was performed...
October 4, 2016: Journal of Pediatric Gastroenterology and Nutrition
Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies...
2016: Case Reports in Immunology
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 to emphasize the importance of functional studies to define the effect of novel mutations. METHODS: all SLC26A3 coding regions were sequenced in 17 sporadic CCD patients. Moreover, the minigene system was used to analyse the effect of two novel splicing mutations. RESULTS: we defined the SLC26A3 genotype of all 17 CDD patients and we identified twelve novel mutations...
September 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
C Gils, M-C Eckhardt, P E Nielsen, M Nybo
Background. Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl(-)/HCO3 (-) exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. The CCD diagnosis is based on the clinical symptoms and measurement of high chloride concentration in feces (>90 mmol/L) and is confirmed by DNA testing. Untreated CCD is lethal, while long-term clinical outcome improves when treated correctly...
2016: Case Reports in Pediatrics
Oscar Rubio-Cabezas, José Luis Gómez, Andrea Gleisner, Andrew T Hattersley, Ethel Codner
CONTEXT: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. CASE DESCRIPTION: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes...
October 2016: Journal of Clinical Endocrinology and Metabolism
Ons Azzabi, Ilhem Fetni, Ines Selmi, Sonia Halioui, Mongi Ben Hariz, Castaldo Giuseppe, Nadia Siala, Ahmed Maherzi
No abstract text is available yet for this article.
January 2016: La Tunisie Médicale
Karen van Hoeve, Ilse Hoffman, Fabio Fusaro, Jacques Pirenne, Ann Vander Auwera, Anne-Marie Dieltjens, Gert De Hertogh, Diethard Monbaliu, Marc Miserez
BACKGROUND: Microvillus inclusion disease (MVID) is a known congenital cause of intractable diarrhea resulting in permanent intestinal failure. There is need for a lifelong total parenteral nutrition (TPN) from diagnosis and the prognosis is poor. Most patients die by the second decade of life as a result of complications of parenteral alimentation including liver failure or sepsis. The only available treatment at this moment is a small bowel transplantation. But before that moment, the patients often suffer from a persistent failure to thrive and electrolyte disturbances despite continuous TPN...
August 1, 2016: Acta Chirurgica Belgica
Jessie MacQuarrie
A 2-day-old Quarter Horse colt was presented to the Atlantic Veterinary College for recumbency and diarrhea. Dietary history of the dam, serum biochemistry findings, and whole blood selenium levels were consistent with nutritional myodegeneration. The patient was treated successfully with fluid therapy and broad-spectrum antimicrobials. Recovery was uneventful, and the patient was discharged with a favorable prognosis.
July 2016: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
Rina Das, Anupam Sarker, Haimanti Saha, Abu Sadat Mohammad Sayeem Bin Shahid, K M Shahunja, Mohammod Jobayer Chisti
There is lack of information in the medical literature on clinically diagnosed Down syndrome children presenting with diarrhea. Our aim was to describe our experience with Down syndrome patients admitted with diarrhea by evaluating the factors associated with Down syndrome presenting with diarrheal illness. In this retrospective chart analysis, we enrolled all the diarrheal children aged 0-59 months admitted to the Dhaka Hospital of the International Centre for Diarrheal Disease Research, Bangladesh (icddr, b), from March 2011 to February 2013...
2015: International Scholarly Research Notices
K M Shahunja, Tahmeed Ahmed, Abu Syeed Golam Faruque, Abu Sadat Mohammad Sayeem Bin Shahid, Sumon Kumar Das, Lubaba Shahrin, Md Iqbal Hossain, Md Munirul Islam, Mohammod Jobayer Chisti
We aimed to evaluate the factors associated with nosocomial infections (NIs) in under-5 children and in bacterial isolates from their blood, urine, and stool. We reviewed all under-5 hospitalized children with clinically diagnosed NIs in the inpatient ward at Dhaka Hospital of International Centre for Diarrhoeal Disease Research, Bangladesh, between January and December 2012. Comparison was made among the children with (cases = 71) and without NI (controls = 142). NI was defined as the development of new infection 48 hours after admission...
2016: Global Pediatric Health
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna Saitta, Kyle Retterer, Megan T Cho, Amber Begtrup, Kristin G Monaghan, Julia Wynn, Wendy K Chung
Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years...
June 2, 2016: American Journal of Human Genetics
Nazmi Mutlu Karakas, Ilkay Erdogan, Beril Ozdemir, Atilla Sezgin
For patients with late congenital heart diseases and advanced heart failure, heart transplant is the one of the most effective known treatment methods. With the development of immunosuppressive medicines, it is possible to prevent and treat rejection, and survival after organ transplant has increased rapidly. Calcineurin inhibitors (tacrolimus and cyclosporine), mycophenolate mofetil, and corticosteroids are used together in many centers as immunosuppressive medications. Although the use of calcineurin inhibitors is essential, therapy is switched to sirolimus in some specific cases and when significant adverse effects occur...
May 17, 2016: Experimental and Clinical Transplantation
Carin E Reust, Amy Williams
Acute abdominal pain accounts for approximately 9% of childhood primary care office visits. Symptoms and signs that increase the likelihood of a surgical cause for pain include fever, bilious vomiting, bloody diarrhea, absent bowel sounds, voluntary guarding, rigidity, and rebound tenderness. The age of the child can help focus the differential diagnosis. In infants and toddlers, clinicians should consider congenital anomalies and other causes, including malrotation, hernias, Meckel diverticulum, or intussusception...
May 15, 2016: American Family Physician
Viktor Szatmári, Paulien Bunskoek, Thijs Kuiken, Annemarie van den Berg, Cornelis van Elk
A live-stranded harbor porpoise Phocoena phocoena was found on the west coast of the Dutch island Texel (North Sea) and transported to a rehabilitation center for small cetaceans, where it underwent a veterinary health check. Cardiac auscultation revealed a systolic cardiac murmur with the point of maximal intensity in the right hemithorax with an intensity of IV out of VI. Transthoracic echocardiography revealed a congenital ventricular septal defect with left-to-right shunting. Because the left atrium was not dilated according to the reference range of canine left atrium to aortic ratio, the presence of congestive heart failure was considered very unlikely...
March 30, 2016: Diseases of Aquatic Organisms
Julie Teil, Damien Dupont, Bruno Charpiat, Stéphane Corvaisier, Thierry Vial, Gilles Leboucher, Martine Wallon, François Peyron
BACKGROUND: The treatment of newborns and infants with congenital toxoplasmosis is standard practice. Some observational studies have examined safety in newborns, but most of these failed to provide sufficient details for a provisional assessment of causality. The aim of this study was to evaluate the clinical and biological adverse effects of the combination of sulfadoxine-pyrimethamine. METHODS: Sixty-five children treated for 1 year with a combination of sulfadoxine-pyrimethamine (1 dose every 10 days) for congenital toxoplasmosis were followed up to evaluate abnormal hematological values and potential adverse events using a standardized method of causality assessment...
June 2016: Pediatric Infectious Disease Journal
Changhong Ren, Fang Fang, Yu Huang, Hua Cheng, Lifang Dai
OBJECTIVE: To analyze the clinical and PMM2 gene mutation features of congenital disturbance of glycosylation caused by PMM2 gene mutation (PMM2-CDG, previously known as CDG 1a). METHOD: The clinical data of two Chinese patients who were clinically diagnosed as PMM2-CDG at neurology department of Beijing Children's Hospital in 2012 were retrospectively collected. The gene mutations were identified by Sanger sequencing. RESULT: Both patients were female, aged 1 year and 1 month and 8 months respectively...
December 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri-Chen, Ben Pode-Shakked, Sina Mazaheri, Dina Marek-Yagel, Ortal Barel, Ayelet Di Segni, Eran Eyal, Goni Hout-Siloni, Avishay Lahad, Tzippora Shalem, Gideon Rechavi, May Christine V Malicdan, Batia Weiss, William A Gahl, Yair Anikster
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in a single family. We hypothesize that mutations in this gene are responsible for undiagnosed cases of PLE in infancy. Here we investigated three children in two families presenting with severe diarrhea, hypoalbuminemia and PLE, using clinical studies, homozygosity mapping, and exome sequencing...
August 2016: European Journal of Human Genetics: EJHG
Paul K Sue, Nicole M Salazar-Austin, Oliver G McDonald, Arvind Rishi, Toby C Cornish, Ravit Arav-Boger
Cytomegalovirus (CMV) causes significant morbidity and mortality in congenitally infected children and immunocompromised hosts. Among healthy individuals, CMV is generally thought to cause mild, self-limited illness. CMV enterocolitis, in particular, is rarely considered among immunocompetent children presenting with diarrhea. We describe 2 cases of invasive CMV colitis in immunocompetent infants presenting with diarrhea and review the literature to date on this topic. Although invasive CMV enterocolitis has been sporadically reported among immunocompetent children, it remains an underrecognized cause of infectious diarrhea in this population and indications for antiviral therapy are lacking...
May 2016: Pediatric Infectious Disease Journal
Andreas R Janecke, Peter Heinz-Erian, Thomas Müller
Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because of the severity of the presentation and the broad range of possible differential diagnoses. CDDs arise from alterations in the transport of nutrients and electrolytes across the intestinal mucosa, from enterocyte and enteroendocrine cell differentiation and/or polarization defects, and from the modulation of the intestinal immune response. Advances were made recently in deciphering the etiology and pathophysiology of one of these disorders, congenital sodium diarrhea (CSD)...
August 2016: Journal of Pediatric Gastroenterology and Nutrition
Birthe Gericke, Mahdi Amiri, Hassan Y Naim
Osmotic diarrhea and abdominal pain in humans are oftentimes associated with carbohydrate malabsorption in the small intestine due to loss of function of microvillar disaccharidases. Disaccharidases are crucial for the digestion and the subsequent absorption of carbohydrates. This review focuses on sucrase-isomaltase as the most abundant intestinal disaccharidase and the primary or induced pathological conditions that affect its physiological function. Congenital defects are primary factors which directly influence the transport and function of sucrase-isomaltase in a healthy epithelium...
December 2016: Molecular and Cellular Pediatrics
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