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Congenital diarrhea

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https://www.readbyqxmd.com/read/28081328/cytomegalovirus-hepatitis-in-49-pediatric-patients-with-normal-immunity
#1
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
#2
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
#3
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...
December 15, 2016: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/27875355/novel-mutations-in-epcam-cause-congenital-tufting-enteropathy
#4
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
#5
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...
November 4, 2016: 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
#6
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
https://www.readbyqxmd.com/read/27779831/infectious-diseases-in-poland-in-2014
#7
Małgorzata Sadkowska-Todys, Andrzej Zieliński, Mirosław P Czarkowski
PURPOSE of the STUDY: The aim of the study is to assess epidemiological situation of infectious and parasitic diseases in Poland in 2014, and an indication of the potential health risks from communicable diseases occurring in other areas of the globe. MATERIAL AND METHODS: This paper is a summary of the analysis and evaluation of the results of epidemiological surveillance of infectious diseases in Poland in 2014, and those elements of European and global epidemiological background, which in this period had an impact on the epidemiological situation in Poland or constituted a threat...
2016: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/27749612/congenital-sucrase-isomaltase-deficiency-a-novel-compound-heterozygous-mutation-causing-aberrant-protein-localization
#8
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
https://www.readbyqxmd.com/read/27699073/early-diagnosis-and-hematopoietic-stem-cell-transplantation-for-il10r-deficiency-leading-to-very-early-onset-inflammatory-bowel-disease-are-essential-in-familial-cases
#9
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
https://www.readbyqxmd.com/read/27657883/twelve-novel-mutations-in-the-slc26a3-gene-in-17-sporadic-cases-of-congenital-chloride-diarrhea
#10
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
https://www.readbyqxmd.com/read/27635272/congenital-chloride-diarrhea-diagnosis-by-easy-accessible-chloride-measurement-in-feces
#11
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
https://www.readbyqxmd.com/read/27533310/hypogonadotropic-hypogonadism-and-short-stature-in-patients-with-diabetes-due-to-neurogenin-3-deficiency
#12
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
https://www.readbyqxmd.com/read/27525615/slc26a3-gene-mutations-in-tunisian-patients-with-congenital-chloride-diarrhea
#13
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
https://www.readbyqxmd.com/read/27477384/microvillus-inclusion-disease-a-subtotal-enterectomy-as-a-bridge-to-transplantation
#14
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...
December 2016: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/27429470/congenital-nutritional-myodegeneration-in-a-neonatal-foal
#15
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
https://www.readbyqxmd.com/read/27351021/experience-with-clinically-diagnosed-down-syndrome-children-admitted-with-diarrhea-in-an-urban-hospital-in-bangladesh
#16
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
https://www.readbyqxmd.com/read/27336005/experience-with-nosocomial-infection-in-children-under-5-treated-in-an-urban-diarrheal-treatment-center-in-bangladesh
#17
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
https://www.readbyqxmd.com/read/27259054/mutations-in-tkt-are-the-cause-of-a-syndrome-including-short-stature-developmental-delay-and-congenital-heart-defects
#18
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
https://www.readbyqxmd.com/read/27210056/pain-syndrome-and-ventricular-arrhythmia-induced-by-sirolimus-and-resolved-by-dosage-adjustment-in-a-child-after-heart-transplant-a-case-report
#19
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
https://www.readbyqxmd.com/read/27175718/acute-abdominal-pain-in-children
#20
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
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