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Congenital diarrhea

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https://www.readbyqxmd.com/read/28984754/late-presentation-of-necrotizing-enterocolitis-associated-with-rotavirus-infection-in-a-term-infant-with-hyperinsulinism-on-octreotide-therapy-a-case-report
#1
Abdulaziz A Alsaedi, Ayman A Bakkar, Naglaa M Kamal, Jwaher M Althobiti
RATIONALE: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy that can cause permanent brain damage. Consequently, optimal management is extremely important. Current pharmacologic and surgical treatment were available that included diazoxide and octreotides. PATIENT CONCERNS: A 4 month old Saudi male patient diagnosed at our hospital as CHI, treated with near total pancreatectomy and octreotide therapy of 30 mcg/kg/day presented with severe abdominal distension, vomiting and bloody diarrhea...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28977299/saccharomyces-cerevisiae-fungemia-in-a-pediatric-patient-after-treatment-with-probiotics
#2
Mariá Ribas Romanio, Ligia Augusto Coraine, Vinicius Pignoti Maielo, Marcelo Luiz Abramczyc, Renato Lopes de Souza, Nilton Ferraro Oliveira
OBJECTIVE: To report the case of a one-year-old patient with a bloodstream infection associated with probiotics, and to discuss the indications and precautions concerning the therapeutic use of probiotics. CASE DESCRIPTION: A one-year-old male patient with Down syndrome in a late postoperative period of congenital cardiac disease correction. The patient was severely malnourished and had been hospitalized since he was two months old in the Pediatric Intensive Care Unit...
July 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28960390/prenatal-bowel-findings-in-male-siblings-with-a-confirmed-foxp3-mutation
#3
Catherine Griswold, Allison R Durica, Larry G Dennis, Ann F Jewell
There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders...
September 29, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28944135/management-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-a-review-of-the-literature
#4
REVIEW
Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37, 14 of SKIV2L...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28941661/molecular-analysis-of-human-solute-carrier-slc26-anion-transporter-disease-causing-mutations-using-3-dimensional-homology-modeling
#5
Chloe Rapp, Xiaoyun Bai, Reinhart A F Reithmeier
The availability of the first crystal structure of a bacterial member (SLC26Dg) of the solute carrier SLC26 family of anion transporters has allowed us to create 3-dimensional models of all 10 human members (SLC26A1-A11, A10 being a pseudogene) of these membrane proteins using the Phyre2 bioinformatic tool. The homology modeling predicted that the SLC26 human proteins, like the SLC26Dg template, all consist of 14 transmembrane segments (TM) arranged in a 7+7 inverted topology with the amino-termini of two half-helices (TM3 and 10) facing each other in the centre of the protein to create the anion-binding site, linked to a C-terminal cytosolic sulfate transporter anti-sigma factor antagonist (STAS) domain...
September 21, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28940958/a-novel-neurog3-mutation-in-neonatal-diabetes-associated-with-a-neuro-intestinal-syndrome
#6
Suna Hancili, Amélie Bonnefond, Julien Philippe, Emmanuel Vaillant, Franck De Graeve, Olivier Sand, Kanetee Busiah, Jean-Jacques Robert, Michel Polak, Philippe Froguel, Ayla Güven, Martine Vaxillaire
Neonatal diabetes mellitus (NDM) is a rare form of non-autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity. Among transcriptional factor genes associated with isolated or syndromic NDM, a few cases of homozygous mutations in the NEUROG3 gene have been reported, all mutated patients presenting with congenital malabsorptive diarrhea with or without diabetes at a variable age of onset from early life to childhood...
September 22, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28937539/congenital-diarrhea-from-dgat1-mutation-leading-to-electrolyte-derangements-protein-losing-enteropathy-and-rickets
#7
Thomas L Ratchford, Amelia J Kirby, Hailey Pinz, Dhiren R Patel
No abstract text is available yet for this article.
September 20, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28927754/motility-disorders-in-infants
#8
I J N Koppen, M A Benninga, M M J Singendonk
Gastrointestinal motility disorders are common in the pediatric population and may affect the entire gastrointestinal tract and can vary from mild to severe conditions. They may clinically manifest as gastro-esophageal reflux symptoms, feeding difficulties and failure to thrive, constipation and diarrhea amongst others. This review first highlights the embryologic development of the gastrointestinal tract, after which the prenatal and neonatal development of gastrointestinal motility is discussed. Normal motility patterns as seen in (preterm) infants are described as a background for the discussion of the most common congenital and acquired motility disorders in infancy...
September 16, 2017: Early Human Development
https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#9
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28898457/organic-solute-transporter-beta-slc51b-deficiency-in-two-brothers-with-congenital-diarrhea-and-features-of-cholestasis
#10
Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M Vaz, Bassam Y Abu Libdeh, Saul J Karpen, Paul A Dawson
Primary bile acid malabsorption (PBAM) is associated with congenital diarrhea, steatorrhea, and a block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal Na(+) -dependent bile acid transporter (ASBT; SLC10A2) can cause PBAM, but do not appear to account for most familial cases. Another major transporter involved in the intestinal reclamation of bile acids is the heteromeric Organic Solute Transporter alpha-beta (OSTα-OSTβ; SLC51A-SLC51B), which exports bile acid across the basolateral membrane...
September 12, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28842815/congenital-fatal-diarrhea-in-newborns
#11
Swapna Lingaldinna, Mangala Bharathi Sundaram, C N Kamalarathnam, Sumathi Bavanandam
Microvillus inclusion disease is a rare autosomal recessive disorder of intestinal epithelium causing intractable secretary diarrhea in the first two months of life and about 140 cases have been reported worldwide till now. Here authors report 2 cases of Microvillus inclusion disease (MVID) diagnosed in neonates by electron microscopy study of small intestinal biopsy.
August 26, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28753187/slc5a1-mutations-in-saudi-arabian-patients-with-congenital-glucose-galactose-malabsorption
#12
Yasir Al-Suyufi, Khalid Al-Saleem, Ali Al-Mehaidib, Mohammed Banemai, Wajeeh M Aldekhail, Abdulhakim Al-Muhandes, Manal Mohammed, Rabab Allam, Amani Jambi, Khushnooda Ramzan, Faiqa Imtiaz
Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose co-transporter 1 (SGLT1) which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop normally. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM...
July 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28748117/epidemiology-pathophysiology-and-management-of-uric-acid-urolithiasis-a-narrative-review
#13
REVIEW
A Abou-Elela
An in-depth comprehension of the epidemiology as well as pathophysiology of uric acid urolithiasis is important for the identification, treatment, and prophylaxis of calculi in these patients. Persistently low urinary pH, hyperuricosuria, and low urinary volume are the most important factors in pathogenesis of uric acid urolithiasis. Other various causes of calculus formation comprises of chronic diarrhea, renal hyperuricosuria, insulin resistance, primary gout, extra purine in the diet, neoplastic syndromes, and congenital hyperuricemia...
September 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28724572/a-new-case-of-congenital-malabsorptive-diarrhea-and-diabetes-secondary-to-mutant-neurogenin-3
#14
Marta Germán-Díaz, Yolanda Rodriguez-Gil, Jaime Cruz-Rojo, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Javier Manzanares-López Manzanares, José Manuel Moreno-Villares
Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the Neurogenin-3 (NEUROG3) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with NEUROG3 mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old...
July 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28707991/a-case-study-of-intractable-diarrhea-due-to-neonatal-microvillous-inclusion-disease
#15
Ozgul Bulut, Bulent Ahishali, Mine Gulluoglu, Sertac Arslanoglu
BACKGROUND: Microvillous inclusion disease (MVID) is one of the most severe congenital diarrhea disorders, caused by a genetic defect in enterocyte differentiation and polarization. CASE REPORT: We describe a neonate who presented with severe weight loss, hypernatremic dehydration and metabolic acidosis due to intractable diarrhea due to MVID, confirmed by electron microscopy. CONCLUSION: MVID can present with severe weight loss, hypernatremic dehydration and metabolic acidosis that is life threatening...
August 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28701297/genomic-analysis-of-an-infant-with-intractable-diarrhea-and-dilated-cardiomyopathy
#16
Dale L Bodian, Thierry Vilboux, Suchitra K Hourigan, Callie L Jenevein, Haresh Mani, Kathleen C Kent, Alina Khromykh, Benjamin D Solomon, Natalie S Hauser
We describe a case of an infant presenting with intractable diarrhea who subsequently developed dilated cardiomyopathy, for whom a diagnosis was not initially achieved despite extensive clinical testing, including panel-based genetic testing. Research-based whole genome sequences of the proband and both parents were analyzed by the SAVANNA pipeline, a variant prioritization strategy integrating features of variants, genes, and phenotypes, which was implemented using publicly available tools. Although the intestinal morphological abnormalities characteristic of congenital tufting enteropathy (CTE) were not observed in the initial clinical gastrointestinal tract biopsies of the proband, an intronic variant, EPCAM c...
July 12, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#17
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
#18
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
#19
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
#20
RANDOMIZED CONTROLLED TRIAL
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
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