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Congenital diarrhea

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https://www.readbyqxmd.com/read/29205622/radiographic-features-of-congenital-segmental-dilation-of-the-intestine-in-a-german-shepherd-dog
#1
Laura Johnson, Kristina Simone, John Cullen, Ashley Talley, Eli B Cohen
A 10-week-old spayed female German Shepherd Dog was presented for acute vomiting and diarrhea. There was no reported foreign body or toxin ingestion. Radiographs showed a severely (∼11 × 7 cm), focally distended right abdominal intestinal segment containing gas and soft tissue material. Other small intestinal segments were segmentally gas distended. Celiotomy identified a ∼9 cm focally dilated segment at the jejunoileal junction with no aborad luminal obstruction. Resection and anastomosis of the dilation was performed...
December 4, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/29181956/infectious-diseases-in-poland-in-2015
#2
Małgorzata Sadkowska-Todys, Andrzej Zieliński, Mirosław P. Czarkowski
PURPOSE OF THE STUDY: This is the next annual analysis of the situation of infectious and parasitic diseases in Poland in 2015 within the framework of the Epidemiological Chronicle of Przegląd Epidemiologiczny - Epidemiological Review. Its purpose is to identify potential threats to the health of populations from infectious diseases occurring in Poland with reference to other parts of the globe. MATERIAL AND METHODS: This paper is an introduction to more detailed studies of the epidemiological situation of selected infectious diseases and summarizes the results of the surveillance of infectious diseases in Poland in 2015...
2017: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/29174590/double-outlet-right-ventricle-with-subpulmonary-ventricular-septal-defect-taussig-bing-anomaly-and-other-complex-congenital-cardiac-malformations-in-an-american-quarter-horse-foal
#3
Rebecca Kohnken, Karsten Schober, Jennifer Godman, Alison Gardner, Tiffany Jenkins, Eric Schroeder, Peter Baker, Laura Dunbar
A 4-week-old American Quarter Horse colt presented with a recent history of diarrhea and decreased activity level. On initial physical examination, the animal was bright and alert and major findings were limited to a loud systolic heart murmur radiating widely over both sides of the thorax. While in the hospital, the clinical condition of the foal warranted further imaging to determine the cause and extent of cardiac disease. A variety of congenital cardiac malformations were identified during echocardiographic examination and autopsy, including a double outlet right ventricle and a subpulmonary interventricular septal defect (Taussig-Bing anomaly), ventricular inversion with atrioventricular discordance, tricuspid valve atresia, a septum primum interatrial septal defect, mitral valve dysplasia with a cleft in the septal mitral valve cusp, aortic, and subaortic stenosis, tubular hypoplasia of the ascending aorta and the aortic arch, a patent ductus arteriosus, an aberrant circumflex coronary artery, and aberrant left and right subclavian arteries...
November 21, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29168373/kocuria-kristinae-caused-sepsis-in-an-infant-with-congenital-tufting-enteropathy
#4
Malik Aydin, Rainer Ganschow, Martin Jankofsky
Aydin M, Ganschow R, Jankofsky M. Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy. Turk J Pediatr 2017; 59: 93-96. Congenital tufting enteropathy (CTE) is characterized by the early-onset of chronic diarrhea and the inability to develop. It is a rare congenital disease with a low prevalence of 1:50,000 - 100,000 live births p.a. The histopathology is characterized by villous atrophy and the characteristic epithelial tufts. Recent identification of causative mutations in EpCAM has enhanced our understanding of this disease...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#5
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29096340/non-traumatic-perforation-of-common-hepatic-duct-case-report-and-review-of-literature-hp
#6
Abdelaziz Atwez, Matthew Augustine, James M Nottingham
INTRODUCTION: Non-traumatic biliary perforation other than the gallbladder is extremely rare and most commonly seen in children in association with congenital biliary anomalies. We present a rare case of choledocholithiasis that progressed to spontaneous perforation of the common hepatic duct probably from ischemic necrosis caused by impaction of large biliary stones. CASEREPORT: A 62-year-old female presented with diarrhea and jaundice. She was found to have two 2...
October 18, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29079751/a-missense-mutation-in-slc26a3-is-associated-with-human-male-subfertility-and-impaired-activation-of-cftr
#7
Satu Wedenoja, Ahlam Khamaysi, Liana Shimshilashvili, Shireen Anbtawe-Jomaa, Outi Elomaa, Jorma Toppari, Pia Höglund, Kristiina Aittomäki, Christer Holmberg, Outi Hovatta, Juha S Tapanainen, Ehud Ohana, Juha Kere
Chloride absorption and bicarbonate excretion through exchange by the solute carrier family 26 member 3 (SLC26A3) and cystic fibrosis transmembrane conductance regulator (CFTR) are crucial for many tissues including sperm and epithelia of the male reproductive tract. Homozygous SLC26A3 mutations cause congenital chloride diarrhea with male subfertility, while homozygous CFTR mutations cause cystic fibrosis with male infertility. Some homozygous or heterozygous CFTR mutations only manifest as male infertility...
October 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29079318/transitions-in-care-from-pediatric-to-adult-general-surgery-evaluating-an-unmet-need-for-patients-with-anorectal-malformation-and-hirschsprung-disease
#8
Sarah B Cairo, Priscilla P L Chiu, Roshni Dasgupta, Karen A Diefenbach, Allan M Goldstein, Nicholas A Hamilton, Andrea Lo, Michael D Rollins, David H Rothstein
BACKGROUND: The provision of timely and comprehensive transition of care from pediatric to adult surgical providers for patients who have undergone childhood operations remains a challenge. Understanding the barriers to transition from a patient and family perspective may improve this process. METHODS: A cross-sectional survey was conducted of patients with a history of anorectal malformation (ARM) or Hirschsprung Disease (HD) and their families. The web-based survey was administered through two support groups dedicated to the needs of individuals born with these congenital abnormalities...
October 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29072377/-congenital-ileal-stenosis-late-clinical-manifestations-of-early-prenatal-suspicion
#9
Avi On, Mary Abdo, Sammi Haddad, Wail Naser, Said Abozaid
Congenital stenosis (partial obstruction) of the small intestine is uncommon in comparison to atresia (complete obstruction). The clinical manifestations of stenosis could be delayed up to several weeks post-delivery. We present a case wherein a baby with a prenatal ultrasound examination showed a suspicious picture of small bowel obstruction. However, the clinical manifestations after delivery and imaging studies were misleading and non-classic; therefore, the resection of the stenotic portion of the ileum was delayed until the baby was one month of age...
October 2017: Harefuah
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
#10
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
#11
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
#12
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
#13
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
#14
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...
December 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28940958/a-novel-neurog3-mutation-in-neonatal-diabetes-associated-with-a-neuro-intestinal-syndrome
#15
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
#16
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
#17
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...
November 2017: Early Human Development
https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#18
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
#19
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
#20
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.
December 2017: Indian Journal of Pediatrics
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