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https://read.qxmd.com/read/30874249/the-role-of-familial-mediterranean-fever-gene-mutation-in-treatment-of-infantile-colitis-with-resistant-perianal-fistula
#1
Maşallah Baran, Yeliz Çağan Appak, Pınar Garipcin, Yavuz Demirçelik, Emel Ebru Pala, Berk Özyilmaz, Miray Karakoyun, Orkan Ergün
Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD. In this article, we describe a case of I-IBD with a resistant fistula, in which remission occurred following colchicine therapy. The patient was a six-month-girl with complaints of bloody diarrhea and a perianal abscess of three months duration. Laboratory tests revealed elevated inflammatory parameters, hypoalbuminemia, and anemia...
December 2018: Archives of rheumatology
https://read.qxmd.com/read/30788983/refractory-infantile-chronic-diarrhea-and-failure-to-thrive-in-a-6-month-old-boy-with-a-complex-past-medical-history
#2
Debra Okafor, Leina AlRabadi, Arik Alper, Lauren Jeffries, James McGrath, Anthony F Porto
No abstract text is available yet for this article.
February 21, 2019: Clinical Pediatrics
https://read.qxmd.com/read/30771478/whole-exome-sequencing-revealed-mutations-in-fbxl4-unc80-and-adk-in-thai-patients-with-severe-intellectual-disabilities
#3
Chulaluck Kuptanon, Chalurmpon Srichomthong, Chupong Ittiwut, Thanin Wechapinan, Somjit Sri-Udomkajorn, Orawan Iamopas, Chureerat Phokaew, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Patient 1 had ID, hypotonia and lactic acidosis. Patient 2 had ID and growth failure. Patient 3 had ID, seizure, diarrhea and hypoglycemia. Whole exome sequencing found that Patient 1 was homozygous for a nonsense, c.1303C>T (p.Arg435Ter), mutation in FBXL4, a gene responsible for encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13)...
February 14, 2019: Gene
https://read.qxmd.com/read/30741263/assays-for-the-specific-growth-rate-and-cell-binding-ability-of-rotavirus
#4
Syun-Suke Kadoya, Daisuke Sano
Rotavirus is the main etiological factor for infantile diarrhea. It is a double-stranded (ds) RNA virus and forms a genetically diverse population, known as quasispecies, owing to their high mutation rate. Here, we describe how to measure the specific growth rate and the cell-binding ability of rotavirus as its phenotypes. Rotavirus is treated with trypsin to recognize the cell receptor and then inoculated into MA104 cell culture. The supernatant, including viral progenies, is collected intermittently. The plaque assay is used to confirm the virus titer (plaque-forming unit: pfu) of each collected supernatant...
January 28, 2019: Journal of Visualized Experiments: JoVE
https://read.qxmd.com/read/30634918/infantile-onset-inflammatory-bowel-disease-in-a-patient-with-hermansky-pudlak-syndrome-a-case-report
#5
Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-Ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood...
January 11, 2019: BMC Gastroenterology
https://read.qxmd.com/read/30548242/clinical-practice-of-chinese-medicine-navel-therapy-for-chronic-diarrhea-a-literature-review
#6
REVIEW
Meng-Rui Chen, Jiang Zhao, Shu-Fei Fu, Jia-Qi Yu, Xuan Zhang, Qi-Yang Zhang, Zhi-Huan Zhou
Chronic diarrhea is one of the most common complaints in clinical practice for both adults and children. The purpose of this study was to assess the commonly used Chinese herbal medicine navel therapy for the treatment of chronic diarrhea (traditional Chinese medicine syndrome of spleen deficiency). The literature search was up to June 2018. Four types of studies (clinical trials, case series, case reports, and experts' experience) researched on Chinese medicine navel therapy used alone or combined with other therapies for the treatment of chronic diarrhea all included...
November 22, 2018: Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/30465784/ra-839-a-selective-agonist-of-nrf2-are-pathway-exerts-potent-anti-rotaviral-efficacy-in-vitro
#7
Upayan Patra, Urbi Mukhopadhyay, Rakesh Sarkar, Arpita Mukherjee, Mamta Chawla-Sarkar
Acute watery diarrhea due to Rotavirus (RV) infection is associated with high infantile morbidity and mortality in countries with compromised socio-economic backgrounds. Although showing promising trends in developed countries, the efficacy of currently licensed RV vaccines is sub-optimal in socio-economically poor settings with high disease burden. Currently, there are no approved anti-rotaviral drugs adjunct to classical vaccination program. Interestingly, dissecting host-rotavirus interaction has yielded novel, non-mutable host determinants which can be subjected to interventions by selective small molecules...
November 19, 2018: Antiviral Research
https://read.qxmd.com/read/30445423/spint2-hai-2-missense-variants-identified-in-congenital-sodium-diarrhea-tufting-enteropathy-affect-the-ability-of-hai-2-to-inhibit-prostasin-but-not-matriptase
#8
Lasse Holt-Danborg, Julia Vodopiutz, Annika W Nonboe, Jan De Laffolie, Signe Skovbjerg, Victorien M Wolters, Thomas Müller, Benjamin Hetzer, Alexander Querfurt, Klaus-Peter Zimmer, Jan K Jensen, Andreas Entenmann, Peter Heinz-Erian, Lotte K Vogel, Andreas R Janecke
The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi-allelic mutations in SPINT2, which encodes a Kunitz type serine protease inhibitor (HAI-2). We report three novel SCSD patients, two novel SPINT2 mutations, and review published cases. The most common findings in SCSD patients were choanal atresia (20/34), and keratitis of infantile onset (26/34). Characteristic epithelial tufts on intestinal histology were reported in 13/34 patients. Of 13 different SPINT2 variants identified in SCSD, four are missense variants and localize to the second Kunitz domain (KD2) of HAI-2...
November 15, 2018: Human Molecular Genetics
https://read.qxmd.com/read/30419040/safety-of-azithromycin-in-infants-under-six-months-of-age-in-niger-a-community-randomized-trial
#9
Catherine E Oldenburg, Ahmed M Arzika, Ramatou Maliki, Mohamed Salissou Kane, Elodie Lebas, Kathryn J Ray, Catherine Cook, Sun Y Cotter, Zhaoxia Zhou, Sheila K West, Robin Bailey, Travis C Porco, Jeremy D Keenan, Thomas M Lietman
BACKGROUND: Mass azithromycin distribution reduces under-5 child mortality. Trachoma control programs currently treat infants aged 6 months and older. Here, we report findings from an infant adverse event survey in 1-5 month olds who received azithromycin as part of a large community-randomized trial in Niger. METHODS AND PRINCIPAL FINDINGS: Active surveillance of infants aged 1-5 months at the time of treatment was conducted in 30 randomly selected communities from within a large cluster randomized trial of biannual mass azithromycin distribution compared to placebo to assess the potential impact on child mortality...
November 2018: PLoS Neglected Tropical Diseases
https://read.qxmd.com/read/30333172/the-c-terminus-of-rotavirus-vp4-protein-contains-an-actin-binding-domain-which-requires-co-operation-with-the-coiled-coil-domain-for-actin-remodeling
#10
Wilfried Condemine, Thibaut Eguether, Nathalie Couroussé, Catherine Etchebest, Agnes Gardet, Germain Trugnan, Serge Chwetzoff
The interactions between viruses and actin cytoskeleton have been widely studied. We showed that rotaviruses remodel microfilaments in intestinal cells and demonstrated that this was due to the VP4 spike protein. Microfilaments mainly occur in the apical domain of infected polarized enterocytes and favor the polarized apical exit of viral progeny. The present work aims at the identification of molecular determinants of actin-VP4 interactions. We used various deletion mutants of VP4 that were transfected into Cos-7 cells and analyzed interactions by immunofluorescence confocal microscopy...
October 17, 2018: Journal of Virology
https://read.qxmd.com/read/30271001/head-drop-and-flaccid-weakness-in-infantile-nephrotic-syndrome
#11
G S Dhooria
Dropped head syndrome (DHS) is a relatively rare condition, with a broad differential diagnosis. We report here a case of infantile nephrotic syndrome with DHS caused by severe hypokalemia. Electrocardiogram showed flat T- and U-waves. Multiple factors including recurrent diarrhea, prolonged diuretic and corticosteroid use, hypomagnesemia, poor intake, and malnutrition caused hypokalemia in the case. Head drop and flaccid weakness resolved completely after potassium and magnesium supplementation. Potassium levels should be monitored and corrected promptly in these settings...
September 2018: Indian Journal of Nephrology
https://read.qxmd.com/read/30249378/ultrasonographic-study-of-intestinal-doppler-blood-flow-in-infantile-non-ige-mediated-gastrointestinal-food-allergy
#12
Keisuke Jimbo, Yoshikazu Ohtsuka, Tatsuo Kono, Nobuyasu Arai, Reiko Kyoudo, Kenji Hosoi, Yo Aoyagi, Takahiro Kudo, Nobuyoshi Asai, Toshiaki Shimizu
BACKGROUND: Although non-IgE-mediated gastrointestinal food allergy has increased rapidly in Japan, a small number of reports has evaluated B-mode and Doppler ultrasonographic findings in the acute phase of infantile gastrointestinal milk allergy. The aim of the present study was to compare the diagnostic utility of ultrasonographic findings and laboratory allergic data in non-IgE-mediated infantile gastrointestinal milk allergy. METHODS: Sixteen cases of active non-IgE-mediated infantile gastrointestinal milk allergy, diagnosed by food elimination tests and oral food challenge tests (OFCTs) (group A), 15 cases of acute viral gastroenteritis (AGE) (group B), and 15 controls (group C) were enrolled...
September 22, 2018: Allergology International: Official Journal of the Japanese Society of Allergology
https://read.qxmd.com/read/30217790/origanum-majorana-l-extract-exhibit-positive-cooperative-effects-on-the-main-mechanisms-involved-in-acute-infectious-diarrhea
#13
Hanane Makrane, Mohammed Aziz, Hassane Mekhfi, Abderrahim Ziyyat, Abdelkhaleq Legssyer, Ahmed Melhaoui, Mohamed Berrabah, Mohamed Bnouham, Chakib Alem, Ferdinand Kouoh Elombo, Bernard Gressier, Jehan-François Desjeux, Bruno Eto
ETHNOPHARMACOLOGICAL RELEVANCE: Origanum majorana L. (Lamiaceae) is commonly used in Moroccan folk medicine to treat infantile colic, abdominal discomfort and diarrhea. Liquid stools and abdominal discomfort observed in acute infectious diarrhea are the consequences of imbalance between intestinal water secretion and absorption in the lumen, and relaxation of smooth muscle surrounding the intestinal mucosa. AIM OF THE STUDY: The objective of our study was to see if aqueous extract of Origanum majorana L...
September 11, 2018: Journal of Ethnopharmacology
https://read.qxmd.com/read/30196642/-etiological-study-of-diarrhea-in-children-under-5-years-old-in-dongcheng-district-of-beijing
#14
L J Wang, Y Zhou, L Qi, J R Liang, H Sun, B L Xu, J Wang, X Wang, H Q Jing
Objective: To analyze the etiological characteristics of infectious diarrhea among people under 5 years old in Dongcheng District, Beijing. Methods: The age, time of infection, clinical symptoms and laboratory test results of the cases who didn't used antibiotics within 3 days in the second maternal and child health care hospital were collected from 2012 to 2015, through the information management system of infectious disease monitoring technology platform. To compare the detection rate of virus and bacteria in children with different sex, time and age,and the difference of clinical characteristics between virus detection group and bacteria detection group by chi square test...
September 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://read.qxmd.com/read/30176098/hyaline-fibromatosis-syndrome-clinical-update-and-phenotype-genotype-correlations
#15
REVIEW
Dídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, Laia Alsina, Esperanza Castejón, Sergi Navarro-Vilarrubí, Belén Pérez-Dueñas, Mercedes Serrano, Francesc Palau, Alfredo García-Alix
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the connective tissue caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). It is characterized by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. We reviewed the 84 published cases and their molecular findings, aiming to gain insight into the clinical features, prognostic factors, and phenotype-genotype correlations...
December 2018: Human Mutation
https://read.qxmd.com/read/30052610/individualized-treatment-for-infantile-hemangioma
#16
Meng-Nan Xu, Min Zhang, Yuan Xu, Min Wang, Si-Ming Yuan
Infantile hemangioma can grow dramatically or typically locate on the face, which may lead to functional impairment, cosmetically disfiguring and exhibiting complications such as ulceration, bleeding, or infection. Early intervention is necessary. In this study, the authors chose individual treatment for different patients. From January 2012 to December 2016, 185 patients with hemangioma were enrolled into this study. Lesion area ranged from 0.5 cm × 0.5 cm to 9 cm × 12 cm. The initial treatment age ranged from 1 to 7 months with an average age of 3...
October 2018: Journal of Craniofacial Surgery
https://read.qxmd.com/read/30050362/protein-losing-enteropathy-and-joint-contractures-caused-by-a-novel-homozygous-antxr2-mutation
#17
Edith Schussler, Rita V Linkner, Jacob Levitt, Lakshmi Mehta, John A Martignetti, Kimihiko Oishi
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rarity and high fatality rate, timely diagnosis is difficult and ISH may be underdiagnosed...
2018: Advances in Genomics and Genetics
https://read.qxmd.com/read/29804008/chronic-sequelae-and-severe-complications-of-norovirus-infection-a-systematic-review-of-literature
#18
REVIEW
Mariska Petrignani, Linda Verhoef, Miranda de Graaf, Jan Hendrik Richardus, Marion Koopmans
Norovirus causes an estimated 18% of all cases of acute gastroenteritis worldwide and is found to be associated with mortality. To create a first overview of severe complications and chronic sequelae of norovirus infections, a systematic review of literature was performed. Of 3928 individual hits, 176 publications remained for data extraction. Study periods varied between 1974 and 2017, though strongly skewed towards the last decade (n = 122, 70%). Countries of studies were worldwide, though Africa, and Carribean, Central and South America were underrepresented...
August 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://read.qxmd.com/read/29607365/frequency-distribution-of-porcine-rotavirus-a-and-capsid-protein-gene-based-sequence-and-phylogenetic-analysis-indicating-marked-heterogeneity-among-prevailing-strains-india
#19
Jobin Jose Kattoor, Sharad Saurabh, Shubhankar Sircar, Obli Rajendran Vinodhkumar, Ujjwal Kumar De, Kuldeep Dhama, Souvik Ghosh, Raj Kumar Singh, Yashpal Singh Malik
Rotavirus (RV), is an etiological agent of acute infantile diarrhea in both humans and animals including poultry. Among the eight accepted species/types of RVs, RV-A is genetically and antigenically the most diverse. RV-A associated enteritis is a major problem in the weaning and post-weaning piglets. Due to high genetic variability in the antigenic regions, RV-A is thought to have high interspecies jumping probability. In this study, comparatively a large sized sample (n = 757) was screened, where the samples were collected from diarrheic porcine population of north (Uttar Pradesh), North eastern (Assam, Nagaland, Meghalaya, Tripura, Manipur, Mizoram and Arunachal Pradesh) and Southern states of India (Kerala, Karnataka and Tamil Nadu)...
March 2018: Virusdisease
https://read.qxmd.com/read/29560583/treatment-with-chenodeoxycholic-acid-in-cerebrotendinous-xanthomatosis-clinical-neurophysiological-and-quantitative-brain-structural-outcomes
#20
Maria Del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. METHODS AND RESULTS: We collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years...
September 2018: Journal of Inherited Metabolic Disease
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