Results 61 to 70 of about 19,319 (231)

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Congenital Lobar Emphysema in an Infant Presenting With Persistent Cough and Progressive Respiratory Symptoms: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Congenital lobar emphysema should be considered in infants with persistent respiratory symptoms unresponsive to standard therapy. Chest CT is the definitive diagnostic tool, reliably distinguishing CLE from other causes of unilateral hyperlucency.
Fares Abboud, Aya Alhaj Muhammad, Sawssan Ali, Abdeljalil El Hilali, Mohamed Achraf Amar, Lujin Jouria   +5 more
wiley   +1 more source

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose–galactose transporter SLC5A1

Frontiers in Pediatrics
IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea.
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña   +8 more
doaj   +1 more source

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

Epilepsia, Volume 67, Issue 5, Page 2463-2479, May 2026.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer, M. Scott Perry, Joseph Sullivan, Susana Boronat, James Wheless, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer M. Zuberi, Rebecca Shaffer, Mary Wojnaroski, Madison M. Berl, Sarah Christensen, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +26 more
wiley   +1 more source

Prevalence of HEp-2 cell-adherent Escherichia coli and characterisation of enteroaggregative E-coli and chain-like adherent E-coli isolated from children with and without diarrhoea, in Londrina, Brazil [PDF]

, 2000
A total of 919 Escherichia coli isolates from 125 children with diarrhoea (cases) and 98 controls were assayed for adherence to HEp-2 cells. Localised adherence was found only in isolates from cases.
Elias Junior, Waldir Pereira, Gioppo, Nereida MR, Gomes, Tania Aparecida Tardelli, Linhares, Rosa E., Pelayo, Jacinta S., Saridakis, Halha O., Trabulsi, Luiz R., Vidotto, Marilda C.   +7 more
core   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Diarréia por parasitas Parasites induced diarrheas

Revista Brasileira de Saúde Materno Infantil, 2002
A diarréia é uma causa importante de morbimortalidade nos países em desenvolvimento. Os agentes etiológicos mais comuns são os vírus e as bactérias. Este artigo tem o objetivo de analisar a ocorrência de diarréia como manifestação clínica de parasitose ...
Maria Eugênia Farias Almeida Motta, Gisélia Alves Pontes da Silva   +1 more
doaj   +1 more source

Water and Basic Sanitation in Latin America and the Caribbean [PDF]

human development, water ...
Juan Emilio Hernández Mazariegos
core  

A second large plasmid encodes conjugative transfer and antimicrobial resistance in O119:H2 and some typical O111 enteropathogenic \u3ci\u3eEscherichia coli\u3c/i\u3e strains [PDF]

, 2007
A novel and functional conjugative transfer system identified in O119:H2 enteropathogenic Escherichia coli (EPEC) strain MB80 by subtractive hybridization is encoded on a large multidrug resistance plasmid, distinct from the well-described EPEC adherence
Mucci, Tania, Nwaneshiudu, Adaobi I., Okeke, Iruka N., Pickard, Derek J.   +3 more
core   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source