Results 1 to 10 of about 11,665 (133)

A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One-Year Follow-Up on Lipid Profile and Growth Development. [PDF]

Clin Case Rep
ABSTRACT Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease caused by a biallelic loss‐of‐function mutation in the lipoprotein lipase (LPL) gene or its cofactors. This case report describes the diagnosis, management, and one‐year follow‐up of an infant with FCS.
Liu J, Meng X, Wu Y, Huang G, Liang S.
europepmc   +2 more sources

Phenotypic Clues in Infantile-Onset Parkinsonism-Dystonia-2: A Treatable Neurotransmitter Disorder. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Yoganathan S, AlFaris HS, Vogt L, Eid M, Menetrey A, Chowdhury SR, Codeiro D, Krishnan P, Aljouda L, Tam EWY, Gorodetsky C.   +10 more
europepmc   +2 more sources

Maternal conceptions of infantile diarrhea [PDF]

Jornal de Pediatria, 2001
OBJECTIVE: To understand maternal conceptions of infantile diarrhea, encouraging reflection on the importance of communication between mothers and health services. METHODS: Survey carried out in selected areas of six towns in the state of Pernambuco, all of which participated in the diarrhea control project coordinated by the State Health Secretariat ...
K V, Feliciano, M H, Kovacs
openaire   +2 more sources

THE ETIOLOGY OF INFANTILE DIARRHEA. [PDF]

JAMA: The Journal of the American Medical Association, 1895
In order to arrive at any just conception of the subject, attention must be directed to the entire alimentary canal, as well as to milk, the staple food of infancy and childhood. A straight almost indifferentiated tube swarms from mouth to arms, with facultative, obligate, saprophytic and pathogenic germs.
openaire   +2 more sources

ACUTE INFANTILE DIARRHEA. [PDF]

Journal of the American Medical Association, 1899
ABSTRACT While, in a general way, the plan of treatment herein mapped out will apply to any form of diarrhea, it is intended more especially for the auto-infectious forms, such as are due to a process of fermentation, which may lead to putrefaction and decomposition of the contents of the alimentary tract; the auto-infection resulting from the ...
openaire   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Changes in effectiveness and safety in patients with Lennox–Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open‐label extension study

Epilepsia Open, EarlyView.
This graphical abstract provides an overview of the content from this post hoc analysis describing the trajectories of fenfluramine effectiveness and safety, along with dose changes over time, in patients with Lennox‐Gastaut syndrome. Abstract In the phase 3 randomized controlled trial (RCT; NCT03355209) of fenfluramine in Lennox–Gastaut syndrome (LGS),
Rima Nabbout, Orrin Devinsky, Lieven Lagae, Ingrid E. Scheffer, Renzo Guerrini, Joseph Sullivan, Antonio Gil‐Nagel, Sameer M. Zuberi, Kate Riney, Patrick Healy, Jayne Abraham, Rebecca Zhang Roper, Mélanie Langlois, Amélie Lothe, Kelly G. Knupp   +14 more
wiley   +1 more source

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Epilepsia Open, EarlyView.
This graphical abstract provides an overview of the content from this post hoc analysis evaluating the efficacy and safety of fenfluramine in patients with Dravet syndrome stratified by age, number of previously attempted antiseizure medications, and SCN1A pathogenic variant status using data pooled from the three pivotal randomized controlled trials ...
Rima Nabbout, Joseph Sullivan, Stéphane Auvin, J. Helen Cross, Orrin Devinsky, Antonio Gil‐Nagel, Renzo Guerrini, Kelly G. Knupp, M. Scott Perry, Rocío Sánchez‐Carpintero, An‐Sofie Schoonjans, Ingrid E. Scheffer, Nicola Specchio, Adam Strzelczyk, James Wheless, Elaine C. Wirrell, Diego Morita, Patrick Healy, Mélanie Langlois, Amélie Lothe, Lieven Lagae   +20 more
wiley   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source