Results 91 to 100 of about 338,913 (237)

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Anxiety disorder and anxiolytic pharmacotherapy during pregnancy: The impact on pregnancy outcomes

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study determines the contributions of anxiety disorder and anxiolytic pharmacotherapy on perinatal outcomes and examines prescribing trends during pregnancy. Methods A retrospective cohort study was conducted at a single tertiary medical center between 2013 and 2024.
Sher Goaz Melet, Chagit Kliger, Daniel Gabbai, Danna Englender, Yariv Yogev, Omri Dominsky   +5 more
wiley   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

New approaches to preventing, diagnosing, and treating neonatal sepsis. [PDF]

, 2010
Karen Edmond and Anita Zaidi highlight new approaches that could reduce the burden of neonatal sepsis ...
Karen Edmond, Zaidi Anita, Anita Zaidi, Zaidi, Anita K. M., Zaidi, Anita, Edmond, Karen, Edmond Karen   +6 more
core   +2 more sources

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

Human Genome Variation
Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties,
Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman   +12 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Sudden Unexpected Postnatal Collapse: A Retrospective Cohort Study Describing Incidence, Risk Factors and Role of Perinatal Transition

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study aimed to investigate the incidence, risk factors and possible aetiology of sudden unexpected postnatal collapse (SUPC), a potentially fatal yet poorly understood event. Methods In a retrospective cohort, patient records from 483 284 infants born in Stockholm, Sweden, between 2002 and 2022 were screened for SUPC‐related diagnoses.
David Forsberg, Louise Steinhoff, Gustaf Drevin, Helena Idborg, Nicolas J. Pejovic, Eric Herlenius   +5 more
wiley   +1 more source

Hipotonía severa en el período neonatal. Diagnóstico genético

, 2012
Introducción: La hipotonía es el trastorno motor más frecuente en el período neonatal. Constituye un problema de arduo diagnóstico con respecto a su etiología. Actualmente el conocimiento de la medicina molecular y genética hace posible el diagnóstico de
Márquez Fernández, J., Aguilera Llovet, M.A., Millán Jiménez, Antonio, Acosta Gordillo, L., Miranda Díaz, M.   +4 more
core