Results 81 to 90 of about 20,251 (253)
Acta Paediatrica, EarlyView.ABSTRACT Aim Nicotine exposure during pregnancy interferes with critical periods of foetal brain development, disrupting the timing and functioning of neurodevelopment. This systematic review and meta‐analysis aims to evaluate the effect of prenatal nicotine exposure on postnatal cognitive outcomes.
Deimantė Baguckaitė +2 more
wiley +1 more source
TWO CASES OF NON-ALCOHOLIC WERNICKE ENCEPHALOPATHY SUCCESSFULLY TREATED BY THIAMINE REPLACEMENT: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS [PDF]
, 2010 Wernicke\u2019s encephalopathy (WE) is an acute neurologi- cal disorder, due to a lack of thiamin (vitamin B1) which is observed mainly in alcoholic patients.
Brighina, F. +7 more
core
Management of labyrinthine fistula in chronic otitis with cholesteatoma: case series. [PDF]
, 2015 Labyrinthine fistula is a complication of ear cholesteatoma that increase the risk of sensorineural hearing loss. The management of the fistula must be done contextually with mastoidectomy by: leaving cholesteatoma matrix over the fistula, or remove the ...
Bennici, E. +4 more
core +1 more source
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, EarlyView.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +10 more
wiley +1 more source
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Developmental Medicine &Child Neurology, EarlyView.Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome
Pediatric Dermatology, EarlyView.ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet +4 more
wiley +1 more source
Experimental Physiology, EarlyView.Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu +5 more
wiley +1 more source
More on reports of esophageal cancer with oral bisphosphonate use [PDF]
, 2009 Udgivelsesdato: 2009-Apr ...
Abrahamsen, Bo +2 more
core +1 more source
Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma
Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano +7 more
wiley +1 more source