Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
Assessing male involvement in childcare and associated factors among fathers of below two in Toke Kutaye district, Central Ethiopia, 2024: a community-based cross-sectional study. [PDF]
Front Public HealthGanfure G, Darega J, Kitila LD.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven +14 more
wiley +1 more source
The extent to which child- and parent-report Revised Children's Anxiety and Depression Scale, short Mood and Feeling Questionnaire, Strength and Difficulty Questionnaire and child-report KIDSCREEN identify the same young people as at risk of mental health conditions. [PDF]
Br J PsychiatryNazeer N +7 more
europepmc +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Difficulties in providing nursing care to children with neurodevelopmental disorders admitted to child and adolescent psychiatric units for aggressive behavior. [PDF]
Jpn J Nurs SciKato Y, Kawahara T, Endo Y, Yamazaki A.
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher +5 more
wiley +1 more source
Families' Strategies for Navigating Care for Their Child With Cerebral Palsy: A Qualitative Study. [PDF]
Health ExpectAskeland S +3 more
europepmc +1 more source