Results 31 to 40 of about 6,879 (174)

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Oculomotor nerve palsy associated with bortezomib in a patient with multiple myeloma: a case report

Journal of Medical Case Reports, 2010
Introduction Bortezomib is a proteasome inhibitor used in the treatment of multiple myeloma. A newly recognized oculomotor nerve palsy related to bortezomib is described.
Helmy Tarek, El-Sweilmeen Hamdan, Toema Bassem   +2 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Pituitary Apoplexy Causing Compression of Third Cranial Nerve—Management

Indian Journal of Neurosurgery, 2019
Lesions of the oculomotor nerve as the first sign of pituitary adenoma are rare. The cause of such lesions without other clinical symptoms is discussed in this study.
Václav Masopust
doaj   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Pupil Unleashed: Unraveling the Enigma of an Unusual Traumatic Head Injury: A Case Report

Clinical Practice and Cases in Emergency Medicine
Introduction: Isolated oculomotor nerve palsy after mild traumatic brain injury is unusual and prognostically significant due to unclear mechanisms and recovery challenges. We present a case of isolated oculomotor nerve palsy following minor head trauma,
Akash Daswaney, Shuchi Abhishek, Sanjan Asanaru Kunju, Priya Pattath Sankaran, Ahlam Abdul Rahman   +4 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

A Case of Extra-axial Cavernous Angioma Originating from the Oculomotor Nerve

Indian Journal of Neurosurgery, 2016
We report a case of extra-axial cavernous angioma, which originated from the oculomotor nerve and, by hemorrhaging, resulted in oculomotor nerve palsy. Cavernous angioma generally occurs in the brain parenchyma. Therefore, this case is extremely rare. We
Toshitaka Inui, Hiroyuki Hashimoto, Kenta Fujimoto, Tateo Shimokawara, Mitsuhisa Nishiguchi, Syohei Yokoyama, Koji Omoto, Ryuta Matsuoka, Takahide Yaegaki   +8 more
doaj   +1 more source

A Systematic Review of Acupuncture for Oculomotor Nerve Palsy [PDF]

Journal of Acupuncture Research, 2019
Acupuncture treatment for oculomotor nerve palsy has been increasing recently. This study analyzed randomized controlled trials (RCTs) and case reports, using the Cochrane risk of bias tool to investigate the efficacy of acupuncture therapy for ...
Yong Ho Ku, Jae Hui Kang, Hae Jin Kong, Hwa Yeon Ryu, Hyun Lee   +4 more
doaj   +1 more source