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Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFCase report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
View Article and Find Full Text PDFGlobal Delphi consensus on treatment goals for generalised pustular psoriasis.
Br J Dermatol
January 2025
Department of Dermatology, Yale University, New Haven, CT, USA.
Background: Generalised pustular psoriasis (GPP) is a chronic, systemic, neutrophilic inflammatory disease. A previous Delphi panel established areas of consensus on GPP, although patient perspectives were not included, and aspects of treatment goals remain unclear.
Objectives: To identify and achieve consensus on refined, specific treatment goals for GPP treatment via a Delphi panel with patient participation.
Clinical novel exploration of intractable fever in stroke rehabilitation: a single-center cross-sectional retrospective study.
Sci Rep
January 2025
Postgraduate School, Tianjin University of Traditional Chinese Medicine, Tianjin, 301617, China.
Fever has long been recognized as one of the earliest clinical indicators of illness and remains a leading reason for seeking medical care worldwide. It is typically classified based on its duration and underlying etiology. In clinical settings, intractable fever is as common as acute fever, particularly in patients with brain injuries.
View Article and Find Full Text PDFClinical features of recurrent MOG antibody-associated cortical encephalitis in adults.
Neurol Sci
January 2025
The People's Hospital of Xinchang, Shaoxing, 312500, Zhejiang, China.
Objective: To clarify the clinical features of recurrent myelin oligodendrocyte glycoprotein antibody-associated cortical encephalitis (MOGCE) in adults.
Methods: We present an adult case of recurrent MOGCE and summarize the clinical symptoms, imaging findings, treatment and prognosis of this phenotype as per a systematic review of the literature.
Results: We identified 9 adult patients with recurrent MOGCE.
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