Results 121 to 130 of about 38,795 (226)
Annals of Indian Academy of Neurology, 2012 Somsri Wiwanitkit, Viroj Wiwanitkit
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Clinical Case Reports, Volume 14, Issue 7, July 2026.Gas gangrene of the right upper limb following a Naja atra bite, with extensive skin necrosis and purulent discharge. ABSTRACT Gas gangrene after a Naja atra bite may be caused by Enterococcus faecalis from the snake's mouth, which is resistant to ceftriaxone.
Xuan Ci +5 more
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Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Graves' disease may rarely present with predominant neuropsychiatric symptoms, such as severe, treatment‐resistant panic attacks, leading to misdiagnosis as a primary psychiatric disorder. We describe a 30‐year‐old woman with refractory panic attacks and night terrors who was initially treated with anxiolytics and antidepressants.
Mahsa Satari Gholami
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CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.Following intracerebral hemorrhage, sympathetic overactivation drives acute lung injury via norepinephrine‐induced VPS35 upregulation. VPS35 promotes PIEZO2‐mediated calcium influx and impairs ATP2A2‐dependent ER calcium reuptake, triggering ER stress and NLRP3‐pyroptosis.
Shuai Han +9 more
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Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
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Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
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Journal of Neurology, Neurosurgery & Psychiatry, 2001 A, Petzold, G T, Plant
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Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
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Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova +10 more
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Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer +5 more
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