Results 71 to 80 of about 7,466 (201)
A Difficult‐to‐Manage Case of Primary Idiopathic Erythromelalgia—Case Report
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Erythromelalgia is a rare condition with symptoms of erythema, warmth, and painful extremities exacerbated by warmth and relieved by cooling. Pain management is often challenging. The sodium channel blocker, lacosamide, was most effective in this patient.
Sarah Wide +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis.
Meghana Krishna Kesineni +6 more
wiley +1 more source
Pulmonary Circulation, Volume 16, Issue 2, June 2026.ABSTRACT Pulmonary arterial hypertension (PAH) is characterized by excessive pulmonary vasoconstriction and vascular remodelling, with mutations in bone morphogenetic protein receptor type 2 (BMPR2) being the most common genetic alteration associated with the disease.
Quezia K. Toe +3 more
wiley +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
What is the appropriate evaluation and treatment of children who are "toe walkers"? [PDF]
, 2006 The evaluation of toe-walking focuses on differentiating normal children from those with mild cerebral palsy. Gait analysis may be a useful diagnostic tool, but further investigation is needed to confirm its reliability (strength of recommendation [SOR]:
Eiff, M. Patrice +2 more
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Pulse Steroid Therapy in a Patient With Refractory Rhabdomyolysis of Unknown Etiology: A Case Report
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Rhabdomyolysis is conventionally treated with aggressive fluid resuscitation and elimination of the inciting factor, whereas corticosteroids are typically limited to cases of immune‐mediated myopathy. We describe an 18‐year‐old female who developed profound bilateral lower‐limb swelling, bullae formation, and motor weakness following a viral ...
Mustafa Majid +10 more
wiley +1 more source
Adherence to serial casting protocols for idiopathic toe walking: A quality improvement initiative
Journal of Pediatric Rehabilitation Medicine, 2022 PURPOSE: This initiative aimed to assess adherence to Scottish Rite for Children’s serial casting protocol for children with idiopathic toe walking (ITW), factors related to adherence, and outcomes after education regarding the protocol.
Karina A. Zapata +4 more
doaj +1 more source
Genetic Factors Associated with Toe Walking in Children
Вопросы современной педиатрии, 2020 The article describes genetic factors associated with toe walking in children. Association of gait abnormality with variants in genes listed below is shown: PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis ...
David Pomarino +4 more
doaj +1 more source
Managing Dystonia in Partington Syndrome
Movement Disorders Clinical Practice, Volume 13, Issue 2, Page 533-540, February 2026.Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon +13 more
wiley +1 more source