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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFDemyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Ann Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
Presenting Symptoms Define Time to Diagnosis in Degenerative Cervical Myelopathy: Process Mapping From a Musculoskeletal Triage Unit in the UK.
Musculoskeletal Care
March 2025
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Study Design: Retrospective cohort study.
Objective: Tackling delayed diagnosis in degenerative cervical myelopathy (DCM) is a global research priority. On average, it takes 2-5 years, leading to worse outcomes from surgery and greater disability.
Surgical correction of cavus foot may promote quality of life in patients with Charcot-Marie-Tooth disease: A retrospective study.
J Foot Ankle Surg
January 2025
Department of Sports medicine, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, China. Electronic address:
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy leading to neuromuscular impairments, muscle atrophy, and functional limitations. Currently, no specific treatment exists to restore muscle strength in patients with CMT, and the disease can be severely disabling. Surgical correction of cavus foot has been suggested as a potential intervention to alleviate pain and improve gait in selected patients.
View Article and Find Full Text PDFThe effectiveness of balneotherapy on pain, walking, and function in patients with diabetic neuropathy: a prospective observational study.
Int J Biometeorol
January 2025
5th Department of Internal Medicine, "Iuliu Haţieganu" University of Medicine and Pharmacy Cluj-Napoca,Romania, Victor Babeş Str., No. 43, 400012, Cluj-Napoca, Romania.
The treatment of type 2 diabetes patients with diabetic neuropathy using pharmacological and non-pharmacological measures remains a current topic. The aim of this study is to evaluate the effect of comprehensive medical rehabilitation programs that include natural therapeutic factors (carbonated natural mineral water) on pain, gait, and functional status in these patients. Fifty patients diagnosed with type 2 diabetes and diabetic neuropathy in the lower limbs participated in the study.
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