コシェル・ドゥブレ・セメレーニュ症候群
English Journal
- Assessment of manual dysfunction in occupationally active women with carpal tunnel syndrome.
- Wolny T, Linek P, Saulicz E.
- International journal of occupational medicine and environmental health. 2019 Apr;32(2)185-196.
- The aim of this study is to evaluate 2-point discrimination sense (2PD), strength and kinesthetic differentiation of strength (KDS), range of motion (ROM) and kinesthetic differentiation of movement (KDM) dysfunctions in occupationally active women with mild and moderate forms of carpal tunnel syndr
- PMID 30860206
- The ketogenic diet is not feasible as a therapy in a CD-1 nu/nu mouse model of renal cell carcinoma with features of Stauffer's syndrome.
- Vidali S, Aminzadeh-Gohari S, Feichtinger RG, Vatrinet R, Koller A, Locker F, Rutherford T, O'Donnell M, Stöger-Kleiber A, Lambert B, Felder TK, Sperl W, Kofler B.
- Oncotarget. 2017 Aug;8(34)57201-57215.
- The ketogenic diet (KD), a high-fat low-carbohydrate diet, has shown some efficacy in the treatment of certain types of tumors such as brain tumors and neuroblastoma. These tumors are characterized by the Warburg effect. Because renal cell carcinoma (RCC) presents similar energetic features as neuro
- PMID 28915665
- Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.
- Joseph MR, Theroux MC, Mooney JJ, Falitz S, Brandom BW, Byler DL.
- A & A case reports. 2017 Feb;8(3)55-57.
- We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup
- PMID 27918309
Related Links
- King-Denborough syndrome (KDS), was first described in the year 1973. KDS is a rare condition characterized by a triad of dysmorphic features, malignant hyperthermia susceptibility (MHS), and myopathy. Autosomal ...
- KDS syndrome symptoms, causes, diagnosis, and treatment information for KDS syndrome (Kocher-Debre-Semelaigne syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention ...
- Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative.
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- 英
- Kocher Debre Semelaigne syndrome, Kocher-Debre-Semelaigne syndrome, KDS syndrome
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- ホフマン症候群
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