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Bladzijde 1 van 23 resultaten
Myotonia associated with cancer.
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Myotonia in patients treated for cancer with didemnin B.
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[Paraneoplastic neuromuscular manifestations--apropos of a case presenting successively a picture of myotonia, then myasthenia with myositis 4 years before the diagnosis of a colonic neoplasm].
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Hypothesis: neoplasms in myotonic dystrophy.
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Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high
[Anesthetic managements of a patient with congenital myotonia (Becker type)].
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A 55-year-old woman with congenital myotonia (Becker type), diagnosed by muscle biopsy and gene examination, underwent a right lower lobectomy assisted with thoracoscopy for lung cancer. After epidural tube replacement at T 9-10, general anesthesia was introduced with propofol 2.5 mg x kg(-1) and
Oxaliplatin-induced hyperexcitability syndrome in a patient with pancreatic cancer.
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A recent pooled analysis and a meta-analysis suggested a survival benefit of gemcitabine-platinum doublets when compared with single agent gemcitabine in pancreatic cancer. Sensory neurotoxicity is a potentially limiting toxicity associated with oxaliplatin therapy. In this letter, we describe a
Diabetes, Metformin, and Cancer Risk in Myotonic Dystrophy Type I.
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Myotonic dystrophy Type I (DM1) is an autosomal dominant multi-system disorder characterized by myotonia and muscle weakness. Type 2 diabetes (T2D) and cancer have been shown to be part of the DM1 phenotype. Metformin, a well-established agent for the management of T2D, is thought to have
Ganoderma sinense polysaccharide: An adjunctive drug used for cancer treatment.
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Ganoderma sinense is one of well-known herb medicine and has been used for 2000 years in China. G. lucidum and G. sinense are two family members of Ganoderma, a genus of polypore fungi. In Chinese, "Lingzhi" is designated as G. lucidum or red "Lingzhi" whereas "Zizhi"
Phase II clinical trial of didemnin B in previously treated small cell lung cancer.
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Didemnin B (NSC 325319), a cyclic depsipeptide isolated from a Carribean sea tunicate, exhibited potent antitumor activity in preclinical studies. After determining the maximum tolerated dose in our previous phase I/II trial, we conducted a phase II study of this drug in patients with previously
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias
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Objective: The aim of our study was to evaluate the long-term efficacy and safety of mexiletine in 112 patients affected by genetically confirmed non-dystrophic myotonias. The study was performed at the Neurophysiologic Division of Fondazione Policlinico Universitario A. Gemelli Istituto di
[Multiple basaliomas in Curschmann-Steinert myotonia atrophica].
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The occurrence of multiple basal-cell epitheliomas in connection with myotonic dystrophy has not previously been reported. The possibility of myotonic dystrophy being a predisposing factor for different kinds of neoplasms is discussed.
[Multiple pigmented basalioma of the scalp in a patient with Curschmann-Steinert myotonia dystrophica. Confirmation of a rare symptom constellation].
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A 50-year-old woman presented with myotonic dystrophy (Curschmann-Steinert disease) and multiple pigmented basal cell carcinomas of the scalp. She also had typical androgenetic alopecia seen in this disorder. In 1986 Stieler and Plewig described the first patient with myotonic dystrophy and multiple
The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene.
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Schwartz-Jampel syndrome (SJS) is an autosomal recessive human disorder characterized by myotonia and osteoarticular deformities. Three types are distinguished based on age at onset: types 1A, 1B and 2. We have previously localized the SJS1 gene, responsible for types 1A and 1B, on human chromosome
Basal cell carcinomas in a young woman with Steinert's disease.
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Steinert's disease or Myotonic dystrophy type I (DM1) is an autosomal dominant disease characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and electrocardiographic alterations.Several tumors have been associated with DM1 such as pilomatricoma, thymomas and
[A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults].
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Type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (CTG) repeat in the exon 15 in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Mutant transcripts containing an expanded CUG repeat are retained in
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