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BioASQ | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke, cognitive decline, psychiatric disturbances and migraine. The prevalence of migraine in CADASIL is slightly higher than in t... | {
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BioASQ | Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene in non-small cell lung cancers are associated with increased sensitivity of these cancers to drugs that inhibit EGFR kinase activity such as gefitinib and erlotinib. Responses to TK inhibitors in the absence of EGFR gene mu... | {
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BioASQ | Parkinson's disease (PD) and related Lewy body diseases are characterized by deposition of α-synuclein aggregates in both the central nervous system and peripheral nervous system. Synucleinopathy lesions spread to larger brain areas as the disease progresses, and prion-like cell-to-cell transmission of aggregated α-syn... | {
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BioASQ | The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization ... | {
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BioASQ | Probe-to-bone test and simple X-rays are both standard tests for the diagnosis of diabetic foot osteomyelitis. This study demonstrates the importance of considering jointly clinical information (probe-to-bone test) and diagnostic tests (simple radiography) to increase agreement among clinicians on diagnosis of diabetic... | {
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BioASQ | A 65-year-old white man presented with all the clinical features of acrokeratosis paraneoplastica of Bazex, characterized by violaceous erythema and scaling of the nose, aural helices, fingers, and toes, with keratoderma and severe nail dystrophy. Examination of the patient for possible associated malignancy disclosed ... | {
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BioASQ | A 70 year old woman presented with a 6 year history of medically refractory severe tardive dystonia. After informed consent, a bilateral stereotactic electrode placement targeting the ventral intermediate thalamic nucleus (VIM) and the globus pallidus internus (GPi) was performed. After bilateral stimulation of the GPi... | {
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BioASQ | Compression of the median nerve at the wrist, or carpal tunnel syndrome, is the most commonly recognized nerve entrapment syndrome. Carpal tunnel syndrome is usually caused by compression of the median nerve due to synovial swelling, tumor, or anomalous anatomical structure within the carpal tunnel. During a routine ca... | {
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BioASQ | During mitosis, Promyelocytic leukemia nuclear bodies (PML NBs) change dramatically in morphology and composition, but little is known about function of PML in mitosis. Here, we show that PML is phosphorylated at T409 (PML p409) in a mitosis-specific manner. More importantly, PML p409 contributes to maintain the durati... | {
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