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[Clinical analysis of 15 cases with myeloperoxidase antineutrophil cytoplasmic antibody associated hypertrophic pachymeningitis].
To study the clinical features of myeloperoxidase(MPO) antineutrophil cytoplasmic antibody (ANCA) associated hypertrophic pachymeningitis (HP). Clinical data of 15 cases diagnosed with MPO-ANCA vasculitis complicated with HP were retrospectively analyzed. Nine cases were males and the other 6 were females, with an average age of (58±8) years. All cases presented with chronic headache. Contrast-enh…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case.
SPG7 mutations are typically associated with autosomal recessive hereditary spastic paraplegia (HSP). However, evidence suggests that the p.A510V variant may also be pathogenic in heterozygous form, often manifesting as late-onset cerebellar ataxia with variable clinical features. We report the case of a 72-year-old woman presenting with progressive gait instability and cerebellar signs. The diagn…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Posterior reversible encephalopathy syndrome in the setting of IgA vasculitis.
IgA vasculitis (IgAV), formerly known as Henoch-Scholein purpura, is a small vessel vasculitis, most commonly seen in pediatric patients, that can affect numerous internal organs including the kidneys, lungs, gastrointestinal tract, and the central nervous system (CNS). CNS manifestations of this condition include hypertensive encephalopathy, thrombosis, optic neuropathy, seizures, CNS vasculitis,…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.
We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_3…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Editorial: Women in brain health and clinical neuroscience.
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Editorial Comment: Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
• Conventional and advanced MR techniques may aid in the diagnosis of motor neuron disease.• Iron-sensitive MR imaging of the primary motor cortex may reveal changes to help differentiate hereditary spastic paraplegia (HSP) from UMM predominant amyotrophic lateral sclerosis (UMN-ALS) and primary lateral sclerosis (PLS).• Additional research in this area is necessary.
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
The c.1529C >T change in the SPG7 gene, encoding the mutant p.Ala510Val paraplegin protein, was first described as a polymorphism in 1998. This was based on its frequency of 3 % and 4 % in two separate surveys of controls in the United Kingdom (UK) population. Subsequently, it has been found to co-segregate with disease in a number of different populations. Yeast expression studies support its hav…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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[Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP). All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to electromyography (EMG) examinations. The proband was subjected to thoracic MRI examination too. Mutation analysis of spastin gene was…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Sensory processing sensitivity behavior moderates the association between environmental harshness, unpredictability, and child socioemotional functioning.
Building on Ellis et al.'s theorization for potent dimensions of environmental adversity, the present work sought to evaluate how environmental harshness and unpredictability might function directly and in interaction with child sensory processing sensitivity (SPS) to shape the development of child socioemotional functioning. Participants were 235 young children (Mage = 2.97 at the first measureme…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.
Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform service providers to enhance their practices. We conducted a self-report survey among adults with the rare disorders hereditary spastic paraparesis (HSP; n = 108; mean age…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」