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Phenylketonuria.
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems. The prevalence varies worldwide, with an average of about 1:10…
💬 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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Genetic etiology and clinical challenges of phenylketonuria.
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. The prevalence of PKU varies widely among ethnicities and geographic regions, affecting approximately 1 in 24,000 indiv…
💬 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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Phenylketonuria and the brain.
Classic phenylketonuria (PKU) is caused by defective activity of phenylalanine hydroxylase (PAH), the enzyme that coverts phenylalanine (Phe) to tyrosine. Toxic accumulation of phenylalanine and its metabolites, left untreated, affects brain development and function depending on the timing of exposure to elevated levels. The specific mechanisms of Phe-induced brain damage are not completely unders…
💬 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 effects of long-term high-altitude exposure on cognition: A meta-analysis.
Long-term high altitudes (HA) exposure's impact on cognition has yielded inconsistent findings in previous research. To address this, we conducted a meta-analysis of 49 studies (6191 individuals) to comprehensively evaluate this effect. Moderating factors such as cognitive task type, altitude (1500-2500 m, 2500-4000 m, and above 4000 m), residential type (chronic and lifelong), adaptation level an…
💬 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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Astrocytic Piezo1-mediated mechanotransduction determines adult neurogenesis and cognitive functions.
Adult brain activities are generally believed to be dominated by chemical and electrical transduction mechanisms. However, the importance of mechanotransduction mediated by mechano-gated ion channels in brain functions is less appreciated. Here, we show that the mechano-gated Piezo1 channel is expressed in the exploratory processes of astrocytes and utilizes its mechanosensitivity to mediate mecha…
💬 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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Sepiapterin for the treatment of phenylketonuria.
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Untreated, PKU may result in severe and irreversible intellectual impairment due to marked hyperphenylalaninemia (HPA). Guidelines recommend lifelong reduction in Phe levels, usually achieved via a strict low-protein diet and sometimes medicat…
💬 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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Genetic disorders and neurobehavioural phenotypes.
💬 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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Parkinson's disease as a somato-cognitive action network disorder.
Parkinson's disease (PD) is an incurable neurological disorder that often begins insidiously with sleep disturbances and somatic symptoms, progressing to whole-body motor and cognitive symptoms1-5. Dysfunction of the somato-cognitive action network (SCAN)-which is thought to control action execution6,7 by coordinating arousal, organ physiology and whole-body motor plans with behavioural motivation…
💬 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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Association of Cumulative Blood Pressure With Cognitive Decline, Dementia, and Mortality.
Elevated blood pressure (BP) has been linked to impaired cognition and dementia in older adults. However, few studies have accounted for long-term cumulative BP exposure. The aim of this study was to test whether long-term cumulative BP was independently associated with subsequent cognitive decline, incident dementia, and all-cause mortality among cognitively healthy adults. This study used data f…
💬 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?」