Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report by Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi

“…Genetic testing revealed heterozygous mutations in CYP27A1 (p.Arg405Gln) and apolipoprotein B (APOB) (p.Pro955Ser). He had no neurological symptoms, cataracts, or other features suggestive of cerebrotendinous xanthomatosis without Achilles tendon xanthomas. …”
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Clinical characteristics and factors associated with severe COVID-19 among hospitalized pediatric patients: a retrospective cohort study in the Chaoshan region of China by Xianyao Wang, Ruiling Ma, Ruiling Ma, Wenshan Zhong, Haipeng Lin, Hachao Zhou, Zhiwei Xiao, Shaofen Lin, Yutao Guo, Xufeng Zheng, Mingxiang Lin

“…Based on our cohort, particular attention may be warranted for children aged 1–1.5 years presenting with neurological symptoms, as all fatal cases (n = 3) in this age group were associated with acute necrotizing encephalopathy (ANE), and two were additionally complicated by multisystem inflammatory syndrome in children (MIS-C).…”
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NEUROSYPHILIS IN THERAPEUTIC PRACTICE: CLINICAL OBSERVATION by N. A. Shostak, D. P. Kotova, A. A. Klimenko, N. G. Pravdyuk, A. V. Novikova, Yu. O. Kasha

“…Considering reliable history of syphilis, positive serum confirmation tests for syphilis (nontreponemal: rapid plasma reagin test 3+; treponemal: passive hemagglutination reaction 4+, antibodies against T. pallidum (total) – present), history of neuropsychological symptoms (transient amnesia) and acute neurological symptoms before hospitalization (transient ischemic attack), brain MRI data (2 lesions of cerebral circulation disorders of ischemic type in the cortical branches of left and right mesencephalic arteries), a diagnosis of neurosyphilis was proposed, and lumbar puncture was performed for confirmation. …”
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Sensitivity of the Baroreceptors and the State of the Autonomic Nervous System in Patients with Chronic Impairment of Consciousness Due to Severe Brain Damage by V. N. Dorogovtsev, D. S. Yankevich, A. L. Parfenov, A. E. Skvortsov, A. V. Kotelnikova

“…The comparison group included 24 patients with focal neurological symptoms caused predominantly — 79.2% of cases — by cerebrovascular disorders (group 2). …”
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Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights by Xuebi Xu, Junhui Xia, Fei Xu, Mingshan Wang, Lihong Yang, Xiaoli Chen

“…Homozygous or compound heterozygous missense variants were identified as the predominant genetic alterations in 16 Chinese MNGIE cases, with gastrointestinal and neurological symptoms being the most common clinical manifestations. …”
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Comparative effectiveness of non-pharmacological interventions on anxiety, depression, and quality of life in patients with epilepsy: a systematic review and network meta-analysis by Haoran Luo, Xianming Ding, Junyu Zhang, Ningkun Xiao, Ningkun Xiao

“…IntroductionEpilepsy is a persistent neurological condition featuring abnormal electrical activity in the brain. Beyond its neurological symptoms, it is frequently associated with comorbid anxiety and depression, which significantly impair patients’ quality of life (QoL). …”
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SINGLE AND MULTIPLE ISCHEMIC BRAIN MICROLESIONS AFTER CAROTID ARTERY STENTING by E. S. Bulgakova, T. V. Tvorogova, В. A. Rudenko, O. М. Drapkina

“…Patients with single brain microlesion differed from patients without lesions greater frequency of calcified atherosclerotic plaques (64.3% vs 31.1%, p<0.05), usage of proximal embolic protection devices (21.4% vs 0.0% p<0.01) and predilatation (35.7% vs 13.3%, p<0.05), perioperative neurological symptoms (21.4% vs 4.4%, p<0.05, and higher SBP levels during 24 h after CAS (mean values 137-122 mm Hg vs 120-112 mm Hg, p<0.05).Conclusion. …”
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