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1.
Front Pediatr ; 10: 971432, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35990002

RESUMO

We report a 14-year-old girl with a heterozygous p. Gln403Arg variant in the MYRF gene, who had five episodes of encephalopathy. She experienced reduced consciousness, numbness in the arm, and impaired verbal communication from day 4 of SARS-CoV-2 infection. Magnetic resonance imaging of her head showed reduced water diffusion in the corpus callosum and deep white matter. These features were similar to those seen in her previous episodes of encephalopathy. She was treated with methylprednisolone pulse therapy and recovered completely within a week.

2.
Hum Genome Var ; 9(1): 24, 2022 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-35688819

RESUMO

A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.

3.
Asian J Psychiatr ; 67: 102918, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34798384

RESUMO

Although many screening tools for delirium are available, delirium is still occasionally overlooked or misdiagnosed. One of the reasons for this is the lack of brief screening tools that do not require specialized training to use. The 4 'A's test (the 4AT) is a validated screening tool for delirium that can be administered in a very short time without specialized training. Herein, we evaluated the reliability and validity of the Japanese version of the 4AT (the 4AT-J). A total of 150 patients aged ≥ 65 years were enrolled. Their demographics and clinical characteristics were obtained within 24 hr of their hospitalization. On each patient's high-risk day of developing delirium, the 4AT-J was administered by a nurse, and the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-Ⅴ) and the Japanese version of Delirium Rating Scale-Revised-98 (DRS-98-J) were administered by a psychiatrist. Our analyses revealed that when a cut-off score of 4, the 4AT-J showed high sensitivity and specificity. The Cronbach's α-coefficient was similar to that of the original version. A receiver operating curve analysis showed sufficient power of the 4AT-J to discriminate delirium. The 4AT-J showed adequate reliability and validity for delirium screening in elderly patients.


Assuntos
Delírio , Idoso , Delírio/diagnóstico , Avaliação Geriátrica , Humanos , Japão , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
4.
Pediatr Int ; 61(7): 712-714, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31120634

RESUMO

BACKGROUND: Urinary tract infection (UTI) is one of the most common diseases in children, and urinary angiotensinogen (U-AGT) is a new biomarker gathering attention in many renal diseases. U-AGT reflects intrarenal renin-angiotensin system (RAS) activity. We conducted a study to measure U-AGT in children <4 months old with UTI. METHODS: All children <4 months old who came to Toshima Hospital with fever between January 2015 and December 2015 were included. Patients were divided into a UTI group and a non-UTI group, and U-AGT was measured. RESULTS: Median U-AGT was higher in patients with UTI compared with patients without UTI: (0.56 ng/dL, range, 0.025-2.753 ng/dL vs 0.13 ng/dL, range, 0.008-1.697 ng/dL, respectively; P < 0.05). CONCLUSIONS: U-AGT is elevated in UTI patients, and RAS activation may contribute to renal injury caused by UTI.


Assuntos
Angiotensinogênio/urina , Infecções Urinárias/diagnóstico , Biomarcadores/urina , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Infecções Urinárias/urina
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