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1.
Zhonghua Yan Ke Za Zhi ; 60(2): 180-184, 2024 Feb 11.
Artículo en Chino | MEDLINE | ID: mdl-38296324

RESUMEN

Different from classical autosomal recessive Wolfram syndrome, Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene. In this case, a 7-year-old male child presented to the eye clinic due to vision loss that could not be corrected, discovered during a routine examination. The child had experienced hearing impairment since early childhood, leading to cochlear implantation. Ophthalmic examination revealed optic disc atrophy in both eyes. Optical coherence tomography imaging demonstrated a distinctive thickening of the outer plexiform layer with abnormal layering, characteristic of a single mutation in the WFS1 gene. Subsequent genetic testing identified a de novo heterozygous missense mutation c.2051C>T (p.A684V) in the WFS1 gene, which ultimately led to the diagnosis of Wolfram-like syndrome.


Asunto(s)
Atrofia Óptica , Síndrome de Wolfram , Niño , Humanos , Masculino , Mutación , Atrofia Óptica/genética , Linaje , Tungsteno , Síndrome de Wolfram/genética , Síndrome de Wolfram/diagnóstico
2.
Zhonghua Liu Xing Bing Xue Za Zhi ; 39(1): 21-26, 2018 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-29374889

RESUMEN

Objective: To understand the sources and characteristics of newly reported HIV/AIDS cases in Yiwu, Zhejiang province, from 2015 to 2016. Methods: From January 1, 2015 to December 31, 2016, newly reported HIV/AIDS cases in Yiwu were recruited in the study and they were asked to complete an in-depth field epidemiology questionnaire. Information related to their previous sexual behaviors and infection sources or routes were collected in the survey. The data were processed and analyzed with EpiData 3.0 and SPSS 19.0 software. Results: A total of 320 participants from 393 newly reported HIV/AIDS cases in Yiwu during this period were surveyed and recruited in the study. Most of them were males (268, 83.8%), unmarried (141, 44.1%), aged between 25-44 years (166, 51.9%), had census register in other provinces (217, 67.8%) and educational level of junior high school (128, 40.0%). Among 305 cases whose infection times could be determined, 107 (35.1%) were newly infected within one year, and among 267 cases whose infection location could be determined, 200 (74.9%) were infected in Yiwu. New infections were mainly detected in those who had homosexual behaviors or causal sex partners (during the past year) and through active detection approach. Local infections were mainly among those who had local residence and commercial heterosexual behavior in Yiwu. Conclusions: Most newly reported HIV/AIDS cases in Yiwu from 2015-2016 were infected for more than one year and locally infected. Census registration of other provinces, homosexual sexual behavior, and casual sexual behavior give major contribution to HIV/AIDS epidemic in Yiwu.


Asunto(s)
Infecciones por VIH/diagnóstico , Homosexualidad Masculina , Parejas Sexuales , Síndrome de Inmunodeficiencia Adquirida , Adulto , China/epidemiología , Infecciones por VIH/epidemiología , Humanos , Masculino , Asunción de Riesgos , Conducta Sexual , Encuestas y Cuestionarios
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