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1.
J Med Life ; 14(6): 841-846, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35126756

RESUMEN

Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. This study aimed to verify the frequency of three GJB2 mutations in non-syndromic sensorineural deafness in the Iraqi population. The current case-control study was conducted from January 2018 to January 2020. The study included 95 deafness patients (55 males and 40 females) and 110 healthy control group. Age and sex were matched between the two groups. In order to detect c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the PCR-RFLP technique. The c.35delG was the main frequent mutation encountered with the GJB2 gene among patients with autosomal recessive non-syndromic sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%) were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%) wild genotypes. None of the 95 deaf patients showed the c.167delT mutation, and no mutations appeared in the control group. Our data concluded that the GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population.


Asunto(s)
Conexinas , Pérdida Auditiva , Estudios de Casos y Controles , Conexina 26 , Conexinas/genética , Femenino , Pérdida Auditiva/epidemiología , Pérdida Auditiva/genética , Humanos , Masculino , Mutación
2.
J Pak Med Assoc ; 70(11): 1975-1978, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33341843

RESUMEN

OBJECTIVE: To determine the prevalence of nasal polyposis among allergic patients, and to investigate the impact of polyposis on allergic inflammatory markers. METHODS: The cross-sectional study was conducted from January 2018 to January 2019 at the Asthma and Allergy Centre, Babylon, Iraq, and comprised patients aged 15-71 years with allergic asthma and or allergic rhinitis. The patients were divided into two groups; A with nasal polyposis, and B without nasal polyposis. Other than demographical data, total serum immuglobulin E, and blood eosinophil percentage were collected. Data was analysed using SPSS 22. RESULTS: Of the 240 patients, 81(33.8%) were in group A, and 159(66.2%) were in group B. The overall mean age of the sample was 35.9±13.8 years. The overall mean immunoglobulin E level was 221±141 and the mean peripheral eosinophil percentage was 4±1.68. Prevalence of nasal polyposis increased with age (p<0.05), but was not affected by gender or residency (p>0.05). The markers increased significantly in the presence of polyposis in patients with respiratory allergy (p<0.05). CONCLUSIONS: Nasal polyposis was found to be highly prevalent in patients with respiratory allergy and the combined presence of these two diseases caused additional increment in allergic markers.


Asunto(s)
Asma , Pólipos Nasales , Rinitis Alérgica , Adolescente , Adulto , Anciano , Asma/epidemiología , Estudios Transversales , Humanos , Irak , Persona de Mediana Edad , Pólipos Nasales/epidemiología , Rinitis Alérgica/epidemiología , Adulto Joven
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