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1.
JNMA J Nepal Med Assoc ; 62(270): 95-98, 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38409969

RESUMO

Introduction: Non-communicable diseases are a significant cause of mortality worldwide, posing a substantial risk to women's health, as stated by the World Health Organization. In Nepal, a survey revealed that 10.5% of the population suffers from hypertension. The primary objective of this study was to determine the prevalence of non-communicable diseases among women of reproductive age visiting the Department of Obstetrics and Gynecology of a tertiary care hospital. Methods: A descriptive cross-sectional study was conducted at the Department of Obstetrics and Gynecology among women of reproductive age presented from 6 November 2023 to 6 January 2024. The data was retrieved from the medical record during 1 November 2023 to 1 December 2023. Ethical approval was taken from the Institutional Review Committee. Convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Results: The prevalence of non-communicable diseases was 608 (39.02%) (36.60-41.45, Confidence Interval). The mean age was 29.26±3.46 years. The most common non-communicable disease reported was hypertension 204 (33.55%) followed by chronic respiratory diseases 200 (32.89%) and diabetes mellitus 154 (25.34%). Conclusions: The prevalence of non-communicable diseases among women of reproductive age group was higher as compared to other studies done in similar setting. The study underscores the urgency for stakeholders to implement health education, early detection, and preventive strategies, emphasizing the necessity of targeted interventions and broader public health initiatives to address non-communicable diseases. Keywords: chronic disease; non-communicable disease; prevalence; risk factors.


Assuntos
Ginecologia , Hipertensão , Doenças não Transmissíveis , Gravidez , Feminino , Humanos , Adulto , Doenças não Transmissíveis/epidemiologia , Estudos Transversais , Centros de Atenção Terciária , Hipertensão/epidemiologia
2.
JNMA J Nepal Med Assoc ; 62(270): 155-157, 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38409970

RESUMO

Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs. Here we report the case of a 5-month-old male presented at birth with hypotonia, poor feeding, gross congenital anomalies and later during early infancy with failure to thrive, several episodes of seizures, aspiration due to feeding difficulties and recurrent severe pneumonia. A whole genomic sequencing brought us to the final diagnosis of Zellweger syndrome. Despite an absence of treatment options, prompt diagnosis of Zellweger syndrome is important for providing appropriate symptomatic care, definitive genetic testing and prenatal counselling. Keywords: case reports; mutation; neonate; Zellweger syndrome.


Assuntos
Transtornos Peroxissômicos , Síndrome de Zellweger , Recém-Nascido , Humanos , Masculino , Lactente , Síndrome de Zellweger/diagnóstico , Síndrome de Zellweger/genética , Hipotonia Muscular/genética , Transtornos Peroxissômicos/genética , Testes Genéticos , Mutação
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