JNMA; journal of the Nepal Medical Association
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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. ⋯ case reports; mutation; neonate; Zellweger syndrome.
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JNMA J Nepal Med Assoc · Feb 2024
Mean Amplitude of Diurnal Variation of Sub-Foveal Choroidal Thickness among Adults with Healthy Eyes Visiting Outpatient Department of a Tertiary Eye Care Centre.
The choroid, particularly the choroidal vasculature, plays an important role in the pathophysiology of various ocular diseases. Diurnal variation in the thickness of the choroid has been reported in previous studies. This study aimed to find the mean amplitude of diurnal variation of sub-foveal choroidal thickness among adults with healthy eyes visiting the outpatient Department of a tertiary eye care centre. ⋯ choroid; circadian rhythm; cross-sectional study; Ophthalmology.
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JNMA J Nepal Med Assoc · Feb 2024
High Dependency Unit Admissions among Patients with Lower Extremity Long Bone Fracture Visiting the Department of Orthopaedics in a Tertiary Care Centre.
Lower extremity long bone, femoral and tibial shaft, fractures often have associated injuries. Patients with lower extremity long bone fractures in the Department of Orthopaedics can land up in high dependency unit admissions, mostly due to underlying complications. The study aimed to find out the prevalence of high dependency unit admissions among patients with lower extremity long bone fractures visiting the Department of Orthopaedics in a tertiary care centre. ⋯ femoral fractures; prevalence; tibial fractures; traffic accidents.
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JNMA J Nepal Med Assoc · Feb 2024
High Serum Homocysteine among Women with Polycystic Ovarian Syndrome Visiting an Infertility Clinic of a Tertiary Care Centre.
Polycystic ovary syndrome is a common hormonal disorder that affects women of reproductive age which is characterized by hyperandrogenism, polycystic ovarian morphology, ovarian dysfunction, and hyperinsulinemia. Increased prevalence of cardiovascular disease and higher cardiovascular morbidity is seen in women with polycystic ovary syndrome. This study aimed to estimate the prevalence of high serum homocysteine levels among women with polycystic ovarian syndrome visiting an infertility clinic of a tertiary care centre. ⋯ body mass index; homocysteine; polycystic ovary syndrome; prevalence.
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JNMA J Nepal Med Assoc · Feb 2024
Non-Communicable Diseases among Women of Reproductive Age Visiting the Department of Obstetrics and Gynecology of a Tertiary Care Hospital.
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. ⋯ chronic disease; non-communicable disease; prevalence; risk factors.