JNMA; journal of the Nepal Medical Association
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A Spigelian hernia is a hernia through the Spigelian fascia which are difficult to diagnose as they do not present with a subcutaneous swelling and can be dangerous as there is a high risk of incarceration. We report a case of a 51-year-old female who presented to our surgical unit with epigastric pain for 5 days. She was diagnosed with Spigelian hernia with esophagitis and antral gastritis with the help of a computed tomography scan and upper gastrointestinal endoscopy. The diagnosis was confirmed on diagnostic laparoscopy and transabdominal preperitoneal repair of the defect was performed using prolene mesh. Her post-operative period was uneventful. Spigelian hernias are rare and patients can present with atypical symptoms as in this case. Thus, imaging plays a vital role in diagnosis. Management is surgical and has good outcomes. ⋯ case reports; rectus abdominis; ventral hernia.
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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
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.
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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.