Zellweger Syndrome: A Case Report.

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.

Unilateral diaphragmatic palsy and pleuropericarditis in a patient with granulomatosis with polyangiitis: a case report.

BACKGROUND: Granulomatosis with polyangiitis (GPA) is a rare small vessel vasculitis predominantly affecting upper and lower respiratory tract and kidneys. Unilateral diaphragmatic palsy could be a rare manifestation of GPA. Here we report a case of GPA in a 45-year-old male with unilateral diaphragmatic palsy with pleuropericarditis. CASE PRESENTATION: We report a case of a 45-year-old Khas male who presented with acute onset chest pain and shortness of breath who had elevated right hemidiaphragm, bilateral pleural effusion and pericardial effusion who was later diagnosed as GPA. CONCLUSIONS: GPA should be suspected in all patients with diaphragmatic palsy and pleuropericarditis with appropriate clinical and laboratory picture.

Case Report: Anti-MDA-5 dermatomyositis in a resource-limited setting.

Anti-Melanoma Differentiation-Associated gene 5 (Anti-MDA-5) dermatomyositis is a rare subtype of inflammatory myopathy characterized by unique skin lesions, rapidly progressive interstitial lung disease, and skeletal muscle inflammation. It has a high mortality rate in the absence of early treatment. However, diagnosis of this entity is challenging in a country like Nepal because of various constraints such as lack of expert rheumatologists and resource limitations. Here we describe a case of one patient who had presented to us with generalized weakness, cough and shortness of breath who was finally diagnosed as anti-MDA-5 dermatomyositis. He responded to combination of immunosuppressives and is currently doing well. This case highlights the diagnostic and therapeutic challenges in managing such cases in a resource-limited setting.

Experiences of Young Doctors Working in Rural Nepal.

Medical graduates studying on full and partial scholarships are subjected to a mandatory two years of bonding service program to overcome regional inequalities in the distribution of health workers between rural and urban areas. It might be a challenging journey, but it is crucial for the personal and professional growth of young doctors. Working in places distant from home and medical school can also be difficult, especially when the doctors are not adequately trained. During the bond, young graduates are exposed to a variety of clinical and non-clinical circumstances, which can aid in their maturation. Keywords: health; health policies; rural health.

Case Report: Adult Onset Still's Disease after vaccination against Covid-19.

Vaccination against the virus responsible for COVID-19 has become key in preventing mortality and morbidity related to the infection. Studies have shown that the benefits of vaccination outweigh the risks. However, there are concerns regarding serious adverse events of some vaccines, although they are fortunately rare. Here, we report a case of a 47-year-old female from Kathmandu who presented with high grade fever, dry cough and erythematous rash a week after exposure to the Oxford-AstraZeneca vaccine. She had hepatosplenomegaly, persistent leucocytosis, anaemia and thrombocytosis along with markedly raised inflammatory markers. Her tests for infectious causes and haematological malignancies were negative and she showed no response to multiple antibiotics. Finally, she had a dramatic response to steroids with disappearance of fever and normalization of other laboratory parameters. Hence, she was diagnosed with Adult-onset Still's Disease (AOSD). She was under methotrexate and prednisolone tapering dose and doing well as of the time of writing. The trigger for the disease was hypothesized to be the vaccine because of the strong temporal association.

Prevalence of Smoking among Medical Students in a Tertiary Care Teaching Hospital.

INTRODUCTION: Tobacco smoking is one of the most important preventable risk factors for noncommunicable diseases. It has been seen that medical students have a higher frequency of smoking compared to the general population. This study aims to determine the prevalence of smoking among third-year medical students in a tertiary care teaching hospital in Nepal. METHODS: This descriptive cross-sectional study was conducted among the hospital's third-year undergraduate medical students over a four-month period (October 2019 to January 2020). Ethical clearance was received from the Institutional Review Committee of Kathmandu Medical College and Teaching Hospital. The whole sampling technique was used to collect data. The Global Health Professional Students Survey questionnaire was used to collect data. Data analysis was done in the statistical package for social sciences. RESULTS: The prevalence of current smoking among selected medical students of Kathmandu Medical College and Teaching Hospital is 34 (30.1%), majority male 26 (23%). Fifty-six (49.4%) of them had ever smoked cigarettes in their life, and 27 (23.9%) had their first cigarette in late adolescence. The number of students who used other forms of tobacco was comparatively lower i.e. 6 (5.3%). Many of the students 53 (46.9%) were exposed to second-hand smoke both at home and in public, while 18(15.9) exposed only at public places, and 6 (5.3%) only at home. CONCLUSIONS: Our study has concluded that there is a notable prevalence of smoking among the participants. This points to the need for specific training sessions in their clinical years about smoking cessation for themselves and regarding counseling for patients.

Sleep Quality among Medical Students of a Tertiary Care Hospital: A Descriptive Cross-sectional Study.

INTRODUCTION: Medical students are under constant stress due to demanding academic load, fear of exam failure and hectic schedules. These factors can lead to poor sleep quality among medical students. Sleep quality of medical students not only determine their academic performance but is also important in determining long term effect on cognitive, psychosocial, behavioural as well as physical health of individuals. Although there are not enough recent studies to assess sleep quality of students, it is necessary to evaluate the condition of sleep among students. This study aims to find out the prevalence of poor sleep quality among medical students. METHODS: This descriptive cross-sectional was conducted among undergraduate medical students of Kathmandu Medical College from October to November 2019 after taking ethical clearance from Institutional Review Committee of a tertiary care hospital before collecting data from participants. Subjects were recruited by simple random sampling from students of first, second, third and final years and were asked to fill the self-reported questionnaires, using Pittsburgh Sleep Quality Index. Descriptive statistical analysis was done using Statistical Software for Social Sciences version 24. RESULTS: Out of 217 selected medical students, 96 (44.23%) of students have poor sleep quality with prevalence among male and female students as 41 (39.8%) and 55 (48.2%) respectively. The mean duration of sleep among students was 6.7±1.6 hours. CONCLUSIONS: Significant numbers of medical students have poor sleep quality which may affect their academic performance and may have long term impact on their health. Efforts must be directed towards educating about the sleep hygiene as well as proper time management skills.

Management of Quadruplet Pregnancy: A Case Report.

Quadruplet pregnancy is a pregnancy state where four fetuses grow simultaneously inside a mother's womb. Four fetuses developing in a womb is a challenge not only to the mother but to the obstetrician who has to calculate every risk associated with such pregnancy. High order pregnancy is considered a high risk pregnancy due to increase in maternal, fetal and neonatal morbidity and mortality. So a multidisciplinary approach with early involvement of neonatologists and anesthesiologists for the assessment of such case is essential for a successful obstetric outcome. Here we present a case report of 27 years G3P1L1A1 at 33 weeks 2 days of gestation with quadruplet pregnancy with previous lower segment Cesarian section with history of ovulation induction, delivered successfully via cesarean section with successful outcome of all 1 female and 3 male babies. Keywords: case report; cesarean section; fertility agent; multiple pregnancy; pregnancy; quadruplets.

Improving Influenza Vaccination Coverage Among Patients With COPD: A Pilot Project.

Background and objective: Guidelines for chronic obstructive pulmonary disease (COPD) advocate regular influenza vaccination, which has been shown to reduce exacerbations. However, influenza vaccination rates remain low. This quality improvement project was initiated to help improve influenza vaccination rates in a tertiary hospital. Methods: All patients with COPD in the airway program (TAP) in the National University Hospital at the end of 2013 were recruited. The interventions were implemented in 2014; thus, population was stratified into the pre-intervention group and post-intervention group. Those who died in 2014 were excluded. They were (1) patient education posters in the clinics on the need for regular influenza vaccination, (2) direct interventions by physicians, and (3) intervention by the nurses when vaccinations were neglected. Physicians were made aware of previous vaccination rates, vaccination card reminders were placed in the clinics, and a new electronic healthcare record system (EHR) was implemented. The patients were followed up till the end of 2015 or until death. When an influenza vaccination was administered, the patients were asked which of the interventions led to the vaccination. A questionnaire was delivered to the physicians to determine the interventions that led to any change in vaccination prescription practices. Results: The pre-intervention influenza vaccination rate was low at 47.7%. The post-intervention influenza vaccination rate improved to 80.7% with the multi-pronged approach. Physicians initiated the majority of vaccinations (87.9%), while nurses helped intervene in a further 12.1%. Physicians' vaccination prescription practices changed as a result of self-awareness of low vaccination rates, vaccination card reminders, and the new EHR. Patient education made minimal impact. Conclusion: This project demonstrates that with regular audits to track progress and several easy-to-implement interventions, improving influenza vaccination rates is an achievable goal.