Ataxia telangiectasia: a rare case report from Nepal.

Introduction and importance: Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder with early childhood onset. It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and lymphoid-origin cancer predisposition due to ataxia telangiectasia mutated gene mutations. Case presentation: The authors present a 19-year-old girl with spastic movements since 18 months, leading to wheelchair dependence. Ocular telangiectasia, dystonic posture, and slurred speech were evident. Diagnosis involved elevated alpha-fetoprotein levels and typical brain imaging. Clinical discussion: A-T due to ataxia telangiectasia mutated gene mutations located on chromosome 11q22-23. It has varied presentations categorized by age and features. Timely diagnosis relies on characteristic symptoms, lab findings, and imaging. Radiation sensitivity and increased cancer risk underscore cautious radiation use. Conclusion: A-T is a complex disorder with no cure. Genetic counseling for parents is vital. Its poor prognosis due to infection susceptibility and cancer risk necessitates supportive care. Comprehensive management, including genetic counseling and careful surveillance, is imperative.

Maternal exposure to folate antagonists and susceptibility to congenital heart disease in offspring: A systematic review and meta-analysis.

AIMS: The objective of this meta-analysis was to determine whether maternal exposure to folate antagonists is associated with increased rates of congenital heart disease in offspring. METHODS: A comprehensive search for articles in the MEDLINE (PubMed) and EMBASE databases published up to 21 August 2023 was performed. The search strategy was not limited by study design but only for articles in the English language. RESULTS: Analysis of 6 cohort studies and 5 cross-sectional studies, published between 1976 and 2020, showed significant increase in rate of congenital heart disease (odds ratio 1.55, 95% confidence interval, 1.28-1.87) when exposed to folate antagonists compared with the control. Further subgroup analysis showed the increased rate for exposure to both dihydrofolate reductase inhibitors and antiepileptic drugs separately. No differences were observed when analyses were stratified by timing of study. CONCLUSION: Administration of folate antagonists within the 12-week period preceding conception and throughout the second and third months of gestation exhibited a statistically significant elevation in the susceptibility to congenital heart diseases. Notably, the protective effect of folic acid supplementation was reported in cases of congenital heart disease linked to dihydrofolate reductase inhibitors but not that associated with antiepileptic drugs.

Arachnoid cyst presenting as a neurosurgical emergency: a case report.

Introduction: Arachnoid cysts are intra-arachnoid lesions filled with cerebrospinal fluid. They account for ~1% of all intracranial mass lesions and are non-neoplastic collections of cerebrospinal fluid within an anomalous arachnoid enclosure. Case presentation: The authors report a 35-year-old Arabian male who presented to the ER with a history of sudden loss of consciousness, anisocoria, and right hemiparesis. Contrast tomography showed a large frontoparietotemporal cyst (7.7×5.8×5.4) with uncal herniation and a midline shift of 12 mm. An emergency left FTP craniotomy with an excision of the cyst was performed. Discussion: Arachnoid cysts can be categorized as primary or secondary, arising congenitally or due to factors like trauma, infection, or neoplasia. It can rupture, leading to internal bleeding, causing symptoms such as headaches, seizures, and neurological decline. Rapid diagnosis is vital, with cranial computed tomography scans preferred for emergencies. Treatment options include surgical intervention like craniotomy, fenestration, or cyst peritoneal shunts. For uncal herniation, surgery can be successful and results depends on the amount of herniation. Conclusion: Although benign, the arachnoid cysts led to uncal herniation when they become 'tension' cysts. A high level of suspicion is crucial for early recognition of the condition. Timely intervention has shown positive recovery outcomes.

Association of vaccination status with the clinicobiochemical profile, hospital stay, and mortality in COVID-19: A case-control study.

Background and Aims: The effectiveness of coronavirus disease 2019 (COVID-19) vaccines in reducing symptoms, disease advancement, complications, and mortality in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been well-established. This case-control study aimed to compare different blood parameters, and prognostic and survival outcomes of COVID-19 patients based on vaccination status. Methods: We performed a case-control study that included hospitalized patients with COVID-19 at Tribhuvan University Teaching Hospital, Kathmandu, Nepal. Individuals who received vaccination were designated as cases and unvaccinated individuals as controls. Demographics, co-morbidity, clinical data, laboratory data, and disease outcomes were recorded for both groups. Multivariate, Cox, and linear regression were used for analysing blood parameters, hospital admission, survival, and hospital stay, respectively, between cases and controls. Results: Out of 100 participants enrolled, 46 were vaccinated, and 54 weren't. At admission, ferritin and erythrocyte sedimentation rate (ESR) were significantly lower in cases. At discharge, cases showed a higher monocyte than controls. Ferritin, ESR, and d-imer showed excellent performance in determining the severity of symptoms. Significant correlation and regression of ferritin and ESR with the length of hospital stay was observed. Length of hospital stay was significantly lower in cases than in controls. No significant differences between cases and controls were observed in mortality. Conclusion: COVID-19 vaccines effectively reduced hospitalization duration. Ferritin and ESR were significantly lower in vaccinated individuals and showed the best utility in monitoring the disease.

Patient with Dravet syndrome: A case report.

Dravet syndrome is rare genetic epilepsy syndrome and epileptic encephalopathy. The patient initially has normal developmental profile with plateau or regression that begins after seizure onset. We report a case of two-year-old child diagnosed as dravet syndrome with moderate cerebral atrophy and ventricular dilatation as rare MRI finding.

Late onset ST-elevation myocardial infarction (STEMI) in patient with COVID-19: A case report from Nepal.

Introduction: Although pulmonary consequences are less common in COVID-19 than cardiac issues, it is critical to understand the cause of probable cardiac complications and put the patient on constant watch, especially if they have risk factors such as diabetes mellitus. Case presentation: Here, we report a case of 82-years old male with ST-segment elevated myocardial infarction (STEMI) that was developed as a complication of COVID-19. Discussion: COVID-19 is now known to cause cardiovascular issues such as myocardial damage, heart failure, arrhythmia, and venous thromboembolism. With the involvement of COVID-19, the prevalence of cardiovascular manifestation has increased. The precise processes of extrapulmonary and systemic manifestations following COVID-19 are unknown. There is an elevated risk of cardiovascular harm, notably myocardial infraction followed by acute infection. Conclusion: It is essential to understand the mechanism of potential cardiac complications and to keep the patient on close watch, especially if the patient has risk factors such as diabetes mellitus.

Stereoacuity among Undergraduate Medical and Nursing Students at a Tertiary Care Hospital: A Descriptive Cross-sectional Study.

INTRODUCTION: Stereopsis is defined as the ability to perceive object depth. It is measured in seconds of arc. Reduced stereoacuity impinges one's academic as well as a professional performance. Hence in this study, we aim to find out the mean stereoacuity among the undergraduate medical and nursing students using the Titmus fly test. METHODS: A descriptive cross-sectional study was conducted among undergraduate students at a medical college of Nepal from April 2021 to July 2021. Ethical approval was obtained from the Institutional review committee (Registration number: 487 (6-11) E2 077/078). Simple random sampling method was used. Data were collected from undergraduate medical and nursing students while the post-graduate students were excluded from the study. Overall, 80 students were included in the study. Titmus fly test was used to assess the stereopsis. Statistical Package for Social Sciences version 21 and Microsoft Excel was used for data analysis. Point estimate at 95% confidence interval was calculated along with mean, standard deviation, frequency, and proportion. RESULTS: The mean stereoacuity was 62.63±46.56 (range 40-800) sec of arc (52.77-72.49 at 90% Confidence Interval). A total of 80 participants in our study among which 50 (62.5%) were male and 30 (37.5%)were female. About 41 (51.2%) of the study participants had normal, borderline (>40 and ≤ 120) stereopsis was seen in 35 (43.8%) of the study participants while only 4 (5%) had reduced stereopsis (≥120 sec of arc). CONCLUSIONS: This study showed that the mean stereoacuity among the undergraduate medical and nursing students was in subnormal range which was similar to other studies.

Bronchopleural fistula and bilateral pneumothorax in a patient with COVID-19.

COVID-19 pneumonia causes several complications that include pneumothorax, hydropneumothorax, empyema, and rarely leads to bronchopleural fistula (BPF). BPF is a communication between the pleural space and the bronchial tree. We report a case of 24 years man with pneumothorax, hydropneumothorax, and BPF that appeared after COVID-19 infection.