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Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that controls a variety of cellular functions. The PPP2R1A gene is present on chromosome 19 (19q13.41). Its mutation can interrupt B56δ-dependent dephosphorylation where B56δ is greatly expressed in the neural tissues. We present a case of a 14-month-old boy with infantile spasms, developmental delay, obstructive sleep apnea, PPP2R1A gene mutation, congenital hydrocephalus, hypoplastic/absent corpus callosum, pontocerebellar hypoplasia, and medically refractory seizures. He underwent multiple surgical procedures that include endoscopic third ventriculostomy with choroid plexus cauterization, ventriculoperitoneal shunting, and external ventricular drain for progressive hydrocephalus with multiple antiepileptic regimes for refractory epilepsy with variable response.

Pulmonary tuberculosis, caused by Mycobacterium tuberculosis, is a significant public health issue, especially in developing countries, affecting millions of people every year. Despite the development of many antitubercular antibiotics and increased awareness of preventive methods, it is still a major cause of mortality worldwide. Vitamin D, a micronutrient known to have a major role in bone and calcium metabolism, has also shown its immunomodulatory effects to suppress mycobacterial growth. We conducted a systematic review and meta-analysis of the available evidence to explore the association between vitamin D levels and tuberculosis. We performed a systematic search for articles from inception to May 2021 in multiple databases. We included 26 studies in our qualitative synthesis and 12 studies in meta-analysis or quantitative synthesis. In our meta-analysis, we used a random-effect model to calculate the odds ratio (OR) of vitamin D deficiency in tuberculosis patients compared to the healthy controls. On pooled analysis, we found that the odds of the participants having vitamin D deficiency was 3.23 times more in tuberculosis patients compared to the healthy group (OR=3.23, CI = 1.91-5.45, p

Scrub typhus is endemic among farmers in the rural southern part of Nepal. It is grossly underdiagnosed due to a lack of clinical suspicion and inadequate testing facilities. The most common clinical features of the disease include fever, rashes, vomiting, myalgia, and eschar. The disease may present with ocular changes such as conjunctival injection, gastrointestinal features such as hepatitis and splenomegaly, acute kidney injury (AKI), or neurological findings in the form of meningoencephalitis. Herein, we present a report of three cases of scrub typhus from a rural part of South-west Nepal who failed to receive appropriate treatment initially. One of the patients recovered well with the treatment, the other developed AKI but recovered over the next few weeks. One of the patients died due to sepsis/multiorgan failure secondary to scrub typhus. While managing such cases in places with limited diagnostic facilities, the incorporation of early appropriate empirical therapy for scrub typhus after a careful clinical assessment prevents complications and saves lives.

Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome of autosomal dominant inheritance defined by co-occurrence of two or more tumors originating from the parathyroid gland, pancreatic islet cells, and/or anterior pituitary. Insulinoma which has an incidence of 0.4% is a rare pancreatic neuroendocrine tumor. Malignant insulinoma is extremely rare, while primary hyperparathyroidism is a common occurrence in MEN1. We present a case of MEN1 syndrome with 2.6 cm insulinoma in the pancreatic head and parathyroid adenoma in a 56-year-old female who presented with symptoms suggestive of hypoglycemia like multiple episodes of loss of consciousness for four years. Classical pancreaticoduodenectomy was carried out, and the postoperative period was uneventful. Later, subtotal parathyroidectomy was performed, which showed parathyroid adenoma. Patients presenting with features of hypoglycemia should be vigilantly assessed for the presence of a sinister pathology.

Global health is a multidisciplinary and interdisciplinary approach of dealing transnational determinants of health. Strengthening health care institutions is vital for achieving universal health care. It also favors global health outcomes as it bridges gaps of health inequalities and saves numerous lives. In Nepal, the Institute of Medicine, Tribhuvan University is offering global health course since 2013. This paper discusses practical application of the learnings from the global health course to make commendable achievements at a primary health center. The global health course can be the foundation for transforming clinicians and public health practitioners into promising global health leaders. This will contribute to improve basic health care services, quality care, and vaccination program to improve the health of population. Therefore, global health course should be an imperative of medical education to capacitate doctors working in these settings to better understand the social determinants of disease prevention, care and rehabilitation.

(1) Background: Stroke incidence and outcomes are influenced by socioeconomic status. There is a paucity of reported population-level studies regarding these determinants. The goal of this ecological analysis was to determine the county-level associations of social determinants of stroke hospitalization and death rates in the United States. (2) Methods: Publicly available data as of 9 April 2021, for the socioeconomic factors and outcomes, was extracted from the Centers for Disease Control and Prevention. The outcomes of interest were “all stroke hospitalization rates per 1000 Medicare beneficiaries” (SHR) and “all stroke death rates per 100,000 population” (SDR). We used a multivariate binomial generalized linear mixed model after converting the outcomes to binary based on their median values. (3) Results: A total of 3226 counties/county-equivalents of the states and territories in the US were analyzed. Heart disease prevalence (odds ratio, OR = 2.03, p < 0.001), blood pressure medication nonadherence (OR = 2.02, p < 0.001), age-adjusted obesity (OR = 1.24, p = 0.006), presence of hospitals with neurological services (OR = 1.9, p < 0.001), and female head of household (OR = 1.32, p = 0.021) were associated with high SHR while cost of care per capita for Medicare patients with heart disease (OR = 0.5, p < 0.01) and presence of hospitals (OR = 0.69, p < 0.025) were associated with low SHR. Median household income (OR = 0.6, p < 0.001) and park access (OR = 0.84, p = 0.016) were associated with low SDR while no college degree (OR = 1.21, p = 0.049) was associated with high SDR. (4) Conclusions: Several socioeconomic factors (e.g., education, income, female head of household) were found to be associated with stroke outcomes. Additional research is needed to investigate intermediate and potentially modifiable factors that can serve as targeted interventions.

Introduction: Stroke hospitalization and mortality are influenced by various social determinants. This ecological study aimed to determine the associations between social determinants and stroke hospitalization and outcome at county-level in the United States. Methods: County-level data were recorded from the Centers for Disease Control and Prevention as of January 7, 2020. We considered four outcomes: all-age (1) Ischemic and (2) Hemorrhagic stroke Death rates per 100,000 individuals (ID and HD respectively), and (3) Ischemic and (4) Hemorrhagic stroke Hospitalization rate per 1,000 Medicare beneficiaries (IH and HH respectively). Results: Data of 3,225 counties showed IH (12.5 ± 3.4) and ID (22.2 ± 5.1) were more frequent than HH (2.0 ± 0.4) and HD (9.8 ± 2.1). Income inequality as expressed by Gini Index was found to be 44.6% ± 3.6% and unemployment rate was 4.3% ± 1.5%. Only 29.8% of the counties had at least one hospital with neurological services. The uninsured rate was 11.0% ± 4.7% and people living within half a mile of a park was only 18.7% ± 17.6%. Age-adjusted obesity rate was 32.0% ± 4.5%. In regression models, age-adjusted obesity (OR for IH: 1.11; HH: 1.04) and number of hospitals with neurological services (IH: 1.40; HH: 1.50) showed an association with IH and HH. Age-adjusted obesity (ID: 1.16; HD: 1.11), unemployment (ID: 1.21; HD: 1.18) and income inequality (ID: 1.09; HD: 1.11) showed an association with ID and HD. Park access showed inverse associations with all four outcomes. Additionally, population per primary-care physician was associated with HH while number of pharmacy and uninsured rate were associated with ID. All associations and OR had p ≤0.04. Conclusion: Unemployment and income inequality are significantly associated with increased stroke mortality rates.

Mixed serous-neuroendocrine neoplasm constitutes pancreatic serous cystic neoplasms and pancreatic neuroendocrine tumor, two tumor components with different underlying pathologies. The differentiation of these tumors is important as the management and prognosis depend on the pancreatic neuroendocrine tumor component. We report a case of mixed serous-neuroendocrine neoplasm in a 47-year-old female who presented with epigastric pain abdomen for two years. Imaging studies, tumor markers, thorough systemic evaluation, surgical resection, histopathological examination, and timely follow-up constituted our management approach. A 4 cm × 4 cm mass in the distal pancreas with multiple cysts in the pancreatic parenchyma containing serous fluid on distal pancreatectomy and splenectomy was found. The histopathological examination revealed combined benign serous cystadenoma and neuroendocrine tumor. She did not have any recurrence or metastasis by four years of follow-up.

Background Atrial myxoma remains a rare clinical entity with an incidence of surgically resected cases of 0.5–0.7 per million population and prevalence of

Skin diseases are among leading health problems in Nepal. Fungal infections are the tenth most common reason of OPD visits in Nepal. Due to inappropriate or inadequate treatment, clinically modified tinea infections known as tinea incognito is very common. There is no dermatological care in the primary health centers. The medical officers in these centers have inadequate training to manage skin diseases, while the health workers have no training. Most dermatologists are based in tertiary hospitals and medical colleges of bigger cities. Mobile teledermatology is an innovative method to provide dermatological care to the health centers where there are no dermatologists. It is equally effective means of on-site training for the medical officers. We report two cases of tinea incognito, which were treated by a medical officer at a primary health center with the aid of mobile teledermatology consultation provided by a dermatologist.

Rational use of drugs has immense impact on quality health care. Developing nations have 80% essential drug list prescription. Even though WHO estimates 15-25% antibiotics prescription in these regions, majority of Nepalese patients are prescribed more than one antibiotic in addition to inappropriate prescription in 10%-42% patients.Moreover, Nepal stands as a leading antibiotics prescribing Asian nation. Escalating irrational prescription and excessive over the counter use of antibiotics at peripheral regions of Nepal is possibly leading the emergence of multidrug resistant bacteria.Organisms like S. pneumoniae, K. pneumoniae, Salmonella spp., E. coli, N. gonorrhea, MRSA are rapidly developing first-line, second-line and multi-drug resistance in Nepal. Antimicrobial resistance is the biggest global health concern of the present day threatening the emergence of post antibiotic era. Timely intervention is must to safeguard future generation.Keywords: Antimicrobial resistance; irrational prescription; primary health care.

Gestational trophoblastic neoplasia is extremely rare entity accounting 1% of all gynecological malignancies. Invasive mole is a form of Gestational trophoblastic neoplasia which is locally invasive with propensity of metastasis. Association of partial mole with invasive mole and/or theca lutein cysts is a rare occurrence. Large cysts may present with complications. A case with these rare combinations presented at 15+3 weeks period of gestation as acute abdomen due to torsion of bilateral theca lutein cysts is reported. Right salpingo-ophorectomy with untwisting of left cyst was done. Six cycles of chemotherapy was given with regular βhCG monitoring. First trimester dating scan would have helped in early diagnosis, treatment and prevention of complications. Keywords: Invasive mole; theca lutein cysts; torsion.

Background: Cardiovascular diseases account for most deaths and major proportion of disabilities worldwide. Major cardiovascular risk factors are implicated in almost 75% of cardiovascular diseases. There has been a rapid increase in prevalence of such risk factors in apparently healthy young adults of urban population. This study aimed to find prevalence of such risk factors in order to implement preventive strategies against cardiovascular diseases in our setting.Methods: A free heart camp was organized following wide dissemination of information through print, online, TV, radio and social media. Pretested data collection tool was used by trained enumerators using standard guidelines and calibrated devices. Demographic, anthropometric, physical examination and blood investigation data were obtained. Standard guidelines were followed to define and categorize the obtained information. Data was analyzed using SPSS V20.Results: A total of 5530 participants were enrolled after carefully applying inclusion and exclusion criteria. Mean age of study population was 38.14±13.03 years. There were 3298 (59.6%) males with mean age of 37.67±12.99 years and 2232 (40.4%) females with mean age of 38.84±13.05 years. Majority of study population (29.6%) belonged to 30-39 years age group. Prevalence of tobacco and alcohol consumption was 29.3%(95%CI:28.1-30.5) and 32.7%(95%CI:31.5-34.) respectively. Prevalence of inadequate fruits and vegetables intake, low physical activity and overweight or obesity was 75.4%(95%CI:74.3-76.6), 61.1%(95%CI:59.8-62.4) and 41.3%(95%CI:40.0-42.6) respectively. Prevalence of hypertension, diabetes and dyslipidemia was 26.4%(95%CI:25.3-27.6), 5.3%(95%CI:4.7-5.9) and 86.9%(95%CI:85.9-87.7) respectively. These results were statistically significant in both age and sex based distribution.Conclusions: Prevalence of major cardiovascular risk factors in apparently healthy adult population of Kathmandu Valley was high. Dyslipidemia, unhealthy diet, physical inactivity and overweight or obesity were most prevalent cardiovascular risk factors. Keywords: Cardiovascular risk factors; healthy adults; prevalence; urban population.

Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow-up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26-year-old male. Keywords: blister; dystrophic epidermolysis bullosa; epidermolysis bullosa; knee disarticulation; surgery.

Male breast cancer constitutes less than 1% of all breast carcinomas whereas Paget’s disease accounts for less than 1% of entire breast cancers. Unawareness and misdiagnosis lead to delayed presentation at a higher grade making the prognosis worse than females. Genetics and hormonal factors are strongly linked to its occurrence. Investigations, diagnosis, staging and management strategies for male breast cancers are concluded from studies done in female cases. We present a case of a 65 years literate gentleman who presented with fungating right breast mass with bleeding ulcer who underwent modified radical mastectomy, chemotherapy, radiotherapy and hormonal therapy.