Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.

Introduction and importance: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be diagnosed antenatally as early as 13 weeks of gestation. Case presentation: The authors reported a case of thanatophoric dysplasia on USG in a 19 year old young consanguineous female in her second trimester of pregnancy. Ultrasound examination showed a clover leaf-shaped skull, a widened anterior fontanel, a coarse and edematous face, a flattened nasal bridge, a short neck, a low set of ears, shortening of both upper and lower limbs with short fingers, bowed thighs and legs, and a relatively narrow thorax. Clinical discussion: Lung hypoplasia, polyhydramnios, and hydrops in affected individuals lead to a poor prognosis. Hence, timely intervention should be done to avoid a poor prognosis. However, a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis. Conclusion: The authors reported this case due to the rarity of this condition and the need for a systematic and multidisciplinary approach.

Acute liver failure in a young patient with dengue shock syndrome: a case report.

Dengue fever is caused by dengue virus, which has four different serotypes and is transmitted by the Aedes mosquitos. This disease is endemic to Southeast Asian countries, including Nepal. Liver involvement in dengue is a crucial feature, and the effect ranges from an asymptomatic rise in liver enzymes to the development of acute liver failure. Acute liver failure often results in multiorgan dysfunction including hemodynamic instability, renal failure, cerebral edema, and even death because of shock. Prompt diagnosis and management are necessary to prevent complications. However, there is no proven proper treatment for this condition, and the only treatment modality is to prevent the symptoms. We presented the case of a young female with dengue fever who developed a life-threatening acute liver failure because of dengue shock syndrome.

Cholera amid COVID-19: Call from three nations; India, Bangladesh, and Nepal.

Covid-19 was a major pandemic of the 21st century that flinched away every individual worldwide. The extensive impact of this rapidly spreading deadly virus doomed the health care systems with the unexpected wave wreaked havoc leading to a global health crisis. It has been a high burden on the functioning existing medical system, overloads health professionals, disruption of the medical supply chain. The economy of the nations has been at losses with a significant slowing down in revenue growth over the past 2 years. After taking its toll, drawing away other diseases including cholera. The three developing nations; India, Bangladesh and Nepal, are now at the verge of facing an outbreak of Cholera. It is not surprising to hear cholera in this nation but the fact that its negligence due to Covid-19 pandemic and monkeypox along with a crumbled health system due to the pandemic has made these nations vulnerable for health crisis. Along with this three nations, cholera has made its way to different parts of this globe and it is high time that attention must be drawn towards it as mismanagement could even cause life.

Association of asthma and herpes zoster, the role of vaccination: A literature review.

Herpes Zoster (HZ) is the reactivation of a previous infection with varicella-zoster virus (VZV) which shares the same mode of transmission as HZ. It presents with painful erythematous vesicles in a dermatome which is characterized by a burning sensation before and after the rash. Any conditions with suppressed cellular immunity example diabetes mellitus, chronic obstructive pulmonary disease, asthma, cardiovascular diseases, chronic steroid uses, malignancy, etc. causes reactivation of the virus. Impaired immune responses in asthma patients either in any age group may increase their susceptibility to HZ infection owing to skewed Th1/Th2 immunity, resulting in predominant Th2 conditions and an unwarranted Th2 cell response against respiratory allergens. Similarly, many studies have delineated the association of asthma with HZ. However, the relation between steroid use in asthma and HZ is uncertain, its immunosuppressive effect might be responsible for increased susceptibility to the infection. As HZ increases the economic burden and morbidity, its prevention should use vaccines. There are two types of Food and Drug Administration (FDA)-approved vaccine available against HSV one of which is given as a single dose vaccine called Zostavax, for people 50-59 years but its efficacy falls after 3rd dose and on the subsequent 4th dose and is also contraindicated in human immunodeficiency virus/acquired immunodeficiency syndrome, pregnancy and people taking immunosuppressive drugs. Shingrix is preferred by FDA which is a two doses vaccine that is given 6 months apart for people above 50 years and to immunocompromised people. Hence, proper counseling and education about the risks of herpes should be informed to the patients with timely utilization of the vaccine.

Multiple Endocrine Neoplasia Type 1 with Concomitant Existence of Malignant Insulinoma: A Rare Finding.

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.

Pancreatic Neuroendocrine Tumor with Benign Serous Cystadenoma: A Rare Entity.

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.

Prevalence of Cardiovascular Risk Factors in Apparently Healthy Urban Adult Population of Kathmandu.

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.

Partial Invasive Mole with Bilateral Torsion of Theca Lutein Cysts.

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 ßhCG monitoring. First trimester dating scan would have helped in early diagnosis, treatment and prevention of complications.

Dystrophic Epidermolysis Bullosa.

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.