Antisynthetase syndrome and interstitial lung disease: A case report.

Introduction: Myositis, Raynaud's phenomenon, fever, interstitial lung disease, mechanic's hands, and arthropathy are symptoms of Antisynthetase Syndrome (ASS), which is defined by the development of antibodies against t-ribonucleic acid (RNA) synthetase, particularly anti-Jo-1. Case presentation: The case is about 29 years female with 1 month history of non-productive cough and dyspnea on exertion which was later diagnosed as ASS. Discussion: The diagnosis of an inflammatory myopathy is based on clinical findings such as subacute development of symmetrical muscle weakness and signs such as laboratory investigations revealing skeletal muscle inflammation. Creatinine phosphokinase (CPK) is mainly used to demonstrate skeletal muscle involvement. Conclusion: Interstitial lung disease is a frequent occurrence and is associated with a bad prognosis during the course of antisynthetase syndrome.

Hemoglobin J in a patient with severe anemia, a case report from Nepal.

Introduction: Hemoglobin J is defined by a faster movement towards anode when compared with the normal hemoglobin A. Though a pathologically distinct entity from the normal HbA, it remains clinically silent due to little physiological difference as exemplified by a similar oxygen binding capacity between the two. Though cases of symptomatic HbJ have been reported, it is uncommon. Hence, further explanations should be sought in such cases. Case presentation: Our case report exemplifies the presence of an alpha thalassemia trait along with HbJ in a symptomatic case of anemia from rural Nepal. Discussion: CE-HPLC complemented by electrophoresis, is the method of choice for characterizing various hemoglobin variants including Hb J. Hb J presents as elevated P3 peak on HPLC while thalassemia is detected by the presence of eluted proteins at the retention time between 0 and 1 minutes. P3 peak up to 6% is considered normal, values 6%-12% indicates suboptimal specimen and values greater than 15% indicates Hb J. Conclusion: Variants of hemoglobin including HbJ variant is detected using HPLC technique. Mostly clinically silent, if HbJ is associated with anemia, search for a concomitant cause should be sought one of them being alpha thalassemia when iron deficiency has been ruled out by a serum iron profile.

Endothelium, Platelets, and Coagulation Factors as the Three Vital Components for Diagnosing Bleeding Disorders: A Simplified Perspective with Clinical Relevance.

Bleeding disorders are a major group of hematological disorders, which are highly prevalent in the world. Excessive bleeding can result in serious consequences including hypoperfusion and cardiac arrest. The body has its selfmechanism to control excessive bleeding which is termed hemostasis. Hemostasis is achieved in two major steps, the formation of the primary and secondary hemostatic plugs. Endothelium, platelets, and coagulation factors are three components involved in hemostasis. Endothelium and platelets have a major role in forming the primary hemostatic plug. Consequently, the first step in investigating a bleeding disorder is platelet count. Despite normal platelet count, abnormality in the primary hemostatic plug may arise due to functional defects of the platelets including adhesion, activation, and aggregation. Von Willebrand disease (VWD) is an endothelial defect and the most prevalent inherited defect in coagulation. Abnormalities in the secondary hemostatic plug are largely due to coagulation factor deficiencies, and, to a lesser extent, the presence of inhibitors. Techniques involving viscoelastics have been aiding in rapid diagnosis and are useful in point-of-care testing. This article discusses the investigation of bleeding disorders from the perspective of the endothelium, platelet, and coagulation factor physiology. These three components should be properly investigated to achieve the definitive diagnosis of bleeding disorders.

Ataxia due to vitamin E deficiency: A case report and updated review.

Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal-recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory loss. The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E supplementation improves symptoms and prevents the progression of the disease. In this case report, we reviewed the recently updated findings in AVED in regard to the management and present a case of AVED in a 16-year-old boy, who was initially misdiagnosed as FRDA, prior to the genetic test.

Lyonia ovalifolia (Angeri) poisoning: A case report.

Lyonia ovalifolia (angeri) is a deciduous tree whose shoot and leaves are toxic. Its chemical constituents include grayanane diterpenoids, lyoniol A, and other toxic compounds. Young children might consume it intentionally or unintentionally, with subsequent adverse health outcomes and even mortality depending on the amount ingested. We present a case of an adolescent girl who developed poisoning on ingestion of angeri leaves.

Central Venous Catheter-related Thrombosis in a Dialysis Patient: A Case Report.

Hemodialysis is one of the treatment modalities for advanced kidney disease and can help an individual live an active life despite failing kidneys. Although it improves the quality of life, it is not completely risk-free. It has several complications, among which, thrombus formation is common. We report a case of a 63-year-old man who presented at our institution for regular hemodialysis with recurrent arteriovenous graft failure. Because doppler ultrasound is a non-invasive procedure that can identify a thrombus in a vein, it is the best initial option for patients with internal jugular vein thrombosis. The use of ultrasound not only can guide a catheter pathway but can also help in early diagnosis and prevent complications following catheterization in a vein with a thrombus. Keywords: central venous catheterization; chronic kidney disease; hemodialysis; thrombus.

May Measurement Month 2019: an analysis of blood pressure screening results from Nepal.

May Measurement Month (MMM) is a global initiative to screen high blood pressure (BP) in the community and increase awareness at the population level. High BP is the leading risk factor for mortality worldwide and in Nepal. This study presents the results of the 2019 MMM in Nepal. Opportunistic BP screening was conducted in 30 out of 77 districts across Nepal and aged ≥18 years at the community and public places. BP was measured three times in a seated position. A total of 74 205 individuals participated in the study, mean age 39.9 years, and 58% were male. BP measurements for the second and third readings were available for 69 292 (93.3%) individuals. The proportion of the population that were hypertensive was 27.5% (n = 20 429). Among those hypertensives, 46.3% were aware of their hypertensive status and of these, 37.5% were on antihypertensive medication. Only 54.3% of those on antihypertensive medication had their BP controlled. Of the community screened, those self reporting to have diabetes, current tobacco users, and current alcohol drinkers were 6.7%, 23.6%, and 31.9%, respectively; 20.6% of the participants were overweight, and 6.5% were obese. Since the first BP screening campaign, MMM 2017 in Nepal, the number of participants screened has largely increased over the years. MMM's success in Nepal is through a coordinated mobilization of trained health science students and volunteers in the communities. The Nepal MMM data demonstrates that large community-based BP screening campaigns are possible in low resource settings.

Health System Capacity and Access Barriers to Diagnosis and Treatment of CVD and Diabetes in Nepal.

Background: Universal access to essential medicines and routine diagnostics is required to combat the growing burden of cardiovascular disease (CVD) and diabetes. Evaluating health systems and various access dimensions availability, affordability, accessibility, acceptability, and quality is crucial yet rarely performed, especially in low- and middle-income countries. Objective: To evaluate health system capacity and barriers in accessing diagnostics and essential medicines for CVD and diabetes in Nepal. Methods: We conducted a WHO/HAI nationally-representative survey in 45 health-facilities (public-sector: 11; private-sector: 34) in Nepal to collect availability and price data for 21 essential medicines for treating CVD and diabetes, during MayJuly 2017. Data for 13 routine diagnostics was obtained in 12 health facilities. Medicines were considered unaffordable if the lowest paid worker spends >1 days wage to purchase a monthly supply. To evaluate accessibility, we conducted facility exit interviews among 636 CVD patients. Accessibility (e.g., private-public health facility mix, travel to hospital/pharmacy) and acceptability (i.e. Nepals adoption of WHO Essential Medicine List, and patient medication adherence) were summarized using descriptive statistics, and we conducted a systematic review of relevant literature. We did not evaluate medicine quality. Results: We found that mean availability of generic medicines is low (<50%) in both public and private sectors, and less than one-third medicines met WHOs availability target (80%). Mean (SD) availability of diagnostics was 73.1% (26.8%). Essential medicines appear locally unaffordable. On average, the lowest-paid worker would spend 1.03 (public-sector) and 1.26 (private-sector) days wages to purchase a monthly supply. For a person undergoing CVD secondary preventive-interventions in the private sector, the associated expenditure would be 7.511.2% of monthly household income. Exit-interviews suggest that a long/expensive commute to health-facilities and poor medicine affordability constrain access. Conclusions: This study highlights critical gaps in Nepals health system capacity to offer basic health services to CVD and diabetes patients, owing to low availability, poor affordability and accessibility of essential medicines and diagnostics. Research and policy initiatives are needed to ensure uninterrupted supply of affordable essential medicines and diagnostics.