Hereditary spherocytosis in a young female in Eastern Nepal: a case report.

Introduction and importance: Hereditary spherocytosis (HS), a rare familial extravascular haemolytic disorder, typically follows an autosomal dominant inheritance pattern with variable expressivity. Despite its classical presentation of anaemia, jaundice, and splenomegaly, HS is infrequently reported among individuals of Asian descent, contributing to its under diagnosis or delayed diagnosis. The primary objective of this case report is to underscore the pivotal role of the osmotic fragility test in diagnosing HS, emphasizing the importance of accurate and timely identification for effective clinical management and improved patient outcomes. Case presentation: The patient, without known prior co-morbidities, presented with recurrent abdominal distension, early satiety, and easy fatigability persisting for 6 years. Physical examination revealed icterus, gnathopathy, left hypochondrium tenderness, and palpable splenomegaly. The osmotic fragility of red cells was significantly elevated. The patient underwent optimization before splenectomy, receiving immunization against encapsulated bacteria. Packed red blood cell transfusions were administered to achieve optimal haemoglobin levels. Follow-up showed symptom relief, significantly improving the patient's quality of life. Clinical discussion: This case underscores the challenges of delayed HS diagnosis, with the patient enduring symptoms for years before seeking appropriate medical attention. Overlooking the simplicity and cost-effectiveness of an osmotic fragility test prolonged the diagnostic journey, emphasizing the impact on overall well-being. Conclusion: HS remains underdiagnosed, especially in our regions. The osmotic fragility test emerges as an economical diagnostic tool in resource-limited settings, particularly when spherocytosis is absent in the peripheral blood smears. Its inclusion in diagnostic protocols can expedite accurate HS identification and enhance patient outcomes.

Global Warming and Endocrinology: The Hyderabad Declaration of the South Asian Federation of Endocrine Societies.

Global warming and endocrine disorders are intertwined issues posing significant challenges. Greenhouse gases emanating from human activities drive global warming, leading to temperature rise and altered weather patterns. South Asia has experienced a noticeable temperature surge over the past century. The sizable population residing in the region heightens the susceptibility to the impact of global warming. In addition to affecting agriculture, water resources, and livelihood, environmental changes interfere with endocrine functioning. Resulting lifestyle changes increase the risk of metabolic and endocrine disorders. Individuals with diabetes face heightened vulnerability to extreme weather due to impaired thermoregulation. A high ambient temperature predisposes to heat-related illnesses, infertility, and nephropathy. Additionally, essential endocrine drugs and medical devices are susceptible to temperature fluctuations. The South Asian Federation of Endocrine Societies (SAFES) calls for collaboration among stakeholders to combat climate change and promote healthy living. Comprehensive approaches, including the establishment of sustainable food systems, promotion of physical activity, and raising awareness about environmental impacts, are imperative. SAFES recommends strategies such as prioritizing plant-based diets, reducing meat consumption, optimizing medical device usage, and enhancing accessibility to endocrine care. Raising awareness and educating caregivers and people living with diabetes on necessary precautions during extreme weather conditions are paramount. The heat sensitivity of insulin, blood glucose monitoring devices, and insulin pumps necessitates proper storage and consideration of environmental conditions for optimal efficacy. The inter-connectedness of global warming and endocrine disorders underscores the necessity of international collaboration guided by national endocrine societies. SAFES urges all stakeholders to actively implement sustainable practices to improve endocrine health in the face of climate change.

The Retinal Nerve Fiber Layer and Macular Thickness in Patients with Type 2 Diabetes Mellitus without Retinopathy Using Optical Coherence Tomography: A Comparative Study.

INTRODUCTION: Diabetes leads to an alteration in retinal nerve fiber layer (RNFL) thickness and macular thickness which can easily be detected with optical coherence tomography (OCT). OBJECTIVES: This study was done to compare the RNFL and macular thickness between diabetic patients without retinopathy and non-diabetic patients so that it would be useful in the early detection of retinal changes if present. The correlation between the RNFL and macular thickness with metabolic blood parameters of diabetic subjects was also studied. MATERIALS AND METHODS: This is an observational, cross-sectional, hospital-based study including 120 subjects who were further divided into two groups. Group A consisted of 60 diabetic patients without retinopathy and group B consisted of 60 non-diabetic patients. The blood parameters were recorded and the RNFL thickness and macular thickness were compared between the two groups after evaluation by OCT. RESULTS: The average central macular thickness was found to be more in group A but was statistically insignificant (p=0.29). Macular thickness in the superior quadrant was significantly higher among group A when compared with group B (p=0.01). Whereas RNFL thickness difference between the two groups was statistically insignificant (p=0.53). Blood urea showed significant positive correlation (r=0.269) with central macular thickness (p=0.03). CONCLUSION: Our study showed that diabetic patients without retinopathy could have increased macular thickness in the superior quadrant when compared with normal people whereas RNFL thickness may not alter. The blood urea levels of the diabetic patients can provide us clues regarding possible retinal changes.

Pulmonary Paragonimiasis: A Case Series.

Paragonimiasis contributes to significant foodborne zoonosis worldwide. The major mode of transmission in humans is by consumption of uncooked or undercooked crabs and crayfish harbouring Paragonimus metacercariae. It begins with symptoms like fever and lower respiratory involvement from a few months to a year, mimicking those of tuberculosis and leading to diagnostic delay. Here, we report two cases of paragonimiasis during a period of nine months. Both cases presented with symptoms of productive cough with rusty sputum, chest pain, along with eosinophilia, and pleural effusion and had a history of consumption of smoked crab from the local river. The diagnosis was established by microscopic demonstration of Paragonimus ova in the sputum. They were treated with praziquantel and recovered. Indeed, it is challenging to diagnose paragonimiasis due to the lack of its specific symptoms but should be considered in the differential diagnosis of eosinophilia and pleural effusion in such lung diseases. Keywords: case reports; eosinophilia; paragonimiasis; pleural effusion.

Autoimmune Thyroid Disease in Patients with Hypovitaminosis D in Department of Biochemistry of a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Autoimmune thyroid disease is characterised by the generation of autoantibodies against self-antigens such as thyroid peroxidase, thyroglobulin, and thyroid-stimulating hormone receptor. Recent studies have implicated the role of hypovitaminosis D to immune dysfunction, failure of self-tolerance and generation of autoantibodies. This study aimed to find out the prevalence of autoimmune thyroid disease among hypovitaminosis D patients in a tertiary care centre. Methods: A descriptive cross-sectional study was conducted among participants between the ages of 18 years to 65 years who visited the Department of Biochemistry of a tertiary care centre between the periods of July 2018 to December 2019. The study was initiated after receiving ethical approval from the Institutional Review Committee (Reference number: 42,8/074/075-IRC). Data was collected using a self-administered questionnaire followed by anthropometric measurement and blood collection. Thyroid hormone, thyroid peroxidase antibody and 25-hydroxy vitamin D were measured by chemiluminescence technique. Convenience sampling was used. Point estimate and 95% Confidence Interval were calculated. Results: Among 83 patients, 39 (46.98%) (42.32-51.63, 95% Confidence Interval) had autoimmune thyroid disease. Conclusions: The prevalence of autoimmune thyroid disease among patients with hypovitaminosis D was similar to studies conducted in comparable settings. Keywords: autoimmune diseases; prevalence; thyroid; vitamin D.

Study of diagnostic utility of Xpert MTB/Rif test on pleural fluid in the evaluation of patients presenting with Pleural Tuberculosis in Nepal.

Introduction: Existing tests for the diagnosis of pleural tuberculosis (TB) have major limitations in terms of accuracy, time to diagnosis and drug resistance testing. A test which can diagnose pleural TB and detect resistance, like Xpert MTB/Rif, would be optimal for rapid diagnosis and treatment. Methods: A prospective observational study was done in a tertiary care hospital in Eastern Nepal. Fifty-one patients with clinic-radiologic suspicion of pleural TB were included. The results of pleural fluid Xpert MTB/Rif were compared with two Composite Reference Standards. Composite Reference Standard-1 consisted of positive pleural fluid smear, positive culture, positive histology of pleural biopsy, and positive sputum results. Composite Reference Standard-2 included those with Composite Reference Standard-1 and those with high ADA values (>40 U/l) with response to anti-tubercular treatment at 8 weeks of follow-up. Results: Thirty-six patients were diagnosed as Pleural TB. Nine fulfilled Composite Reference Standard-1. Pleural fluid Xpert MTB/Rif was positive in five cases with Composite Reference Standard-1 and nine cases with Composite Reference Standard-2. The sensitivity, specificity, positive predictive value and negative predictive value with reference to Composite Reference Standard-1 were 55.56%, 88.10%, 50%, and 90.24%, respectively. Using Composite Reference Standard-2 as reference, sensitivity, specificity, positive predictive value and negative predictive value were 25%, 93.33%, 90%, and 34.15%, respectively. Two cases were diagnosed Xpert Rif resistant on pleural fluid. Conclusion: Due to low sensitivity, the Xpert MTB/Rif test cannot be recommended as initial test of diagnosis in a high prevalence setting. At the same time its clinical utility lies in testing of patients suspected to have drug-resistant pleural tuberculosis.

Asian Best Practices for Care of Diabetes in Elderly (ABCDE).

The elderly population with diabetes is diverse with the majority experiencing a decline in physical and mental capabilities, impacting the entire diabetes management process. Therefore, a need for geriatric-specific guidelines, especially for the Asian population, was identified and subsequently developed by an expert panel across government and private institutions from several Asian countries. The panel considered clinical evidence (landmark trials, position papers, expert opinions), recommendations from several important societies along with their decades of clinical experience and expertise, while meticulously devising thorough geriatric-specific tailored management strategies. The creation of the ABCDE best practices document underscores and explores the gaps and challenges and determines optimal methods for diabetes management of the elderly population in the Asian region.

Diagnostic Accuracy of Serum Cystatin C for Early Recognition of Nephropathy in Type 2 Diabetes Mellitus.

OBJECTIVES: Diabetic nephropathy is one of the major complications that develop over time in type 2 diabetes mellitus (T2DM). This prospective study was conducted to assess the diagnostic accuracy of serum cystatin C in detecting diabetic nephropathy at earlier stages. MATERIALS AND METHODS: This study was undertaken on 50 cases of T2DM and 50 healthy subjects as controls. Demographic and anthropometric data and blood and urine samples were collected. The concentration of serum cystatin C (index test) and traditional markers of diabetic nephropathy, serum creatinine, and urinary microalbumin (the reference standard) were estimated. Similarly, blood glucose, glycated haemoglobin (HbA1c), triglycerides, total cholesterol, high-density lipoprotein (HDL) cholesterol, and urinary creatine were measured. RESULTS: The mean ± SD serum cystatin C was significantly higher in T2DM as compared to control (1.07 ± 0.38 and 0.86 ± 0.12 mg/dl, respectively, p < 0.001). The mean ± SD bodyweight, BMI, W : H ratio, pulse, SBP, and DBP were 66.4 ± 12.6 kg, 26.2 ± 5.6 kg/m2, 1.03 ± 0.09, 78 ± 7, 125 ± 16 mm of Hg, and 77 ± 9 mm of Hg, respectively, in cases. A significant difference in HDL cholesterol (p=0.018) and serum cystatin C (p < 0.001) was observed among different grades of nephropathy. Cystatin C had a significant positive correlation with age (r = 0.323, p=0.022), duration of T2DM (r = 0.326, p=0.021), and UACR (r = 0.528, p < 0.001) and a significant negative correlation with eGFR CKD-EPI cystatin C (r = -0.925, p < 0.001). The area under ROC curve for serum cystatin C (0.611, 95% CI: 0.450-0.772) was greater than for serum creatinine (0.429, 95% CI: 0.265-0.593) though nonsignificant. CONCLUSION: Serum cystatin C concentration increases with the progression of nephropathy and duration of diabetes in Nepalese T2DM patients suggesting cystatin C as a potential marker of renal impairment in T2DM patients.

Assessment of Achievement of American Diabetes Association (ADA) Targets in Patients with Type 2 Diabetes Mellitus at a Tertiary Care Centre in Eastern Nepal.

BACKGROUND: Management of type 2 diabetes is not limited to blood glucose control, it also addresses blood pressure and lipid levels in order to prevent associated vascular complications and improve the chances of survival and quality-of-life. Although the American Diabetes Association (ADA) has lain specific target levels for glycated hemoglobin, blood pressure and serum low density cholesterol to be achieved by non-pregnant patients with type 2 diabetes mellitus, these are not being achieved in practice. We took on this study to describe the extent of ADA target achievement at our center. METHODS: We analyzed data of type 2 diabetes patients who attended the endocrinology clinic at our hospital within the past 1 year from the start of the study. Data of the pregnant women and patients with mentions of conditions that might interfere with measurement of HbA1c were excluded. RESULTS: We analyzed 336 records, 45.8% (n=154) males and 54.16% (n=182) females. The mean age of patients was 52.28±11.9 years. The percentages of patients who had HbA1c <7%, blood pressure <140/90 mm of Hg, and LDL-c <100 mg/dL were 56.5%, 72%, and 56.3%, respectively. Only 37.8% of patients were found to have achieved all three ADA targets. Our findings show that a higher percentage of patients who were ≥50 years of age met LDL-c goals as compared to those <50 years of age, 61.9% vs 49% (P<0.05) and that blood pressure control was better among younger age group, 78.9% vs 66.7% (P<0.05). CONCLUSION: Our study highlights that a significant proportion of patients missed on achieving the ADA targets. This is worrisome and further studies should be done to find out possible reasons behind this.

Effect of Hand Held Vibrating Tools on Nerve Conduction Study in Dental Residents.

BACKGROUND: Repetitive exposure to vibration has been shown to induce peripheral nerve dysfunction. Dentists are exposed to handheld vibrating tools in their daily clinical practice. Most of the studies are done in dentists who have symptoms such as paresthesia and numbness of the hands. Thus, we conducted the study to explore the effect of vibration on nerve conduction variables in apparently healthy asymptomatic dental residents. METHODS: This cross-sectional study enrolled 22 dental residents and age matched 22 medical residents as controls. Nerve conduction study was performed in median and ulnar nerves of both hands. RESULTS: Anthropometric and cardiorespiratory variables were comparable between the groups. There were no statistically significant differences between dental and medical residents in the sensory conduction variables (right median onset latency=2.05±0.27 vs 1.91±0.21, p value=0.07; right median amplitude =27.80±8.11 vs 29.55±7.04, p=0.45; right median conduction velocity = 59.54±7.05 vs 61.06±5.15, p= 0.42) and motor conduction variables (right median distal latency = 2.87±0.38 vs 2.87±0.38, p= 0.94; right median distal amplitude=10.71±2.19 vs 11.10±2.37, p=0.58; right median conduction velocity= 70.57±13.16 vs 68.53±7.73, p= 0.54) of median and ulnar nerves. Further, there was no significant difference between the dominant and non-dominant hands of dental residents. CONCLUSIONS: Hand held vibration tools did not alter nerve conduction study parameters of dental residents.

Health Literacy and Knowledge of Chronic Diseases in Nepal.

BACKGROUND: Understanding of risk factors and developing healthy lifestyles is a way of tackling the surging burden of chronic diseases in low-to-middle income countries such as Nepal. Health literacy (HL) has a pivotal role in prevention, adherence to treatment, self-care, and better use of health care; therefore, factors associated with HL need to be studied in the context of Nepal. OBJECTIVE: This study was conducted to assess the level of HL and explore disease-specific knowledge among patients with chronic diseases. METHODS: A cross-sectional study was conducted among 426 respondents with hypertension, diabetes mellitus, or chronic obstructive pulmonary disease from a tertiary care hospital and primary care clinics using face-to-face interviews. HL was measured using a translated and pretested HL questionnaire (the Europe-Asia Health Literacy Survey Questionnaire). Disease-related knowledge was assessed using a validated questionnaire. KEY RESULTS: The study found that 27% of the respondents had sufficient HL, 19% had marginal HL, and 54% had inadequate HL. Factors associated with inadequate HL included being older and female, and having lower or no education, unemployment or retired status, poverty, and having a history of smoking or a history of consuming alcohol. HL was a strong predictor of knowledge regarding hypertension (ß = 0.32; p < .05), diabetes mellitus (ß = 0.41; p < .05), and chronic obstructive pulmonary disease (ß = 0.37; p < .05) in multiple regression analyses after adjusting for age, gender, education, marriage, family history of disease, attendance at follow-up clinics at recommended intervals, information received regarding disease at clinics, smoking, and alcohol intake. CONCLUSIONS: A sufficient level of HL was uncommon among participants in our study. People with sufficient HL knew significantly more about their diseases or conditions than those with inadequate HL. [HLRP: Health Literacy Research and Practice. 2018;2(4):e221-e230.]. PLAIN LANGUAGE SUMMARY: Very little is known about health literacy in Nepal. We conducted a study to learn how much people in Nepal with hypertension, diabetes, or chronic obstructive pulmonary disease knew about their condition and sought to check its association with health literacy. We found that more than one-half of the participants did not have adequate health literacy levels. Participants who were older, female, uneducated, retired from work, or poor had lower levels of health literacy. We also found that those with high levels of health literacy had better knowledge of their disease. Therefore, we recommend that in Nepal health literacy should be measured for each patient and support regarding management of his or her condition should be provided if necessary.

The Bhubaneswar Declaration on Sports Endocrinology, 2018.

Sports and endocrinology are complex interrelated disciplines. Sports and exercise modulate endocrine and metabolic health, and are used to prevent and manage disease. Endocrine and metabolic function influence participation and performance in sports activity. The Bhubaneswar Declaration, released on the occasion of the Endocrine Society of India Conference, resolves to promote the science of sports endocrinology. The authors commit to optimize endocrine health in sports persons, encourage safe use of sports to promote health, and prevent misuse of endocrine interventions in sports.

Nerve Conduction and Heart Rate variability in Patients with Hypothyroidism at a Tertiary Care Centre in Eastern Nepal.

INTRODUCTION: Thyroid hormone effects on many organs including central and peripheral nervous systems. However, these hormones do not affect all systems/organs to a similar extent. Thus, we conducted this study to explore the effect of thyroid hormones on somatic nervous system assessed by Nerve conduction study and cardiac autonomic activity assessed by heart rate variability. METHODS: The study included newly diagnosed hypothyroid patients and healthy controls. In all subjects NCS were performed in median, ulnar, tibial and sural nerves using Nihonkohden machine Cardiac autonomic control was assessed using Short-term Heart Rate Variability and parameters were analyzed by Time Domain and Frequency Domain methods. RESULTS: Both the groups were comparable in term of age, Body Mass Index, Pulse Rate, Systolic Blood Pressure and Diastolic Blood Pressure. Sensory parameters of NCS showed significant decrease in left median nerve SNAP amplitude (38.24±10.23 Vs 31.59±14.06, P=0.048) and nerve conduction velocity of bilateral median nerve in hypothyroid patients. In motor parameters of NCS, onset latencies of bilateral median nerves and right ulnar nerve were significantly increased in hypothyroid patients. All Time Domain measures of HRV and Frequency Domain measures; LF Power, HF Power and Total Power were significantly decreased (P<0.05) in hypothyroid patients. These HRV parameters are indicators of parasympathetic activity. CONCLUSIONS: In newly diagnosed hypothyroid patients, especially median nerve functions (both sensory and motor) and parasympathetic activity were decreased. It reflects that in hypothyroidism both autonomic nervous system and other somatic nerves are not affected in a similar extent.

Hypothyroidism in diabetes mellitus patients in Eastern Nepal.

CONTEXT: The coexistence of diabetes mellitus (DM) with hypothyroidism is a known clinical observation. AIMS: To estimate prevalence and co-relate that of hypothyroidism in patients with DM in relation to the age and sex, the lipid profile, body mass index visiting diabetes clinic and inpatients in B. P. Koirala Institute of Health Sciences. SETTINGS AND DESIGN: The hospital-based descriptive study. MATERIALS AND METHODS: Two hundred and seventy-one known or newly detected cases of DM aged more than 15 years were selected randomly from September 2012 to September 2013 and subjected to evaluation for thyroid function - clinically and biochemically and other relevant investigations were done. STATISTICAL ANALYSIS USED: For descriptive statistics mean, standard deviation, percentage, proportion were calculated. For inferential statistics following test were carried out at the level of significant 0.05 where confidence interval is 95%. The statistical operations were done through Statistical Package for the Social Sciences version 10. RESULTS: Of 271 subjects, the prevalence of hypothyroidism (clinical and subclinical) in diabetics was, 4.05% (11/271) with females preponderance, of which 7 (30.4%) were clinically hypothyroid and 4 (17.4%) were subclinical hypothyroid. One (4.3%) patient had subclinical hyperthyroidism. The mean age at diagnosis of type 2 DM was 51-60 years. 8.69% of diabetics with primary hypothyroids were having morbid obesity. High-density lipoprotein among different thyroid status were statistically significant (P = 0.042). CONCLUSIONS: Hypothyroidism is not uncommon in diabetes, and we found body mass index, mean triglyceride and cholesterol levels were more in those diabetic patients having coexisting hypothyroidism.

Clinical profile of diabetic ketoacidosis in tertiary care hospital of Eastern Nepal.

INTRODUCTION: Diabetes ketoacidoisis (DKA) is characterized by hyperketonaemia, metabolic acidosis, and hyperglycemia. AIMS: The aim of this study was to describe the demographic profile, clinical characterstics of patients admitted with diabetic ketoacidosis in BPKIHS, medical ward. SETTINGS AND DESIGN: The hospital based descriptive study. MATERIALS AND METHODS: We took all the patients admitted with a diagnosis of diabetic ketoacidosis (DKA) as defined ADA 2006 consensus statement in medical ward from January 2010 to December 2010. The statistical operations was done through Manufactured by IBM Corp. RESULTS: Only sixteen patients (7 type 1 and 9 type 2DM) were with DKA. When compared to the 16 subjects with type 1 DM, the type 2 were older (56.8 s 25.7 years) and had a significantly higher PH levels (7.11 s 7.28 P = 0.04). The mean body mass index was 20.5±2.44 in both Type 1 and type 2 DM. Four were on diet control and Insulin respectively. Five were on oral hypoglycemic agents (OHA) and three on both (insulin and OHA). Infection was most common precipitating factor (56.25%) followed by poor drug compliance (37.5%) and first presentation (6.25%). CONCLUSIONS: We found majority of patients were type 2 DM. Metabolic acidosis has significant association in both type of diabetic. We found infection was the most common precipitating factor for DKA.

Primary hyperparathyroidism in India: A cocktail of contemporary and classical presentations: Lesson from 47 cases.

Primary hyperparathyroidism (PHPT) is now the contemporary form of previously existing classical disease, which is increasingly diagnosed due to hypercalcemia with asymptomatic form predominant in developed countries, whereas symptomatic form predominant in developing countries. So, we highlighted important subtle features of PHPT, problems in diagnosis in day to day practice in patients with PHPT at our center.

A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia.

Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing's syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia.

Comparison of complications in diabetic outpatients with or without mental illness.

Diabetes Mellitus (DM) and psychiatric illness are related in many ways by prevalence, burden, course, and outcome. Co-morbid mental illness may play a role in determining the complication in diabetic patients. This study was conducted in 2010 among consecutive diabetic out-patients diagnosed as per American Diabetes Association (ADA) guidelines 2009, of age above 14 years, to compare the complications in diabetic patients with or without mental illness. Diabetic neuropathies, cardiovascular complications, and morbid obesity were among the complications significantly more among diabetic patients with mental illness (GHQ-12 ≥ 2) than without mental illness (GHQ-12 ≤ 2).