Antidiuretic hormone deficiency secondary to inactive hydrocephalus: a case report.

BACKGROUND: Diabetes insipidus is a syndrome characterized by polyuria, which is almost always associated with polydipsia. The most frequent cause is central diabetes insipidus, which is the result of an inadequate secretion of the antidiuretic hormone, and diagnosis involves differentiating it from other causes of polyuria and polydipsia. CASE PRESENTATION: Here, we present a clinical case of a previously healthy 13-year-old Nepali boy, who, in December 2022, was found to have intense polydipsia accompanied by polyuria. He had bilateral lower limb weakness at the time of presentation. Biochemical evaluation demonstrated raised serum sodium (181 mEq/L), serum creatinine (78 µmol/L), and serum uric acid (560 µmol/L) with suppressed serum potassium (2.7 mEq/L), which was the major concern to the clinicians. Further laboratory workup revealed an increased serum osmolarity (393.6 mOsm/kg) with reduced urine osmolarity (222.7 mOsm/kg). On contrast magnetic resonance imaging of the brain, a thick-walled third ventricular cyst with bilateral foramen obstruction, thin membrane-like structure at top of aqueduct of Sylvius with gross obstructive hydrocephalus (inactive), and compressed and thinned pituitary gland with no bright spot was observed. The laboratory findings, radiological findings, and case presentation provided the provisional diagnosis of diabetes insipidus due to hydrocephalus and third ventricular cyst. CONCLUSIONS: Central diabetes insipidus due to hydrocephalus, though rare, can have serious complications including the predilection to develop a deficit of other pituitary hormones. Thus, even if hydrocephalus is dormant with normal intracranial pressure, it must be addressed during investigations of central diabetes insipidus.

High Serum Homocysteine among Women with Polycystic Ovarian Syndrome Visiting an Infertility Clinic of a Tertiary Care Centre.

Introduction: Polycystic ovary syndrome is a common hormonal disorder that affects women of reproductive age which is characterized by hyperandrogenism, polycystic ovarian morphology, ovarian dysfunction, and hyperinsulinemia. Increased prevalence of cardiovascular disease and higher cardiovascular morbidity is seen in women with polycystic ovary syndrome. This study aimed to estimate the prevalence of high serum homocysteine levels among women with polycystic ovarian syndrome visiting an infertility clinic of a tertiary care centre. Methods: This was a descriptive cross-sectional study conducted among women with polycystic ovarian syndrome visiting an infertility clinic at the Department of Obstetrics and Gynaecology of a tertiary care centre from 1 June 2023 to 1 September 2023. The study was conducted after obtaining ethical approval from the Institutional Review Committee. Biochemical analysis of gonadal hormones, serum homocysteine and lipid profile was done. A convenience sampling method was used. The point estimate was calculated at a 95% confidence interval. Results: Among 76 women, the prevalence of high serum homocysteine level was found in 54 (71.05%) (60.86-81.25, 95% Confidence Interval). The mean age of patients was 27.46±6.18 years. Conclusions: The prevalence of high homocysteine levels among women with polycystic ovarian syndrome is higher than other studies done in similar settings. Keywords: body mass index; homocysteine; polycystic ovary syndrome; prevalence.

Association of Low Vitamin D and Intact Parathyroid Hormone (iPTH) in Nepalese Population: When Does iPTH Exactly Rise?

Vitamin D deficiency is a global public health concern that provokes bone demineralization and weakening. In response to the decreased vitamin D level, calcium stores wear out. The homeostatic effect of compensatory hyperparathyroidism in vitamin D deficiency incites variable discrepancies in different populations. This study intends to decipher the transition point of PTH in relation to levels of vitamin D in a Nepalese population. A cross-sectional study was carried out at Tribhuvan University Teaching Hospital, Nepal. Serum calcium, phosphorus, intact PTH, and 25-hydroxy vitamin D levels were assayed in an Abbott ARCHITECT Integrated System. A correlation plot of PTH and vitamin D was analyzed in Statistical Package for Social Sciences version 22.0. Using a locally weighted scatter plot smoothing method, the relation between these variables was presented graphically. Among 281 individuals, 30.2% had vitamin D levels below 20 ng/mL. There was an archetypical transition in the PTH levels in concert with the decrease in vitamin D level marked by 2 inflection points (ie, 18.5 and 42.0 ng/mL). Our findings suggest that to augment overall health and avert weakness due to vitamin D deficiency, the levels of vitamin D should be maintained above 42.0 ng/mL in our population.

Gemykibivirus detection in acute encephalitis patients from Nepal.

Acute Encephalitis Syndrome (AES) causes significant morbidity and mortality worldwide. In Nepal, Japanese encephalitis virus (JEV) accounts for ~ 5-20% of AES cases, but ~75% of AES cases are of unknown etiology. We identified a gemykibivirus in CSF collected in 2020 from a male child with AES using metagenomic next-generation sequencing. Gemykibiviruses are single stranded, circular DNA viruses in the family Genomoviridae. The complete genome of 2211 nucleotides was sequenced which shared 98.69% nucleotide identity to its closest relative, Human associated gemykibivirus 2 isolate SAfia-449D. Two real-time PCR assays were designed, and screening of 337 CSF and 164 serum samples from AES patients in Nepal collected in 2020 and 2022 yielded 11 CSF and 1 serum sample that were positive in both PCR assays. Complete genomes of 7 of the positives were sequenced. These results identify a candidate etiologic agent of encephalitis in Nepal.

Effect of ABCA1-R219K Polymorphism in Serum Lipid Parameters in Patients under Statin Therapy Visiting Tertiary Cardiac Center of Nepal.

Introduction ATP-binding cassette transporter A1 (ABCA1) encoded by ABCA1 gene is one of the important protein involved in lipid metabolism. The effect of statin therapy on dyslipidemia varies among individuals and it may be due to different genetic polymorphism. The R219K polymorphism of ABCA1 gene is found to have a significant role in the response of statin. Objective This study was designed to evaluate the effect of R219K polymorphism in lipid-lowering action of statin in patients with dyslipidemia. Material and Methods This study was conducted in 88 patients. Blood samples were taken from patients before and at the end of 3 months of statin use and were analyzed for lipid profile. Whole blood was analyzed for R219K Polymorphism using polymerase chain reaction-restriction fragment length polymorphism. Results R219K polymorphism was associated with significant percentage reduction of serum triglyceride/high-density lipoprotein (TG/HDL) ratio and total cholesterol/high-density lipoprotein (TC/HDL) ratio in atorvastatin users. However, there was no significant association of polymorphism with change in serum TC, HDL-C, LDL-C, TG, and very low-density lipoprotein (VLDL). Among KK genotype individuals, value of TG, VLDL, TG/HDL, and TC/HDL were significantly lower than in RR genotypes. Also, TG/HDL and TC/HDL were significantly lower in RK genotype than in RR. Treatment of dyslipidemia with statin was found to be comparatively better in patients having the genotypes KK and RK. Conclusion Our study demonstrated association of R219K polymorphism with the significant reduction of TG/HDL and TC/HDL and particularly the KK genotype was associated with significant improvement of lipid parameters following atorvastatin treatment.

Autoimmune thyroid status in subclinical thyroid disorders in patients attending a tertiary care center in Nepal: a hospital-based cross-sectional study.

BACKGROUND: Thyroid dysfunction is the leading endocrine disorder worldwide. Iodine deficiency disorders, which were once the major etiology of thyroid dysfunctions, now have been succeeded by autoimmune thyroid diseases with the rise in aberrant salt ionization protocols. This study endeavors to access the level of thyroid autoantibodies viz. anti-thyroid peroxidase (anti-TPO), anti-thyroglobulin (TGA), and anti-thyroid stimulating hormone receptor (TRAb) in individuals with subnormal thyroid profiles. METHODS: This hospital-based cross-sectional study was conducted at the Department of Clinical Biochemistry, Tribhuvan University for a period of six months. Using non-probability (purposive) sampling method, a total of 60 patients were enrolled with subnormal thyroid profiles to include the population who have not yet started medication. Thyroid hormones (free T3, free T4, TSH) and thyroid antibodies (anti-TPO, TGA, and TRAb) were measured. For non-parametric data, Chi-square test and Kruskal-Wallis test were used. Spearman's correlation was done to determine the association between variables. RESULTS: Out of 60 participants, the majority of the population between 25 and 44 years were diagnosed with thyroid dysfunction with female preponderance. Among all, 40% (n = 24) had subclinical hyperthyroid states while, 60% (n = 36) had subclinical hypothyroid states, and 75% (n = 45) of the total exhibited positive thyroid antibodies. In subclinical hypothyroid patients with TSH above 10 µIU/ml, anti TPO (58.5%) and TGA (66.7%) positivity were highly prevalent. On the other hand, TRAb was exclusively positive in hyperthyroid condition (50% among the group) which is by far the first of its kind reported in Nepal. CONCLUSION: The rise in autoimmune thyroid disease among the Nepalese population infers that addressing iodine deficiency simply through salt iodinization may not be adequate to deal with the rising burden of thyroid disorders, especially in iodine-depleted areas. Also, the increasing prevalence of thyroid autoantibodies positivity in subclinical hypothyroidism in the Nepalese population accounts for the arduous screening and monitoring of autoimmune thyroid disorders in Nepal.

Biochemical spectrum of parathyroid hormone disorders in patients attending Tribhuvan University Teaching Hospital, Kathmandu, Nepal.

Objectives: This study intends to determine the association of parathormone with vitamin D and other biochemical parameters (calcium and phosphate) and evaluate the relationship between low vitamin D and parathormone levels. Methods: A hospital-based cross-sectional study was conducted among 310 study participants over the period of 1 year. Patients who underwent laboratory investigations for vitamin D, parathormone, calcium, and phosphate in the Clinical Biochemistry Laboratory at the Institute of Medicine, Tribhuvan University Teaching Hospital were included. Serum intact parathyroid hormone, vitamin D, calcium, and phosphate were measured in Abbott Architect (ci4100) integrated system autoanalyzer. Results: Among the 310 study participants, 177 (57%) were males and 43% were females. The mean age of the patient was 47.09 ± 19.01 years. High intact parathyroid hormone (>68 pg/ml) was observed in 73% of the patients. Low vitamin D (<20 ng/ml) was present in 30.2% of the patients. The findings from our study depict that there is a negative significant correlation between intact parathyroid hormone levels, vitamin D, and calcium levels and a positive correlation between intact parathyroid hormone and phosphate levels (p < 0.001). Conclusions: The findings from our study illustrate that there is a swapping drift in the profile of hyperparathyroidism in the Nepalese population. We report the presence of hyperparathyroidism in the middle age group than in the older age group contradictory to that reported in the literature.

Metabolic and biochemical profile in women with polycystic ovarian syndrome attending tertiary care centre of central NEPAL.

BACKGROUND: Polycystic Ovarian Syndrome (PCOS) is a common endocrinopathy in women of reproductive age group and is highly associated with an increased risk of diabetes, hypertension, cardiovascular disease, and hyper estrogen-related malignancies in women with PCOS. This study was intended to assess the metabolic and hormonal profile of the patients with polycystic ovarian syndrome attending a tertiary care hospital. METHODOLOGY: A descriptive cross-sectional study was conducted among 107 women diagnosed with polycystic ovarian syndrome from the Department of Clinical Biochemistry of Tribhuvan University and Teaching Hospital. Descriptive analysis was performed to determine the socio-demographic characteristics of the participants. Bivariate analysis was conducted to determine using a t-test for comparing means between two groups and ANOVA for comparing the hormonal and metabolic parameters. RESULTS: The mean age of the participants was 27 ± 4 years. This study showed that blood pressure was significantly higher in overweight and obese women (p = 0.001). The obese group had significantly higher serum TSH than the normal group (10.04 vs. 2.73, p = 0.001). Abnormal glucose and hyperinsulinemia were present in 4% of the patients, while 40% had Vitamin D deficiency. Hypothyroidism (TSH ≥ 4.5 mIU/ml) was found in 11% of the PCOS participants with a mean value of 6.65 ± 21.17 mIU/ml. Hyperprolactinemia ≥ 26.8 ng/ml was depicted in 21% of the study population with a mean value of 37.25 ± 21.86 ng/ml. CONCLUSION: Our study demonstrated that PCOS is most commonly prevalent in young women of the reproductive age group which can lead to reproductive, metabolic, and oncological complications in the long term. LH/ FSH ratio was found to be significantly deranged indicating that PCOS should be diagnosed and treated early in the adolescent age group.

Positive Thyroid Peroxidase Antibody among Women with Polycystic Ovarian Syndrome Visiting an Infertility Clinic at a Tertiary Care Centre.

Introduction: Polycystic ovarian syndrome is the most common endocrine-metabolic disorder, affecting women of reproductive age groups, which shares various symptoms with thyroid dysfunctions. Despite it predisposition of aforesaid cohorts to autoimmunity, these etiologies have not adequately been studied in them. This study aimed to find out the prevalence of positive thyroid peroxidase antibodies among women with polycystic ovarian syndrome visiting an infertility clinic at a tertiary care centre. Methods: This was a cross-sectional study conducted at a tertiary care centre among patients visiting the infertility clinic at the Department of Obstetrics and Gynaecology from 21 September 2022 to 21 February 2023. Biochemical analysis of thyroid hormones, gonadal hormones, anti-mullerian hormone and thyroid peroxidase antibody were done in Abbott ARCHITECT ci4100 and SNIBE Maglumi 800 autoanalyzer. A convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Results: Among 70 participants, thyroid peroxidase antibody was positive in 16 (22.86%) (13.02-32.69, 95% Confidence Interval). The mean age of the patients was 28.25±5.26 years. In the individuals with thyroid-stimulating hormone below 2.5 mIU/l, 5 (31.25%) had positive thyroid peroxidase antibody titre. Conclusions: The prevalence of positive thyroid peroxidase antibodies among women with polycystic ovarian syndrome is similar to other studies done in similar settings. Regular monitoring of thyroid peroxidase antibodies is recommended in these women to guide conception in order to evade inevitable adverse pregnancy outcomes. Keywords: anti-thyroid autoantibodies; autoimmunity; infertility; prevalence; polycystic ovary syndrome.

Porphyria: a case report.

BACKGROUND: Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group. As its incidence is quite uncommon, conjectures about porphyria diagnosis are often duped into a diagnostic conundrum. CASE PRESENTATION: Here we unravel a case of a 15-year-old Hindu Nepalese girl distraught by the myriad of symptoms in the setting of severe abdominal pain accompanied by constipation and limb pain as the chief complaints. She presented with acute severe hypertension with marked persistent hyponatremia (up to 109 mEq/L). Despite conservative management of hypertension and electrolytes, unresolved electrolyte imbalance led us to the speculation of disturbance in the renin-angiotensin-aldosterone system. Due to her exacerbating neurovisceral status, she also required intensive care during the disease course. After thorough investigations and exemption of presumed provisional diagnoses, based on sustained symptomatic presentation, the clinical suspicion was driven towards a diagnosis of porphyria-related disorders. Positive Watson-Schwartz test substantiated the diagnosis of acute intermittent porphyria. Her symptoms gradually abated after the consumption of high carbohydrate diets. CONCLUSION: This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried in the realm of porphyric disorders. Porphyria can be diagnosed using simple screening tools and timely treatment can diminish serious consequences.

Comparison of Her2/Neu Oncoprotein in Serum and Tissue Samples in Women with Breast Cancer.

BACKGROUND AND OBJECTIVES: Human Epidermal Growth Factor Receptor 2 (HER2/neu) is one of the most extensively studied proto-oncogens in breast cancer patients.  Accurate and timely assessment of the HER2/neu over expression is pivotal for the identification of breast cancer patients that could benefit from HER2-targeted therapy.  The present study was undertaken to investigate the diagnostic utility of serum HER2/neu testing by chemiluminescent immunoassay (CLIA) in breast cancer patients and compare it with the immunohistochemistry (IHC) method of HER2/neu expression. METHODS: Serum sample and tissue/paraffin block was collected from 52 patients with breast cancer before start of any anticancer regimen or hormonal therapy.  The tissue specimens were processed in Histopathology lab. Sections were immunostained with anti -estrogen receptor (ER) , anti -progesteron receptor (PR) and anti HER2/neu receptor  mouse monoclonal antibodies.) Serum HER2/neu was estimated using the chemiluminiscent immunoassay using 15ng/ml as the cut off. RESULTS: Out of 52 patients with breast cancer, serum HER2/neu was found elevated in 25(48.1%) patients and remaining 27(51.9%) showed normal serum HER2/neu concentrations. On IHC HER2/neu score was 3+ in 9(17.3%), 2+ in 10(19.2%), 1+ in 1(1.9%); while 32(61.5%) showed no HER2/neu expression.  31(59.6%) patients were ER positive and 28(53.8%) were PR positive. There was a significant correlation (P<0.001) of serum HER2 concentration with tissue expression of HER2/neu and Histological tumor grade. Serum HER2/neu levels showed a negative correlation with ER status (P=0.047) but no correlation with PR status. CONCLUSION: The result showed that the elevated serum HER2/neu was correlated with the IHC expression of HER2/neu in tissue and the histological grade of the tumor.  Findings suggest that post initial tissue diagnosis (IHC HER2/neu), serum HER2 assay may supplement subsequent tissue tests to monitor disease status and response to therapy.

Mean Serum Creatine Kinase among Organophosphate Poisoning Cases in a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Major cases of poisoning are associated with organophosphates. Cholinergic effects and an intermediate phase seen with organophosphate poisoning may implicate myopathy. Creatine kinase is a marker of muscle tissue damage. This study aimed to find out the mean serum creatine kinase among organophosphate poisoning cases in a tertiary care centre. Methods: A descriptive cross-sectional study was carried out among organophosphate poisoning cases in a tertiary care hospital from 13 October 2017 to 30 March 2018. Ethical approval was taken from the Institutional Review Committee [Reference number: 117(6-11-E) 2/074/075]. Blood samples were assayed for serum acetylcholinesterase in the pharmacology laboratory and for serum creatine kinase and lactate dehydrogenase in the biochemistry laboratory. Low serum acetylcholinesterase was taken as the basis for the establishment of organophosphate poisoning. A convenience sampling technique was used. Point estimate and 95% Confidence Interval were calculated. Results: Among 103 organophosphate poisoning cases, the mean serum creatine kinase was 931.35±446.60 IU/l (845.10-1017.60, 95% Confidence Interval). Conclusions: The mean serum creatine kinase level among organophosphate poisoning cases was higher than in other studies done in similar settings. Keywords: acetylcholinesterase; creatine kinase; organophosphate poisoning; rhabdomyolysis.

Association of high sensitivity C-reactive protein with the components of metabolic syndrome in diabetic and non-diabetic individuals.

BACKGROUND AND OBJECTIVES: High sensitivity C-reactive protein (hsCRP) has been associated with metabolic syndrome (MetS) and its components. Several studies have suggested hsCRP to be used as a marker for the primary prevention of cardiovascular diseases. So, we aimed to evaluate the association between hsCRP levels and the components of MetS in diabetic and non-diabetic population. MATERIALS AND METHODS: Type II diabetic patients (T2DM) (n= 121) and healthy controls (n= 121) were enrolled for the study. Anthropometric measurements were taken along with blood pressure from the arm. Ten ml of blood was collected after overnight fasting for the measurement of lipid profile, hsCRP, C-peptide and glucose levels. Insulin resistance (HOMA2-IR) was estimated by HOMA2 calculator utilizing glucose and C-peptide values. All participants were classified into two groups on the basis of the presence or absence of MetS. Data were analysed through SPSS 14 software. RESULTS: hsCRP, C-peptide and HOMA2-IR were significantly higher in T2DM subjects when compared with controls. As the number of the components of MetS increased, there was a linear increase in hsCRP levels in whole study population (p trend <.001), diabetic subjects (p trend <.001), as well as in controls (p trend <.001). HOMA2-IR and hsCRP levels were found to be better than LDL cholesterol and waist circumference for predicting the presence of MetS. CONCLUSION: hsCRP was found to be better than LDL cholesterol and waist circumference for the prediction of MetS. Hence, hsCRP could be used as a defining marker of MetS in the near future.