Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.

Objective: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding AS are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide.

Indirect Immunofluorescence-Aided Detection of Antimyelin Oligodendrocyte Glycoprotein Antibodies in Neuromyelitis Optica Spectrum Disorder/Myelin Oligodendrocyte Glycoprotein-Associated Antibody Disorder: A Case Series Involving Five Patients.

Autoantibodies are the cause of the chronic inflammatory diseases known as neuromyelitis optica spectrum disorders (NMOSD). Serum antibodies (Abs) that specifically target the aquaporin-4 (AQP-4) water channel are the cause of recurrent episodes of optic neuritis, myelitis, and/or brain stem disorders. In contrast to AQP-4 Abs, myelin oligodendrocyte glycoprotein (MOG) Abs are detected in some patients exhibiting nonmotor cognitive impairment.

Antinuclear antibody (ANA) positivity pattern by line immunoassay in a hospital from eastern India: Update from a laboratory perspective.

Context: The existence of more than one antibody in systemic autoimmune rheumatic diseases (SARDs) or connective tissue disease (CTD) along with features of more than one autoimmune disease (AD) in an individual is suggestive of overlap syndrome (OS). Line immunoassay (LIA) can target many autoantibodies in a single approach, thus making the identification of OS feasible.

Aims And Objectives: This study aimed to identify the pattern of distribution of antinuclear antibodies by LIA prevalent in a hospital population in eastern India and identify common forms of SARD in this belt based on laboratory findings.

The Kaleidoscope of Polyautoimmunity: An Odyssey of Diagnostic Dilemmas.

Diagnostic accuracy is of the utmost importance, both in the clinical setting and for research purposes. Mixed connective tissue disease (MCTD), rheumatoid arthritis (RA), Sjogren's syndrome (SS), and overlap syndrome (OS) frequently exhibit symptoms that mimic those of other conditions. Unfortunately, there is no singular definitive test for diagnosing these connective tissue diseases (CTDs), necessitating the reliance on expert opinions.

Hepatogenous Diabetes as Compared to Type-2 Diabetes Mellitus and Non-diabetes in Patients With Liver Cirrhosis: Magnitude, Characteristics, and Implications.

Aim: Hepatogenous diabetes (HD) is frequently underestimated among cirrhosis patients. The current study assessed the magnitude, clinical characteristics, and implications of HD in cirrhosis patients as compared to the patients with type-2 diabetes mellitus (T2DM) and non-diabetes (ND) cirrhosis.

Methods: In a prospective observational study, 338 consecutive eligible cirrhosis patients were screened for diabetes mellitus.

Development of Predictive Models Based on Biochemical Parameters to Triage COVID-19 Patients: A Study Conducted in a Tertiary Care Hospital.

Background The COVID-19 disease continues to cause severe mortality and morbidity. Biochemical parameters are being used to predict the severity of the infection. This study aims to predict disease severity and mortality to help reduce mortality through timely intervention in a cost-effective way.

From Causatum to Erratum, all in a name.

Background: This study highlights how a trivial mistake in collecting timed blood samples of parathyroid hormone (PTH) during parathyroidectomy (PTX) can potentially become a serious error affecting surgical closure.

Methods: For the measurement of serum PTH, the intact PTH (iPTH) test was used to obtain baseline, preoperative, intraoperative, and postoperative samples of PTH, to guide the surgical team regarding adequacy of PTX.

Results: Due to the lack of proper guidelines, all types of samples for PTH are labeled as iPTH by the Laboratory Information Services (LIS) software.

Pre-analytical errors in coagulation testing: a case series.

Objectives: Prevention of pre-analytical issues in coagulation testing is of paramount importance for good laboratory performance. In addition to common issues like hemolysed, icteric, or lipemic samples, some specific pre-analytical errors of coagulation testing include clotted specimens, improper blood-to-anticoagulant ratio, contamination with other anticoagulants, etc. Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are very commonly affected tests due to pre-analytical variables.

The Role of Indirect Immunofluorescence (IIF) and Line Immunoassay (LIA) in the Diagnosis of Autoimmune Diseases and Their Clinical Correlation: An Observational Study From a Tertiary Care Center in Bihar.

Background and aim The presence of distinct sets of autoantigens and autoantibodies bestow these autoimmune diseases (ADs) with specific immune profiles or fingerprints, which has cleared the diagnostic dilemma associated with these ADs. This study was planned to collate and compare the reporting of indirect immunofluorescence (IIF) with line immunoassay (LIA) and their clinical correlations. This study was conducted to investigate the association between the reporting of anti-nuclear antibody (ANA) screening by IIF and ANA profile reporting by LIA.

Association of serum adiponectin levels and ADIPOQ SNP rs2241766 with breast cancer risk in Indian women.

Context: Adiponectin, an adipokine, and its gene polymorphisms have been associated with breast cancer risk in various populations.

Subjects And Methods: In this study, we evaluated the association of the circulating levels of adiponectin and adiponectin gene polymorphism SNP rs2241766 with breast cancer and its clinicopathological characteristics in Indian women. A case-control study was carried out with 60 Ductal Infiltrating Breast Carcinoma patients and 60 age-matched healthy controls.

Interference of anti-nuclear antibodies on determination of anti-neutrophil cytoplasmic antibodies in patients suspected of vasculitis: a case series.

Anti-neutrophil cytoplasmic antibodies (ANCA) are mainly associated with medium and small vessel vasculitis. Two main methodologies currently available for detection of these antibodies are indirect immunofluorescence (IIF) and monospecific proteinase 3 (PR3) and myeloperoxidase (MPO) based immunoassays. However, well-defined guidelines regarding mode of testing for ANCA in laboratories still don't exist, leading to problems in diagnosis and further patient management.

Prognostic value of elevated cardiac and inflammatory biomarkers in patients with severe COVID-19: a single-center, retrospective study.

Background: The outbreak of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 in India has been declared a public health emergency. Many patients with COVID-19 experience cardiac injury. Patients with COVID-19 admitted to the intensive care unit (ICU) with acute myocardial injury showed increased high-sensitivity troponin levels.

Anti-F-Actin Antibody Positivity on Indirect Immunofluorescence Assay Following Chinese and Alternative Medicine Therapy: A Case Report.

Immunofluorescence on human epithelial type 2 cells is the standard screening assay for the detection of antinuclear antibodies (ANA). Cytoplasmic speckled patterns are a common finding. However, the less commonly reported ones include the cytoplasmic fibrillar patterns on indirect immunofluorescence technique (IIFT).

Posttreatment Persistence of Monoclonal Protein on Immunofixation Electrophoresis but Absence on Serum Protein Electrophoresis in a Case of Solitary Bone Plasmacytoma.

Laboratory investigations for any suspected case of solitary plasmacytoma of bone include routine biochemical and hematological investigations along with β2-microglobulin, electrophoresis of serum protein and/or 24-hour urine protein, serum protein immunofixation (IFE), and nephelometric quantification of total immunoglobulin isotype and serum free light chain levels. Bone marrow aspirate and trephine biopsy are mandatory to confirm the absence of clonal plasma cells (for solitary plasmacytoma) or the presence of less than 10% clonal cells (solitary plasmacytoma with minimal bone marrow involvement). Imaging studies such as X-ray, computed tomography (CT), magnetic resonance imaging, and positron emission tomography/CT should be used to complement laboratory tests in diagnosis, staging, and defining the local extent of the plasmacytoma.

Variation in biochemical parameters in COVID-19 patients admitted at a tertiary care dedicated COVID hospital: A prospective study.

Introduction: COVID-19 infection has a myriad of presentation. Rural India and other developing nations are relatively resource poor, not having access to modern specialized investigations. In this study, we tried to evaluate only biochemical parameters in predicting the severity of the infection.

Accuracy of Serum Parathyroid Hormone Measured on the Early Morning of the First Postoperative Day in Predicting Clinically Significant Post-Total Thyroidectomy Hypocalcemia.

Introduction: Clinical hypocalcemia (CH) following total thyroidectomy (TT) is a potentially life-threatening condition if left untreated. This study aimed at evaluating the accuracy of parathyroid hormone (PTH) measured in the early morning of the first postoperative day (POD-1) in predicting CH, and determining the cutoff values of PTH that can predict the development of CH.

Methods: We performed a retrospective review of patients undergoing TT between February 2018 and July 2022.

Relation Between HbA1c and Lipid Profile Among Prediabetics, Diabetics, and Non-diabetics: A Hospital-Based Cross-Sectional Analysis.

Introduction: An unusually high blood glucose level is a hallmark of diabetes mellitus, with an imbalance between insulin levels and insulin sensitivity leading to an insulin functional deficit. Since it serves as both a risk indicator and a gauge of long-term glycemic control, the HbA1c concentration is a crucial component of standard diabetes treatment. The use of the HbA1c concentration in the diagnosis of diabetes is expanding as the test's accuracy increases.

A Search for Uniformity in Human Chorionic Gonadotropin (hCG) Reporting.

Varying reports across different laboratories or across different analysers in the same lab for the same sample is not an uncommon phenomena. Experts call this a lack of harmonization. A test that is harmonized provides the same results regardless of the manufacturer of reagents used or the laboratory where the test is performed.

Ultrasound-guided aspiration of an orbital abscess.

A 10-year-old boy presented with severe proptosis due to a retrobulbar abscess. Ultrasound-guided needle aspiration was performed under intravenous sedation with complete abscess core decompression and resolution of proptosis.

An Epidemiological Investigation to evaluate the link between hypovitaminosis D and COVID-19.

Background: The COVID-19 pandemic has become a global threat, with an inexplicable course of action and suboptimal response to the multitudes of therapies being tried. Vitamin D's pleiotropic effects (immunomodulatory, anti-inflammatory, and antiviral) have lately received considerable attention in the scientific community, and it has been shown to be helpful in the defense against viral respiratory infections.

Aim: To find out the association between vitamin D and COVID-19.

Sero-epidemiological survey of SARS-Cov2 in urban slums of a capital city: A cross- sectional study.

Introduction: Slums are the most vulnerable settlements for COVID-19 infection due to overcrowding and unsanitary conditions. Thus, this study was undertaken to determine the level of seroprevalence for SARS-CoV-2 infection among slum dwellers.

Material And Methods: A community-based cross-sectional seroepidemiological survey was conducted at several slums of Patna over four weeks, that is, January 20-February 20, 2021.

POEMS Syndrome: Clinical and Laboratory Approach Towards Diagnosis.

Polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes (POEMS) syndrome is a rare multisystem paraneoplastic disorder. Here we describe a case of a 50 year old post-menopausal female who presented with chief complaints of difficulty in walking, getting up from squatting position and tingling sensation of bilateral lower limbs since 1 month. Additional unusual features in the patient included hepatosplenomegaly, endocrinal involvement in the form of hypothyroidism and elevated estradiol levels for her age.

Risk of vertical transmission of SARS CoV-2 infection to neonates born to covid positive mothers: A pilot study from a tertiary care hospital of North India.

Objectives: To assess the risk of neonatal SARS-CoV-2 infection born to the women with confirmed SARS-CoV-2 infection.

Materials And Methods: This prospective study was conducted at single tertiary hospital from September 2020 and May 2021. 50 pregnant women with confirmed SARS-CoV-2 infection and 50 neonates were included for analysis.

IgA Monoclonal Gammopathy with Pseudohyperphosphatemia.

Monoclonal gammopathies (MGs) reflect conditions in which abnormal amounts of immunoglobulins are produced by a clone that developed from a single pro-B germ cell. They range from asymptomatic, benign disorders such as monoclonal gammopathy of undetermined significance to malignant plasma cell and lymphoid disorders, including multiple myeloma and Waldenstorm macroglobulinemia. The identification of the particular subtype of immunoglobulin molecule is done by serum immunofixation by use of specific antisera directed against different subtypes of immunoglobulin classes.