Leukocyte Phosphomannomutase and Phosphomannose Isomerase Activity in an Indian Cohort.

Advances in molecular sequencing technology has increased the diagnostic yield for Congenital disorder of glycosylation (CDG). However, novel variants or those of uncertain significance (vus) often pose a challenge and in such cases confirmed diagnosis can be warranted through enzyme analysis of these defects. We thus, aimed to optimize leukocyte-based enzyme assays for first two enzymes involved in N-glycosylation pathway i.

A 58-Year-Old Man With Hemoptysis After COVID-19 Infection.

A 58-year-old man presented to us with a 1-week history of high-grade fever and progressive dry cough. Four weeks before his presentation, he was diagnosed with COVID-19 infection and needed non-ICU hospital admission with no supplemental oxygen requirements for 6 days and was treated with a 5-day course of remdesivir and 3 weeks of dexamethasone. His steroid dose was commenced on dexamethasone 12 mg bid (four times the recommended dose) for 14 days and then gradually tapered over the remaining 7 days.

CONCORDANCE: A real-world evidence study to evaluate the concordance of detecting epidermal growth factor receptor (EGFR) mutation by circulating tumor DNA* versus tissue biopsy in patients with metastatic non-small cell lung cancer.

Background: Molecular tissue testing in non-small cell lung cancer (NSCLC) is done for the assessment of epidermal growth factor receptor (EGFR) mutation. EGFR mutation status is the basis for deciding the targeted treatment option for patients with metastatic NSCLC. The nonavailability of tissue samples and contraindications for biopsy pose a significant challenge.

The intersecting pandemics of tuberculosis and COVID-19: population-level and patient-level impact, clinical presentation, and corrective interventions.

The global tuberculosis burden remains substantial, with more than 10 million people newly ill per year. Nevertheless, tuberculosis incidence has slowly declined over the past decade, and mortality has decreased by almost a third in tandem. This positive trend was abruptly reversed by the COVID-19 pandemic, which in many parts of the world has resulted in a substantial reduction in tuberculosis testing and case notifications, with an associated increase in mortality, taking global tuberculosis control back by roughly 10 years.

Expert Opinion: Optimum Clinical Approach to Combination-Use of SGLT2i + DPP4i in the Indian Diabetes Setting.

The Asian-Indian phenotype of type 2 diabetes mellitus is uniquely characterized for cardio-metabolic risk. In the context of implementing patient-centric holistic cardio-metabolic risk management as a priority, the choice of various combinations of antidiabetic agents should be individualized. Combined therapy with two classes of antidiabetic agents, namely, dipeptidyl peptidase 4 inhibitors and sodium-glucose co-transporter-2 inhibitors, target several pathophysiological pathways.

Role of Telemedicine in Diabetes Management.

Introduction: Telemedicine is a growing arena that may increase access to care for patients with diabetes. It has more relevance for rural populations or those with limited physical access to health care, for improving diabetes care. Telemedicine can also be used to offer diabetes self-education and transportation barriers for patients living in under-resourced areas or with disabilities.

Salvaging lives in carbapenem-resistant Gram-negative osteoarticular and soft tissue infections: early compromises save lives.

Purpose: Incidence of carbapenem-resistant Gram-negative infections has risen alarmingly all across the globe, both in developed and developing countries alike. The purpose of this study was to assess whether challenges of life-threatening infections with very high resistance pattern can be successfully addressed by a modified approach.

Methods: This is a retrospective study of 26 patients with osteoarticular and soft tissue infections with carbapenem-resistant Gram-negative bacilli treated between 2001 and 2017 with at least two year follow-up after stopping antibiotics.

Real-World Outcomes of Hodgkin Lymphoma: A Multi-Centric Registry From India.

Background: Hodgkin's lymphoma (HL) is one of the most curable malignancies with a 5-year survival of over 80%. Most published literature from low-middle income countries comes from single institute experience.

Methodology: The OncoCollect Lymphoma group registry was set up in 2017 and has 9 major participating sites across India.

Factors influencing circulating microRNAs as biomarkers for liver diseases.

MicroRNAs (microRNAs) have been implicated to play crucial roles in various liver diseases. Hepatic microRNAs are released in to the circulation in a systematic fashion, and are, therefore, being extensively explored for their role as prognostic or diagnostic markers or therapeutic targets for numerous hepatic diseases. Advantages such as disease- or tissue-specific expression, and ease of detection have implicated circulating microRNAs (c-microRNAs) as the most desirable candidate for biomarker studies.

Fondaparinux: A cornerstone drug in acute coronary syndromes.

In acute coronary syndrome (ACS), the use of anticoagulants in conjunction with antiplatelet agents in the acute phase has resulted in reduced ischemic events and is more effective than either class of drug used alone. Though parenteral anticoagulation is essential at the time of diagnosis, a balance must be made between ischemic benefit and the increased risk of bleeding when prescribing anticoagulants. Adverse events associated with anticoagulants, such as heparin-induced thrombocytopenia, bleeding problems, and the need for close monitoring of anticoagulant activity, have contributed to finding agents that reduce these limitations.

Performance Evaluation of Fully Automated 5-Part Differential Hematology Analyzer ELite 580 (ERBA).

Unlabelled: The ELite 580 (Erba Lachema) Hematology Analyzer is a newly developed automated hematology analyzer that uses impedance and flow cytometry technologies. The analyzer provides 25 reportable parameters including a 5-part differential and additionally 4 research parameters with a throughput of 80 samples per hour. To evaluate the performance of the fully automated 5-part differential hematology analyzer ELite 580 as per the international standards and correlate the results with a reference analyser, LH 780 from Beckman Coulter.

Analytical Method Validation for Estimation of Neurotransmitters (Biogenic Monoamines) from Cerebrospinal Fluid Using High Performance Liquid Chromatography.

Biogenic amine neurotransmitters such as serotonin and dopamine are essential for signaling in both central and peripheral nervous system. Their metabolism is a multistep pathway and any defect in this results in alteration in metabolites of serotonin 5-Hydroxyindole acetic acid (5HIAA) and dopamine homovanillic acid (HVA) and 3-O-Methyl Dopa (3-OMD). Estimation of these metabolites in cerebrospinal fluid (CSF) assists in diagnosis of neurotransmitter defects.

All India Ophthalmological Society (AIOS) Task Force guidelines to prevent intraocular infections and cluster outbreaks after cataract surgery.

Infectious endophthalmitis is a serious and vision-threatening complication of commonly performed intraocular surgeries such as cataract surgery. The occurrence of endophthalmitis can result in severe damage to the uveal and other ocular tissues even among patients undergoing an uncomplicated surgical procedure. If the infections result from common factors such as surgical supplies, operative or operation theater-related risks, there can be a cluster outbreak of toxic anterior segment syndrome (TASS) or infectious endophthalmitis, leading to several patients having an undesirable outcome.

Targeted exome sequencing in South Indian patients with Familial hypercholesterolemia.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with elevated LDL-C levels which can ultimately lead to premature Coronary Artery Disease (CAD).

Objectives: In presence of limited genetic data on FH in India, the present study was aimed to determine the mutation spectrum in Indian FH patients using a targeted exome sequencing.

Methods: 54 FH cases (31 index cases + 23 extended family members) were categorized according to Dutch Lipid Clinic Network Criteria (DLCNC).

Basic aspects of endometrial receptivity in PCOS patients.

Polycystic Ovarian Syndrome (PCOS) is an endocrine disorder commonly affecting the reproductive capacity of women leading to infertility. PCOS-related infertility is majorly due to anovulation; however, it is not the only cause. The defective endometrium causing recurrent miscarriage and implantation failure can also be accountable for infertility in PCOS women.

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250-500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LDLR mutations, 4% are ApoB, 2% are PCSK9 mutations and the mutational spectrum for 37% is unknown.

CT-Based 3D Reconstruction of Lower Limb Versus X-Ray-Based 3D Reconstruction: A Comparative Analysis and Application for a Safe and Cost-Effective Modality in TKA.

Aim: Patient Specific Instrumentation (PSI) with 3D bone models have been used to improve the outcomes of Total Knee Arthroplasty (TKA). The PSI, however, needs a CT (Computed tomography)/MRI scan to reproduce a bone-based model. However, CT is not a routine imaging method in the TKA and has challenges such as high radiation exposure and increased investigation cost.

Treatment of MRSA infections in India: Clinical insights from a Delphi analysis.

Purpose: International and Indian guidelines for the management of patients with methicillin-resistant Staphylococcus aureus (MRSA) infections are available, but the local guidelines are not MRSA-specific. This study aimed to provide clinical insights for the treatment of MRSA infections in India.

Methods: We used a three-step modified Delphi method to obtain insights.

Bedaquiline Drug Resistance Emergence Assessment in Multidrug-Resistant Tuberculosis (MDR-TB): a 5-Year Prospective Surveillance Study of Bedaquiline and Other Second-Line Drug Susceptibility Testing in MDR-TB Isolates.

Bedaquiline Drug Resistance Emergence Assessment in Multidrug-resistant tuberculosis (MDR-TB) (DREAM) was a 5-year (2015 to 2019) phenotypic drug resistance surveillance study across 11 countries. DREAM assessed the susceptibility of 5,036 MDR-TB isolates of bedaquiline treatment-naive patients to bedaquiline and other antituberculosis drugs by the 7H9 broth microdilution (BMD) and 7H10/7H11 agar dilution (AD) MIC methods. Bedaquiline AD MIC quality control (QC) range for the H37Rv reference strain was unchanged, but the BMD MIC QC range (0.

Can 18F-FDG PET/CT alone or combined with radiology be used to reliably grade cartilage bone neoplasms for surgical decision making?

Objective: Treatment of chondrosarcomas is grade based; intralesional curettage for grade 1 and resection for grade 2 or more. Currently used methods to determine grades before surgery are not highly accurate and create a dilemma for the surgeon. We have used a PET-CT combined with imaging to answer the following study questions: (1) Does SUVmax value from an 18F-FDG PET/CT correlate with the grade of chondrosarcoma? (2) Can a cutoff SUVmax value be used to differentiate between various grades of chondroid neoplasms with sufficient sensitivity and specificity? (3) Does SUVmax guide the clinician and add value to radiology in offering histologic grade-dependent management?

Methods: SUVmax values of patients with suspected chondrosarcoma were retrospectively correlated with the final histology grade for the operated patients.