Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge.

Griscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing.

Exploring the dielectric properties of herbal medicine and modern pharmaceuticals: an integrative review.

The integration of herbal medicine with modern pharmaceuticals offers a novel approach to addressing complex healthcare challenges. This study investigates the role of dielectric spectroscopy in analysing key physicochemical properties such as solubility, stability, and molecular interactions. The findings reveal that combining herbal extracts with pharmaceutical agents enhances solubility and stability.

Upconverter loaded MoS counter electrode for broadband dye-sensitized solar cell applications.

An interesting approach of including an upconverter in the MoS counter electrode can yield broadband light harvesting Pt-free DSSC assembly. Here different upconverter (UC) nanoparticles (Yb, Er incorporated NaYF, YF, CeO & YO) were synthesized and loaded in MoS thin film by hydrothermal method. The inclusion of UCs in MoS films exposed without any secondary formation of upconverters and the uniform deposition of the films are confirmed through XRD and FESEM analysis respectively.

The Impact of Epigenetics on the Pathophysiology of Type 2 Diabetes and Associated Nephropathic Complications.

Type 2 diabetes (T2D) is a long-term metabolic condition that presents considerable health challenges globally. As the disease progresses, the interplay between genetic, environmental, and lifestyle factors becomes increasingly evident, leading to complications. Epigenetics has emerged as a critical area of research, providing insights into how these factors can modify the expression and cellular behavior without altering the underlying DNA sequence.

Navigating the Labyrinth of Gender Incongruence in Conservative Societies: A Call for Compassion and Understanding.

In the conservative heartland of Haryana, India, a poignant encounter in a hospital chamber revealed the raw, often overlooked struggles of gender incongruence. A young woman, presenting in masculine attire and identifying herself with the pronouns 'he' and 'him', sought not only medical assistance for transition to male but also the validation of his identity amidst a backdrop of societal prejudice. This case underscores the complexities faced by individuals with gender incongruence in a society resistant to non-binary identities.

Dietary Calcium Intake and Association with Serum Calcium in Healthy Urban North Indian Adults: The Calcium-Chandigarh Urban Bone Epidemiological Study.

Introduction: Data on dietary calcium intake (DCI) from healthy North Indian adults are limited. Hence, the present study aims to assess DCI in healthy community-dwelling adults residing in an affluent North Indian city and correlate with serum biochemical parameters.

Methods: Healthy men and women were recruited from the community by door-to-door surveys.

QRISK 3 and ASCVD Risk Calculator in Patients with Diabetes and Their Correlation with Coronary Artery Calcium Scores.

Introduction: Diabetes mellitus is an independent risk factor for asymptomatic cardiovascular disease (CVD). The QRISK 3 score and atherosclerotic cardiovascular disease (ASCVD) risk scores determine the risk of developing CVD over 10 years. The CT coronary artery calcium score (CACS) is a non-invasive imaging modality that identifies sub-clinical atherosclerosis.

Immunohistochemical Expression of HBME-1 in a Spectrum of Thyroid Neoplasms.

Introduction: Thyroid neoplasms are the most common malignancy of the endocrine system, representing 3.8% of new cancer cases, and it is the ninth most common cancer overall. The immuno-histochemical marker Hector Battifora Mesotheilial-1 (HBME-1) is a monoclonal antibody that now finds its diagnostic utility as a positive marker for well-differentiated thyroid carcinomas.

Role of Long-Acting Porcine Sequence ACTH (Acton Prolongatum) Stimulated Cortisol in Assessing Glucocorticoid Status in COVID-19 Patients.

Introduction: Conflicting research on cortisol levels and COVID-19 mortality prompted this study to comprehensively assess glucocorticoid status, its links to severity and outcomes, and the role of Acton prolongatum-stimulated cortisol.

Methods: This is a prospective observational study, conducted in 100 RT-PCR-positive COVID-19 patients of mild, moderate, and severe grades from June 2021 to May 2023. Random cortisol, plasma ACTH, and action prolongatum stimulated cortisol were measured, categorized, and analyzed.

Effectiveness of Oral Semaglutide in Management of Type 2 Diabetes: A Real-World Study from India.

Introduction: Oral Semaglutide (Sema-o) is the first oral glucagon like peptide-1 receptor analogue (GLP-1RA) commercially available for the treatment of type 2 diabetes (T2D). This study aimed to evaluate the efficacy of Sema-o in patients with T2D when added to the existing therapy.

Methods: This retrospective real-world study enrolled adult patients with diabetes taking Sema-o, with at least one follow-up (from February 2022 till October 2023).

Outcome of Lu-DOTATATE Peptide Receptor Radionuclide Therapy in Progressive Metastatic Neuroendocrine Tumors from a Tertiary Care Center.

Introduction: Functioning neuroendocrine tumors (NETs) that do not respond to standard therapies are commonly considered for Peptide Receptor Radionuclide Therapy (PRRT). The benefit of Lu-DOTATATE PRRT in patients with progressive metastatic NET was analyzed and survival in multi-organ involvement.

Methods: Forty-one patients with refractory, progressive, or advanced symptomatic NETs, with or without previous treatment modalities were studied.

Glucagon, rather than Glucagon-Like Peptide 1, Mediates Higher Post-Lunch Glucose Excursions during Breakfast Skipping in Asian Indian Patients with Uncontrolled Type 2 Diabetes Mellitus.

Introduction: The effect and mechanism of skipping breakfast on glycemic control in type 2 diabetes mellitus (T2DM) in Asian-Indians is unknown.

Methods: Cross-over, within-group study recruiting 5 habitual breakfast eaters (BE) and 5 habitual breakfast skippers (BS) with uncontrolled T2DM (HbA1c 7-9%). Patients underwent testing after three days of following their usual breakfast habits and after seven days of crossing over to the other arm.

The Role of Neck Ultrasonography and Nuclear Imaging in the Diagnosis of Congenital Hypothyroidism.

Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation, and the two important causes of CH are thyroid dysgenesis and dyshormonogenesis. Thyroid imaging is an integral part of identifying the specific aetiology of CH. We aimed to study the aetiological profile of CH and compare the imaging findings of ultrasonography (USG) and nuclear scintigraphy.

Insulinoma in Patients with Diabetes- A Systematic Review of Previously Reported Cases.

Introduction: Paradoxical co-existence of insulinoma and diabetes is extremely rare. Although a few case reports addressed this association, a comprehensive study elucidating this relationship has been lacking. We performed a systematic review of published cases of insulinoma in diabetes.

Effect of Millets Once a Day on Glycaemic Control among Women with Gestational Diabetes Mellitus in a Tertiary Care Setting - A Randomized Controlled Trial.

Introduction: Gestational diabetes mellitus (GDM) affects 14% of pregnancies globally, with a prevalence of 9-16% in India. Low-glycaemic index (GI) foods like millets may help control glycaemia in GDM. This study compared glycaemic control between GDM patients consuming millets once a day (MOD) and those receiving enhanced medical nutrition therapy (MNT) for 1 month.

Role of Artificial Intelligence in Diabetes Mellitus Care: A SWOT Analysis.

Diabetes mellitus has become one of the major public health problems in India. Chronic nature and the rising epidemic of diabetes have adverse consequences on India's economy and health status. Recently, machine learning (ML) methods are becoming popular in the healthcare sector.

Performance of Vasopressin Stimulated Bilateral Inferior Petrosal Sinus Sampling in Corticotropin Dependent Cushing's Syndrome with Negative or Equivocal 3 Tesla Contrast Enhanced Magnetic Resonance Imaging of Pituitary.

Introduction: Corticotropin releasing hormone (CRH)-stimulated bilateral inferior petrosal sinus sampling (BIPSS) is the most accurate procedure in the differential diagnosis of adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS) with a sensitivity of 88-100% and a specificity of 67-100%. However, CRH is not available globally currently. We undertook this study of BIPSS using lysine vasopressin (LVP) as an agent to stimulate the release of ACTH from corticotrophs.

Elucidating the Prognostic Role of and the Activation Status of the Downstream MAPK Pathway in PTC: A Study from a Tertiary Centre in India.

Introduction: Papillary thyroid carcinoma (PTC) has an excellent prognosis, but few cases are treatment-resistant. To check the applicability of combined and MEK-targeted therapy, the current study correlated with the MAPK pathway activation status in a cohort of PTCs. The prognostic relevance of and the usability of immunohistochemistry (IHC) for detecting the mutation were also assessed.

C2 Vertebra: An Enigma for Young Spine/Neurosurgeons.

 Instrumentation of C2 vertebra is considered the most difficult for young neurosurgeons and trainees due to its complex anatomical structures, variety of surgical approaches and techniques, and proximity to important neurovascular structures. Key points from a surgical perspective for midline posterior approach is described in the era of neuroradiological advancements.  Computed tomography angiographies (CTAs) of a total of 92 patients were evaluated with special attention to the key findings for insertion of screws for craniovertebral junction (CVJ) fixations.

Effect of halo-tolerance gene Hal5 on ethanol tolerance of .

Hal5 gene is involved in halo-tolerance of during high salt stress. Ethanol stress and high salt stress have similarities, as both decrease the availability of water for cells and strain the osmotic homeostasis across the cell membrane. The Hal5 over-expression strain of yeast has more ethanol tolerance, but the Hal5 null mutant strain also has more ethanol tolerance than the wild-type strain.

Safety and tolerability of intramuscular sotrovimab administered at different injection sites: results from the Phase 1 COSMIC study.

ClinicalTrials.gov identifier, NCT05280717.

Electrochemical Cyclization-Desulfurization Approach for the Synthesis of 1,3-Benzoxazines Using Cascade C-O and C-N Bond Formation.

A cost-effective, eco-friendly, and highly efficient one-pot electrochemical process has been described for the synthesis of 4-1,3-benzoxazine and 4,5-dihydro-1,3-benzoxazepine derivatives by employing 2-aminobenzyl alcohols, 2-(2-aminophenyl)ethan-1-ol, isothiocyanate derivatives, and TBAPF as an electrolyte. The developed method is accomplished at 25 °C with a constant current of 20 mA. Utilizing a graphite anode and a platinum cathode in a dimethyl sulfoxide solvent, the devised metal-free electrochemical approach minimizes the production of waste and eliminates the need for external oxidizing agents.