Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Purpose: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.

Methods: Clinical and family history was collected from case records.

Phage therapy: A novel approach against multidrug-resistant pathogens.

The rapid rise of multidrug-resistant (MDR) organisms has created a critical need for alternative treatment options. Phage therapy is gaining attention as an effective way to fight bacterial infections by using lytic bacteriophages to specifically target and kill harmful bacteria. This review discusses several phage therapeutic options and emphasizes new developments in phage biology.

Revised WHO Guidelines on Hemoglobin Cutoffs to Define Anemia in Individuals and Populations.

In 2024, the World Health Organization (WHO) has proposed revised hemoglobin cutoffs for diagnosing anemia in children aged 6-23 months, pregnant women in the second trimester and those residing in elevated areas with the aim of increasing the sensitivity and ensuring uniformity in diagnosis. There are no major changes in other domains.

Percutaneous thrombolysis via cholecystostomy catheter to dissolve biliary clots causing obstructive jaundice.

Haemobilia, or bleeding within the biliary tree, is rare. It can cause biliary obstruction secondary to blood clots. A comorbid 87-year-old was admitted to hospital with acute cholecystitis, choledocholithiasis, and an bacteremia.

A biomedical perspective of pyocyanin from Pseudomonas aeruginosa: its applications and challenges.

Pyocyanin is a bioactive pigment produced by Pseudomonas aeruginosa. It is an important virulence factor that plays a critical role in P. aeruginosa infections as a redox-active secondary metabolite and a quorum sensing (QS) signaling molecule.

Probiotics and Paraprobiotics: Effects on Microbiota-Gut-Brain Axis and Their Consequent Potential in Neuropsychiatric Therapy.

Neuropsychiatric disorders are clinical conditions that affect cognitive function and emotional stability, often resulting from damage or disease in the central nervous system (CNS). These disorders are a worldwide concern, impacting approximately 12.5% of the global population.

The role of graft T-cell size in patients receiving alemtuzumab serotherapy for non-malignant disorders: results of an institutional protocol.

Although graft T cells assist in engraftment, mediate antiviral immune-reconstitution, and cause graft-versus-host disease, graft size is not determined by T-cell content of the graft. The conventional method of graft size determination based on CD34+ cells with alemtuzumab serotherapy is associated with delayed immune reconstitution, contributing to an increased risk of viral infections and graft failure. Alemtuzumab, a long half-life anti-CD52 monoclonal antibody is a robust T-cell depleting serotherapy, and relatively spares memory-effector T cells compared to naïve T cells.

Type 2 Diabetes Moderates the Association Between Amyloid and 1-Year Change in Everyday Functioning in Older Veterans.

Background: Type 2 diabetes mellitus (T2DM) affects ∼25% of Veterans, a prevalence rate double that of the general population. T2DM is associated with greater dementia risk and has been shown to exacerbate the impact of Alzheimer's disease (AD) risk factors on declines in daily functioning; however, there are few studies that investigate these patterns in older Veterans.

Objective: This study sought to determine whether T2DM moderates the association between amyloid-β (Aβ) positron emission tomography (PET) and 1-year change in everyday functioning in older Veterans.

Potential Underlying Mechanisms Explaining the Cardiorenal Benefits of Sodium-Glucose Cotransporter 2 Inhibitors.

There is a bidirectional pathophysiological interaction between the heart and the kidneys, and prolonged physiological stress to the heart and/or the kidneys can cause adverse cardiorenal complications, including but not limited to subclinical cardiomyopathy, heart failure and chronic kidney disease. Whilst more common in individuals with Type 2 diabetes, cardiorenal complications also occur in the absence of diabetes. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) were initially approved to reduce hyperglycaemia in patients with Type 2 diabetes.

Poor correlation of 2D shear wave elastography and transient elastography in Fontan-associated liver disease: A head-to-head comparison.

Background And Aims: Fontan-associated liver disease (FALD) is a long-term complication of the Fontan procedure. Guidelines recommend elastography, but the utility of transient elastography (TE) and two-dimensional shear wave elastography (2D SWE) is unknown. We aimed to evaluate the relationship between TE and 2D SWE in FALD.

Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, genetic, autosomal recessive disorder characterized by severe thrombocytopenia, due to inefficient bone marrow megakaryopoiesis eventually leading to aplasia. Majority of the cases are due to homozygous or compound heterozygous mutations in MPL gene encoding for thrombopoietin (THPO) receptor protein. CAMT can be diagnosed at early phase of life, with major complication of transfusion dependency and hematopoietic transplantation as only curative treatment.

Comparative Effects of Glucose-Lowering Medications on Kidney Outcomes in Type 2 Diabetes: The GRADE Randomized Clinical Trial.

Importance: Type 2 diabetes (T2D) is the leading cause of kidney disease in the US. It is not known whether glucose-lowering medications differentially affect kidney function.

Objective: To evaluate kidney outcomes in the Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness (GRADE) trial comparing 4 classes of glucose-lowering medications added to metformin for glycemic management in individuals with T2D.

Astaxanthin, a natural antioxidant, lowers cholesterol and markers of cardiovascular risk in individuals with prediabetes and dyslipidaemia.

Aim: To determine the effects of astaxanthin treatment on lipids, cardiovascular disease (CVD) markers, glucose tolerance, insulin action and inflammation in individuals with prediabetes and dyslipidaemia.

Materials And Methods: Adult participants with dyslipidaemia and prediabetes (n = 34) underwent baseline blood draw, an oral glucose tolerance test and a one-step hyperinsulinaemic-euglycaemic clamp. They were then randomized (n = 22 treated, 12 placebo) to receive astaxanthin 12 mg daily or placebo for 24 weeks.

The Evolution of Diabetes Treatment Through the Ages: From Starvation Diets to Insulin, Incretins, SGLT2-Inhibitors and Beyond.

Diabetes is an ancient disease and for centuries extreme diets and herbal remedies were used to treat diabetes symptoms. The discovery of insulin in 1921 transformed the landscape of diabetes treatment and was followed by the discovery of several new therapies which improved glycemia and increased patient life span. However, as patients with diabetes lived longer, they developed classic microvascular and macrovascular diabetes complications.

Increase in hematocrit with SGLT-2 inhibitors - Hemoconcentration from diuresis or increased erythropoiesis after amelioration of hypoxia?

Background And Aims: The SGLT2-inhibitors significantly reduce heart failure hospitalization and progression to end-stage kidney disease. An increase in hemoglobin/hematocrit is seen with SGLT2i-inhibitor treatment. This increase has been attributed to hemoconcentration resulting from a diuretic effect.

A novel hypothesis linking low-grade ketonaemia to cardio-renal benefits with sodium-glucose cotransporter-2 inhibitors.

The cardio-renal benefits of sodium-glucose cotransporter-2 (SGLT2) inhibitors are well established. In 2016, we postulated that these benefits are attributable, in part, to the occurrence of chronic low-grade ketonaemia and a shift in myocardial and renal fuel metabolism away from fat oxidation, which is energy inefficient, towards ketone oxidation, which is more energy efficient. This shift improves myocardial and renal function and can potentially translate into lower rates of progression to heart failure and end-stage kidney disease in patients with and without diabetes.