Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.

Introduction: The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this exploratory study, we assessed if Osmoscans can discriminate NAS from other neurodegenerative diseases.

Methods: A comprehensive assessment was conducted using Osmoscan on a diverse group of patients, including healthy controls ( = 9), neuroacanthocytosis syndrome patients ( = 6, 2 VPS13A and 4 XK disease), Parkinson's disease patients ( = 6), Huntington's disease patients (n = 5), and amyotrophic lateral sclerosis patients ( = 4).

DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.

Background: Hereditary anemias are a group of genetic diseases prevalent worldwide and pose a significant health burden on patients and societies. The clinical phenotype of hereditary anemias varies from compensated hemolysis to life-threatening anemia. They can be roughly categorized into three broad categories: hemoglobinopathies, membranopathies, and enzymopathies.

Case detection delay in leprosy: Testing tool reliability and measurement consistency in Ethiopia, Mozambique, and Tanzania.

Background: Case detection delay (CDD) in leprosy is defined as the period between the onset of the first signs and symptoms and the time of diagnosis. A tool, consisting of a questionnaire and a detailed guide for researchers, which includes photos of typical skin signs and notes on establishing the timing of events, was developed to determine this period of delay in months in recently diagnosed leprosy patients. The aims of the study were to determine the reliability and consistency of this CDD assessment tool.

Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease.

Mitapivat is an investigational, oral, small-molecule allosteric activator of pyruvate kinase (PK). PK is a regulatory glycolytic enzyme that is key in providing the red blood cell (RBC) with sufficient amounts of adenosine triphosphate (ATP). In sickle cell disease (SCD), decreased 2,3-DPG levels increase the oxygen affinity of hemoglobin, thereby preventing deoxygenation and polymerization of sickle hemoglobin.

Risk Factors for COVID-19 and Respiratory Tract Infections during the Coronavirus Pandemic.

(1) Background: Some individuals are more susceptible to developing respiratory tract infections (RTIs) or coronavirus disease (COVID-19) than others. The aim of this work was to identify risk factors for symptomatic RTIs including COVID-19 and symptomatic COVID-19 during the coronavirus pandemic by using infection incidence, participant baseline, and regional COVID-19 burden data. (2) Methods: Data from a prospective study of 1000 frontline healthcare workers randomized to Bacillus Calmette-Guérin vaccination or placebo, and followed for one year, was analyzed.

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.

Background: Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death.

The RoxyScan is a novel measurement of red blood cell deformability under oxidative and shear stress.

Exposure to both oxidative and shear stress, a condition that the red blood cell (RBC) continuously experiences in the circulation in vivo can be mimicked in a Couette type viscometer and monitored by ektacytometry. RBCs maintain their deformation and orientation under shear stress and oxidative stress until a threshold is reached at which these conditions appear to overwhelm the elaborate and complex pathways that maintain a proper redox environment in the cell. Oxidative stress under shear alters the ability of the cell to deform, changes cell morphology, its orientation in the shear stress field, and appears to alter intracellular and membrane characteristics.

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

The hexokinase (HK) enzyme plays a key role in red blood cell energy production. Hereditary non-spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare disorder with only 12 different disease-associated variants identified. Here, we describe the clinical features and genotypes of four previously unreported patients with hexokinase 1 (HK1)-related HNSHA, yielding two novel truncating HK1 variants.

A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.

The most common forms of sickle cell disease (SCD) are sickle cell anemia (SCA; HbSS) and HbSC disease. In both, especially the more dense, dehydrated and adherent red blood cells (RBCs) with reduced deformability are prone to hemolysis and sickling, and thereby vaso-occlusion. Based on plasma amino acid profiling in SCD, a composition of 10 amino acids and derivatives (RCitNacQCarLKHVS; Axcella Therapeutics, USA), referred to as endogenous metabolic modulators (EMMs), was designed to target RBC metabolism.

The NLR SkinApp: Testing a Supporting mHealth Tool for Frontline Health Workers Performing Skin Screening in Ethiopia and Tanzania.

The prevalence of skin diseases such as leprosy, and limited dermatological knowledge among frontline health workers (FHWs) in rural areas of Sub-Saharan Africa, led to the development of the NLR SkinApp: a mobile application (app) that supports FHWs to promptly diagnose and treat, or suspect and refer patients with skin diseases. The app includes common skin diseases, neglected tropical skin diseases (skin NTDs) such as leprosy, and HIV/AIDS-related skin conditions. This study aimed to test the supporting role of the NLR SkinApp by examining the diagnostic accuracy of its third edition.

Impact of basic psychological support on stigma and mental well-being of people with disabilities due to leprosy and lymphatic filariasis: a proof-of-concept study.

Background: People with leprosy and lymphatic filariasis (LF)-related disabilities experience higher levels of poor mental well-being compared with the general community. Mental health services are often not available. This study was conducted to provide proof of concept that basic psychological support for people affected by neglected tropical diseases (BPS-N) can be given by peer supporters to reduce stigma, improve mental well-being and participation among clients.

Impact of basic psychological support on stigma and the mental well-being of people with disabilities due to leprosy and lymphatic filariasis: a postintervention evaluation study.

Background: A peer support intervention, called basic psychological support for people affected by neglected tropical diseases (BPS-N), was piloted in India to improve mental well-being and social participation and to reduce stigma among people with disabilities due to leprosy or lymphatic filariasis. Preintervention and postintervention assessments showed improvements in mental well-being and reductions in depression and stigma. This study aimed to further evaluate this intervention at approximately 2 mo after its completion.

Oxygen gradient ektacytometry-derived biomarkers are associated with acute complications in sickle cell disease.

We investigated the potential of the point of sickling (PoS; the pO2 tension at which red cells start to sickle), determined by oxygen gradient ektacytometry to serve as a biomarker associated with the incidence of acute sickle cell disease-related complications in 177 children and 50 adults. In the pediatric cohort, for every 10 mmHg increase in PoS reflecting a greater likelihood of sickling, the likelihood of an individual experiencing >1 type of acute complication increased; the adjusted odds ratio (aOR) was 1.65.