red cell membrane defect

Hereditary hemolytic anemia (HHA) is a heterogeneous group of disorders due to genetically caused defects in red blood cell membrane structure, enzymes, heme and globin synthesis, erythroid proliferation, and differentiation. Traditionally, the diagnostic process is complex and includes a plethora of tests from routine to highly specialized ones. The inclusion of molecular testing has significantly improved the diagnostic yield. The value of molecular testing is broader than just rendering the correct diagnosis, as it may also guide therapeutic decisions...

UNLABELLED: Autoimmune hemolytic anemia (AIHA) is a type of hemolytic anemia in which autoantibodies attack the membrane antigens of red blood cells, causing cell rupture (lysis). Hemolysis stimulates compensatory RBC production by boosting erythropoietin levels; however, this response is often insufficient to restore normal hemoglobin blood levels, resulting in anemia. It is a rare disease, with an annual incidence of one case in every 80 000 live births. Infants of any age can be affected, though neonatal incidence is unusual...

INTRODUCTION: The Masquelet technique is a relatively new method for large bone defect treatment. In this technique, grafted bone tissue is used, and after the cement is removed, the induced membrane (IM; that form around the cement spacers placed in the bone defect region) is thought to play an important role in promoting bone formation. On the other hand, low-intensity pulsed ultrasound (LIPUS) is known to promote fracture healing and angiogenesis through mechanical stimulation. This study aimed to investigate the in vitro effects of LIPUS on the osteogenic differentiation of human induced membrane-derived cells (IMCs)...

Methemoglobinemia is an acquired or inherited condition resulting from oxidative stress or dysfunction of the NADH-cytochrome b5 reductase or associated pathways. This study describes the clinical, pathophysiological, and molecular genetic features of a cat with hereditary methemoglobinemia. Whole genome sequencing and mRNA transcript analyses were performed in affected and control cats. Co-oximetry, ektacytometry, Ellman's assay for reduced glutathione concentrations, and CYB5R activity were assessed. A young adult European domestic shorthair cat decompensated at induction of anesthesia and was found to have persistent methemoglobinemia of 39 ± 8% (reference range < 3%) of total hemoglobin which could be reversed upon intravenous methylene blue injection...

Glyco-quantum dots (glyco-QDs) have attracted significant interest in bioimaging applications, notably in cancer imaging, because they effectively combine the glycocluster effect with the exceptional optical properties of QDs. The key challenge now lies in how to eliminate the high heavy metal toxicity originating from traditional toxic Cd-based QDs for in vivo bioimaging. Herein, we report an eco-friendly pathway to prepare nontoxic Cd-free glyco-QDs in water by the "direct" reaction of thiol-ending monosaccharides with metal salts precursors...

Hyperpolarized 129 Xe MRI (Xe-MRI) is increasingly used to image the structure and function of the lungs. Because 129 Xe imaging can provide multiple contrasts (ventilation, alveolar airspace size, and gas exchange), imaging often occurs over several breath-holds, which increases the time, expense, and patient burden of scans. We propose an imaging sequence that can be used to acquire Xe-MRI gas exchange and high-quality ventilation images within a single, ~10 s breath-hold. This method uses a radial 1-point Dixon approach to sample dissolved 129 Xe signal, which is interleaved with a 3D spiral ("FLORET") encoding pattern for gaseous 129 Xe...

BACKGROUND: Hereditary hemolytic anemia (HHA) is defined as a group of heterogeneous and rare diseases caused by defects of red blood cell (RBC) metabolism and RBC membrane, which leads to lysis or premature clearance. The aim of this study was to investigate individuals with HHA for potential disease-causing variants in 33 genes reported to be associated with HHA. METHODS: A total of 14 independent individuals or families diagnosed with suspected HHA, and in particular, RBC membranopathy, RBC enzymopathy, and hemoglobinopathy, were collected after routine peripheral blood smear testing...

INTRODUCTION: Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia. MATERIALS AND METHODS: Our hemolytic anemia diagnostic next-generation sequencing (NGS) panel includes 28 genes encoding RBC cytoskeletal proteins, membrane transporter, RBC enzymes, and certain bilirubin metabolism genes...

Splenectomy improves clinical parameters of patients with hereditary spherocytosis but its potential benefit to red blood cell (RBC) functionality and the mechanism behind this benefit remain largely overlooked. We here compared 7 non-splenectomized and 12 splenectomized patients with mutations in the β-spectrin (SPTB) or the ankyrin (ANK1) gene. We showed that hematological parameters, spherocyte abundance, osmotic fragility, intracellular calcium and extracellular vesicle release were largely but not completely restored by splenectomy whereas cryohemolysis was not...

PURPOSE: To investigate the role and underlying mechanism of GDF11 on diabetic nephropathy (DN)-related mitochondrial dysfunction and apoptosis. METHODS: A DN model of rats was established in this study. Human Kidney-2 (HK-2) cells were cultured under high-glucose (HG) condition with or without recombinant GDF11 (rGDF11). Mitochondrial morphology of HK-2 cells was analyzed by transmission electron microscope and MitoTracker Red CMXRos staining. Mitochondrial membrane potential (MMP) and ROS production were monitored using JC-1 assay kit and MitoSOX staining, respectively...

It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson's disease. A plethora of evidence suggests that disturbed α-Synuclein homeostasis is the link between Gaucher disease and Parkinson's disease. The pathogenic mechanism linking these entities is still a topic of debate and both gain- and loss-of-function theories have been put forward, which however are not mutually exclusive. In the present study we expanded our previous studies to include not only Gaucher disease patients but also Gaucher disease carriers and Gaucher disease patients following Enzyme Replacement Therapy...

RATIONALE: Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two families of RBC membrane disorders in Taiwanese, one was HS and the other was HE. PATIENT CONCERNS: Case 1. A 19-year-old male student with chronic jaundice and splenomegaly. His mother, maternal uncle, grandmother, and many members of older generations also had splenomegaly and underwent splenectomy...

Hereditary Spherocytosis (HS) is a common cause of hemolytic anemia varying from mild to severe hemolysis due to defects in red cell membrane protein genes, namely ANK1, SPTB, SPTA1, SLC4A1, and EPB42. These genes are considerably very large spaning 40-50 exons making gene-by-gene analysis costly and laborious by conventional methods. In this study, we explored 26 HS patients harboring 21 ANK1 variants identified by next-generation sequencing (NGS), characteristics and spectrum of the detected ANK1variants were analyzed in this study...

BACKGROUND: Destruction of alveolar bone and periodontal ligament due to periodontal disease often requires surgical treatment to reconstruct the biological construction and functions of periodontium. Despite significant advances in dental implants in the past two decades, it remains a major challenge to adapt bone grafts and barrier membrane in surgery due to the complicated anatomy of tooth and defect contours. Herein, we developed a novel biphasic hierarchical architecture with modularized functions and shape based on alveolar bone anatomy to achieve the ideal outcomes...

See Bonus NeoBriefs videos and downloadable teaching slides Understanding the physiologic process of red blood cell development in utero and subsequent erythropoiesis in the neonate is crucial as this determines red blood cell structure and therefore function, which is vital to neonatal health. Infants frequently experience anemia, and special consideration must be given to the evaluation of these infants to determine the correct etiology. Traditionally, anemia is conceptualized in terms of inadequate red blood cell production, increased red blood cell destruction, or whole blood loss...

Prader-Willi syndrome (PWS) is a rare congenital disease with genetic alterations in chromosome 15. Although genetic disorders and DNA methylation abnormalities involved in PWS have been investigated to a significant degree, other anomalies such as those in erythrocytes may occur and these have not been clearly elucidated. In the present study, we uncovered slight anemia in children with PWS that was associated with increased red blood cell (RBC) distribution width (RDW) and contrarily reduced hematocrit (HCT) values...

Branched-chain amino acids (BCAAs) leucine, isoleucine and valine biosynthetic pathways have been reported from plants, fungi and bacteria including Mycobacterium tuberculosis (Mtb) but are absent in animals. This makes interventions with BCAAs biosynthesis an attractive proposition for antimycobacterial drug discovery. In the present study, Mycobacterium tuberculosis H37Ra (Mtb-Ra) ketol-acid reductoisomerase encoding ORF MRA_3031 was studied to establish its role in Mtb-Ra growth and survival. Recombinant knockdown (KD) and complemented (KDC) strains along with wild-type (WT) Mtb-Ra were studied under in-vitro and ex-vivo conditions...

Von Willebrand disease (VWD) is an autosomal inherited hemostasis disorder caused by a deficiency or defect in the blood protein known as von Willebrand factor, which is necessary for platelets to adhere to damaged vessel walls. The main symptoms of the condition include spontaneous bleeding from mucosal membranes, excessive wound bleeding, and menorrhagia in girls. On the other hand, hereditary spherocytosis (HS) is a heterogeneous group of diseases that damage red blood cells, with clinical manifestations depending on the different membrane protein-encoding gene mutations, their different functional consequences, and the mechanism of inheritance...

This study aimed to examine the effects of loading different concentrations of metformin onto an α-hemihydrate calcium sulfate/nano-hydroxyapatite (α-CSH/nHA) composite. The material characteristics, biocompatibility, and bone formation were compared as functions of the metformin concentration. X-ray diffraction results indicated that the metformin loading had little influence on the phase composition of the composite. The hemolytic potential of the composite was found to be low, and a CCK-8 assay revealed only weak cytotoxicity...

During adverse postharvest storage of Red haricot beans, the inositol phosphate content, particularly InsP6 , decreased significantly, along with a significant increase in InsP5 . Using a texture-based classification approach, the InsP6 content in cotyledons was shown an indicator for the extent of hard-to-cook (HTC) development during bean aging. This textural defect development was predominated by storage-induced InsP6 degradation, rather than phytate interconversions during soaking. Ca cations, released during storage, did not leach out significantly during subsequent soaking, suggesting that they were bound with the cell wall pectin in cotyledons, while Mg cations were mostly leached out into the soaking water due to their weak binding capacity to the pectin, and the cell membrane damages developed during HTC...