keyword
https://read.qxmd.com/read/38657265/exagamglogene-autotemcel-for-transfusion-dependent-%C3%AE-thalassemia
#1
JOURNAL ARTICLE
Franco Locatelli, Peter Lang, Donna Wall, Roland Meisel, Selim Corbacioglu, Amanda M Li, Josu de la Fuente, Ami J Shah, Ben Carpenter, Janet L Kwiatkowski, Markus Mapara, Robert I Liem, Maria Domenica Cappellini, Mattia Algeri, Antonis Kattamis, Sujit Sheth, Stephan Grupp, Rupert Handgretinger, Puja Kohli, Daoyuan Shi, Leorah Ross, Yael Bobruff, Christopher Simard, Lanju Zhang, Phuong Khanh Morrow, William E Hobbs, Haydar Frangoul
BACKGROUND: Exagamglogene autotemcel (exa-cel) is a nonviral cell therapy designed to reactivate fetal hemoglobin synthesis through ex vivo clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 gene editing of the erythroid-specific enhancer region of BCL11A in autologous CD34+ hematopoietic stem and progenitor cells (HSPCs). METHODS: We conducted an open-label, single-group, phase 3 study of exa-cel in patients 12 to 35 years of age with transfusion-dependent β-thalassemia and a β0 /β0 , β0 /β0 -like, or non-β0 /β0 -like genotype...
April 24, 2024: New England Journal of Medicine
https://read.qxmd.com/read/38654385/angiostrongylus-cantonensis-induces-energy-imbalance-and-dyskinesia-in-mice-by-reducing-the-expression-of-melanin-concentrating-hormone
#2
JOURNAL ARTICLE
Hui Huang, Zhongyuan Zhang, Mengdan Xing, Zihan Jin, Yue Hu, Minyu Zhou, Hang Wei, Yiwen Liang, Zhiyue Lv
BACKGROUND: Infection with Angiostrongylus cantonensis (AC) in humans or mice can lead to severe eosinophilic meningitis or encephalitis, resulting in various neurological impairments. Developing effective neuroprotective drugs to improve the quality of life in affected individuals is critical. METHODS: We conducted a Gene Ontology enrichment analysis on microarray gene expression (GSE159486) in the brains of AC-infected mice. The expression levels of melanin-concentrating hormone (MCH) were confirmed through real-time quantitative PCR (RT-qPCR) and immunofluorescence...
April 23, 2024: Parasites & Vectors
https://read.qxmd.com/read/38654055/exploring-hematological-alterations-and-genetics-linked-to-snv-rs10974944-in-myeloproliferative-neoplasms-among-amazon-patients
#3
JOURNAL ARTICLE
Jhemerson F Paes, Dania G Torres, Deborah C Aquino, Emanuela V B Alves, Erycka A Mesquita, Miliane A Sousa, Nelson Abrahim Fraiji, Leny N M Passos, Rosângela S Abreu, George A V Silva, Andréa M Tarragô, Lucivana P de Souza Mourão
BCR::ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations. This study evaluated the association between the 46/1 haplotype and JAK2 V617F in patients with myeloproliferative neoplasms in a population from the Brazilian Amazon...
April 24, 2024: Scientific Reports
https://read.qxmd.com/read/38653553/a-novel-frameshift-mutation-hba2-c-337delc-associated-with-%C3%AE-thalassemia-trait-detected-by-next-generation-sequencing-in-southern-china
#4
JOURNAL ARTICLE
Lei Pan, Yan Wang, Haiying Lin, Xiufa Zhang, Rui Zhang
Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene ( HBA2 :c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and β-globin genes revealed a novel single base deletion at codon 112 ( HBA2 :c...
April 23, 2024: Hemoglobin
https://read.qxmd.com/read/38653421/integrative-investigation-of-hematotoxic-effects-induced-by-low-doses-of-lead-cadmium-mercury-and-arsenic-mixture-in-vivo-and-in-silico-approach
#5
JOURNAL ARTICLE
Katarina Živančević, Jovana Živanović, Katarina Baralić, Dragica Božić, Đurđica Marić, Dragana Vukelić, Evica Antonijević Miljaković, Aleksandra Buha Djordjević, Marijana Ćurčić, Zorica Bulat, Biljana Antonijević, Danijela Đukić-Ćosić
The effect of the lead (Pb), cadmium (Cd), mercury (Hg) and arsenic (As) mixture (MIX) on hematotoxicity development was investigated trough combined approach. In vivo subacute study (28 days) was performed on rats (5 per group): a control group and five groups orally exposed to increasing metal(loid) mixture doses, MIX 1- MIX 5 (mg/kg bw./day) (Pb: 0.003, 0.01, 0.1, 0.3, 1; Cd: 0.01, 0.03, 0.3, 0.9, 3; Hg: 0.0002, 0.0006, 0.006, 0.018, 0.06; As: 0.002, 0.006, 0.06, 0.18, 0.6). Blood was taken for analysis of hematological parameters and serum iron (Fe) analysis...
April 21, 2024: Science of the Total Environment
https://read.qxmd.com/read/38653356/calcium-signaling-induces-partial-emt-and-renal-fibrosis-in-a-wnt4-mcherry-knock-in-mouse-model
#6
JOURNAL ARTICLE
Florence Naillat, Ganga Deshar, Anni Hankkila, Aleksandra Rak-Raszewska, Abhishek Sharma, Renata Prunskaite-Hyyrylainen, Antti Railo, Jingdong Shan, Seppo J Vainio
The renal tubular epithelial cells (TEC) have a strong capacity for repair after acute injury, but when this mechanism becomes uncontrollable, it leads to chronic kidney diseases (CKD). Indeed, in progress toward CKDs, the TECs may dedifferentiate, undergo epithelial-to-mesenchyme transition (EMT), and promote inflammation and fibrosis. Given the critical role of Wnt4 signaling in kidney ontogenesis, we addressed whether changes in this signaling are connected to renal inflammation and fibrosis by taking advantage of a knock-in Wnt4mCh/mCh mouse...
April 21, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease
https://read.qxmd.com/read/38651415/maternal-diabetes-mellitus-and-neonatal-outcomes-in-bisha-a-retrospective-cohort-study
#7
JOURNAL ARTICLE
Abdullah Alshomrany, Elhadi Miskeen, Jaber Alfaifi, Hassan Alshamrani, Abdulmohsen Alshahrani
BACKGROUND: Maternal diabetes mellitus (MDM) is associated with increased risks for adverse neonatal outcomes. However, the impact of MDM on neonatal outcomes in Bisha, a city in Saudi Arabia, is not well documented. This study aims to investigate the impact of MDM on neonatal outcomes in the Maternity and Children's Hospital (MCH), Bisha, Saudi Arabia. METHODS: A retrospective cohort study was conducted on 181 pregnant women with diabetes and their neonates who were diagnosed at the Maternity and Children's Hospital (MCH), Bisha, Saudi Arabia, between 5 October 2020 and 5 November 2022...
April 15, 2024: Medical Sciences: Open Access Journal
https://read.qxmd.com/read/38650585/effect-of-cashew-nut-flour-on-hematological-parameters-of-children-living-with-hiv
#8
JOURNAL ARTICLE
Andressa Silva Costa, José de Ribamar Macedo Costa, Ana Vladia Bandeira Moreira, Marcelino Santos Neto, Virlane Kelly Lima Hunaldo, Floriacy Stabnow Santos, Márcio Flávio Moura de Araújo, Ana Cristina Pereira de Jesus Costa
Aim: To assess the effect of cashew nut flour on the hematological parameters of children living with HIV-AIDS. Method: A 32-week randomized, blind clinical trial conducted at a specialized outpatient clinic. Children aged 2-12 years were allocated to intervention groups (IGs) ( n  = 11) receiving 12 g/day of cashew nut flour and control groups (CGs) ( n  = 9) receiving 12 g/day of carboxymethyl cellulose. Parameters of erythrocytes, leukocytes, platelets, and lipid profiles were evaluated...
April 23, 2024: Nutrition and Health
https://read.qxmd.com/read/38649868/endoscopic-manifestation-of-intestinal-transplant-associated-microangiopathy-after-stem-cell-transplantation
#9
JOURNAL ARTICLE
Masaya Iwamuro, Daisuke Ennishi, Nobuharu Fujii, Ken-Ichi Matsuoka, Takehiro Tanaka, Toshihiro Inokuchi, Sakiko Hiraoka, Motoyuki Otsuka
BACKGROUND: Endoscopic features of intestinal transplant-associated microangiopathy (iTAM) have not been comprehensively investigated. This study aimed to examine the endoscopic characteristics of patients diagnosed with iTAM. METHODS: This retrospective analysis included 14 patients pathologically diagnosed with iTAM after stem cell transplantation for hematolymphoid neoplasms (n = 13) or thalassemia (n = 1). The sex, age at diagnosis, endoscopic features, and prognosis of each patient were assessed...
April 22, 2024: BMC Gastroenterology
https://read.qxmd.com/read/38648398/serum-peripheral-markers-for-inflammation-in-adolescents-with-anorexia-nervosa
#10
JOURNAL ARTICLE
Hatice Ünver, Beyzanur Gökçe Ceylan, Ayşe Burcu Erdoğdu Yıldırım, Neşe Perdahlı Fiş
Background: There is a limited number of studies comparing the levels of inflammation in adolescent patients with anorexia nervosa (AN) and healthy controls based on complete blood count and platelet parameters. Methods: This study is a retrospective cross-sectional analysis of 53 drug-naive patients with AN and 53 healthy controls. Results: Significant differences were observed for WBC (white blood cell), neutrophil, MCV (mean corpuscular volume), MCH (mean corpuscular haemoglobin) and neutrophils/lymphocytes ratio (NLR) between the study groups...
April 22, 2024: International Journal of Psychiatry in Clinical Practice
https://read.qxmd.com/read/38648181/developing-semiochemical-repellents-for-protecting-picea-from-dendroctonus-rufipennis-coleoptera-curculionidae-in-alaska-and-utah-usa
#11
JOURNAL ARTICLE
Jackson P Audley, Christopher J Fettig, Jason E Moan, Jessie Moan, Steve Swenson, A Steven Munson, Leif A Mortenson, Darren C Blackford, Elizabeth E Graham, Agenor Mafra-Neto
Spruce beetle, Dendroctonus rufipennis (Kirby) (Coleoptera: Curculionidae), is the most destructive pest of mature spruce (Picea) in western North America. Recent outbreaks in Alaska and other western US states highlight the need for tools to protect Picea from D. rufipennis. The primary antiaggregation pheromone of D. rufipennis (3-methylcyclohex-2-en-1-one, MCH) and various combinations of potential repellents (1-octen-3-ol, exo-brevicomin, endo-brevicomin, ipsdienol, ipsenol, limonene, and verbenone) were tested for their ability to disrupt the response of D...
April 22, 2024: Journal of Economic Entomology
https://read.qxmd.com/read/38644040/resistance-to-natural-tick-infestation-varies-with-age-and-coat-and-hair-traits-in-a-tropically-adapted-beef-cattle-breed
#12
JOURNAL ARTICLE
Natalya Gardezani Abduch, Henrique Gonçalves Reolon, Viviane Andrade Ligori, Rafael Medeiros de Oliveira Silva, Cecília José Veríssimo, Claudia Cristina Paro Paz, Nedenia Bonvino Stafuzza
Rhipicephalus (Boophilus) microplus causes considerable livestock production losses. Knowledge of the traits that influence tick resistance contributes to the development of breeding strategies designed to improve herd productivity. Within this context, this study evaluated the resistance of Caracu, a tropically adapted cattle breed, to R. microplus. Tick count, hair length, coat thickness, and coat color were evaluated in 202 naturally tick-infested females (cows and heifers) over a period of 18 months...
May 2024: Veterinary Parasitology (Amsterdam)
https://read.qxmd.com/read/38643957/innate-immune-response-of-snakehead-fish-to-snakehead-rhabdovirus-shrv-in-infection-and-the-infectivity-potential-of-the-virus-to-other-freshwater-fishes
#13
JOURNAL ARTICLE
Priyadharshini Michael, Sivasankar Panchavarnam, Chrisolite Bagthasingh, Subash Palaniappan, Rani Velu, Mohamed Mansoor Mohaideenpitchai, Mageshkumar Palraj, Selvamagheswaran Muthumariyapan, Evangelin Paripoorana David
A new virus known as snakehead rhabdovirus (SHRV-In) was discovered in South India in striped snakehead (Channa striata) that had hemorrhagic patches and cutaneous ulcerations. The virus is the most potentially harmful pathogen of snakehead because it could cause 100% mortality within 5 days. The goal of the current investigation was to evaluate the infectivity of rhabdovirus in freshwater fishes and to analyze the immune gene expression in snakehead fish after challenge with SHRV-In. The infectivity study of SHRV-In against three freshwater fish such as tilapia, grass carp and loach showed that the virus could not induce mortality in any of them...
April 19, 2024: Fish & Shellfish Immunology
https://read.qxmd.com/read/38640200/multicenter-phase-1-study-of-etavopivat-ft-4202-treatment-for-up-to-12-weeks-in-patients-with-sickle-cell-disease
#14
JOURNAL ARTICLE
Santosh L Saraf, Robert Ward Hagar, Modupe Idowu, Ifeyinwa Osunkwo, Kimberly Cruz, Frans A Kuypers, R Clark Brown, James Geib, Maria D Ribadeneira, Patricia Schroeder, Eric Wu, Sanjeev Forsyth, Patrick F Kelly, Theodosia A Kalfa, Marilyn J Telen
Etavopivat is an investigational, once-daily, oral, selective erythrocyte pyruvate kinase (PKR) activator. A multicenter, randomized, placebo-controlled, double-blind, 3-part, phase 1 study (https://clinicaltrials.gov/study/NCT03815695) was conducted to characterize the safety and clinical activity of etavopivat. Thirty-six patients with sickle cell disease (SCD) were enrolled into 4 cohorts: one single-dose; two multiple ascending doses; one open-label [OL]. In the OL cohort, 15 patients (median age 33.0 [range, 17‒55] years received 400-mg etavopivat once daily for 12 weeks; 14 completed treatment...
April 19, 2024: Blood Advances
https://read.qxmd.com/read/38639004/continuum-of-care-in-maternal-and-child-health-in-indonesia
#15
JOURNAL ARTICLE
Anu Rammohan, Srinivas Goli, Hoi Chu
AIM: This paper aims to empirically analyze the socioeconomic and demographic correlates of maternal and child health (MCH) care utilization in Indonesia using the continuum of care (CoC) concept. BACKGROUND: The concept of CoC has emerged as an important guiding principle in reproductive, maternal, newborn, and child health. Indonesia's maternal mortality rate, neonatal mortality, and under-five mortality rates are among the highest in the Southeast Asian region...
April 19, 2024: Primary Health Care Research & Development
https://read.qxmd.com/read/38638851/laboratory-blood-parameters-and-machine-learning-for-the-prognosis-of-esophageal-squamous-cell-carcinoma
#16
JOURNAL ARTICLE
Feng Lu, Linlan Yang, Zhenglian Luo, Qiao He, Lijuan Shangguan, Mingfei Cao, Lichun Wu
BACKGROUND: In contemporary study, the death of esophageal squamous cell carcinoma (ESCC) patients need precise and expedient prognostic methodologies. OBJECTIVE: To develop and validate a prognostic model tailored to ESCC patients, leveraging the power of machine learning (ML) techniques and drawing insights from comprehensive datasets of laboratory-derived blood parameters. METHODS: Three ML approaches, including Gradient Boosting Machine (GBM), Random Survival Forest (RSF), and the classical Cox method, were employed to develop models on a dataset of 2521 ESCC patients with 27 features...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38638645/diagnosis-and-classification-of-portosystemic-shunts-a-machine-learning-retrospective-case-control-study
#17
JOURNAL ARTICLE
Makan Farhoodimoghadam, Krystle L Reagan, Allison L Zwingenberger
Diagnosis of portosystemic shunts (PSS) in dogs often requires multiple diagnostic tests, and available clinicopathologic tests have limitations in sensitivity and specificity. The objective of this study was to train and validate a machine learning model (MLM) that can accurately predict the presence of a PSS utilizing routinely collected demographic data and clinicopathologic features. Dogs diagnosed with PSS or control dogs tested for PSS but had the condition ruled out (non-PSS) were identified. Dogs were included if a complete blood count and serum chemistry panel were available from PSS diagnostic testing...
2024: Frontiers in Veterinary Science
https://read.qxmd.com/read/38635647/understanding-the-uptake-and-determinants-of-prevention-of-mother-to-child-transmission-of-hiv-services-in-east-africa-mixed-methods-systematic-review-and-meta-analysis
#18
JOURNAL ARTICLE
Feleke Hailemichael Astawesegn, Haider Mannan, Virginia Stulz, Elizabeth Conroy
BACKGROUND: Prevention of mother-to-child transmission (PMTCT) of HIV service is conceptualized as a series of cascades that begins with all pregnant women and ends with the detection of a final HIV status in HIV-exposed infants (HEIs). A low rate of cascade completion by mothers' results in an increased risk of HIV transmission to their infants. Therefore, this review aimed to understand the uptake and determinants of key PMTCT services cascades in East Africa. METHODS: We searched CINAHL, EMBASE, MEDLINE, Scopus, and AIM databases using a predetermined search strategy to identify studies published from January 2012 through to March 2022 on the uptake and determinants of PMTCT of HIV services...
2024: PloS One
https://read.qxmd.com/read/38635104/correlation-between-erythrocyte-parameters-and-iron-status-in-cyclic-spanish-purebred-mares
#19
JOURNAL ARTICLE
Katiuska Satué, Esterina Fazio, Elena Damiá, Pietro Medica, Cristina Cravana
The aim of this study was to evaluate the serum iron status and its relation to hematological indexes in cyclic mares. Blood samples were taken from 40 Spanish Purebred mares on days - 5, 0, + 5 and + 16 of their cycle. Concentration of transferrin (TRF) was significantly lower on day 0 than on days + 5 and + 16, transferrin saturation (TSAT) decreased significantly on days 0 and + 16 compared to day - 5, total iron-binding capacity (TIBC) on day + 16 was significantly higher than those on days - 5 and 0, and on day + 5 it was also significantly higher than that on day 0, unsaturated iron-binding capacity (UIBC) was reduced on day + 16 compared to days - 5 and 0, red blood cell (RBC) count on day + 16 was higher than that on days - 5 and 0 (p < 0...
April 18, 2024: Veterinary Research Communications
https://read.qxmd.com/read/38633310/analysis-of-hematological-indicators-via-explainable-artificial-intelligence-in-the-diagnosis-of-acute-heart-failure-a-retrospective-study
#20
JOURNAL ARTICLE
Rustem Yilmaz, Fatma Hilal Yagin, Cemil Colak, Kenan Toprak, Nagwan Abdel Samee, Noha F Mahmoud, Amnah Ali Alshahrani
INTRODUCTION: Acute heart failure (AHF) is a serious medical problem that necessitates hospitalization and often results in death. Patients hospitalized in the emergency department (ED) should therefore receive an immediate diagnosis and treatment. Unfortunately, there is not yet a fast and accurate laboratory test for identifying AHF. The purpose of this research is to apply the principles of explainable artificial intelligence (XAI) to the analysis of hematological indicators for the diagnosis of AHF...
2024: Frontiers in Medicine
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