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JOURNAL ARTICLE
Nancy N Shahin, Olfat G Shaker, Mohamed O Mahmoud
Diabetes mellitus (DM) is a chronic disorder that affects nearly half a billion people around the world and causes millions of deaths annually. Treatment of diabetes or related complications represents an economic burden not only for developing countries but also for the developed ones. Hence, new efficient therapeutic and preventive strategies and screening tools are necessary. The current work aimed to assess the potential association of single nucleotide polymorphisms (SNPs) in ghrelin O-acyltransferase (GOAT) rs10096097, cyclic adenosine monophosphate (cAMP) response element binding protein (CREB) rs6740584, and v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (MafA) rs62521874 genes with type 2 DM susceptibility in Egyptians...
May 7, 2024: Archiv der Pharmazie
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JOURNAL ARTICLE
Jun Miyata, Hirotomo Yamanashi, Yoshinori Dake, Kenichi Nobusue, Yusuke Doi, Yukiko Honda, Fumiaki Nonaka, Kazuhiko Arima, Mami Tamai, Daisuke Sasaki, Yuji Shimizu, Hiroo Hasegawa, Takashi Kitaoka, Katsunori Yanagihara, Kiyoshi Aoyagi, Atsushi Kawakami, Takahiro Maeda
The magnitude of the effect of human T-lymphotropic virus 1 (HTLV-1) infection on uveitis remains unclear. We conducted a cross-sectional study in a highly endemic area of HTLV-1 in Japan. The study included 4265 residents (men, 39.2%), mostly middle-aged and older individuals with a mean age of 69.9 years, who participated in our surveys between April 2016 and September 2022. We identified HTLV-1 carriers by screening using chemiluminescent enzyme immunoassays and confirmatory tests, and the proportion of carriers was 16...
May 2024: Journal of Medical Virology
#3
JOURNAL ARTICLE
Dejan Jakimovski, Ryu P Dorn, Megan Del Regno, Alexander Bartnik, Niels Bergsland, Murali Ramanathan, Michael G Dwyer, Ralph H B Benedict, Robert Zivadinov, Kinga Szigeti
INTRODUCTION: CHRFAM7A , a uniquely human fusion gene, has been associated with neuropsychiatric disorders including Alzheimer's disease, schizophrenia, anxiety, and attention deficit disorder. Understanding the physiological function of CHRFAM7A in the human brain is the first step to uncovering its role in disease. CHRFAM7A was identified as a potent modulator of intracellular calcium and an upstream regulator of Rac1 leading to actin cytoskeleton reorganization and a switch from filopodia to lamellipodia implicating a more efficient neuronal structure...
2024: Frontiers in Neuroscience
#4
JOURNAL ARTICLE
Jianting Gao, Yingsai Fan, Chenyue Lu, Xinghua Zhao, Xin He
Baicalein (BAI) is a natural flavonoid with antioxidant, antitumor and antibacterial properties. However, the bioavailability of BAI was limited due to low solubility. This study aims to improve the solubility of BAI through the amorphous solid dispersion (ASD) and evaluate changes in its pharmacokinetics and pharmacodynamics in Taihang chickens. Polyethylene caprolactam-polyvinyl acetate-polyethylene glycol grafted copolymer (Soluplus) was chosen as the carrier, and ASD was prepared by rotary evaporation and was characterized by powder X-ray diffractions (PXRD), differential scanning calorimetry (DSC) and fourier transform infrared spectroscopy (FT-IR)...
April 12, 2024: Poultry Science
#5
JOURNAL ARTICLE
Hua Tang, Rong Yu, Ziyin Yu, Hui Xi
BACKGROUND: Carrier screening is the most effective method to block the occurrence of thalassemia. However, due to differences in race and genotype, MCV, MCH, HbA2 and other indicators are far from each other. The purpose of this study is to evaluate the common screening indicators of a, b and ab-compound thalassemia carriers in Hunan Province, and try to use the relevant formulas in the existing literature to predict and distinguish different types of thalassemia carriers. METHODS: Receiver operating characteristic curve (ROC curve) combined with Youden index was utilized to analyze results of blood routine examination, hemoglobin electrophoresis, and literature-related formulas for 1111 a-thalassemia carriers, 464 b-thalassemia carriers and 24 ab-thalassemia carriers...
April 23, 2024: Journal of Medical Biochemistry
#6
JOURNAL ARTICLE
Utsav Surati, Saket Kumar Niranjan
A stop-gain mutation (rs715966442; BTA11: 1,02,463,944 nucleotide position) in transcription termination factor, RNA polymerase I (TTF1) gene causes abortion in Holstein Friesian (HF) cattle. A PCR-restriction fragment length polymorphism (PCR-RFLP)-based genetic test has been developed and validated to screen the TTF1 mutation locus in HF cattle. The mutation locus was screened in 80 HF and HF crossbreds using the protocol, which revealed two animals as carriers of the mutant TTF1 allele. The test employed is cost-effective, rapid and precise and can be utilized as an effective tool for the screening of TTF1 mutation carriers in HF cattle population...
May 2024: Reproduction in Domestic Animals
#7
JOURNAL ARTICLE
Michal Pruski
No abstract text is available yet for this article.
May 2, 2024: Journal of Medical Ethics
#8
JOURNAL ARTICLE
Alexis Heng Boon Chin, Jean-Didier Bosenge Nguma, Mohd Faizal Ahmad
Germline genome editing of IVF embryos is controversial because it is not directly health or lifesaving but is intended to prevent genetic diseases in yet-unborn future offspring. The following criteria are thus proposed for future clinical trials: (i) Due to medical risks, there should be cautious and judicious application while avoiding any non-essential usage, with rigorous patient counseling. (ii) Genome editing should only be performed on the entire batch of IVF embryos without initial PGT screening if all of them are expected to be affected by genetic disease...
May 2, 2024: Journal of Assisted Reproduction and Genetics
#9
JOURNAL ARTICLE
Denise M Kay, Hossein Sadeghi, Catherine Kier, Maria Berdella, Joan K DeCelie-Germana, Zafer N Soultan, Danielle M Goetz, Michele Caggana, Christopher N Fortner, Robert Giusti, Robert Kaslovsky, Colleen Stevens, Karen Voter, John J Welter, Elinor Langfelder-Schwind
BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers...
May 2, 2024: Pediatric Pulmonology
#10
JOURNAL ARTICLE
Mat Jusoh Siti Asmaa, Lee Miin Phoon, Nur Atikah Zakaria, Suryati Hussin, Rosnah Bahar, Mohd Nazri Hassan, Zefarina Zulkafli, Salfarina Iberahim, Marne Abdullah, Noor Haslina Mohd Noor, Shafini Mohamed Yusoff, Marini Ramli
Background Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (αCD59 ), leading to the production of unstable α-globin. Clinical manifestations can vary from silent carrier status to dependence on blood transfusions, hepatosplenomegaly, skeletal deformities, and spinal cord compression. Despite the significance of Hb Adana inheritance, studying this variant poses challenges due to the scarcity of molecular tests and the potential for routine diagnoses to be overlooked...
March 2024: Curēus
#11
JOURNAL ARTICLE
Marcello Polesel, Mattheus H E Wildschut, Cédric Doucerain, Michael Kuhn, Anna Flace, Anna-Lena Steck, Maria Wilhelm, Alvaro Ingles-Prieto, Tabea Wiedmer, Giulio Superti-Furga, Vania Manolova, Franz Dürrenberger
Iron is a trace element that is critical for most living organisms and plays a key role in a wide variety of metabolic processes. In the mitochondrion, iron is involved in producing iron-sulfur clusters and synthesis of heme and kept within physiological ranges by concerted activity of multiple molecules. Mitochondrial iron uptake is mediated by the solute carrier transporters Mitoferrin-1 (SLC25A37) and Mitoferrin-2 (SLC25A28). While Mitoferrin-1 is mainly involved in erythropoiesis, the cellular function of the ubiquitously expressed Mitoferrin-2 remains less well defined...
April 29, 2024: Mitochondrion
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JOURNAL ARTICLE
Xiaoyu Yan, Shuheng Zhao, Jianjun Hu, Jiatao Dang, Sen Yao, Junmeng Cai, Sureewan Sittijunda, Wei Wang, Duu-Jong Lee, Panbo Yang
This study aims to apply the Absorbing oxygen carriers (AOCs) to induce the migration and transformation of phosphorus compounds during the microwave thermal conversion of sludge so the hard-to-extract organic phosphorus (OP) can be converted to easy-to-extract inorganic phosphorus (IP) and be enriched onto the sludge char. The AOCs were recycled by screen separation from the IP-rich sludge char, with the latter being a renewable phosphorus source from sludge. The AOCs in this novel process enhanced the conversion efficiency of OP into non-apatite inorganic phosphorus (NAlP), which was further converted to apatite inorganic phosphorus (AP)...
April 29, 2024: Bioresource Technology
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JOURNAL ARTICLE
Fang Peng, Jiashu Liu, Jiapeng Ping, Yuji Dong, Liuan Xie, Yishan Zhou, Lipei Liao, Huiting Song
High concentration of phenol residues in soil are harmful to human health and ecological safety. However, limited information is available on the in-situ bioremediation of phenol-contaminated soil using biochar as a carrier for bacteria. In this study, bamboo -derived biochar was screened as a carrier to assemble microorganism-immobilized composite with Rhodococcus pyridinivorans B403. Then, SEM used to observe the micromorphology of composite and its bioactivity was detected in solution and soil. Finally, we investigated the effects of free B403 and biochar-immobilized B403 (BCJ) on phenol biodegradation in two types of soils and different initial phenol concentrations...
April 30, 2024: Environmental Science and Pollution Research International
#14
JOURNAL ARTICLE
Guosong Shen, Lin Zou, Wenwen Li, Kefeng Tang, Yaqin Zhang, Zhongying Ding, Xueping Shen
OBJECTIVE: To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province. METHODS: One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited diseases. Candidate variants were verified by Sanger sequencing...
May 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#15
JOURNAL ARTICLE
Olivia Wagemann, Haiyan Liu, Guoqiao Wang, Xinyu Shi, Tobias Bittner, Marzia A Scelsi, Martin R Farlow, David B Clifford, Charlene Supnet-Bell, Anna M Santacruz, Andrew J Aschenbrenner, Jason J Hassenstab, Tammie L S Benzinger, Brian A Gordon, Kelley A Coalier, Carlos Cruchaga, Laura Ibanez, Richard J Perrin, Chengjie Xiong, Yan Li, John C Morris, James J Lah, Sarah B Berman, Erik D Roberson, Christopher H van Dyck, Douglas Galasko, Serge Gauthier, Ging-Yuek R Hsiung, William S Brooks, Jérémie Pariente, Catherine J Mummery, Gregory S Day, John M Ringman, Patricio Chrem Mendez, Peter St George-Hyslop, Nick C Fox, Kazushi Suzuki, Hamid R Okhravi, Jasmeer Chhatwal, Johannes Levin, Mathias Jucker, John R Sims, Karen C Holdridge, Nicholas K Proctor, Roy Yaari, Scott W Andersen, Michele Mancini, Jorge Llibre-Guerra, Randall J Bateman, Eric McDade
IMPORTANCE: Effects of antiamyloid agents, targeting either fibrillar or soluble monomeric amyloid peptides, on downstream biomarkers in cerebrospinal fluid (CSF) and plasma are largely unknown in dominantly inherited Alzheimer disease (DIAD). OBJECTIVE: To investigate longitudinal biomarker changes of synaptic dysfunction, neuroinflammation, and neurodegeneration in individuals with DIAD who are receiving antiamyloid treatment. DESIGN, SETTING, AND PARTICIPANTS: From 2012 to 2019, the Dominantly Inherited Alzheimer Network Trial Unit (DIAN-TU-001) study, a double-blind, placebo-controlled, randomized clinical trial, investigated gantenerumab and solanezumab in DIAD...
April 29, 2024: JAMA Neurology
#16
JOURNAL ARTICLE
Ran Yan, Wakana Murakami, Shabnam Mortazavi, Tiffany Yu, Fang-I Chu, Stephanie Lee-Felker, Kyunghyun Sung
OBJECTIVES: To compare the quantitative background parenchymal enhancement (BPE) in women with different lifetime risks and BRCA mutation status of breast cancer using screening MRI. MATERIALS AND METHODS: This study included screening MRI of 535 women divided into three groups based on lifetime risk: nonhigh-risk women, high-risk women without BRCA mutation, and BRCA1/2 mutation carriers. Six quantitative BPE measurements, including percent enhancement (PE) and signal enhancement ratio (SER), were calculated on DCE-MRI after segmentation of the whole breast and fibroglandular tissue (FGT)...
April 29, 2024: European Radiology
#17
JOURNAL ARTICLE
Jean-François D Cadranel, Honoré T Zougmoré, Jean-René Ngele Efole, Bertrand Hanslik, Xavier Causse, Isabelle Rosa, Caroline Lemaitre, Camélia Mokhtari, Aurore Baron, Thierry Thevenot, Mourad Medmoun, Ryad Smadhi, Gildas Fantognon, André J Remy, Gilles Macaigne, Yves Arondel, Jean-Pierre Arpurt, Guy Bellaiche, Marc Bourlière, Caroline De Kerguenec, Frédéric Heluwaert, Juliette Verlynde, Philippe Halfon, Dominique Roulot, Paul Carrier, Véronique Loustaud-Ratti, Tristan Lemagoarou
BACKGROUND: Data on the management of Hepatitis B-Delta (HB-D) by hepatogastroenterologists (HGs) practicing in nonacademic hospitals or private practices are unknown in France. OBJECTIVE: We aimed to evaluate the knowledge and practices of HGs practicing in nonacademic settings regarding HB-D. METHODS: A Google form document was sent to those HGs from May to September 2021. RESULTS: A total of 130 HGs (mean age, 45 years) have participated in this survey...
June 1, 2024: European Journal of Gastroenterology & Hepatology
#18
JOURNAL ARTICLE
Iben Møller-Hansen, Javier Sáez-Sáez, Steven A van der Hoek, Jane D Dyekjær, Hanne B Christensen, Marina Wright Muelas, Steve O'Hagan, Douglas B Kell, Irina Borodina
The exchange of small molecules between the cell and the environment happens through transporter proteins. Besides nutrients and native metabolic products, xenobiotic molecules are also transported, however it is not well understood which transporters are involved. In this study, by combining exo-metabolome screening in yeast with transporter characterization in Xenopus oocytes, we mapped the activity of 30 yeast transporters toward six small non-toxic substrates. Firstly, using LC-MS, we determined 385 compounds from a chemical library that were imported and exported by S...
2024: Frontiers in Microbiology
#19
JOURNAL ARTICLE
Ludovico Graziani, Sara Nuovo, Elisa Pisaneschi, Miriam Lucia Carriero, Leila Baghernajad Salehi, Anna Maria Nardone, Lucia Manganaro, Antonio Novelli, Maria Rosaria D'Apice, Ilenia Mappa, Giuseppe Novelli
OBJECTIVE: Holoprosencephaly (HPE) is the most common aberration of forebrain development, and it leads to a wide spectrum of developmental and craniofacial anomalies. HPE etiology is highly heterogeneous and includes both chromosomal abnormalities and single-gene defects. METHODS: Here, we report an FGFR1 heterozygous variant detected by prenatal exome sequencing and inherited from the asymptomatic mother, in association with recurrent neurological abnormalities in the HPE spectrum in two consecutive pregnancies...
December 2024: Journal of Maternal-fetal & Neonatal Medicine
#20
JOURNAL ARTICLE
Elise Bouthry, Vincent Portet-Sulla, Melek Manai Bouokazi, Claire Périllaud-Dubois, François-Charles Javaugue, Laure Jule, Claire Boithias, Nolwenn Le Saché, Mostafa Mokhtari, Diane Carrière, Louise Sonnier, Rafik Benammar, Alexandra Letourneau, Alexandre J Vivanti, Anne-Gaël Cordier, Emmanuelle Letamendia-Richard, Christelle Vauloup-Fellous
Neonatal herpes simplex virus (HSV) infection (HSV infection in infants less than 6 weeks of age) is rare but mortality and morbidity rates are high after disseminated disease and encephalitis. In France, the epidemiology is poorly described, and two decades ago, incidence was estimated to be 3 per 100,000 live births a year. We describe determinants, epidemiologic and clinical characteristics of neonatal HSV infection in a managed-care population attending in two major obstetric and paediatric centres, Paris, France, over a 10-year period...
April 27, 2024: European Journal of Pediatrics
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