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JOURNAL ARTICLE
Sara Norozipor, Mehdi Bamorovat, Seyyed Amin Ayatollahi Mosavi, Ehsan Salarkia, Sanaz Hadizadeh, Fatemeh Sharifi, Ali Karamoozian, Mehdi Ranjbar, Setareh Agha Kuchak Afshari
INTRODUCTION: Since the drug resistance in Candida species is becoming a serious clinical challenge, novel alternative therapeutic options, particularly herbal medicine, have attracted increasing interest. This study aimed to pinpoint the potential antifungal activity of crocin (Cro), the efficacy of the niosomal formulation of Cro (NCro), and the synergistic activity of both formulations in combination with fluconazole (FLC) against susceptible and resistant C. albicans isolates. MATERIAL AND METHODS: NCro was formulated using the heating method...
April 3, 2024: Journal de Mycologie Médicale
#22
JOURNAL ARTICLE
Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min Li
Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022...
April 6, 2024: Biochemical Genetics
#23
JOURNAL ARTICLE
Fatos Dilan Koseoglu, Fatma Keklik Karadag, Hale Bulbul, Erdem Ugur Alici, Berk Ozyilmaz, Taha Resid Ozdemir
The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing...
April 5, 2024: Medicine (Baltimore)
#24
JOURNAL ARTICLE
Xiangchun Yang, Shuxia Ding, Jianping Zhang, Zhuojie Hu, Danyan Zhuang, Fei Wang, Shanshan Wu, Changshui Chen, Haibo Li
BACKGROUND: Neonatal screening for inherited metabolic diseases (IMDs) has been revolutionized by tandem mass spectrometry (MS/MS). This study aimed to enhance neonatal screening for IMDs using machine learning (ML) techniques. METHODS: The study involved the analysis of a comprehensive dataset comprising 309,102 neonatal screening records collected in the Ningbo region, China. An advanced ML system model, encompassing nine distinct algorithms, was employed for the purpose of predicting the presence of 31 different IMDs...
2024: Frontiers in Pediatrics
#25
JOURNAL ARTICLE
Sajan Sinha, Atanu Kumar Dutta, Paramita Bhattacharya, Subham Bhattacharya, Mrinal Kanti Das
UNLABELLED: There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of genotype-phenotype correlation. A prospective, institution-based, observational study was conducted at the Department of Paediatric Medicine, including 103 children aged up to 12 years...
April 2024: Indian Journal of Clinical Biochemistry: IJCB
#26
JOURNAL ARTICLE
Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang, Zhiwei Liu
BACKGROUND: Traditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive values, which are not conducive to early diagnosis and increase parents' anxiety. This study analysed the relationship between gene variant carriers and their biochemical indicators in traditional biochemical screening, aiming to find explanations for false positives in newborns. RESULTS: This retrospective study included 962 newborns...
April 4, 2024: Orphanet Journal of Rare Diseases
#27
JOURNAL ARTICLE
Celia Diez de Los Rios de la Serna, Maria Teresa Lluch-Canut, Maria Paz Fernández-Ortega
OBJECTIVES: There is limited evidence on health promotion interventions in people with hereditary cancer syndromes or on their main sources of support and information. This study aimed to understand these patients' experiences and needs, including their information needs, their views on prevention and mental health, and the support they want from nurses. METHODS: This qualitative study included 22 people (8 previvors and 14 survivors) with hereditary breast and ovarian syndrome or Lynch syndrome from 10 European countries...
April 3, 2024: Seminars in Oncology Nursing
#28
JOURNAL ARTICLE
Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod
BACKGROUND: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype. METHODS: Observational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database...
April 4, 2024: Journal of Medical Genetics
#29
JOURNAL ARTICLE
Alexandre Brudon, Marie Legendre, Arthur Mageau, Julien Bermudez, Philippe Bonniaud, Diane Bouvry, Jacques Cadranel, Aurélie Cazes, Bruno Crestani, Tristan Dégot, Céline Delestrain, Rémi Diesler, Ralph Epaud, Quentin Philippot, Nathalie Theou-Anton, Caroline Kannengiesser, Ibrahima Ba, Marie-Pierre Debray, Pascale Fanen, Efrosine Manali, Spyros Papiris, Nadia Nathan, Serge Amselem, Antoine Gondouin, Anne Guillaumot, Claire Andréjak, Stephane Jouneau, Guillaume Beltramo, Yurdagul Uzunhan, François Galodé, Virginie Westeel, Anas Mehdaoui, Sandrine Hirschi, Sylvie Leroy, Sylvain Marchand-Adam, Hilario Nunes, Clément Picard, Grégoire Prevot, Martine Reynaud-Gaubert, Paul De Vuyst, Lidwine Wemeau, Gautier Defossez, Gérard Zalcman, Vincent Cottin, Raphael Borie
RATIONALE: Several rare surfactant-related genes variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. OBJECTIVES: We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of surfactant-related gene (SRG) variant carriers. METHODS: We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomerase-related gene (TRG) variant carriers...
April 4, 2024: European Respiratory Journal
#30
JOURNAL ARTICLE
Adithya Christopher Godfred, Zachariah Thomas, Dincy Peter, Anjana Joseph, Lavanya Ravichandran, Anu Anna George, Susanne A Pulimood, Pranay Gaikwad, Ramesh Babu, Meera Thomas, Nihal Thomas, Aaron Chapla
Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis due to mutations in EVER1 and EVER2 genes. The genetic profile of Indian patients with EV has not been previously studied. This report describes the clinical presentation and molecular analysis of a family with EV. Using genomic DNA from two affected probands and healthy controls (two other siblings), conventional polymerase chain reaction (PCR) was conducted with novel primer sets designed to amplify the coding and splice-site regions in the genes EVER1 and EVER 2...
April 4, 2024: American Journal of Dermatopathology
#31
REVIEW
Enpeng Dong, Qingqing Huo, Jie Zhang, Hanghang Han, Ting Cai, Dongfei Liu
Nanoscale preparations, such as nanoparticles, micelles, and liposomes, are increasingly recognized in pharmaceutical technology for their high capability in tailoring the pharmacokinetics of the encapsulated drug within the body. These preparations have great potential in extending drug half-life, reducing dosing frequency, mitigating drug side effects, and enhancing drug efficacy. Consequently, nanoscale preparations offer promising prospects for the treatment of metabolic disorders, malignant tumors, and various chronic diseases...
April 4, 2024: Drug Delivery and Translational Research
#32
JOURNAL ARTICLE
Yuan Mi, Liying Chen, Cong Wang, Yuxin Miao, Chuntao Song, Jie Su, Lei Wang
Aurora kinase A, as a pro-carcinogenic in gastric cancer and glioma kinase, is enhanced in several human tumors. However, it's regulatory mechanism in esophageal squamous cell carcinoma (ESCC) remains unclear. Thus, this study aimed to investigate the expression status, functional roles, and molecular mechanisms of AURKA in ESCC development. AURKA expression was analyzed by the screening of the GEO database and detected using an immunohistochemical method. The biological function of AURKA on ESCC was evaluated in vitro and in vivo...
April 15, 2024: Heliyon
#33
JOURNAL ARTICLE
Qiannan Li, Linyu Mei, Kaixi Bi, Liuyu Hou, Shuai Zhang, Shuqi Han, Miaoli Guo, Shengguo Zhang, Dianyu Wu, Jiliang Mu, Xiujian Chou
The gate-tunable absorption properties of graphene make it suitable for terahertz (THz) absorbers. However, the realization of a graphene-based THz absorber faces challenges between the difficulty of patterning graphene for processing and the intrinsically low absorbance of graphene with the high electric field needed to change the conductivity of graphene. This report presents an electrically tunable graphene THz absorber where a single-layer graphene film and a gold reflective layer are separated by a polyimide (PI) dielectric layer to form an easily fabricated three-layer Salisbury screen structure...
March 25, 2024: Optics Express
#34
REVIEW
L Gabriel, T McVeigh, S Macmahon, Z Avila, L Donovan, I Hunt, A Draper, A Minchom, S Popat, M Davidson, J Bhosle, C Milner Watts, M Hubank, L Yuan, Mer O'Brien
BACKGROUND: Interest in hereditary lung cancer is increasing, in particular germline mutations in the Epidermal Growth Factor Receptor (EGFR) gene. We review the current literature on this topic, discuss risk of developing lung cancer, treatment and screening options and describe a family of 3 sisters with lung cancer and their unaffected mother all with a rare EGFR germline mutation (EGFR p.R776H). METHODS: We searched PubMed, Medline, Embase, the Cochrane Library, Google Scholar and scanned reference lists of articles...
March 30, 2024: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
#35
JOURNAL ARTICLE
Zhiyuan Wu, Qingyun Zhang, Yiting Jin, Xinju Zhang, Yanli Chen, Can Yang, Xuemei Tang, Haowen Jiang, Xiaoyi Wang, Xinli Zhou, Feng Yu, Bing Wang, Ming Guan
BACKGROUND: Deleterious BRCA1/2 (BRCA) mutation raises the risk for BRCA mutation-related malignancies, including breast, ovarian, prostate, and pancreatic cancer. Germline variation of BRCA exhibits substantial ethnical diversity. However, there is limited research on the Chinese Han population, constraining the development of strategies for BRCA mutation screening in this large ethnic group. METHODS: We profile the BRCA mutational spectrum, including single nucleotide variation, insertion/deletion, and large genomic rearrangements in 2,080 apparently healthy Chinese Han individuals and 522 patients with BRCA mutation-related cancer, to determine the BRCA genetic background of the Chinese Han population, especially of the East Han...
April 2, 2024: BMC Cancer
#36
JOURNAL ARTICLE
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].
Xinyun Zhu, Yizhuo Xu, Jie Zhang, Xiaole Li, Jingwen He, Chenlu Jia, Shubo Lyu, Suna Liu, Yanbo Gao, Kun Ma, Yunjia Ouyang, Yihui Ren, Dehua Zhao
OBJECTIVE: To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China. METHODS: A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing...
April 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#37
JOURNAL ARTICLE
Ke Zhou, Martine Bellanger, Louise Crivelli, Sandy Laham, Charlotte Huet, Caroline Abadie
BACKGROUND: Risk management programs targeting women with genetic predispositions to breast cancer (BC), eg, BRCA1 and BRCA2, are effective assuming full adherence with the program protocol. However, high risk to BC in women and equal access to care may not result in high and uniform adherence with the program. OBJECTIVE: To elucidate factors influencing adherence with screening program in women with genetic predispositions to BC. MATERIAL AND METHODS: We retrieved data from a multicenter pathogenic-related BC surveillance program across 4 French regions...
April 2, 2024: Oncologist
#38
JOURNAL ARTICLE
Jian-Hui Zhang, Ai-Ping Lin, Li Zhang, Dan-Dan Ruan, Mei-Zhu Gao, Qian Chen, Hong-Ping Yu, Li-Sheng Liao, Xin-Fu Lin, Zhu-Ting Fang, Fan Lin, Shi-Yun Lu, Jie-Wei Luo, Xiao-Ling Zheng, Meng-Shi Chen
BACKGROUND: Cholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to be an autosomal recessive allelic genetic condition connected to diminished lysosomal acid lipase (LAL) activity due to LIPA gene abnormalities. CESD is characterized by abnormal liver function and lipid metabolism, and in severe cases, liver failure can occur leading to death. In this study, one Chinese nonclassical CESD pedigree with dominant inheritance was phenotyped and analyzed for the corresponding gene alterations...
April 2, 2024: Digestive Diseases and Sciences
#39
JOURNAL ARTICLE
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang
BACKGROUND: To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. METHODS: The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high-risk parents, and the clinical outcome of high-risk parents were statistically analyzed...
April 2024: Molecular Genetics & Genomic Medicine
#40
JOURNAL ARTICLE
Wei-Ju Su, Huey-Ling Chen, Shu-Fong Chen, Yu-Lun Liu, Ting-Ann Wang, Yee-Chuan Ho, Mei-Hwei Chang
BACKGROUND: Evaluation of the impact on mother-to-child transmission (MTCT) of a HBV-prevention program that incorporates maternal antiviral prophylaxis is hindered by the limited availability of real-world data. METHODS: This study analyzed data on maternal HBV screening, neonatal immunization, and post-vaccination serologic testing (PVST) for HBsAg among at-risk infants born to HBV carrier mothers from the National Immunization Information System during 01/01/2008-31/12/2022...
April 2, 2024: Clinical Infectious Diseases
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