keyword
https://read.qxmd.com/read/38547503/revealing-the-genetic-diversity-of-chinese-chlamydia-trachomatis-strains-directly-from-clinical-samples-through-selective-whole-genome-amplification
#1
JOURNAL ARTICLE
Wentao Chen, Chuchan Zhou, Xin Su, Xiaona Yin, Weixi Yuan, Chuncai Hu, Wei Zhao
BACKGROUND: Chlamydia trachomatis is the causative agent of most prevalent bacterial sexually transmitted infection globally. Whole-genome sequencing is essential for molecular Chlamydia surveillance; however, its application is hampered by the pathogen's low abundance in clinical specimens and the expensive, labor-intensive nature of existing enrichment methodologies for Chlamydia. METHODS: We developed a targeted whole-genome amplification tool termed SWTICH, by integrating phi29 DNA polymerase-mediated amplification with meticulously designed primer sets to enrich Chlamydia trachomatis genome, followed by whole-genome sequencing...
March 28, 2024: Journal of Infectious Diseases
https://read.qxmd.com/read/38547465/tackling-access-and-payer-barriers-for-growth-hormone-therapy-in-saudi-arabia-a-consensus-statement-for-the-saudi-working-group-for-pediatric-endocrinology
#2
REVIEW
Najya Attia, Khairya Moussa, Abdulaziz Altwaim, Abdulmoein Eid Al-Agha, Ashraf A Amir, Aseel Almuhareb
Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively. Several access and payer barriers can face pediatric endocrinologists during the diagnosis and treatment of GHD in Saudi Arabia...
March 29, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38545603/advancing-genetic-testing-for-neurological-disorders-in-tanzania-importance-challenges-and-strategies-for-implementation
#3
JOURNAL ARTICLE
Mohamed Zahir Alimohamed, Angela Augustine Siima, Mohamed Manji
This manuscript discusses the critical need for advancing genetic testing capabilities for neurological disorders (NDs) in Tanzania, emphasizing the importance, challenges, and strategies for implementation. Neurological disorders, often caused by a complex interplay of genetic and environmental factors, disproportionately affect low and middle-income countries like Tanzania. Patients with neurogenetic diagnoses in Tanzania face substantial obstacles, including lack of trust in medical professionals, stigmatization, and limited access to proper care...
2024: Frontiers in Neuroscience
https://read.qxmd.com/read/38541982/current-state-of-molecular-cytology-in-thyroid-nodules-platforms-and-their-diagnostic-and-theranostic-utility
#4
REVIEW
Zeina C Hannoush, Roberto Ruiz-Cordero, Mark Jara, Atil Y Kargi
The high prevalence of thyroid nodules and increased availability of neck ultrasound have led to an increased incidence of diagnostic thyroid fine needle aspirations, with approximately 20% yielding indeterminate results. The recent availability of molecular tests has helped guide the clinical management of these cases. This paper aims to review and compare three main commercially available molecular cytology platforms in the U.S.-Afirma GSC, Thyroseq GC, and ThyGeNEXT + ThyraMIR. Sequential improvements of the Afirma GSC and Thyroseq GC tests have increased positive and negative predictive values, sensitivity, and specificity...
March 19, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38540770/sulforaphane-enriched-extracts-from-broccoli-exhibit-antimicrobial-activity-against-plant-pathogens-promising-a-natural-antimicrobial-agent-for-crop-protection
#5
JOURNAL ARTICLE
Lixia He, Hanmin Jiang, Yaotong Li, Xu Zhang, Wenting Sun, Ce Liu, Zekai Zhao, Chengrong Yun, Hui Li, Chunguo Wang
Sulforaphane (SFN) is one of the hydrolysates of glucosinolates (GSLs), primarily derived from Brassica vegetables like broccoli. In clinical therapy, SFN has been proven to display antimicrobial, anticancer, antioxidant, and anti-inflammatory properties. However, the antimicrobial effects and mechanism of SFN against plant pathogens need to be further elucidated, which limits its application in agriculture. In this study, the genetic factors involved in SFN biosynthesis in 33 B. oleracea varieties were explored...
March 14, 2024: Biomolecules
https://read.qxmd.com/read/38538877/the-brca-mutation-spectrum-among-breast-and-ovarian-cancers-in-india-highlighting-the-need-to-screen-brca1-185delag-among-south-indians
#6
JOURNAL ARTICLE
Ajoy Oommen John, Ashish Singh, Pratibha Yadav, Anjana Joel, Divya Bala Thumaty, K Fibi Ninan, Josh Thomas Georgy, Anish Jacob Cherian, Shawn Thomas, Anitha Thomas, Vinotha Thomas, Abraham Peedicayil, Deny Varghese, R Parthiban, Lavanya Ravichandran, Jabasteen Johnson, Nihal Thomas, Bijesh Yadav, S Patricia, B Selvamani, Deepak Abraham, M J Paul, Raju Titus Chacko, Aaron Chapla
Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies...
March 28, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38537326/a-regionally-based-precision-medicine-implementation-initiative-in-north-africa-the-permedina-consortium
#7
JOURNAL ARTICLE
Yosr Hamdi, Maroua Boujemaa, Jihenne Ben Aissa-Haj, Fouzia Radouani, Meriem Khyatti, Najah Mighri, Mariem Hannachi, Kais Ghedira, Oussema Souiai, Chaima Hkimi, Mohamed Selim Kammoun, Nesrine Mejri, Hanen Bouaziz, Mohamed Amine Beloufa, Hicham Charoute, Abdelhamid Barakat, Imène Najjar, Hiroaki Taniguchi, Natalia Pietrosemoli, Koussay Dellagi, Sonia Abdelhak, Mohamed Samir Boubaker, Claudia Chica, Etienne Rouleau
Precision Medicine is being increasingly used in the developed world to improve health care. While several Precision Medicine (PM) initiatives have been launched worldwide, their implementations have proven to be more challenging particularly in low- and middle-income countries. To address this issue, the "Personalized Medicine in North Africa" initiative (PerMediNA) was launched in three North African countries namely Tunisia, Algeria and Morocco. PerMediNA is coordinated by Institut Pasteur de Tunis together with the French Ministry for Europe and Foreign Affairs, with the support of Institut Pasteur in France...
March 26, 2024: Translational Oncology
https://read.qxmd.com/read/38536670/tyrosinase-modified-uhmw-selp-polymers-as-wet-and-underwater-adhesives-to-achieve-multi-interface-adhesion
#8
JOURNAL ARTICLE
Wenxin Huang, Sijia Wang, Zhaoxuan Feng, Dasen Zhou, Wenqin Bai
The presence of a hydration layer in humid and underwater environments challenges adhesive-substrate interactions and prevents effective bonding, which has become a significant obstacle to the development of adhesives in the industrial and biomedical fields. In this study, ultrahigh-molecular-weight (UHMW) silk-elastin-like proteins (SELP) with 3,4-dihydroxyphenylalanine (DOPA) converted from tyrosine residues by tyrosinase exhibited excellent adhesive properties on different interfaces, such as glass, aluminum, wood, polypropylene sheets, and pigskin, under both dry and wet conditions...
March 27, 2024: ACS Synthetic Biology
https://read.qxmd.com/read/38533877/carrier-screening-and-diagnosis-for-spinal-muscular-atrophy-using-droplet-digital-pcr-versus-mlpa-analytical-validation-and-early-test-outcome
#9
JOURNAL ARTICLE
Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes...
March 27, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38533454/spider-webs-capture-environmental-dna-from-terrestrial-vertebrates
#10
JOURNAL ARTICLE
Joshua P Newton, Paul Nevill, Philip W Bateman, Matthew A Campbell, Morten E Allentoft
Environmental DNA holds significant promise as a non-invasive tool for tracking terrestrial biodiversity. However, in non-homogenous terrestrial environments, the continual exploration of new substrates is crucial. Here we test the hypothesis that spider webs can act as passive biofilters, capturing eDNA from vertebrates present in the local environment. Using a metabarcoding approach, we detected vertebrate eDNA from all analyzed spider webs (N = 49). Spider webs obtained from an Australian woodland locality yielded vertebrate eDNA from 32 different species, including native mammals and birds...
February 16, 2024: IScience
https://read.qxmd.com/read/38533287/role-of-genetic-testing-in-the-management-of-indeterminate-thyroid-nodules-in-the-indian-setting
#11
REVIEW
Jeyashanth Riju, Nihal Thomas, Thomas V Paul, Deepak Thomas Abraham, Rekha Pai, Anne J Prabhu, Paul Mazhuvanchary Jacob, Remya Rajan, Rajiv C Michael, Amit Jiwan Tirkey, Natarajan Ramalingam, Hesarghatta S Asha, Nitin Kapoor
The increased detection of thyroid nodules in the human population has led to an increase in the number of thyroid surgeries without an improvement in survival outcomes. Though the choice for surgery is straightforward in malignant thyroid nodules, the decision is far more complex in those nodules that get categorized into indeterminate thyroid nodules (ITN) by fine needle aspiration. Therefore, there is a pressing need to develop a tool that will aid in decision-making among the ITN. In this context, the development of various molecular testing (MT) panels has helped to confirm or rule out malignancy, reducing unnecessary surgeries and potentially guiding the extent of surgery as well...
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38532453/current-prospects-of-hereditary-adrenal-tumors-towards-better-clinical-management
#12
REVIEW
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type...
March 26, 2024: Hereditary Cancer in Clinical Practice
https://read.qxmd.com/read/38532207/development-of-a-screening-system-of-gene-sets-for-estimating-the-time-of-early-skeletal-muscle-injury-based-on-second-generation-sequencing-technology
#13
JOURNAL ARTICLE
Junyi Shen, Hao Sun, Shidong Zhou, Liangliang Wang, Chaoxiu Dong, Kang Ren, Qiuxiang Du, Jie Cao, Yingyuan Wang, Junhong Sun
The present study is aimed to address the challenge of wound age estimation in forensic science by identifying reliable genetic markers using low-cost and high-precision second-generation sequencing technology. A total of 54 Sprague-Dawley rats were randomly assigned to a control group or injury groups, with injury groups being further divided into time points (4 h, 8 h, 12 h, 16 h, 20 h, 24 h, 28 h, and 32 h after injury, n = 6) to establish rat skeletal muscle contusion models...
March 27, 2024: International Journal of Legal Medicine
https://read.qxmd.com/read/38529185/development-and-validation-of-a-pharmacogenomics-reporting-workflow-based-on-the-illumina-global-screening-array-chip
#14
JOURNAL ARTICLE
Pamela Gan, Muhammad Irfan Bin Hajis, Mazaya Yumna, Jessline Haruman, Husnul Khotimah Matoha, Dian Tri Wahyudi, Santha Silalahi, Dwi Rizky Oktariani, Fitria Dela, Tazkia Annisa, Tessalonika Damaris Ayu Pitaloka, Priscilla Klaresza Adhiwijaya, Rizqi Yanuar Pauzi, Robby Hertanto, Meutia Ayuputeri Kumaheri, Levana Sani, Astrid Irwanto, Ariel Pradipta, Kamonlawan Chomchopbun, Mar Gonzalez-Porta
Background: Microarrays are a well-established and widely adopted technology capable of interrogating hundreds of thousands of loci across the human genome. Combined with imputation to cover common variants not included in the chip design, they offer a cost-effective solution for large-scale genetic studies. Beyond research applications, this technology can be applied for testing pharmacogenomics, nutrigenetics, and complex disease risk prediction. However, establishing clinical reporting workflows requires a thorough evaluation of the assay's performance, which is achieved through validation studies...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38528457/full-length-16s-rrna-gene-sequencing-by-pacbio-improves-taxonomic-resolution-in-human-microbiome-samples
#15
JOURNAL ARTICLE
Elena Buetas, Marta Jordán-López, Andrés López-Roldán, Giuseppe D'Auria, Llucia Martínez-Priego, Griselda De Marco, Miguel Carda-Diéguez, Alex Mira
BACKGROUND: Sequencing variable regions of the 16S rRNA gene (≃300 bp) with Illumina technology is commonly used to study the composition of human microbiota. Unfortunately, short reads are unable to differentiate between highly similar species. Considering that species from the same genus can be associated with health or disease it is important to identify them at the lowest possible taxonomic rank. Third-generation sequencing platforms such as PacBio SMRT, increase read lengths allowing to sequence the whole gene with the maximum taxonomic resolution...
March 25, 2024: BMC Genomics
https://read.qxmd.com/read/38523289/haemophilia-care-in-asia-learning-from-clinical-practice-in-some-asian-countries
#16
REVIEW
Pantep Angchaisuksiri, Marilou Amurao-Abiera, Sheng-Chien Chou, Pol Chewcharat, Novie Amelia Chozie, Roy Gomez, Tien Sim Leng, Pei-Chin Lin, Nguyen Thi Mai, Zulaiha Muda, Tulika Seth, Darintr Sosothikul, Raymond Siu-Ming Wong
BACKGROUND: The healthcare systems in Asia vary greatly due to the socio-economic and cultural diversities which impact haemophilia management. METHODS: An advisory board meeting was conducted with experts in haemophilia care from Asia to understand the heterogeneity in clinical practices and care provision in the region. FINDINGS: The overall prevalence of haemophilia in Asia ranges between 3 and 8.58/100,000 patients. Haemophilia A was more prevalent as compared to haemophilia B with a ratio of around 5:1...
March 24, 2024: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://read.qxmd.com/read/38523275/wiskott-aldrich-syndrome-protein-expression-in-female-was-carriers-a-flow-cytometry-study-from-north-india
#17
JOURNAL ARTICLE
Suprit Basu, Rashmi Rikhi, Kanika Arora, Vibhu Joshi, Saniya Sharma, Amit Rawat, Surjit Singh, Deepti Suri
INTRODUCTION: Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterized by microthrombocytopenia, infections, eczema, and increased predisposition to develop autoimmunity and malignancy. Flow cytometric assay for determining WAS protein (WASp) is a rapid and cost-effective tool for detecting patients. However, very few studies described WASp expression in female carriers. Most WAS carriers are clinically asymptomatic. Active screening of female family members helps identify female carriers, distinguish de novo mutations, and to select appropriate donor prior to curative stem cell transplantation...
March 24, 2024: Pediatric Blood & Cancer
https://read.qxmd.com/read/38522821/copy-number-variation-sequencing-for-the-products-of-conception-what-is-the-optimal-testing-strategy
#18
JOURNAL ARTICLE
Yiyao Chen, Xu Han, Renyi Hua, Niu Li, Lanlan Zhang, Wenjing Hu, Yanlin Wang, Zhida Qian, Shuyuan Li
BACKGROUND: Copy number variation sequencing (CNV-seq) is crucial in prenatal diagnosis, but its limitations in detecting polyploidy, maternal cell contamination (MCC), and uniparental disomy (UPD) restrict its application in the analysis of products of conception (POCs). This study aimed to investigate an optimal genetic testing strategy for POCs in the era of CNV-seq. METHODS: CNV-seq and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed in all 4,211 spontaneous miscarriage cases...
March 22, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/38520391/evolution-of-individual-variation-in-a-competitive-trait-a-theoretical-analysis
#19
JOURNAL ARTICLE
Klaus Reinhold, Lukas Eigentler, David W Kikuchi
When competitive traits are costly, negative frequency-dependence can maintain genetic variance. Most theoretical studies examining this problem assume binary polymorphisms, yet most trait variation in wild populations is continuous. We propose that continuous trait variation can result from continuous variation in resource quality and that, specifically, the shape of the resource distribution determines trait maintenance. We used an individual-based model to test which conditions favour the stable maintenance of variation and which cause temporal fluctuations in trait values...
March 23, 2024: Journal of Evolutionary Biology
https://read.qxmd.com/read/38520342/development-of-a-next-generation-snp-genotyping-array-for-wheat
#20
JOURNAL ARTICLE
Amanda J Burridge, Mark Winfield, Alexandra Przewieslik-Allen, Keith J Edwards, Imteaz Siddique, Ruth Barral-Arca, Simon Griffiths, Shifeng Cheng, Zejian Huang, Cong Feng, Susanne Dreisigacker, Alison R Bentley, Gina Brown-Guedira, Gary L Barker
High-throughput genotyping arrays have provided a cost-effective, reliable and interoperable system for genotyping hexaploid wheat and its relatives. Existing, highly cited arrays including our 35K Wheat Breeder's array and the Illumina 90K array were designed based on a limited amount of varietal sequence diversity and with imperfect knowledge of SNP positions. Recent progress in wheat sequencing has given us access to a vast pool of SNP diversity, whilst technological improvements have allowed us to fit significantly more probes onto a 384-well format Axiom array than previously possible...
March 23, 2024: Plant Biotechnology Journal
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