keyword
https://read.qxmd.com/read/38528672/a-rare-case-of-neonatal-hypomagnesemia-with-secondary-hypocalcemia-caused-by-a-novel-homozygous-trpm6-gene-variant
#21
JOURNAL ARTICLE
Mohammed Shahab Uddin, AlZahra Y Alradhi, Fahad Mushbb N Alqathani, Othman Saleh Alessa, Ahmed Nawfal M Alshammari, Ratna Tripathy, Mohammed Ahmed Alomari
BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS)...
March 26, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38528053/secondary-use-of-genomic-data-patients-decisions-at-point-of-testing-and-perspectives-to-inform-international-data-sharing
#22
JOURNAL ARTICLE
Melissa Martyn, Emily Forbes, Ling Lee, Anaita Kanga-Parabia, Rona Weerasuriya, Elly Lynch, Penny Gleeson, Clara Gaff
International sharing of genomic data files arising from clinical testing of patients is essential to further improve genomic medicine. Whilst the general public are reluctant to donate DNA for research, the choices patients actually make about sharing their clinical genomic data for future re-use (research or clinical) are unknown. We ascertained the data-sharing choices of 1515 patients having genomic testing for inherited conditions or cancer treatment from clinical consent forms. To understand the experiences and preferences of these patients, surveys were administered after test consent (RR 73%)...
March 25, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38528052/a-grey-wolf-optimization-based-modified-spwm-control-scheme-for-a-three-phase-half-bridge-cascaded-multilevel-inverter
#23
JOURNAL ARTICLE
Abdelrahman M Nasser, Amr Refky, Hamdy Shatla, Alaa M Abdel-Hamed
The Multilevel inverter (MLI) plays a pivotal role in Renewable Energy (RE) systems by offering a cost-effective and highly efficient solution for converting DC from Photovoltaic (PV) sources into AC at high voltages. In addition, an innovative technology holds immense significance as it not only enables the seamless integration of PV systems into the grid but also ensures optimal power generation, thereby contributing to the widespread adoption of RE and fostering a sustainable future. This paper presents a modified sinusoidal pulse width modulation (SPWM) control scheme for a three-phase half-bridge cascaded MLI-powered PV sources...
March 25, 2024: Scientific Reports
https://read.qxmd.com/read/38527901/uncovering-genetic-associations-in-the-human-diseasome-using-an-endophenotype-augmented-disease-network
#24
JOURNAL ARTICLE
Jakob Woerner, Vivek Sriram, Yonghyun Nam, Anurag Verma, Dokyoon Kim
MOTIVATION: Many diseases, particularly cardiometabolic disorders, exhibit complex multimorbidities with one another. An intuitive way to model the connections between phenotypes is with a disease-disease network (DDN), where nodes represent diseases and edges represent associations, such as shared single-nucleotide polymorphisms (SNPs), between pairs of diseases. To gain further genetic understanding of molecular contributors to disease associations, we propose a novel version of the shared-SNP DDN (ssDDN), denoted as ssDDN+, which includes connections between diseases derived from genetic correlations with intermediate endophenotypes...
March 4, 2024: Bioinformatics
https://read.qxmd.com/read/38527843/-genetic-characteristics-and-clinical-analysis-of-20-patients-with-gaucher-s-disease
#25
JOURNAL ARTICLE
T B Zhang, X L Wen, X L Zhang, J R Yan, G P Hao, L H Yang, R J Zhang
Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years...
January 14, 2024: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://read.qxmd.com/read/38527509/-clinical-and-genetic-spectrum-of-6-cases-with-asparagine-synthetase-deficiency
#26
JOURNAL ARTICLE
P P Song, X L Zhang, X L Li, D Xu, J L Wang, M M Chu, M Y Wang, T M Jia, K X Du, Y Dong
Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527508/-diagnosis-and-treatment-of-arrhythmogenic-cardiomyopathy-in-children
#27
JOURNAL ARTICLE
W Q Ye, Y Y Xiao, X K Jiang, M Jin, X F Wang, W W Ding
Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527446/kidney-failure-secondary-to-hereditary-xanthinuria-due-to-a-homozygous-deletion-of-the-xdh-gene-in-the-absence-of-overt-kidney-stone-disease
#28
Pedro Lisboa Gonçalves, Hugo Diniz, Isabel Tavares, Sofia Dória, Juan Dong, McKenna Kyriss, Lynette Fairbanks, João Paulo Oliveira
Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor sulfurase genes (MOCOS), respectively defining HXAN type I and type II. Hypouricemia, hypouricosuria, and abnormally high plasma and urine levels of xanthine, causing susceptibility to xanthine nephrolithiasis and deposition of xanthine crystals in tissues, are the metabolic hallmarks of HXAN. Several pathogenic variants in the XDH gene have so far been identified in patients with HXAN type I, but the clinical phenotype associated with the whole deletion of the human XDH gene is unknown...
March 25, 2024: Nephron
https://read.qxmd.com/read/38527227/dna-variants-detected-in-primary-and-metastatic-lung-adenocarcinoma-a-case-report-and-review-of-the-literature
#29
JOURNAL ARTICLE
Christina Kelly, Caitlin Raymond, Song Han, Youmin Lin, Linyijia Chen, Gengming Huang, Jianli Dong
Non-small cell lung cancer (NSCLC) has been found to have recurrent genetic abnormalities, and novel therapies targeting these aberrations have improved patient survival. In this study, specimens from benign tissue, primary tumors, and brain metastases were obtained at autopsy from a 55-year-old White female patient diagnosed with NSCLC and were examined using next-generation sequencing (NGS) and chromosomal microarray assay (CMA). No genetic aberrations were noted in the benign tissue; however, NGS identified a mutation in the KRAS proto-oncogene, GTPase (KRAS): KRAS exon 2 p...
March 25, 2024: Laboratory Medicine
https://read.qxmd.com/read/38527221/comprehensive-analysis-of-pkd1-and-pkd2-by-long-read-sequencing-in-autosomal-dominant-polycystic-kidney-disease
#30
JOURNAL ARTICLE
Dechao Xu, Aiping Mao, Libao Chen, Le Wu, Yiyi Ma, Changlin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. Genetic analysis of PKD1 has been challenging due to homology with 6 PKD1 pseudogenes and high GC content. METHODS: A single-tube multiplex long-range-PCR and long-read sequencing-based assay termed "comprehensive analysis of ADPKD" (CAPKD) was developed and evaluated in 170 unrelated patients by comparing to control methods including next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification...
March 25, 2024: Clinical Chemistry
https://read.qxmd.com/read/38527168/four-distinct-ipsilateral-vestibular-schwannomas-a-case-of-mosaic-nf2-related-schwannomatosis
#31
JOURNAL ARTICLE
Alexandra E Tunkel, Emily R Youner, Hayk Barseghyan, Yulong Fu, Surajit Bhattacharya, Miriam Bornhorst, Ashkan S Monfared
OBJECTIVES: Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis. METHODS: We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC)...
March 25, 2024: American Journal of Clinical Pathology
https://read.qxmd.com/read/38526136/isolation-of-diverse-simian-arteriviruses-causing-hemorrhagic-disease
#32
JOURNAL ARTICLE
Teressa M Shaw, Samuel T Dettle, Andres Mejia, Jennifer M Hayes, Heather A Simmons, Puja Basu, Jens H Kuhn, Mitchell D Ramuta, Cody J Warren, Peter B Jahrling, David H O'Connor, Liupei Huang, Misbah Zaeem, Jiwon Seo, Igor I Slukvin, Matthew E Brown, Adam L Bailey
Genetically diverse simian arteriviruses (simarteriviruses) naturally infect geographically and phylogenetically diverse monkeys, and cross-species transmission and emergence are of considerable concern. Characterization of most simarteriviruses beyond sequence analysis has not been possible because the viruses fail to propagate in the laboratory. We attempted to isolate 4 simarteriviruses, Kibale red colobus virus 1, Pebjah virus, simian hemorrhagic fever virus, and Southwest baboon virus 1, by inoculating an immortalized grivet cell line (known to replicate simian hemorrhagic fever virus), primary macaque cells, macrophages derived from macaque induced pluripotent stem cells, and mice engrafted with macaque CD34+-enriched hematopoietic stem cells...
April 2024: Emerging Infectious Diseases
https://read.qxmd.com/read/38525638/trisomy-21-screening-with-%C3%AE-lpha-software-and-the-fetal-medicine-foundation-algorithm
#33
JOURNAL ARTICLE
L Pistorius, C A Cluver, I Bhorat, L Geerts
BACKGROUND: Screening for trisomy 21 provides pregnant women with accurate risk information. Different algorithms are used to screen for trisomy 21 in South Africa (SA). The Fetal Medicine Foundation (FMF) provides software to screen for trisomy 21 in the first trimester by ultrasound or a combination of ultrasound and biochemistry (combined screening), and requires regular and stringent quality control. With αlpha software, first trimester combined screening and screening with biochemistry alone in the first or second trimester are possible...
November 6, 2023: South African Medical Journal
https://read.qxmd.com/read/38525531/optimization-of-mouse-kidney-digestion-protocols-for-single-cell-applications
#34
JOURNAL ARTICLE
Jake N Robertson, Henry Diep, Alexander Pinto, Christopher G Sobey, Grant R Drummond, Antony Vinh, Maria Jelinic
Single-cell technologies such as flow cytometry and single-cell RNA sequencing (scRNAseq) have allowed for comprehensive characterisation of the kidney cellulome. However, there is disparity in the various protocols for preparing kidney single-cell suspensions. We aimed to address this limitation by characterising kidney cellular heterogeneity using three previously published single-cell preparation protocols. Single-cell suspensions were prepared from male and female C57BL/6 kidneys using the following kidney tissue dissociation protocols: (P1) a scRNAseq protocol; (P2) a multi-tissue digestion kit from Miltenyi Biotec ; and (P3) a protocol established in our laboratory...
March 25, 2024: Physiological Genomics
https://read.qxmd.com/read/38525299/the-effects-of-genotype-by-environment-interactions-on-body-condition-score-across-three-winter-supplemental-feed-environments-in-a-composite-beef-cattle-breed-in-montana
#35
JOURNAL ARTICLE
Ashley S Ling, El Hamidi Hay
Cattle operations in the Northern Great Plains region of the United States face extreme cold weather conditions and require nutritional supplementation over the winter season in order for animals to maintain body condition. In cow-calf operations, body condition scores (BCS) measured at calving and breeding have been shown to be associated with several economically important health and fertility traits, so maintenance of BCS is both an animal welfare and economic concern. A low-to-medium heritability has been found for BCS when measured across various production stages, indicating a large environmental influence but sufficient genetic basis for selection...
2024: Translational Animal Science
https://read.qxmd.com/read/38524771/familial-congenital-lower-urinary-tract-obstruction-luto-suggested-by-screening-for-lower-urinary-tract-dysfunction-in-parents-of-patients-a-descriptive-study
#36
JOURNAL ARTICLE
Fabian Ebach, Pauline Wagner, Raimund Stein, Ramona Dolscheid-Pommerich, Heiko Reutter, Alina C Hilger
BACKGROUND: Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common entity. Familial occurrence has been described, suggestive of underlying genetic factors. LUTO can occur in various degrees of severity. In severe forms, oligohydramnios, pulmonary hypoplasia, and renal damage can occur resulting in high pre- and postnatal mortality. On the contrary, mild forms may become apparent through recurrent urinary tract infections...
March 2024: Health Science Reports
https://read.qxmd.com/read/38524683/lake-water-chemistry-and-local-adaptation-shape-nacl-toxicity-in-daphnia-ambigua
#37
JOURNAL ARTICLE
Mary A Rogalski, Elizabeth S Baker, Clara M Benadon, Christoph Tatgenhorst, Brady R Nichols
The increasing application of road deicing agents (e.g., NaCl) has caused widespread salinization of freshwater environments. Chronic exposure to toxic NaCl levels can impact freshwater biota at genome to ecosystem scales, yet the degree of harm caused by road salt pollution is likely to vary among habitats and populations. The background ion chemistry of freshwater environments may strongly impact NaCl toxicity, with greater harm occurring in ion-poor, soft water conditions. In addition, populations exposed to salinization may evolve increased NaCl tolerance...
March 2024: Evolutionary Applications
https://read.qxmd.com/read/38524621/novel-homozygous-mutations-in-aire-leading-to-aps-1-and-potential-mechanisms-based-on-bioinformatics-analysis
#38
JOURNAL ARTICLE
Huiping Wu, Yiqi Mo, Shiwen Yu, Xiaojun Ye, Yili Lu, Chaoban Wang, Xiaoou Shan
BACKGROUND: Autoimmune Poly-endocrine Syndrome Type 1 (APS-1), also known as autoimmune poly-endocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a single-gene hereditary disorder usually characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenocortical insufficiency. This syndrome is very rare in China. METHODS: For our reported patient, we employed clinical and laboratory examinations along with genetic identification...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38524302/alternative-genome-sequencing-approaches-of-sars-cov-2-using-ion-ampliseq-technology
#39
JOURNAL ARTICLE
Md Shazid Hasan, M Shaminur Rahman, Prosanto Kumar Das, A S M Rubayet Ul Alam, Ovinu Kibria Islam, Hassan M Al-Emran, M Anwar Hossain, Iqbal Kabir Jahid
A thorough understanding of SARS-CoV-2 genetic features is compulsory to track the ongoing pandemic across multiple geographical locations of the world. Thermo Fisher Scientific USA has developed the Ion AmpliSeq SARS-CoV-2 Research Panel for the targeted sequencing of SARS-CoV-2 complete genome with high coverage and lower error rate. In this study an alternative approach of complete genome sequencing has been validated using different commercial sequencing kits to sequence the SARS-CoV-2. Amplification of cDNA with the SARS-CoV-2 primer pool was performed separately using two different master mixes: 2X environmental master mix (EM) and Platinum™ PCR SuperMix High Fidelity master mix (PM) instead of 5X Ion AmpliSeq™ HiFi Mix whereas NEBNext® Fast DNA Library Prep Set for Ion Torrent™ kit was used as an alternative to Ion AmpliSeq Library Kit Plus for other reagents...
June 2024: MethodsX
https://read.qxmd.com/read/38524212/the-first-clinical-validation-of-whole-genome-screening-on-standard-trophectoderm-biopsies-of-preimplantation-embryos
#40
JOURNAL ARTICLE
Yuntao Xia, Maria Katz, Dhruva Chandramohan, Elan Bechor, Benjamin Podgursky, Michael Hoxie, Qinnan Zhang, Willy Chertman, Jessica Kang, Edwina Blue, Justin Chen, Justin Schleede, Nathan R Slotnick, Xiaoli Du, Robert Boostanfar, Eric Urcia, Barry Behr, Jacques Cohen, Noor Siddiqui
OBJECTIVE: To validate the performance of our laboratory-developed whole-genome screening assay within clinical preimplantation genetic testing environments. DESIGN: Perform a laboratory-developed whole-genome assay on both cell lines and trophectoderm biopsies, subsequently employing the next-generation sequencing procedure to reach a sequencing depth of 30X. Adhere to the Genome Analysis Toolkit best practices for accuracy, sensitivity, specificity, and precision calculations by comparing samples with references...
March 2024: F&S reports
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