keyword
https://read.qxmd.com/read/38450436/primary-congenital-glaucoma-in-two-siblings-with-different-compound-heterozygous-cyp1b1-genotypes
#21
JOURNAL ARTICLE
Alexandra Ruiz Guijosa, Laura Fernández Morales, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo
OBJECTIVE: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings. MATERIALS AND METHODS: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data...
March 7, 2024: Ophthalmic Genetics
https://read.qxmd.com/read/38442850/factors-and-outcomes-associated-with-corneal-edema-and-haabs-striae-in-primary-congenital-glaucoma
#22
JOURNAL ARTICLE
Adam Jacobson, Brenda L Bohnsack
PURPOSE: To identify specific factors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma (PCG). METHODS: The medical records of patients with PCG from 2011 to 2023 with >3 months' follow-up were reviewed retrospectively. Preoperative details and final outcomes were compared between eyes with and without corneal findings. The right eye of bilateral cases and the affected eye in unilateral cases were included. RESULTS: A total of 58 patients (104 eyes, 69% male) underwent initial angle surgery at an average age of 297 ± 368 (median, 134) days...
March 3, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/38417828/efficacy-and-safety-of-omarigliptin-a-novel-once-weekly-dipeptidyl-peptidase-4-inhibitor-in-type-2-diabetes-mellitus-a-systematic-review-and-meta-analysis
#23
JOURNAL ARTICLE
A B M Kamrul-Hasan, Muhammad Shah Alam, Samir Kumar Talukder, Deep Dutta, Shahjada Selim
BACKGRUOUND: No recent meta-analysis has holistically analyzed and summarized the efficacy and safety of omarigliptin in type 2 diabetes mellitus (T2DM). We conducted a meta-analysis to address this knowledge gap. METHODS: Electronic databases were searched to identify randomized controlled trials (RCTs) that included patients with T2DM who received omarigliptin in the intervention arm. The control arm consisted of either a placebo (passive control group [PCG]) or an active comparator (active control group [ACG])...
February 2024: Endocrinology and Metabolism
https://read.qxmd.com/read/38415129/distance-specific-functional-connectivity-strength-alterations-in-human-immunodeficiency-virus-asymptomatic-neurocognitive-impairment-patients-a-cross-sectional-study
#24
JOURNAL ARTICLE
Jing Zhao, Ye Wu, Feng Chen, Haiyan Zhao, Jian Chen, Bin Jing, Hongjun Li
BACKGROUND: Asymptomatic neurocognitive impairment (ANI) is the mildest form of human immunodeficiency virus (HIV)-associated neurocognitive disorders (HANDs), and functional connectivity strength (FCS) alternations have been observed in the ANI stage. However, it is not clear whether the FCS alterations are influenced by the anatomical distance. This study sought to investigate distance-specific FCS changes in HIV ANI patients. METHODS: In total, 29 patients with HAND and 32 healthy controls (HCs) were enrolled in the study...
February 1, 2024: Quantitative Imaging in Medicine and Surgery
https://read.qxmd.com/read/38408950/outcomes-of-gonioscopy-assisted-transluminal-trabeculotomy-in-primary-congenital-glaucoma-treatment-a-retrospective-study
#25
JOURNAL ARTICLE
Junyi Lai, Yunsheng Qiao, Chen Tan, Junyi Chen
BACKGROUND: This retrospective study aimed to evaluate the efficacy and safety of gonioscopy-assisted transluminal trabeculotomy (GATT) in Chinese patients with primary congenital glaucoma (PCG) and identify factors influencing surgical success. METHODS: Fourteen patients (24 eyes) diagnosed with PCG who underwent gonioscopy-assisted transluminal trabeculotomy were recruited, and data on intraocular pressure (IOP), antiglaucoma medication, surgery-related complications, and additional treatments were collected during preoperative and postoperative visits...
February 26, 2024: BMC Ophthalmology
https://read.qxmd.com/read/38393859/hbnet-a-blended-ensemble-model-for-the-detection-of-cardiovascular-anomalies-using-phonocardiogram
#26
JOURNAL ARTICLE
Ann Nita Netto, Lizy Abraham, Saji Philip
BACKGROUND: Cardiac diseases are highly detrimental illnesses, responsible for approximately 32% of global mortality [1]. Early diagnosis and prompt treatment can reduce deaths caused by cardiac diseases. In paediatric patients, it is challenging for paediatricians to identify functional murmurs and pathological murmurs from heart sounds. OBJECTIVE: The study intends to develop a novel blended ensemble model using hybrid deep learning models and softmax regression to classify adult, and paediatric heart sounds into five distinct classes, distinguishing itself as a groundbreaking work in this domain...
February 1, 2024: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://read.qxmd.com/read/38393735/a-new-approach-to-phonocardiogram-severity-analysis
#27
JOURNAL ARTICLE
Debbal Imane, Hamza Cherif Lotfi, Baakek Yettou Nour El Houda
Phonocardiogram signal (PCG) has been the subject of several signal processing studies, where researchers applied various analysis techniques and extracted numerous features for different purposes, like cardiac pathologies identification, healthy/pathologic case discrimination, and severity assessment. When talking about cardiac severity, many think directly about the intensity or energy of the signal as the most reliable parameter. However, cardiac severity is not always reflected by the intensity or energy of the signal but includes other variables as well...
February 23, 2024: Journal of Medical Engineering & Technology
https://read.qxmd.com/read/38379583/the-complete-mitochondrial-genome-of-poraniopsis-inflata-asteroidea-valvatida-poraniidae-from-dokdo-island-korea
#28
JOURNAL ARTICLE
Maria Alboasud, Hoon Jeong, Taekjun Lee
This study presents the complete mitochondrial genome sequence of Poraniopsis inflata , providing valuable information on its genetic and taxonomic studies. Through next-generation sequencing, we successfully obtained the complete mitogenome of P. inflata , spanning a length of 16,322 bp. This genome structure encompasses 13 protein-coding genes (PCGs), 22 transfer RNA genes, and two ribosomal RNA genes. The phylogenetic analysis, based on a dataset of 13 PCG sequences, illuminated the phylogenetic relationships of P...
2024: Mitochondrial DNA. Part B. Resources
https://read.qxmd.com/read/38377874/secondary-intervention-after-failed-initial-intervention-for-primary-congenital-glaucoma
#29
JOURNAL ARTICLE
N Bayoumi, E N Elsayed
AIM: To report on the outcome of subsequent interventions after failed initial intervention for primary congenital glaucoma (PCG). METHODS: Retrospective chart review of children presenting with PCG and failed the initial glaucoma surgery in Alexandria Main University Hospital from 2005 to 2017. The data included demographics, preoperative, operative and postoperative clinical characteristics. Success was defined as IOP<16mmHg and <20% from the presenting IOP and C/D ratio like or better than presentation...
February 19, 2024: Journal Français D'ophtalmologie
https://read.qxmd.com/read/38370975/comparative-analyses-of-pleurotus-pulmonarius-mitochondrial-genomes-reveal-two-major-lineages-of-mini-oyster-mushroom-cultivars
#30
JOURNAL ARTICLE
Yang Yu, Tianhai Liu, Yong Wang, Lixu Liu, Xiaolan He, Jianwei Li, Francis M Martin, Weihong Peng, Hao Tan
Pleurotus pulmonarius , commonly known as the mini oyster mushroom, is highly esteemed for its crisp texture and umami flavor. Limited genetic diversity among P. pulmonarius cultivars raises concerns regarding its sustainable industrial production. To delve into the maternal genetic diversity of the principal P. pulmonarius cultivars, 36 cultivars and five wild isolates were subjected to de novo sequencing and assembly to generate high-quality mitogenome sequences. The P. pulmonarius mitogenomes had lengths ranging from 69,096 to 72,905 base pairs...
December 2024: Computational and Structural Biotechnology Journal
https://read.qxmd.com/read/38336845/comparative-mitochondrial-genome-brings-insights-to-slight-variation-in-gene-proportion-and-large-intergenic-spacer-and-phylogenetic-relationship-of-mudskipper-species
#31
JOURNAL ARTICLE
Valdemiro Muhala, Aurycéia Guimarães-Costa, Adam Rick Bessa-Silva, Luan Pinto Rabelo, Jeferson Carneiro, Isadola Eusébio Macate, Luciana Watanabe, Oscar David Balcázar, Grazielle Evangelista Gomes, Marcelo Vallinoto, Iracilda Sampaio
Fish mitochondrial genome have been largely studied worldwide for evolutionary and other genetic purposes and the structure and gene organization are commonly conservative. However, several studies have demonstrated that this scenario may present variations in some taxa, showing differentiation on the gene rearrangement. In this study, the complete mitogenome of terrestrial fish Boleophthalmus dussumieri was generated and compared with other species of the Exudercidae fishes. The newly complete mitogenome generated is circular and 16,685 bp of length, and it contained 13 protein-coding genes (PCGs), two ribosomal RNA (rRNAs), 22 transfer RNA genes (tRNAs), and one control region (CR), with high conservative structure, like other Mudskippers...
February 9, 2024: Scientific Reports
https://read.qxmd.com/read/38331651/increased-frequency-of-oral-plasma-cell-mucositis-plasma-cell-gingivitis-after-the-covid-19-pandemic-a-23-year-retrospective-analysis-and-review-of-diagnostic-challenges-relating-to-this-condition
#32
JOURNAL ARTICLE
Sarah G Fitzpatrick, Saja Alramadhan, Mohammed N Islam, Indraneel Bhattacharyya
OBJECTIVE: Oral plasma cell mucositis (PCM) or localized plasma cell gingivitis (PCG) is an idiopathic inflammatory condition often associated with hypersensitivity reactions. This study aimed to evaluate the frequency and features of PCM/PCG in a large biopsy service over a time period of more than 20 years. STUDY DESIGN: The biopsy archives at University of Florida College of Dentistry were searched from 2000 through the first quarter of 2023 for cases of oral PCM or PCG...
August 28, 2023: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://read.qxmd.com/read/38317296/comparative-posterior-corneal-profile-of-keratoconus-hydrops-versus-haab-s-striae-in-congenital-glaucoma
#33
JOURNAL ARTICLE
Sohini Mandal, Abhishek Singh, Seema Sen, Jeewan S Titiyal, Viney Gupta, Shikha Gupta
Keratoconus eyes develop corneal decompensation more often compared to eyes with primary congenital glaucoma (PCG) following Descemet's membrane (DM) tear. This study was conducted to compare the posterior corneal morphology in areas with DM breaks with regards to DM and pre-Descemet's layer (PDL) between the two. In this cross-sectional comparative study, anterior segment optical coherence tomography (AS-OCT) scans of the posterior cornea of advanced keratoconus eyes with hydrops (n = 12), PCG eyes with Haab's striae (n = 15), and healthy control eyes (n = 14) were compared for DM-PDL morphology...
February 5, 2024: Indian Journal of Ophthalmology
https://read.qxmd.com/read/38298405/%C3%AF-complete-mitochondrial-genome-of-guigarracailaoensis-wang-chen-zheng-2022-cypriniformes-cyprinidae-and-its-phylogenetic-implications
#34
JOURNAL ARTICLE
Lan-Ping Zheng, Ying-Min Geng
Guigarracailaoensis is a member of family Cyprinidae, subfamily Labeoninae (Cypriniformes) which was recently discovered in southwestern China. Following its initial description, additional information on this species has remained notably scarce. In the current study, we assemble the complete mitochondrial genome (mitogenome) of G.cailaoensis using the Illumina sequencing platform. The mitogenome is identified as a circular, double-stranded DNA sequence of 16,593 base pairs, encompassing 13 protein-coding genes (PCGs), 22 transfer RNA genes, two ribosomal RNA genes, and a putative control region...
2024: ZooKeys
https://read.qxmd.com/read/38298223/the-complete-mitochondrial-genome-of-aegialites-californicus-motchoulsky-1845-insecta-coleoptera-salpingidae
#35
JOURNAL ARTICLE
Marianne Nilsen Haugen, Vladimir I Gusarov, Torsten Hugo Struck
The flightless intertidal beetle genus Aegialites (family Salpingidae) is distributed along the Northern Pacific coasts, from California to Alaska and from Northern Japan to Kamchatka. Systematics of Aegialites and its phylogenetic relationships to other members of Salpingidae are unclear, and little genetic information is available. We here present the first complete mitochondrial genome of this genus, represented by Aegialites californicus (Motchoulsky, 1845) from Sonoma County, California, U.S.A. The complete mitochondrial genome of A...
2024: Mitochondrial DNA. Part B. Resources
https://read.qxmd.com/read/38298222/the-complete-mitochondrial-genome-of-the-baishanzu-horned-toad-boulenophrys-baishanzuensis-anura-megophryidae
#36
JOURNAL ARTICLE
Jian-Ping Wu, Jia-Lian Wu, Yun-Bo Chen, Wei-Hua Xu, Wen-Qi Xie, Zi-Qiang Tang, Guo-Hua Ding, Li Ma
The mitochondrial genome (mitogenome) of Boulenophrys baishanzuensis (Anura: Megophryidae) was sequenced by the Illumina platform. The assembled circular mitogenome of B. baishanzuensis had a total length of 17,040 bp, with a GC content of 41.25%. It consisted of 13 protein-coding genes (PCGs), two rRNA genes, 22 tRNA genes, and a D-loop region. The majority of the PCGs were encoded by the H-strand, while one PCG ( nad6 ) and eight tRNA genes (tRNA-Gln, tRNA-Ala, tRNA-Asn, tRNA-Cys, tRNA-Tyr, tRNA-Ser2, tRNA-Glu, and tRNA-Pro) were encoded in the L-strand...
2024: Mitochondrial DNA. Part B. Resources
https://read.qxmd.com/read/38281596/cognitive-protection-and-brain-entropy-changes-from-omega-3-polyunsaturated-fatty-acids-supplement-in-late-life-depression-a-52-week-randomized-controlled-trial
#37
JOURNAL ARTICLE
Chemin Lin, Shwu-Hua Lee, Chih-Mao Huang, Yu-Wen Wu, You-Xun Chang, Ho-Ling Liu, Shu-Hang Ng, Ying-Chih Cheng, Chih-Chiang Chiu, Shun-Chi Wu
BACKGROUND: Late-life depression (LLD) is associated with risk of dementia, yet intervention of LLD provides an opportunity to attenuate subsequent cognitive decline. Omega-3 polyunsaturated fatty acids (PUFAs) supplement is a potential intervention due to their beneficial effect in depressive symptoms and cognitive function. To explore the underlying neural mechanism, we used resting-state functional MRI (rs-fMRI) before and after omega-3 PUFAs supplement in older adults with LLD. METHODS: A 52-week double-blind randomized controlled trial was conducted...
January 26, 2024: Journal of Affective Disorders
https://read.qxmd.com/read/38265409/cbx8-promotes-epithelial-mesenchymal-transition-migration-and-invasion-of-lung-cancer-through-wnt-%C3%AE-catenin-signaling-pathway
#38
JOURNAL ARTICLE
Xiaoping Cai, Yuankai Lv, Jiongwei Pan, Zhuo Cao, Junzhi Zhang, Yuling Li, Hao Zheng
BACKGROUND: Lung cancer (LC) is primarily responsible for cancer-related deaths worldwide. Epithelial-mesenchymal transition (EMT) is a process in which epithelial cells acquire mesenchymal features and is associated with the development of tumors. CBX8, a member of the PcG protein family, plays a critical role in various cancers, containing LC. However, specific regulatory mechanisms of CBX8 in LC progression are not fully understood. This study aimed to investigate the regulatory role of CBX8 in LC progression...
January 23, 2024: Current Protein & Peptide Science
https://read.qxmd.com/read/38261492/identification-of-congenital-valvular-murmurs-in-young-patients-using-deep-learning-based-attention-transformers-and-phonocardiograms
#39
JOURNAL ARTICLE
Mohanad Alkhodari, Leontios J Hadjileontiadis, Ahsan H Khandoker
One in every four newborns suffers from congenital heart disease (CHD) that causes defects in the heart structure. The current gold-standard assessment technique, echocardiography, causes delays in the diagnosis owing to the need for experts who vary markedly in their ability to detect and interpret pathological patterns. Moreover, echo is still causing cost difficulties for low-and middle-income countries. Here, we developed a deep learning based attention transformer model to automate the detection of heart murmurs caused by CHD at an early stage of life using cost-effective and widely available phonocardiography (PCG)...
January 23, 2024: IEEE Journal of Biomedical and Health Informatics
https://read.qxmd.com/read/38254293/efficacy-and-safety-of-omarigliptin-a-novel-once-weekly-dipeptidyl-peptidase-4-inhibitor-in-type-2-diabetes-mellitus-a-systematic-review-and-meta-analysis
#40
JOURNAL ARTICLE
A B M Kamrul-Hasan, Muhammad Shah Alam, Samir Kumar Talukder, Deep Dutta, Shahjada Selim
BACKGROUND: No recent meta-analysis has holistically analyzed and summarized the efficacy and safety of omarigliptin in type 2 diabetes mellitus (T2DM). We conducted a meta-analysis to address this knowledge gap. METHODS: Electronic databases were searched to identify randomized controlled trials (RCTs) that included patients with T2DM who received omarigliptin in the intervention arm. The control arm consisted of either a placebo (passive control group [PCG]) or an active comparator (active control group [ACG])...
January 23, 2024: Endocrinology and Metabolism
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