keyword
https://read.qxmd.com/read/38614076/toward-clinical-exomes-in-diagnostics-and-management-of-male-infertility
#1
JOURNAL ARTICLE
Kristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, Anu Valkna, Avirup Dutta, Kristjan Pomm, Olev Poolamets, Liina Nagirnaja, Erik Tamp, Eisa Mahyari, Vladimir Vihljajev, Stanislav Tjagur, Sofia Papadimitriou, Antoni Riera-Escamilla, Nassim Versbraegen, Ginevra Farnetani, Helen Castillo-Madeen, Mailis Sütt, Viljo Kübarsepp, Sven Tennisberg, Paul Korrovits, Csilla Krausz, Kenneth I Aston, Tom Lenaerts, Donald F Conrad, Margus Punab, Maris Laan
Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%)...
April 12, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38614012/reliability-and-measurement-error-of-a-maximal-voluntary-toe-plantarflexion-measurement-process
#2
JOURNAL ARTICLE
Enrico Roma, Antoine Michel, Romain Tourillon, Guillaume Y Millet, Jean-Benoît Morin
Despite the growing interest, information regarding the psychometric properties of maximal voluntary isometric toe plantarflexion force and rate of force development (RFD) is lacking. Hence, we investigate the test-retest reliability and measurement error of these outcome measurement instruments measured with a custom-built dynamometer. Twenty-six healthy adults participated in a crossed design with four sessions separated by 5-7 days. RFD was quantified using manual onset and calculating the impulse and the slope in the following time windows: 0-50 ms, 0-100 ms, 0-150 ms, 0-200 ms, 0-250 ms...
April 3, 2024: Foot
https://read.qxmd.com/read/38612991/associations-between-bronchopulmonary-dysplasia-insulin-like-growth-factor-i-and-nutrition
#3
JOURNAL ARTICLE
Dana F J Yumani, Floor H Walschot, Harrie N Lafeber, Mirjam M van Weissenbruch
Insulin-like growth factor I (IGF-I) has been suggested as an important factor in the pathogenesis of bronchopulmonary dysplasia (BPD). In turn, nutrition has been associated with IGF-I levels and could be of importance in the pathogenesis of BPD. This study aimed to explore the association between nutrition, the IGF-I axis and the occurrence of BPD. Eighty-six preterm infants (44 male, mean gestational age: 29.0 weeks (standard deviation: 1.7 weeks)) were enrolled in an observational study. Serum IGF-I (µg/L) and insulin-like growth factor binding protein 3 (IGFBP-3; mg/L) were measured at birth and at 2, 4 and 6 weeks postnatal age...
March 27, 2024: Nutrients
https://read.qxmd.com/read/38611620/reduced-retinal-blood-vessel-densities-measured-by-optical-coherence-tomography-angiography-in-keratoconus-patients-are-negatively-correlated-with-keratoconus-severity
#4
JOURNAL ARTICLE
Martin Dominik Leclaire, Jens Julian Storp, Larissa Lahme, Eliane Luisa Esser, Nicole Eter, Maged Alnawaiseh
Keratoconus (KC) is the most common corneal ectasia. Optical coherence tomography angiography (OCT-A) is a relatively new non-invasive imaging technique that allows the visualization and quantification of retinal and choriocapillary blood vessels. The aim of this study is to assess retinal and choriocapillary vessel density (VD) differences between KC patients and healthy controls and to investigate correlations between VD and KC severity. Fifty-two eyes were included in this exploratory study: twenty-six eyes from 26 KC patients and twenty-six eyes from 26 age- and gender-matched healthy controls...
March 27, 2024: Diagnostics
https://read.qxmd.com/read/38605015/violation-of-emergent-rotational-symmetry-in-the-hexagonal-kagome-superconductor-csv-3-sb-5
#5
JOURNAL ARTICLE
Kazumi Fukushima, Keito Obata, Soichiro Yamane, Yajian Hu, Yongkai Li, Yugui Yao, Zhiwei Wang, Yoshiteru Maeno, Shingo Yonezawa
Superconductivity is caused by electron pairs that are canonically isotropic, whereas some exotic superconductors are known to exhibit non-trivial anisotropy stemming from unconventional pairings. However, superconductors with hexagonal symmetry, the highest rotational symmetry allowed in crystals, exceptionally have strong constraint that is called emergent rotational symmetry (ERS): anisotropic properties should be very weak especially near the critical temperature Tc even for unconventional pairings such as d-wave states...
April 11, 2024: Nature Communications
https://read.qxmd.com/read/38604332/investigation-of-glucagon-like-peptide-1-response-to-six-oral-carbohydrates-in-ponies
#6
JOURNAL ARTICLE
H B Carslake, G L Pinchbeck, C M Argo, A H A Dugdale, C M McGowan
Glucagon-like peptide-1 (GLP-1), the principal incretin in horses, may play a role in the pathophysiology of insulin dysregulation (ID). This study aimed to describe its concentration in response to three preserved forages and four dynamic tests for ID in ponies. Twelve adult ponies of mixed ID status were given a meal of hay, soaked hay or haylage, an in-feed oral glucose test (OGT), oral sugar test (OST), an oral test using a proprietary breakfast cereal (WEET) or a combined glucose-insulin tolerance test (CGIT) weekly in a randomised cross-over study...
April 9, 2024: Veterinary Journal
https://read.qxmd.com/read/38604276/femoral-coronal-malalignment-is-associated-with-failure-in-mobile-bearing-medial-unicompartmental-knee-arthroplasty
#7
JOURNAL ARTICLE
Sheng-Hsun Lee, Josh R Labott, Diego Alarcon Perico, Sergio F Guarin Perez, Rafael J Sierra
INTRODUCTION: Femur-first technique (FF) for mobile-bearing medial unicompartmental knee arthroplasty (UKA) has been described as an alternative to tibia first-technique (TF). The aim of this study was to compare the radiographic results in UKAs using FF or TF techniques and their influence on failure rates. MATERIALS AND METHODS: We retrospectively reviewed 288 UKAs with a minimum 2-year follow-up. There were 147 knees in the TF and 141 knees in the FF cohorts...
April 9, 2024: Journal of Arthroplasty
https://read.qxmd.com/read/38602567/mitral-annular-disjunction-in-out-of-hospital-cardiac-arrest-patients-a-retrospective-cardiac-mri-study
#8
JOURNAL ARTICLE
Felix Troger, Gert Klug, Paulina Poskaite, Christina Tiller, Ivan Lechner, Martin Reindl, Magdalena Holzknecht, Priscilla Fink, Eva-Maria Brunnauer, Elke R Gizewski, Bernhard Metzler, Sebastian Reinstadler, Agnes Mayr
BACKGROUND: Mitral annular disjunction (MAD), defined as defective attachment of the mitral annulus to the ventricular myocardium, has recently been linked to malignant arrhythmias. However, its role and prognostic significance in patients requiring cardiopulmonary resuscitation (CPR) remain unknown. This retrospective analysis aimed to describe the prevalence and significance of MAD by cardiac magnetic resonance (CMR) imaging in out-of-hospital cardiac arrest (OHCA) patients. METHODS: Eighty-six patients with OHCA and a CMR scan 5 days after CPR (interquartile range (IQR): 49 days before - 9 days after) were included...
April 11, 2024: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://read.qxmd.com/read/38586034/rapid-homolog-juxtaposition-during-meiotic-chromosome-pairing
#9
Tadasu Nozaki, Beth Weiner, Nancy Kleckner
A central basic feature of meiosis is pairing of homologous maternal and paternal chromosomes ("homologs") intimately along their lengths. Recognition between homologs and their juxtaposition in space are mediated by axis-associated DNA recombination complexes. Additional effects ensure that pairing occurs without ultimately giving entanglements among unrelated chromosomes. Here we examine the process of homolog juxtaposition in real time by 4D fluorescence imaging of tagged chromosomal loci at high spatio-temporal resolution in budding yeast...
March 27, 2024: bioRxiv
https://read.qxmd.com/read/38580766/epigenetic-responses-to-nonchemical-stressors-potential-molecular-links-to-perinatal-health-outcomes
#10
REVIEW
Lauren A Eaves, Cailee E Harrington, Rebecca C Fry
PURPOSE OF REVIEW: We summarize the recent literature investigating exposure to four nonchemical stressors (financial stress, racism, psychosocial stress, and trauma) and DNA methylation, miRNA expression, and mRNA expression. We also highlight the relationships between these epigenetic changes and six critical perinatal outcomes (preterm birth, low birth weight, preeclampsia, gestational diabetes, childhood allergic disease, and childhood neurocognition). RECENT FINDINGS: Multiple studies have found financial stress, psychosocial stress, and trauma to be associated with DNA methylation and/or miRNA and mRNA expression...
April 6, 2024: Current Environmental Health Reports
https://read.qxmd.com/read/38575408/a-systematic-review-and-meta-analysis-of-the-impact-of-local-therapies-on-local-event-suppression-in-metastatic-hormone-sensitive-prostate-cancer
#11
REVIEW
Ichiro Tsuboi, Akihiro Matsukawa, Mehdi Kardoust Parizi, Jakob Klemm, Stefano Mancon, Sever Chiujdea, Tamás Fazekas, Marcin Miszczyk, Ekaterina Laukhtina, Tatsushi Kawada, Satoshi Katayama, Takehiro Iwata, Kensuke Bekku, Pierre Karakiewicz, Koichiro Wada, Morgan Rouprêt, Motoo Araki, Shahrokh F Shariat
CONTEXT: It remains unclear to what extent the therapy of the primary local tumor, such as radical prostatectomy (RP) and radiation therapy (RT), improves overall survival in patients with low-volume metastatic hormone-sensitive prostate cancer (mHSPC). However, data suggest a benefit of these therapies in preventing local events secondary to local tumor progression. OBJECTIVE: To evaluate the efficacy of adding local therapy (RP or RT) to systemic therapies, including androgen deprivation therapy, docetaxel, and/or androgen receptor axis-targeted agents, in preventing local events in mHSPC patients compared with systemic therapy alone (ie, without RT of the prostate or RP)...
April 3, 2024: European Urology Oncology
https://read.qxmd.com/read/38575156/role-of-kidney-function-on-nrf2-mrna-levels-in-type-2-diabetes
#12
JOURNAL ARTICLE
Belinda Spoto, Cristina Politi, Maurizio Postorino, Rosa Maria Parlongo, Alessandra Testa, Giovanni Luigi Tripepi, Francesca Mallamaci, Carmine Zoccali
INTRODUCTION: Diabetic kidney disease (DKD) is a major complication in patients with diabetes and the main contributor to the chronic kidney disease (CKD) global burden. Oxidative stress is a crucial factor in DKD pathogenesis but the role of the antioxidant nuclear factor erythroid 2-related factor 2 (Nrf2) and its molecular regulators has been poorly investigated in man. RESEARCH DESIGN AND METHODS: In this case-control study, we analyzed the roles of Nrf2, a transcription factor shielding cells from oxidative stress, its repressor Kelch-like ECH-associated protein 1 (Keap1) and six microRNAs (miRNAs) that potentially suppress Nrf2...
April 3, 2024: BMJ Open Diabetes Research & Care
https://read.qxmd.com/read/38567191/impact-of-the-sagittal-spinopelvic-and-coronal-lower-extremity-alignments-on-clinical-outcomes-after-medial-unicompartmental-knee-arthroplasty
#13
JOURNAL ARTICLE
Mitsuru Hanada, Kensuke Hotta, Yukihiro Matsuyama
INTRODUCTION: We evaluated whether the clinical outcomes, including postoperative knee range of motion (ROM), after unicompartmental knee arthroplasty (UKA) were associated with the sagittal spinopelvic parameters and coronal alignment of the full lower extremity. METHODS: Forty-two patients (50 knees: six men, seven knees; 36 women, 43 knees) who underwent medial UKA between April 2015 and December 2022 were included. Preoperative radiographic examinations of the index for sagittal spinopelvic alignment included the sagittal vertical axis (SVA), lumbar lordosis, sacral slope (SS), pelvic tilt (PT), and pelvic incidence...
August 2024: Journal of Orthopaedics
https://read.qxmd.com/read/38566572/mir-129-5p-inhibits-anchorage-independent-growth-through-silencing-of-actn1-and-the-elk4-c-fos-axis-in-hpv-transformed-keratinocytes
#14
JOURNAL ARTICLE
Angelina Huseinovic, Mengfei Xu, Annelieke Jaspers, Brigitte Bais, Renske D M Steenbergen
A persistent infection with human papillomavirus (HPV) can induce precancerous lesions of the cervix that may ultimately develop into cancer. Cervical cancer development has been linked to altered microRNA (miRNA) expression, with miRNAs regulating anchorage-independent growth being particularly important for the progression of precancerous lesions to cancer. In this study, we set out to identify and validate targets of miR-129-5p, a previously identified tumor suppressive miRNA involved in anchorage-independent growth and HPV-induced carcinogenesis...
April 2024: Journal of Medical Virology
https://read.qxmd.com/read/38563856/comparative-analysis-of-the-spatial-distribution-of-brain-metastases-across-several-primary-cancers-using-machine-learning-and-deep-learning-models
#15
JOURNAL ARTICLE
Saeedeh Mahmoodifar, Dhiraj J Pangal, Josh Neman, Gabriel Zada, Jeremy Mason, Bodour Salhia, Tehila Kaisman-Elbaz, Selcuk Peker, Yavuz Samanci, Andréanne Hamel, David Mathieu, Manjul Tripathi, Jason Sheehan, Stylianos Pikis, Georgios Mantziaris, Paul K Newton
OBJECTIVE: Brain metastases (BM) are associated with poor prognosis and increased mortality rates, making them a significant clinical challenge. Studying BMs can aid in improving early detection and monitoring. Systematic comparisons of anatomical distributions of BM from different primary cancers, however, remain largely unavailable. METHODS: To test the hypothesis that anatomical BM distributions differ based on primary cancer type, we analyze the spatial coordinates of BMs for five different primary cancer types along principal component (PC) axes...
April 2, 2024: Journal of Neuro-oncology
https://read.qxmd.com/read/38563648/shallow-trochlear-groove-and-narrow-medial-trochlear-width-at-the-proximal-trochlea-in-patients-with-trochlear-dysplasia-a%C3%A2-three-dimensional-computed-tomography-analysis
#16
JOURNAL ARTICLE
Joon Young Lee, Sung Eun Kim, Oh Hyo Kwon, Youngjun Kim, Tae-Geun Son, Hyuk-Soo Han, Du Hyun Ro
PURPOSE: Although the Dejour classification is the primary classification system for evaluating trochlear dysplasia, concerns have been raised about its reliability owing to its qualitative criteria and challenges associated with obtaining accurate radiographs. This study aimed to quantify trochlear dysplasia using three-dimensional (3D) computed tomography (CT) reconstruction with novel parameters related to the transepicondylar axis (TEA). METHODS: Sixty patients were enrolled, including 20 with trochlear dysplasia and 40 healthy controls...
April 2, 2024: Knee Surgery, Sports Traumatology, Arthroscopy
https://read.qxmd.com/read/38560258/quality-criteria-chemical-composition-and-antimicrobial-activity-of-the-essential-oil-of-mentha-suaveolens-ehrh
#17
JOURNAL ARTICLE
Moha Afrokh, Khadija El Mehrach, Khalid Chatoui, Mohamed Ait Bihi, Hajar Sadki, Abdelkader Zarrouk, Mohamed Tabyaoui, Saida Tahrouch
The aim of the present study is the valorization of the essential oil of Mentha suaveolens Ehrh. The research plan and methods included 3-axis: the first axis consists of studying the organoleptic and physicochemical characterization of the essential oil, the second is the chemical analysis carried out by Gas Chromatography/Mass Spectrometry (GC/MS) and the third consists of evaluating its antimicrobial activity against selected microorganisms. The results obtained for the organoleptic and physicochemical properties are as follows: appearance: Liquid, mobile and clear, odor: Strong odor characteristic of Mentha suaveolens Ehrh, color: Pale yellow; relative density (0...
April 15, 2024: Heliyon
https://read.qxmd.com/read/38555537/the-relationship-between-spirituality-and-religiosity-with-death-anxiety-among-cancer-patients-a-systematic-review
#18
JOURNAL ARTICLE
Mohammad Ali Heidari Gorji, Pooyan Ghorbani Vajargah, Kobra Salami Kohan, Amirabbas Mollaei, Atefeh Falakdami, Amir Hossein Goudarzian, Poorya Takasi, Amir Emami Zeydi, Joseph Osuji, Fateme Jafaraghaee, Mozhgan Taebi, Samad Karkhah
This systematic review aimed to summarize the evidence regarding the relationship between spirituality and religiosity with death anxiety (DA) among cancer patients. This systematic review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) checklist. An extensive search was conducted on electronic databases such as Scopus, PubMed, Web of Science, Iranmedex, and Scientific Information Database (SID) via keywords extracted from Medical Subject Headings from the earliest to February 9, 2022...
March 31, 2024: Journal of Religion and Health
https://read.qxmd.com/read/38549059/comparative-genomic-analysis-of-the-growth-regulating-factors-interacting-factors-gifs-in-six-salicaceae-species-and-functional-analysis-of-pegif3-reveals-their-regulatory-role-in-populus-heteromorphic-leaves
#19
JOURNAL ARTICLE
Yuqi Yang, Jianhao Sun, Chen Qiu, Peipei Jiao, Houling Wang, Zhihua Wu, Zhijun Li
BACKGROUND: The growth-regulating factor-interacting factor (GIF) gene family plays a vital role in regulating plant growth and development, particularly in controlling leaf, seed, and root meristem homeostasis. However, the regulatory mechanism of heteromorphic leaves by GIF genes in Populus euphratica as an important adaptative trait of heteromorphic leaves in response to desert environment remains unknown. RESULTS: This study aimed to identify and characterize the GIF genes in P...
March 28, 2024: BMC Genomics
https://read.qxmd.com/read/38547546/integrating-cine-epid-dynamic-delivery-and-the-off-axis-winston-lutz-test-to-enhance-quality-control-in-multiple-brain-metastasis-stereotactic-radiotherapy
#20
JOURNAL ARTICLE
Paul Retif, Abdourahamane Djibo Sidikou, Alexandre Waltener, Romain Letellier, Anwar Al Salah, Estelle Pfletschinger, Fabian Taesch, Emilie Verrecchia-Ramos, Xavier Michel
PURPOSE: Stereotactic radiotherapy (SRT) has transformed cancer treatment, especially for brain metastases. Ensuring accurate SRT delivery is crucial, with the Winston-Lutz test being an important quality control tool. Off-axis Winston-Lutz (OAWL) tests are designed for accuracy assessment, but most are limited to fixed angles and hampered by local-field shifts caused by suboptimal Multi-Leaf Collimator (MLC) positioning. This study introduces a new OAWL approach for quality control in multi-brain-metastasis SRT...
March 27, 2024: Physica Medica: PM
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