keyword
https://read.qxmd.com/read/38536822/immediate-postnatal-prediction-of-death-or-bronchopulmonary-dysplasia-among-very-preterm-and-very-low-birth-weight-infants-based-on-gradient-boosting-decision-trees-algorithm-a-nationwide-database-study-in-japan
#1
JOURNAL ARTICLE
Kota Yoneda, Tomohisa Seki, Yoshimasa Kawazoe, Kazuhiko Ohe, Naoto Takahashi
INTRODUCTION: Bronchopulmonary dysplasia (BPD) poses a substantial global health burden. Individualized treatment strategies based on early prediction of the development of BPD can mitigate preterm birth complications; however, previously suggested predictive models lack early postnatal applicability. We aimed to develop predictive models for BPD and mortality based on immediate postnatal clinical data. METHODS: Clinical information on very preterm and very low birth weight infants born between 2008 and 2018 was extracted from a nationwide Japanese database...
2024: PloS One
https://read.qxmd.com/read/38536515/blood-pressure-in-preterm-infants-with-bronchopulmonary-dysplasia-in-the-first-three-months-of-life
#2
JOURNAL ARTICLE
Judit Klara Kiss, Anna Gajda, Judit Mari, Csaba Bereczki
BACKGROUND: Neonatal hypertension is common in preterm infants with bronchopulmonary dysplasia (BPD). Our study aimed to examine blood pressure variation in the first three months of life in preterm BPD patients. METHODS: We conducted a retrospective, single-centre study at the Neonatal Intensive Care Unit of the University of Szeged, Hungary. We collected blood pressure data from 26 preterm infants (born at < 30 weeks gestation) with moderate or severe BPD over three years (2019-2021)...
March 27, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38535015/congenital-heart-defects-in-patients-with-molecularly-confirmed-sotos-syndrome
#3
JOURNAL ARTICLE
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15-40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported...
March 11, 2024: Diagnostics
https://read.qxmd.com/read/38534782/clinical-genomic-analysis-of-1261-patients-with-ehlers-danlos-syndrome-outlines-an-articulo-autonomic-gene-network-entome
#4
JOURNAL ARTICLE
Golder N Wilson, Vijay S Tonk
Systematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint matrix (49 COL5 ), 39 bone (30 COL1/2/9/11 ), 22 vessel (12 COL3/8VWF) , 43 vessel-heart (17 FBN1 /11 TGFB / BR) , 59 muscle (28 COL6/12 ), 56 neural (16 SCN9A / 10A / 11A ), and 74 autonomic (13 POLG /25porphyria related)...
March 19, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534776/the-influence-of-neurotrophins-on-the-brain-lung-axis-conception-pregnancy-and-neonatal-period
#5
REVIEW
Federica D'Amico, Cecilia Lugarà, Giovanni Luppino, Carlo Giuffrida, Ylenia Giorgianni, Eleonora Maria Patanè, Sara Manti, Antonella Gambadauro, Mariarosaria La Rocca, Tiziana Abbate
Neurotrophins (NTs) are four small proteins produced by both neuronal and non-neuronal cells; they include nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), and neurotrophin-4 (NT-4). NTs can exert their action through both genomic and non-genomic mechanisms by interacting with specific receptors. Initial studies on NTs have identified them only as functional molecules of the nervous system. However, recent research have shown that some tissues and organs (such as the lungs, skin, and skeletal and smooth muscle) as well as some structural cells can secrete and respond to NTs...
March 15, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534443/new-genetic-variants-of-runx2-in-mexican-families-cause-cleidocranial-dysplasia
#6
JOURNAL ARTICLE
Jaime Toral López, Sandra Gómez Martinez, María Del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 ( RUNX2 ) gene...
March 8, 2024: Biology
https://read.qxmd.com/read/38534148/outcomes-of-glenohumeral-dysplasia-after-brachial-plexus-birth-injury-using-the-sup-er-orthosis
#7
JOURNAL ARTICLE
Nathan Khabyeh-Hasbani, Ann Marie Feretti, Victoria Ferrante, Manisha Joshi, Megan Gotleib-Horowitz, Steven M Koehler
We investigated the efficacy of the supination-external rotation ('Sup-ER') orthosis, designed as a non-operative treatment to maintain normal anatomical growth of the shoulder, on the progression of glenohumeral dysplasia in patients with brachial plexus birth injuries. The Sup-ER orthosis was fabricated for 20 infants diagnosed with glenohumeral dysplasia after brachial plexus birth injuries and its success in correcting glenohumeral dysplasia was confirmed by objective calculations of the alpha angle on serial ultrasound findings and improvement in Active Movement Scale scores...
March 27, 2024: Journal of Hand Surgery, European Volume
https://read.qxmd.com/read/38533533/prediction-of-the-labrum-shape-in-patients-with-developmental-dysplasia-of-the-hip-based-on-pelvic-radiography
#8
JOURNAL ARTICLE
Xinyan Huang, Xiang Cheng, Sijie Gao, Yinxin Liu, Yuxi Su, Chuan Feng
BACKGROUND: The shape of the labrum is strongly correlated with outcomes of developmental dysplasia of the hip (DDH). Magnetic resonance imaging (MRI) is the generally preferred imaging technique for observing the labrum. PURPOSE: We aimed to find a correlation between the labrum shape and anterior-posterior (AP) pelvic measurements in children with DDH. METHODS: Preoperative AP pelvic x-ray radiographs and MRI of patients with DDH from January 2019 to December 2021 were retrospectively collected and divided into three groups by labrum shape on MRI: everted, partly inverted, and inverted...
March 27, 2024: Journal of Pediatric Orthopedics
https://read.qxmd.com/read/38533323/equity-in-the-developmental-dysplasia-of-the-hip-ddh-diagnosis-and-treatment-a-retrospective-cohort-study-to-unravel-the-effect-of-area-deprivation-and-the-insurance-type
#9
JOURNAL ARTICLE
Samantha L Ferraro, Sarah Dance, Delara Rajabi, Ahmed Elabd, Sean Tabaie
Background Timely diagnosis of developmental dysplasia of the hip (DDH) is crucial for implementing less invasive treatment. However, socioeconomic barriers may lead to late diagnoses. The Area Deprivation Index (ADI) is an indicator of the socioeconomic challenges experienced by patients and their families. The primary objective is to investigate if the age at which DDH is diagnosed and the treatment protocol are influenced by the ADI or the insurance type. Materials and methods Using International Classification of Diseases-Tenth Edition (ICD-10) codes, newly diagnosed DDH patients (age under 10 years) from 2020 to 2023 were retrospectively identified at our pediatric tertiary center...
March 2024: Curēus
https://read.qxmd.com/read/38533296/retrospective-comparative-analysis-of-neonatal-mortality-and-morbidity-in-preterm-singleton-and-multiple-births-single-center-experience
#10
JOURNAL ARTICLE
Mohammad Alhasoon, Bader Alqahtani, Mohamad Alreefi, Abdulaziz Homedi, Ghadah Alnami, Saif Alsaif, Kamal Ali
Objective. To compare mortality and major neonatal morbidities between singleton preterm infants and preterm infants of multiple gestations born <33 weeks' gestation. Method. Case-control study of preterm multiples and singletons <33 weeks' born at King Abdul-Aziz Medical City Riyadh (KAMC-R) between January 2017 and December 2020. Out-born infants and infants with lethal congenital abnormalities were excluded from the study. Mortality and major neonatal morbidities including bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), sepsis and surgical necrotizing enterocolitis (NEC) were compared between preterm singletons and multiples...
2024: Global Pediatric Health
https://read.qxmd.com/read/38533234/titanium-mesh-cranioplasty-for-cosmetically-disfiguring-cranio-facial-tumours-in-a-resource-limited-setting
#11
JOURNAL ARTICLE
C O Anele, S A Balogun, C O Ezeaku, T O Ajekwu, H E Omon, G O Ejembi, E O Komolafe
BACKGROUND: The aesthetic reconstruction of disfiguring cranio-facial defects after tumour excision can be quite challenging to the neurosurgeon with limited resources. The choice of cranioplasty implant, intraoperative technicalities and the patients' postoperative appearance are critical considerations in management. There are a number of synthetic materials available for cranioplasty, however, the customised implants are not readily available in our practice setup. They are also mostly constructed and contoured after the bony defect has been created or require sophisticated software construction pre-operatively...
July 2024: World neurosurgery: X
https://read.qxmd.com/read/38532826/neuropathology-and-epilepsy-surgery-2024-update
#12
JOURNAL ARTICLE
Ingmar Blümcke
Neuropathology-based studies in neurosurgically resected brain tissue obtained from carefully examined patients with focal epilepsies remain a treasure box for excellent insights into human neuroscience, including avenues to better understand the neurobiology of human brain organization and neuronal hyperexcitability at the cellular level including glio-neuronal interaction. It also allows to translate results from animal models in order to develop personalized treatment strategies in the near future. A nice example of this is the discovery of a new disease entity in 2017, termed mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy or MOGHE, in the frontal lobe of young children with intractable seizures...
January 2024: Free neuropathology
https://read.qxmd.com/read/38532466/the-dejour-classification-for-trochlear-dysplasia-shows-slight-interobserver-and-substantial-intraobserver-reliability
#13
JOURNAL ARTICLE
Juan Pablo Martinez-Cano, Maria Tuca, Alejandro Gallego, Yorlany Rodas-Cortes, William R Post, Betina Hinckel
PURPOSE: Trochlear dysplasia is one of the main risk factors for recurrent patellar dislocation. The Dejour classification identifies four categories that can be used to classify trochlear dysplasia. The purpose of this study is to evaluate the inter- and intraobserver reliability of the Dejour classification for trochlear dysplasia. The hypothesis was that both intra- and interobserver reliability would be at least moderate. METHODS: This is a cross-sectional, reliability study...
March 26, 2024: Knee Surgery, Sports Traumatology, Arthroscopy
https://read.qxmd.com/read/38531627/variant-characterisation-and-clinical-profile-in-a-large-cohort-of-patients-with-ellis-van-creveld-syndrome-and-a-family-with-weyers-acrofacial-dysostosis
#14
JOURNAL ARTICLE
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38530261/effect-of-early-vs-late-inguinal-hernia-repair-on-serious-adverse-event-rates-in-preterm-infants-a-randomized-clinical-trial
#15
JOURNAL ARTICLE
Martin L Blakely, Andrea Krzyzaniak, Melvin S Dassinger, Claudia Pedroza, Jorn-Hendrik Weitkamp, Ankush Gosain, Michael Cotten, Susan R Hintz, Henry Rice, Sherry E Courtney, Kevin P Lally, Namasivayam Ambalavanan, Catherine M Bendel, Kim Chi T Bui, Casey Calkins, Nicole M Chandler, Roshni Dasgupta, Jonathan M Davis, Katherine Deans, Daniel A DeUgarte, Jeffrey Gander, Carl-Christian A Jackson, Martin Keszler, Karen Kling, Stephen J Fenton, Kimberley A Fisher, Tyler Hartman, Eunice Y Huang, Saleem Islam, Frances Koch, Shabnam Lainwala, Aaron Lesher, Monica Lopez, Meghna Misra, Jamie Overbey, Brenda Poindexter, Robert Russell, Steven Stylianos, Douglas Y Tamura, Bradley A Yoder, Donald Lucas, Donald Shaul, P Ben Ham, Colleen Fitzpatrick, Kara Calkins, Aaron Garrison, Diomel de la Cruz, Shahab Abdessalam, Charlotte Kvasnovsky, Bradley J Segura, Joel Shilyansky, Lynne M Smith, Jon E Tyson
IMPORTANCE: Inguinal hernia repair in preterm infants is common and is associated with considerable morbidity. Whether the inguinal hernia should be repaired prior to or after discharge from the neonatal intensive care unit is controversial. OBJECTIVE: To evaluate the safety of early vs late surgical repair for preterm infants with an inguinal hernia. DESIGN, SETTING, AND PARTICIPANTS: A multicenter randomized clinical trial including preterm infants with inguinal hernia diagnosed during initial hospitalization was conducted between September 2013 and April 2021 at 39 US hospitals...
March 26, 2024: JAMA
https://read.qxmd.com/read/38530184/erratum-for-case-316-progressive-pseudorheumatoid-dysplasia
#16
Amit Gupta, Narendra Bagri, Stuti Chandola, Manisha Jana
No abstract text is available yet for this article.
March 2024: Radiology
https://read.qxmd.com/read/38530109/expression-of-aberrant-micrornas-and-p16ink4a-associated-with-hpv-6-11-16-18-31-33-35-42-43-44-45-52-53-and-56-in-oral-dysplasia-and-squamous-cell-carcinoma-a-retrospective-study
#17
JOURNAL ARTICLE
Layla Hafed, Olfat Shaker, Ghada Ayeldeen, Hatem Amer, Gamilah Al-Qadhi
OBJECTIVE: A few studies indicate that human papillomavirus (HPV) induces aberrant expression of microRNAs (miRNAs) and correlate this with p16INK4a in oral dysplasia (OD) and oral squamous cell carcinoma (OSCC). Therefore, this study aimed to evaluate the expression of miRNA-21, miRNA-22, and miRNA-224 by q-PCR and the p16 INK4a by immunohistochemical (IHC) as markers for HPV-positive OSCC and OD in comparison to controls as miRNA expression can be altered by the HPV oncogenes and hence can be used as a biomarker for HPV positive cases...
March 26, 2024: Türk Patoloji Dergisi
https://read.qxmd.com/read/38529905/-fusobacterium-nucleatum-subsp-polymorphum-recovered-from-malignant-and-potentially-malignant-oral-disease-exhibit-heterogeneity-in-adhesion-phenotypes-and-adhesin-gene-copy-number-shaped-by-inter-subspecies-horizontal-gene-transfer-and-recombination-derived
#18
JOURNAL ARTICLE
Claire Crowley, Ajith Selvaraj, Arvind Hariharan, Claire M Healy, Gary P Moran
Fusobacterium nucleatum is an anaerobic commensal of the oral cavity associated with periodontitis and extra-oral diseases, including colorectal cancer. Previous studies have shown an increased relative abundance of this bacterium associated with oral dysplasia or within oral tumours. Using direct culture, we found that 75 % of Fusobacterium species isolated from malignant or potentially malignant oral mucosa were F. nucleatum subsp. polymorphum . Whole genome sequencing and pangenome analysis with Panaroo was carried out on 76 F ...
March 2024: Microbial Genomics
https://read.qxmd.com/read/38529701/impact-of-sex-and-age-on-the-lateralisation-of-the-tibial-tubercle-in-normal-paediatric-and-adolescent-populations
#19
JOURNAL ARTICLE
Jiebo Chen, Lin Sha, Xueying Zhang, Lei Bao, Hai Li, Jinzhong Zhao, Guoming Xie
PURPOSE: Numerous methods have been proposed to characterise tubercle lateralisation. However, their normal values and related changes remain unclear. Accordingly, it was aimed to determine the potential sex and age effects and determined the optimal individualised method of diagnosing lateralisation of the tibial tubercle in patients with recurrent patellar dislocation (RPD). METHODS: Measurements included the tibial tubercle-trochlear groove (TT-TG) distance, tibial tubercle-posterior cruciate ligament (TT-PCL) distance and tibial tubercle lateralisation (TTL); and the proximal tibial width (PTW), trochlear width (TW) and trochlear dysplasia index (TDI), for adjustment...
March 26, 2024: Knee Surgery, Sports Traumatology, Arthroscopy
https://read.qxmd.com/read/38529507/transcriptomic-signature-and-pro-osteoclastic-secreted-factors-of-abnormal-bone-marrow-stromal-cells-in-fibrous-dysplasia
#20
Zachary Michel, Layne N Raborn, Tiahna Spencer, Kristen Pan, Daniel Martin, Kelly L Roszko, Yan Wang, Pamela G Robey, Michael T Collins, Alison M Boyce, Luis Fernandez de Castro Diaz
Fibrous dysplasia (FD) is a mosaic skeletal disorder caused by somatic activating variants in GNAS , encoding for Gα s , which leads to excessive cAMP signaling in bone marrow stromal cells (BMSCs). Despite advancements in our understanding of FD pathophysiology, the effect of Gα s activation in the BMSC transcriptome remains unclear, as well as how this translates into their local influence in the lesional microenvironment. In this study, we analyzed changes induced by Gα s activation in BMSC transcriptome and performed a comprehensive analysis of their production of cytokines and other secreted factors...
February 28, 2024: bioRxiv
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