Results 121 to 130 of about 189,568 (218)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Quantitative estimation of pleural effusion volume on chest radiography: comparison of radiologists and a general-purpose multimodal AI model using CT as the reference standard. [PDF]

Eur Radiol Exp
Schiller D, Pristoupil J, Polaskova P, Sterclova M, Lambert L.   +4 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Additional Fracture Detection by Computed Tomography After Plain Radiography in Adults with Isolated Foot and Ankle Trauma: A Retrospective Selected-Cohort Study. [PDF]

J Clin Med
Arslan A, Dikici A, Danışman F, Ünal YC, Yıldırım ÖF, Kaya Ş.   +5 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Large-area flat-panel detector versus conventional detector for full-spine digital radiography: a retrospective comparative study. [PDF]

Front Med (Lausanne)
Lin F, Gao Y, Deng W, Ren H.
europepmc   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier, David Remyes, Tenesha Boyd, Ailish Nagpal, Aman M Patel, David W. Wassef, Jean Anderson Eloy   +6 more
wiley   +1 more source

Quantifying the Equine Pain Response to Paracetamol Administration in Horses With Chronic Lameness Already Receiving Non-Steroidal Anti-Inflammatories. [PDF]

Vet Med Sci
Conduit S, Bowen M, Bailey J, Redpath A.
europepmc   +1 more source

Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi‐Institutional Analysis of Predictive Risk Factors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) exhibits variable recurrence patterns, with significant late recurrences occurring years after treatment. We investigated cutoff periods to define late recurrence and identified predictors that distinguish patients at risk of late recurrence from those considered cured.
Alexandria Harris, Anthony Tang, Nicholas Fung, Joao Paulo Almeida, Pierre‐Olivier Champagne, Juan Fernandez‐Miranda, Paul A. Gardner, Peter Hwang, Aristotelis Kalyvas, Chirag Patel, Zara M. Patel, Maria Peris Celda, Carlos D. Pinheiro‐Neto, Olabisi Sanusi, Carl H. Snyderman, Brian D. Thorp, Jamie J. Van Gompel, Georgios Zenonos, Nathan T. Zwagerman, Diana Bell, Edward C. Kuan, Eric W. Wang, Mathew Geltzeiler, Garret Choby   +23 more
wiley   +1 more source

Diagnostic Accuracy of Scintigraphy for Detecting Morphological Variation of the Sixth Cervical Vertebral Ventral Lamina in Horses: A Retrospective Study. [PDF]

Vet Radiol Ultrasound
Mageed M, Dyab S, Przewoźny M.
europepmc   +1 more source