Results 111 to 120 of about 107,620 (262)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Transcranial Color‐Coded Duplex Sonography in Large‐Vessel Vasculitis Compatible With Takayasu Arteritis Presenting Intracranial Involvement and Vertebrobasilar Dolichoectasia: A Case Report

Journal of Clinical Ultrasound, EarlyView.
This case illustrates sequential intracranial occlusions in large‐vessel vasculitis compatible with Takayasu arteritis preserving perfusion through robust collateral pathways. Transcranial color‐coded duplex sonography identified characteristic blunted flow patterns and focal turbulence, underscoring its value in detecting hemodynamic compromise beyond
Maria Júnia Lira e Silva, Jordana Gaudie Gurian, Isabella Mesquita Venâncio, Eva Carolina Rocha, Gisele Sampaio Silva   +4 more
wiley   +1 more source

Clinical progress note: Mumps

Journal of Hospital Medicine, EarlyView.
Abstract Mumps was a common childhood viral illness before the implementation of the measles, mumps, and rubella (MMR) vaccination in 1967. There was a significant decrease in mumps cases in the postvaccine era; however, there has been an increase in outbreaks in the United States over the past two decades.
Sarah Ludvigsen, Mati Segev
wiley   +1 more source

Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Hereditary polyposis syndromes in children are rare, heterogeneous disorders associated with significant morbidity and long‐term risk of malignancy. Current data on their presentation, management, and outcomes in pediatric populations remain limited.
Shlomi Cohen, Tal Cozacov, Ilana Weintraub, Ron Shaoul, Oren Ledder, Dotan Yogev, Mordechai Slae, Ranya Egbarieh, Galina Ling, Anat Yerushalmy‐Feler   +9 more
wiley   +1 more source

Coping Practices of Small‐ and Medium‐Sized Enterprises Facing Power Asymmetry in Digital Platform Business

Strategic Change, EarlyView.
ABSTRACT Digital platform (DP) enterprises have risen to the top of the global economy by inverting traditional business models. They earn money through matchmaking, transaction facilitation, and efficient orchestration of other stakeholders' resources.
Lukas R. G. Fitz, Jochen Scheeg
wiley   +1 more source

Constitutional <i>BRCA1</i> Promoter Methylation in Patients With Ovarian Cancer: Results of the Observational AGO-TR1 Study. [PDF]

JCO Precis Oncol
Kayali M, Hahnen E, Burges A, Reuss A, Caro-Valenzuela J, de Gregorio N, Heitz F, Schmidt S, Marmé F, Hilpert F, Wimberger P, Kommoss S, Prieske K, Engel C, Buderath P, Dietrich D, Schmutzler R, Sehouli J, Rhiem K, Harter P, Hauke J.   +20 more
europepmc   +1 more source

Early surgery, meniscal injury and physiologic contralateral knee extension deficit are associated with extension loss prior to anterior cruciate ligament reconstruction

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose To identify factors associated with knee extension loss prior to anterior cruciate ligament (ACL) reconstruction (ACLR). Methods Patients without concomitant ligament injuries who underwent primary ACLR at the Capio Artro Clinic, Stockholm, Sweden, between 1 January 2002 and 31 December 2023, were eligible for inclusion. The outcome of
Riccardo Cristiani, Erik Sandström, Christoffer von Essen, Eric Hamrin Senorski, Kristian Samuelsson, Anders Stålman, Christina Mikkelsen   +6 more
wiley   +1 more source

<i>MLH1</i> Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level. [PDF]

Hum Mutat
Facon C, Vermaut C, Delattre L, Flament C, Dardenne A, Brahimi A, Lejeune S, Cattan S, Bonnet F, Basset N, Bensen A, Dupré A, Berthet P, Dhooge M, Colas C, Mouret-Fourme E, Delhomelle H, Nambot S, Baurand A, Planes M, Menjard J, Benusiglio PR, Pigny P, Buisine MP, Leclerc J.   +24 more
europepmc   +1 more source

Managing the meniscus Part 2: Traumatic tear patterns, biologic augmentation, transplantation, innovation and future research

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Acute, traumatic meniscus tears are common and should be repaired whenever possible. However, the biological age of the patient, along with the specific tear morphology, may significantly influence the selection of the repair technique, expected clinical outcomes and the postoperative rehabilitation protocol.
Armin Runer, Matthew P. Kolevar, Ehab M. Nazzal, Jonathan D. Hughes, Sebastian Kopf, Aaron J. Krych, Michael T. Hirschmann, Robert F. LaPrade, Alan Getgood, Tim Spalding, Robert Prill, Maria Tuca, Matthieu Ollivier, Sebastian Siebenlist, Sachin Tapasvi, Volker Musahl   +15 more
wiley   +1 more source

Administrative Restructuring Versus Product Safety: The Case for Subsequent Importer Scheme (SIS) in Importer Constitutional Changes. [PDF]

Cureus
Sankhyayan AS.
europepmc   +1 more source