Results 151 to 160 of about 317,186 (262)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Sex-specific trends in ventricular arrhythmias among European implantable cardioverter-defibrillator recipients. [PDF]

Europace
Papa A, Yap SC, Kühne M, Sticherling C, Mahfoud F, Theuns DAMJ, Schaer B.   +6 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Validation of Claims-Based Algorithms for Identifying Congenital Urinary Tract, Genital, Gastrointestinal, and Musculoskeletal Malformations. [PDF]

Pharmacoepidemiol Drug Saf
Fung K, Leonard SA, Huybrechts KF, Hernandez-Diaz S, Bateman BT, Straub L, Sujan A, Gray KJ, Andersen K, Chen EY, El-Tayeb K, Jeancharles M, Mootz AA, Winkler AE, Fernando AM, Qin CX, Stockert EW, Mogun H, Zhu Y.   +18 more
europepmc   +1 more source

Clinical pathway data engineering framework (CPDEF): a reproducible methodology for constructing machine learning-ready case-mix datasets from hospital information systems. [PDF]

MethodsX
Nugroho S, Ginardi RVH, Purnama IKE.
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Risk of stroke in SLE: a systematic review and meta-analysis. [PDF]

Lupus Sci Med
Zhang J, Shi W, Xu Y, Li D, Chen W, Huang L, Li X, Wang Q.   +7 more
europepmc   +1 more source

Biologics Adoption in CRSwNP and the Associated Decline in Endoscopic Sinus Surgery: A Longitudinal Claims Database Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologic treatments were introduced for chronic rhinosinusitis with nasal polyps (CRSwNP) in 2019. Treatment algorithms for medically refractory CRSwNP remain open, with patients choosing among surgery, biologics, or both. Real‐world utilization of surgery and biologics remains incompletely characterized.
Stephanie Shintani Smith, Sam L. Kaefer, Harsh Duvvuru, Robert C. Kern, Brent A. Senior, Vijay R. Ramakrishnan   +5 more
wiley   +1 more source

A Cumulative Electrical Risk Score Is Associated with Appropriate ICD Therapy in Primary-Prevention Patients with Reduced Ejection Fraction: A Single-Center Retrospective Study. [PDF]

J Clin Med
Ersoysal MR, Avcı R, Kumtaş FH, Çağırcı G.   +3 more
europepmc   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source