Results 281 to 290 of about 221,273 (329)

Albuminuria Predicts a Rapid Decline in Kidney Function in 2 International, Longitudinal Cohorts of Adults With Sickle Cell Anemia

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Chronic kidney disease (CKD) is common and a major contributor to increased morbidity and early mortality in people with sickle cell anemia (SCA). Urine albumin‐to‐creatinine ratio (uACR) is recommended to identify patients with SCA‐related CKD but its utility in predicting long‐term kidney dysfunction remains unclear in this patient ...
Pablo Bartolucci   +12 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

External Validation of a Multivariable Diagnostic Prediction Model for Acute Invasive Fungal Rhinosinusitis in Tertiary Care Settings

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Prompt detection and intervention are crucial for improving outcomes in acute invasive fungal rhinosinusitis (AIFS). Diagnostic prediction models assist in risk‐stratification, but their accuracy requires testing through external validation.
Aviv Spillinger   +7 more
wiley   +1 more source

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