Results 131 to 140 of about 300,221 (286)
AGING MEDICINE, EarlyView.This predictive model divides the low ASMI into three risk categories. Older adults in the low‐risk category, for whom SMM measurement is probably unnecessary. ABSTRACT Objectives Low skeletal muscle mass is associated with adverse clinical outcomes. Due to constraints related to cost and equipment availability, direct measurement of skeletal muscle ...
Minmin Chen +6 more
wiley +1 more source
Annals of Gastroenterological Surgery, EarlyView.NAT‐GS was significantly more effective only in patients with one tumor marker above the reference range, comparing those who achieved 12‐month MRFS with those who did not. ABSTRACT Aim Pancreatic cancer (PC) remains one of the most lethal malignancies, with early recurrence severely affecting prognosis even after curative resection.
Hiromichi Kawaida +9 more
wiley +1 more source
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.This review aims to provide a broad understanding for interdisciplinary researchers in engineering and clinical applications. It addresses the development and control of magnetic actuation systems (MASs) in clinical surgeries and their revolutionary effects in multiple clinical applications.
Yingxin Huo +3 more
wiley +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Arquivos Brasileiros de Cardiologia, 2002 OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients.
Castro Ana Valéria Barros de +8 more
doaj
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin +4 more
wiley +1 more source