Results 91 to 100 of about 7,785,903 (293)

Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement

Frontiers in Genetics
PurposeClinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges.
Kerstin Hundal, Courtney L. Scherr, Hoda Fakhari, Sanjana Ramesh, Lisa Dellefave-Castillo, Deb Duquette, Sara Cherny, Elizabeth M. McNally, Gregory Webster, Laura J. Rasmussen-Torvik, Laura J. Rasmussen-Torvik   +10 more
doaj   +1 more source

Association Between Individualized Education for Kidney Replacement Therapy Modality Selection and Peritoneal Dialysis Initiation: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) is an established home‐based kidney replacement therapy (KRT), but its uptake remains low in Japan. We evaluated whether individualized education in a dedicated outpatient clinic was associated with the initiation of PD.
Yasuko Ito, Ryuichi Yoshimura, Takaki Yamauchi, Yuta Funakoshi, Hirotaka Sonoda, Seiji Kobayashi, Hiroyuki Terawaki, Takafumi Ito   +7 more
wiley   +1 more source

Effect of DFPP on Ferroptosis in Peripheral Blood CD14+ Monocytes of Hyperlipidemic Patients Involving the ACSL4/LPCAT3/ALOX5 Pathway

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng, Lan Li, Qingmei Yang, Meipeng Wu   +3 more
wiley   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case

Clinical Case Reports
We report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic ...
Giavanna Verdi, Aleksandra Foksinska, Elizabeth L. Nichols, Erinn O. Schmit, Andrew Watson, Madeline Eckenrode, Nathaniel H. Robin   +6 more
doaj   +1 more source

Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

罕见病研究
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan   +8 more
doaj   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Canine Genetics 2

, 2023
This Special Issue will cover all aspects of canine genetics, including studies on domestication and breed development, genetic diversity in domesticated and wild canine populations, genetic determinants of morphology and coat color, behavioral genetics,

core  

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source

Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort

JACC: Basic to Translational Science
Summary: Lipoprotein(a) (Lp[a]) is a genetic and often unmeasured contributor to atherosclerotic cardiovascular disease (ASCVD) risk. In this study, Lp(a) was estimated from exome data by quantifying Kringle IV subtype 2 repeats alongside a single ...
Natalie Telis, PhD, Hang Dai, PhD, Ashley Waring, MD, David Kann, MD, Dana Wyman, PhD, Simon White, MSc, Basil Khuder, MS, Francisco Tanudjaja, BS, Alexandre Bolze, PhD, Matthew E. Levy, PhD, Cassie Hajek, MD, Lisa M. McEwen, PhD, Douglas Stoller, MD, Christopher N. Chapman, MD, C. Anwar A. Chahal, MD, PhD, Daniel P. Judge, MD, Douglas A. Olson, MD, Joseph J. Grzymski, PhD, Nicole L. Washington, PhD, William Lee, PhD, Elizabeth T. Cirulli, PhD, Shishi Luo, PhD, Kelly Schiabor Barrett, PhD   +22 more
doaj   +1 more source