Results 71 to 80 of about 6,319,608 (297)

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia

Cardiogenetics
Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome.
Alessandra P. Porretta, Etienne Pruvot, Zahurul A. Bhuiyan   +2 more
doaj   +1 more source

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 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

THBS1 identificated as an endometriosis biomarker through evidence from single-cell and bulk transcriptomic profiling

iScience
Summary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang, Junyan Ma, Yuhui Sun, Jue Zhu, Huaqing Yan, Yichen Chen, Jing Zhang   +6 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study

iScience
Summary: Anorectal malformations (ARMs) are congenital anomalies affecting the anus and rectum, with a global incidence of 1 in 5,000 live births. Despite clinical advancements, the genetic basis of ARMs remains largely unknown.
Vandana Suseelan, Anjali Krishna A, Akshaykumar Zawar, P. Santosh Prabhu, Priyamvada Bhatta, Ashish Paliwal, Praveen Mathur, Krishna Mohan Medicherla, Sunil Kumar Polipalli, Prashanth Suravajhala   +9 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +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

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

, 2008
Genetics & HereditySCI(E)0LETTER4391 ...
Zhai, S. Q., Liu, X Z, Feng, G Y, Angeli, S, Qin, W., Wang, Y. F., Feng, L, Feng, G. Y., Yang, S. Z., Han, D Y, Tao, R., Liu, X. Z., Yan, D., Ouyang, X. M., Yang, W Y, Yuan, H. J., Yang, S Z, Qin, W, Ouyang, X M, Dai, P, Yan, D, Yang, W. Y., Sun, H. J., Yuan, H J, Cheng, J, Feng, L., Cao, J. Y., Wang, Y F, Zhai, S Q, Sun, Q., He, L., Angeli, S., Sun, Q, Cao, J Y, Dai, P., Sun, H J, Han, D. Y., Cheng, J., Tao, R, He, L   +39 more
core   +1 more source