Results 51 to 60 of about 460,117 (268)

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source

Serum Myonectin Levels Are Positively Associated With Physical Function and Lower Frailty‐Related Limitation in Maintenance Hemodialysis Patients: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Maintenance hemodialysis (MHD) patients frequently suffer from frailty, characterized by reduced physical function and poor prognosis. Myokines, such as myonectin, secreted by muscle, are emerging regulators of systemic health. This study investigated the relationship between serum myonectin, adipokines (adiponectin, omentin), and ...
Kenichi Kono, Yoshifumi Moriyama, Koji Ohashi, Naoya Otaka, Minako Tatsumi, Toyoaki Murohara, Noriyuki Ouchi, Satoru Oshima   +7 more
wiley   +1 more source

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Frontiers in Endocrinology
Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function ...
Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Kenichi Yamamoto, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Atsunori Fukuhara, Iichiro Shimomura   +15 more
doaj   +1 more source

Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene

Frontiers in Pediatrics, 2022
Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We herein report a novel large heterozygous
Mayumi Kawase, Mayumi Kawase, Masato Ogawa, Masato Ogawa, Takayuki Hoshina, Masumi Kojiro, Miyuki Nakakuki, Satoru Naruse, Hiroshi Ishiguro, Koichi Kusuhara   +9 more
doaj   +1 more source

Comparative Evaluation of Hemodiafiltration, Hemoperfusion, and Standard Hemodialysis on Efficacy, Inflammatory Control, Dialysis Adequacy, and Safety in End‐Stage Renal Disease: A Prospective Observational Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Chronic micro‐inflammation in patients with end‐stage renal disease (ESRD) is a significant driver of cardiovascular complications and diminished quality of life. While standard hemodialysis (SHD) effectively manages small‐molecule clearance, its ability to remove medium‐to‐large uremic toxins—the primary catalysts of systemic ...
Hongwei Zuo, Weisi Dai, Jie Mao, Mei Ye, Xingshan Lu, Xiaocui Zhang   +5 more
wiley   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source

Safety of Daprodustat for the Treatment of Chronic Kidney Disease Anemia: Final Analysis of a Multicenter Postmarketing Surveillance Study in Japan

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This final analysis of a multicenter, prospective postmarketing surveillance study evaluated the safety of daprodustat in patients with chronic kidney disease anemia in routine clinical practice in Japan. Methods Patients who initiated daprodustat between September 2020 and July 2022 were registered.
Tadao Akizawa, Kyomi Kanaya, Kiyomi Aizawa, Masanori Onoki, Hirofumi Ozeki, Kazuko Suzuki, Ai Hayashi, Tomohiko Asamura   +7 more
wiley   +1 more source

Characterization of a novel variant of Mycobacterium chimaera

Journal of Medical Microbiology, 2012
In this study, nonchromogenic mycobacteria were isolated from pulmonary samples of three patients in the Netherlands. All isolates had identical, unique 16S rRNA gene and 16S-23S ITS sequences, which were closely related to those of Mycobacterium chimaera and Mycobacterium marseillense.
van Ingen, J., Hoefsloot, W., Hoefsloot, W., Buijtels, P.C., Tortoli, E., Supply, P., Dekhuijzen, P.N.R., Boeree, M.J., van Soolingen, D.   +8 more
openaire   +5 more sources

Case Report: A novel likely pathogenic GCK variant in a young Chinese girl with severe insulin resistance

Frontiers in Endocrinology
ObjectiveTo report a novel GCK variant (c.263T>C) identified in a patient with glucokinase-maturity-onset diabetes of the young (GCK-MODY) and to evaluate its pathogenicity and potential structural impact using in silico analyses.
Haoyu Bai, Jie Yu, Tong Wang, Jing Ren, Chuhan Shao, Qian Zhang, Xinhua Xiao   +6 more
doaj   +1 more source

Forecasting the Dialysis Burden in Japan: Validation‐Based Projections of Prevalence and Incidence Through 2050

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Japan has one of the highest dialysis prevalence rates worldwide and a shrinking, aging population. Whether dialysis burden has entered a sustained post‐peak phase or whether recent declines partly reflect pandemic‐related disruptions remains uncertain.
Hatice Şahin, Berrak Itır Aylı, Nüket Paksoy   +2 more
wiley   +1 more source