Results 61 to 70 of about 390,058 (293)

Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy [PDF]

, 2019
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD).
Asimaki, A, Basu, J, Behr, ER, Cook, SA, Ensam, B, Finocchiaro, G, Gray, B, Malhotra, A, Miles, C, Papadakis, M, Papatheodorou, E, Parry-Williams, G, Paterson, C, Robertus, JL, Sharma, S, Sheppard, MN, Ster, IC, Tome, M, Ware, JS, Westaby, J, Witney, A   +20 more
core   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta [PDF]

, 2016
BackgroundThe genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin.
Binh, Ho Duy, Kandla, Ivo, Koks, Sulev, Maasalu, Katre, Martson, Aare, Prans, Ele, Reimann, Ene, Zhytnik, Lidiia   +7 more
core   +1 more source

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic VariantsPlain-Language Summary

Kidney Medicine, 2021
Rationale & Objective: Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease.
Cole Shulman, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, Michelle Hladunewich, York Pei, Judy Savige, Andrew D. Paterson, Mary Ann Suico, Hirofumi Kai, Moumita Barua   +13 more
doaj   +1 more source

Japanese pathogenic variant database: DPV

Translational Science of Rare Diseases, 2018
Databases of pathogenic variants form the basis for clinical genomic diagnosis using next-generation sequencers. ClinVar and the Human Gene Mutation Database (HGMD) are two major databases for pathogenic variants. However, ethnic diversity in the distributions of pathogenic variants in these databases has been observed; thus, geographic region ...
Suzuki, Hisato, Kurosawa, Kenji, Fukuda, Keiichi, Ijima, Kazumoto, Sumazaki, Ryo, Saito, Shinji, Kosaki, Rika, Hirasawa, Akira, Okazaki, Yasushi, Imai, Kohsuke, Matsunaga, Tatsuo, Iwata, Takeshi, Kosaki, Kenjiro   +12 more
openaire   +2 more sources

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains

Biomedicines, 2022
Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. Here, we examined the role and genotype–phenotype correlation of MYO7A in ADHL.
Sun Young Joo, Gina Na, Jung Ah Kim, Jee Eun Yoo, Da Hye Kim, Se Jin Kim, Seung Hyun Jang, Seyoung Yu, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Jung   +11 more
doaj   +1 more source

Genetic risk for aortic aneurysm in adolescent idiopathic scoliosis [PDF]

, 2015
BACKGROUND: Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome.
Alvarado, David M, Braverman, Alan C, Bridwell, Keith H, Dobbs, Matthew B, Gurnett, Christina A, Haller, Gabe, Kelly, Michael, Lenke, Lawrence G, Luhmann, Scott J, Willing, Marcia C   +9 more
core   +2 more sources