Results 131 to 140 of about 2,055,751 (358)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Moyamoya Disease and the Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo, Jeong‐Yong Shin, Rugyeom Lee, Jiwon Cheon, Ji Hun Kim, Doeun Kim, Jae‐Kyung Won, In‐Hwan Oh, Yunjong Lee, Tae‐Beom Ahn   +9 more
wiley   +1 more source

Primary Renal Lymphoma Presenting as End-Stage Renal Disease. [PDF]

, 2017
Primary renal lymphoma is a rare entity, even more so in children. Children with primary renal lymphoma present with variable clinical features such as constitutional signs and symptoms, acute kidney injury, palpable abdominal masses, and gross hematuria.
Butani, Lavjay, Ducore, Jonathan
core   +3 more sources

Averting the legacy of kidney disease: focus on childhood [PDF]

, 2016
World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among ...
Franz Schaefer, Julie R. Ingelfinger, Kamyar Kalantar-Zadeh, null null   +3 more
core   +6 more sources

Monogenic Kidney Diseases in Kidney Transplantation

Kidney International Reports
Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases (ESKDs) in adults, and in 70 % of pediatric patients. When these disorders lead to kidney failure (KF), kidney transplantation (KT) is the preferred mode of replacement therapy.
Gillion, Valentine, Devresse, Arnaud, Olinger, Eric, Dahlqvist, Géraldine, Demoulin, Nathalie, Godefroid, Nathalie, Claes, Kathleen, Devuyst, Olivier, Kanaan, Nada   +8 more
openaire   +4 more sources

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Updated Oxford classification and the international study of kidney disease in children classification: application in predicting outcome of Henoch-Schönlein purpura nephritis

Diagnostic Pathology, 2019
Background Henoch-Schönlein purpura nephritis (HSPN) shares many similarities with IgA nephropathy. We aimed to analyze the predictive value of the International Study of Kidney Disease in Children (ISKDC) classification and the updated Oxford ...
Xiaohan Huang, Lili Ma, Pingping Ren, Hongya Wang, Liangliang Chen, Haidongqin Han, Jianghua Chen, Fei Han   +7 more
doaj   +1 more source

On the changes in glomeruli and arteries in inflammatory and arterio‐sclerotic kidney disease [PDF]

, 1911
J. F. Gaskell
openalex   +1 more source

Life on the list: an exploratory study of the life world of individuals waiting for a kidney transplant

, 2010
Kidney transplantation is the treatment of choice for many individuals with end stage renal disease (ESRD), as transplantation is reported to offer a greater quality of life than renal dialysis.
Addington-Hall, Julia, Frankland, Jane, Long-Sutehall, Tracy, Mason, Juan, Sque, Magi   +4 more
core  

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source