Enhanced depth imaging optical coherence tomography of the choroid in Vogt–Koyanagi–Harada disease
M Nakayama, H Keino, AA Okada, T Watanabe, W Taki… - Retina, 2012 - journals.lww.com
Purpose: Optical coherence tomography (OCT) using enhanced depth imaging (EDI) allows
evaluation of choroidal thickness. Our objective was to analyze subfoveal choroidal …
evaluation of choroidal thickness. Our objective was to analyze subfoveal choroidal …
[HTML][HTML] Monogenic causes of chronic kidney disease in adults
DM Connaughton, C Kennedy, S Shril, N Mann… - Kidney international, 2019 - Elsevier
Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …
identified, mainly in pediatric populations. The frequency of monogenic causes among …
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
Single dose of rituximab for refractory steroid-dependent nephrotic syndrome in children
We conducted a multicenter prospective trial to evaluate the efficacy, safety and
pharmacokinetics of a single dose of rituximab (375 mg/m 2 body surface area) for the …
pharmacokinetics of a single dose of rituximab (375 mg/m 2 body surface area) for the …
Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract
AT van der Ven, DM Connaughton, H Ityel… - Journal of the …, 2018 - journals.lww.com
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …
Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients
N Mann, DA Braun, K Amann, W Tan… - Journal of the …, 2019 - journals.lww.com
Background Whole-exome sequencing (WES) finds a CKD-related mutation in
approximately 20% of patients presenting with CKD before 25 years of age. Although …
approximately 20% of patients presenting with CKD before 25 years of age. Although …
[HTML][HTML] Three-month outcomes of faricimab loading therapy for wet age-related macular degeneration in Japan
R Mukai, K Kataoka, K Tanaka, Y Miyara, I Maruko… - Scientific Reports, 2023 - nature.com
This multicenter study aimed to assess the short-term effectiveness and safety of faricimab in
treatment-naïve patients with wet age-related macular degeneration (wAMD) in Japan. We …
treatment-naïve patients with wet age-related macular degeneration (wAMD) in Japan. We …
Rituximab for refractory focal segmental glomerulosclerosis
M Nakayama, K Kamei, K Nozu, K Matsuoka… - Pediatric …, 2008 - Springer
We present the cases of two children with steroid-resistant nephrotic syndrome (SRNS) who
were treated with rituximab (anti-CD20 monoclonal antibody). Both were resistant to …
were treated with rituximab (anti-CD20 monoclonal antibody). Both were resistant to …
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract
Hepatocyte nuclear factor 1β (HNF1β) abnormalities have been recognized to cause
congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting …
congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting …
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome
Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …
characterized by neurodevelopmental defects combined with renal‐glomerular disease …