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 …

[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 …

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 …

Single dose of rituximab for refractory steroid-dependent nephrotic syndrome in children

K Kamei, S Ito, K Nozu, S Fujinaga, M Nakayama… - Pediatric …, 2009 - Springer
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 …

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 …

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 …

[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 …

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 …

HNF1B alterations associated with congenital anomalies of the kidney and urinary tract

M Nakayama, K Nozu, Y Goto, K Kamei, S Ito… - Pediatric …, 2010 - Springer
Hepatocyte nuclear factor 1β (HNF1β) abnormalities have been recognized to cause
congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting …

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

DA Braun, S Shril, A Sinha, R Schneider… - American journal of …, 2018 - Wiley Online Library
Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …