Publications by authors named "Ymkje Hettinga"
Infectious pediatric uveitis is a rare disease that can cause severe ocular damage if not detected rapidly and treated properly. Additionally, early identification of an infection can protect the child from life-threatening systemic infection. Infectious uveitis can be congenital or acquired and may manifest as a primary ocular infection or as a reactivation.
View Article and Find Full Text PDFThe CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction.
View Article and Find Full Text PDFArticle Synopsis
- The study addresses the challenge of missing heritability in ABCA4-associated Stargardt disease (STGD1) by analyzing genomic variations in 1054 probands.
- Using a cost-effective sequencing method, researchers identified known and novel intronic variants and structural variants, leading to insights about potential causes of the disease.
- The findings revealed that 25% of biallelic STGD1 cases had identifiable genetic causes, demonstrating a model that could aid future research on other inherited diseases.
Importance: Tubulointerstitial nephritis and uveitis (TINU) syndrome is characterized by tubulointerstitial and ocular inflammation. Thus far, the value of noninvasive diagnostic tests is not known.
Objective: To determine whether urinary β2-microglobulin (β2M), urinary protein, and serum creatinine have predictive value for detecting TINU syndrome in young patients with uveitis.
Background/aims: Studies of uveitis in children have focused primarily on non-infectious causes. To date, no systematic study of infectious uveitis in children has been conducted. We investigate the prevalence of infectious causes of uveitis in children and explore the diagnostic value of analysing aqueous humour.
View Article and Find Full Text PDFPurpose: To investigate the clinical characteristics of childhood uveitis leading to visual impairment or blindness.
Methods: In this descriptive study, we reviewed data from the medical records of 58 children with visual impairment or blindness due to childhood uveitis, which were seen at an institute for visually impaired patients (Bartiméus) between January 1981 and December 2012, in a retrospective, cross-sectional manner.
Results: Thirty-two of the 58 children (55%) were visually impaired and 26 (45%) were legally blind.
Importance: It is essential to have insights into the risk of ocular involvement after hematopoietic stem cell transplantation (HSCT) in the pediatric population because young and severely ill children are unaware of their ocular problems.
Objective: To study the development of ocular complications in children within 1 year after HSCT.
Design And Setting: This prospective study includes all consecutive patients who had undergone an HSCT at the Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands, in 2009 and 2010.
Purpose: To determine the prevalence and manifestations of ocular graft-versus-host disease (GvHD) after allogeneic stem cell transplantation (allo-SCT).
Methods: Prospective study of 101 consecutive patients who received allo-SCT from 2004 to 2007. All patients received ophthalmologic examination for 3 months after allo-SCT, and those with ocular complaints were evaluated at 12 and 24 months thereafter.
Purpose: To describe the occurrence of anterior uveitis along with systemic manifestations of chronic graft-versus-host disease (GVHD) after nonmyeloablative allogeneic hematopoietic stem cell transplantation (HSCT) in 3 patients with hematologic malignancies.
Design: Retrospective small case series.
Participants: Three patients who underwent HSCT and 4 age- and gender-matched controls for cytokine analysis in ocular fluid.