Results 41 to 50 of about 48,474 (154)
Behavioral profiles of children with infantile nephropathic cystinosis [PDF]
Developmental Medicine & Child Neurology, 2005 Children with infantile nephropathic cystinosis have evidence of visuospatial and arithmetic deficits on a background of normal intellectual and verbal skills. This study aimed to define further their behavioral phenotype. The Achenbach Child Behavior Checklist was completed by parents of: 64 children and adolescents with cystinosis (33 females, 31 ...
Gustavo, Delgado +4 more
openaire +2 more sources
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +1 more source
Acta Ophthalmologica, Volume 99, Issue 2, Page e189-e195, March 2021., 2021 Abstract Purpose The purpose of the present study was to establish a semi‐automated threshold‐based image segmentation algorithm to detect and objectively quantify corneal cystine crystal deposition in ocular cystinosis with anterior segment optical coherence tomography (AS‐OCT).
Leonie Keidel +27 more
wiley +1 more source
Human Pathology Reports, 2022 We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen +8 more
doaj +1 more source
Clinical Genetics, Volume 99, Issue 2, Page 236-249, February 2021., 2021 Abstract Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next‐generation sequencing gene panel including 203 genes associated with kidney disease, as
Jiyoung Oh +5 more
wiley +1 more source
Newborn Screening: Review of its Impact for Cystinosis
Cells, 2022 Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner +5 more
doaj +1 more source
Spectrum of histopathological findings in pediatric renal biopsies; a five-year single center experience in Egypt [PDF]
Journal of Nephropathology, 2023 Introduction: Medical renal diseases stand as one of the major health problems in pediatric age group considering its morbidity/mortality and the subsequent management plans.
Wael Mostafa Hamza +3 more
doaj +1 more source
Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis [PDF]
, 2021 Nephropathic cystinosis is a severe, monogenic systemic disorder that presents early in life and leads to progressive organ damage, particularly affecting the kidneys.
Afd Pharmacology +6 more
core +2 more sources
Clinical myopathy in patients with nephropathic cystinosis [PDF]
, 2020 BackgroundNephropathic cystinosis is a lysosomal storage disorder. Patient survival years after renal transplantation has revealed systemic complications including distal myopathy and dysphagia.MethodsWe evaluated 20 adult patients with nephropathic ...
Eichler, Florian +19 more
core +1 more source
Tactile recognition in infantile nephropathy cystinosis [PDF]
Developmental Medicine & Child Neurology, 1997 Previous studies have demonstrated that individuals with cystinosis, an inherited metabolic disorder, have difficulty processing visual information, and may be selectively impaired in the ability to mentally rotate figures, despite having normal IQs and normal primary sensory function.
S, Colah, D A, Trauner
openaire +2 more sources