Publications by authors named "Nadja Kaiser"
Article Synopsis
- * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
- * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
Article Synopsis
- Early diagnosis and treatment are crucial for improving outcomes in infants with spinal muscular atrophy (SMA), leading to the implementation of newborn screening programs, but there is a lack of robust data confirming their benefits.* -
- This study compared SMA patients diagnosed through newborn screening to those diagnosed after symptoms appeared, using data from 234 children across Germany, Austria, and Switzerland from the SMARTCARE registry.* -
- Results showed that infants identified through newborn screening started treatment significantly earlier (average 1.3 months) than those diagnosed by symptoms (average 10.7 months), leading to better motor milestones, such as higher rates of independent sitting and walking.*
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder primarily affecting the white matter of the nervous system that results from a deficiency of the arylsulfatase A (ARSA). Mesenchymal stem cells (MSCs) are able to secrete ARSA and have shown beneficial effects in MLD patients. In this retrospective analysis, 10 pediatric MLD patients [mesenchymal stem cell group (MSCG)] underwent allogeneic hematopoietic stem cell transplantation (HSCT) and received two applications of 2 × 10 MSCs/kg bodyweight at day +30 and +60 after HSCT between 2007 and 2018.
View Article and Find Full Text PDFObjectives: We aimed to determine the neurocognitive development of cleft palate patients with and without Robin sequence (RS).
Materials And Methods: Children with isolated RS with cleft palate and children with cleft palate only (CPO) were contacted at the age of 5-6 years. All RS children had undergone initial polygraphic sleep study (PG) with a mixed-obstructive apnea index (MOAI) of ≥ 3/h and were consequently treated with the Tuebingen palatal plate.
Objective: To compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.
Methods: Clinical, genetic, and biochemical parameters were analyzed within a nationwide study of patients with late-infantile (LI; onset age ≤2.5 years), early-juvenile (EJ; onset age 2.
Background: Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the course of the disease remain to be elucidated.
Results: In this study, the clinical course was evaluated over the first 24 months following HSCT, conducted at our center in 12 children with juvenile MLD (mean follow-up 6.75 years, range 3-13.