Publications by authors named "A Kessel"
(1) Background: Participation in daily activities is critical for a child's health, development and wellbeing and is considered a main outcome measure of intervention efficiency. Atopic diseases affect children's daily life and routines but the knowledge about impacts on participation is limited. (2) Objectives: a.
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- Hypomyelinating leukodystrophies are genetic disorders with severe myelin deficiency, resulting in developmental delays, nystagmus, hypotonia, spasticity, and ataxia.
- Variants in the HSP60 chaperonin protein have been linked to various neurological disorders, and recent findings highlight a group of patients with new heterozygous variants related to a unique hypomyelinating disorder.
- Clinical evaluations and genetic assays in a study of three patients showed early symptoms of nystagmus and hypotonia that progressed to spasticity, confirming that defective chaperonin assembly likely contributes to these disorders.
Article Synopsis
- The study investigates the impact of vasopressin versus other vasopressors (like norepinephrine and epinephrine) on kidney outcomes in children and young adults undergoing continuous renal replacement therapy (CRRT).
- Data was analyzed from a multicenter cohort including 1,016 patients under 25 years in pediatric intensive care units (PICUs) over nearly seven years.
- Results show that vasopressin use is linked to higher risks of major adverse kidney events (MAKE-90), especially when started later in the CRRT process, indicating potential negative effects on kidney health.
Transparent photovoltaics are garnering significant interest for power generation in applications where light transmission is required. Metal halide perovskites have emerged as one of the most lucrative material classes for such device architectures due to their exceptional optoelectronic properties, and compositional versatility enabling a wide range of transparency levels. While research has primarily focused on semitransparent solar cell architectures, their colored appearance, and efficiency limitations hinder their practical applicability.
View Article and Find Full Text PDFMutations in the gene (S phase Cyclin A-Associated Protein residing in the Endoplasmic Reticulum) have recently been associated with retinitis pigmentosa (RP) and intellectual disability (ID). In 2011, a possible involvement of in human diseases was discovered for the first time due to the identification of a homozygous mutation causing ID in an Iranian family. Later, five studies were published in 2019 that described patients with autosomal recessive syndromic retinitis pigmentosa (arRP) accompanied by ID and attention-deficit/hyperactivity disorder (ADHD).
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