Renal Ultrasound in Children With Rare Genetic SyndromesEdith Abramovici
In the future, stratified therapy for rare paediatric disease based on the specific genetic diagnosis is likely to be possible, and effective and affordable therapies are likely to become available through drug repurposing and innovation.Abstract The majority of rare diseases affect children, most of ...
Published inEMBO Reports, the rigorous study's results could likely have broader impact, potentially brightening treatment prospects for other rare X-linked neurodevelopmental syndromes. "The study of rare diseases of neurodevelopmental disorders and cognitive impairments advances our understanding of underlyin...
The incidence of childhood glaucoma is 1 in 10,000 to 68,000 live births. A new case of primary congenital glaucoma is diagnosed about once every 5 years in a general ophthalmology center in North America or Western Europe [4–6]. The highest prevalence of childhood glaucoma has been record...
In a country like India where such children can succumb to life threatening infections, one must not waste time is searching for unrelated donor but plan a haploidentical transplant. We report two such rare cases first being Wiskott Aldrich Syndrome and second Chediak Higashi Syndrome who underwent...
(p = 0.0004021). Although there is no statistically significant difference for muscular phenotype between children and adults, this phenotype is more common in adults. It has been previously reported that adults are more likely to present with classical PMD syndromes, whereas children present ...
Spontaneous remission in adults with primary myelodysplastic syndromes Transient monosomy 7: a case series in children and review of the literature. Cancer 1999;85:2655-2661.Marisavljevic D, Rolovic Z, Ludoski-Pantic M... D Marisavljevic,Z Rolovi?,M Ludo?Ki-Panti?,... - 《Medical Oncolog...
Moreover, given that PD is genetically inherited, parents harbor concerns about the potential transmission of the disorder to their other children. This concern can lead to guilt in one of the parents, who may perceive themselves as the cause of the condition [14]. The siblings, in turn, ma...
I can hear you”: How Illness Perceptions Shape the Identity of Children with Rare Diseases by Lois Williams, Medical Student, University College London (UCL) In her essay, Lois explores the lasting implications of illness perceptions, after the elusive diagnosis is found. ...
Syndromes with features that overlap with other diseases usually must be verified from genetic or epigenetic investigations on individual patients suspected of the disease [21]. Thus their incidence and prevalence, such as in the case of Wolf–Hirschhorn syndrome with an incidence rate between 1/20...