She asserts the need for dermatologists to consider the range of characteristics to make a diagnosis of a rare or uncommon condition in children. Several conditions she encountered include the Kawasaki syndrome, lipoid protei...
Branchio-oto-renal syndrome will no longer be a problem for Jaren — the condition will not recur in the new kidney, Malaga-Dieguez said, and his other conditions related to the syndrome, like hearing loss, have been treated. Munari said his son is "a different person" thanks to ...
Aim: The aim was to describe the nature, frequency, severity and management challenges of symptoms in children with two rare life-limiting conditions [Mucopolysaccharide (MPS) and Batten disease].Methods: This was an embedded mixed-method study set in the UK between 2009 and 2011. Twenty-six ...
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 ...
The term childhood dementia is not ubiquitously employed as standard throughout the medical literature. Conditions that cause progressive cognitive decline in childhood have been grouped as 'progressive intellectual and neurological deterioration' (PIND) in children [7], progressive childhood encephalopathy ...
"The team approach allows us to deal with unusual conditions," Dr. Kane explains. "We come up with a specialized plan for each patient to follow." Expert care at Children's Health With CCD, children often have multiple impacted teeth that do not come in or erupt on their own, as well...
As the largest single insurer of children in the United States, Medicaid has a particularly important role in coverage and reimbursement for many orphan drugs, especially those that treat ultra-rare conditions. Among the 50 most costly drugs to state Medicaid programs, 11 (22%) had orphan drug...
Caregiving Interactions and Behaviors in the Care of Children with Rare Genetic or Undiagnosed Conditions 来自 EBSCO 喜欢 0 阅读量: 7 作者:LM Koehly,S Ashida,S Sumrall,S Hyman 摘要: Previous literature documented that interpersonal strain arising from caregiving roles can negatively impact caregivers...
Since the International Human Genome Project was completed1, a great deal of effort has been devoted to discovering, cataloguing and haplotyping common nucleotide sequence variants in populations by targeted sequencing and SNP arrays, such as in the International HapMap Project2. The knowledge of thes...
2. Children’s diagnosis, medical follow-up, local welfare services and school conditions. 3. Parents’ satisfaction and experience of participation in designing the services. 4. Children’s HRQOL (PedsQL) reported by both the parents and the children. 5. Parents’ satisfaction with life (SWLS...