Results 81 to 90 of about 3,862,863 (318)

The NeST (Nephrotic Syndrome Trust) App, a novel, co-designed self-management support app for young people and young adults with Nephrotic Syndrome: a multi-method survey reporting initial app development and evaluation

BMC Nephrology
Background There is a need for a user-led, evidence-based digital application (app.) that meets the identified information and support needs and preferences of young people and young adults aged 12–35 years (YP/YA) with Nephrotic Syndrome (NS) in the ...
Moin A. Saleem, Wendy Cook, David Cook, Reihaneh Damghani, Maryam Afzal, Retha Steenkamp, Steve Donovan, Veronica Swallow   +7 more
doaj   +1 more source

Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome [PDF]

, 2012
Loey’s Dietz syndrome is a disorder of connective tissue caused by a mutation in the genes that encode transforming growth factor (TGF) beta receptor 1 and 2.
Johston, Troy Alan, Likes, Maggie L.
core  

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones   +9 more
doaj   +1 more source

Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]

, 2016
PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A., Ganigara, M., Sharma, B., Vyas, Y.S., Rao, Nitin K., Reddy, A.K.   +5 more
core  

Gender, socio-economic status and metabolic syndrome in middle-aged and old adults. [PDF]

, 2008
BACKGROUND: Studies that addressed social and economic determinants of cardiovascular diseases, consistently showed an increase prevalence of the individual features of metabolic syndrome in the lower socio-economic strata.
Barros, Henrique, Henrique Barros, Santos, Ana C, Ana C Santos, Shah Ebrahim, Ebrahim, Shah   +5 more
core   +1 more source

Serotonin Syndrome

Annals of Indian Academy of Neurology, 2021
Sanjay Prakash, Chaturbhuj Rathore, Kaushik Rana   +2 more
openaire   +4 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

Nature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan, Micah G. Donovan, Paula Araya, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +6 more
doaj   +1 more source

Congenital Bilateral Aniridia with Ectopia Lentis: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Aniridia is characterised by variable degrees of hypoplastic iris or complete absence of iris tissue and is a rare congenital disorder. Mutation in the PAX6 gene is mostly responsible for aniridia.
Vijaya Mallareddy, Sachin Daigavane, Pranaykumar Shinde   +2 more
doaj   +1 more source