Objective: We hypothesized that most patients with 22q11.2 deletion and a history of hypocalcemia have inadequate parathyroid function, manifested by intact parathyroid hormone levels below normal.

THEY are an army of unsung heroes whose love for family means they go above and beyond. In Ireland, there are more than 67,000 carers aged ten to 17. These are kids whose lives are in some way ...

A new initiative to help students balancing college life with looking after a loved one has been launched at University of ...

Young carers who are looking after family members have told politicians they need more help from the State in order to continue providing voluntary support.

Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually ...

22q11.2 deletion syndrome (22q11.2DS) presents with a wide range of clinical manifestations, posing a diagnostic challenge. When cardinal characteristics, such as conotruncal cardiac anomalies or ...

This is an important and very well-presented set of experiments following up on prior work from the lab investigating knock-down (KD) of EMC10 in restoration of neuronal and cognitive deficits in ...

Furthermore, enamel hypoplasia can serve as a diagnostic marker for syndromes such as DiGeorge syndrome and Kearns-Sayre syndrome. This case study will delve into managing enamel hypoplasia and its ...

[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...

There are also surgeries, including deep brain stimulation (DBS), that may help, DiGeorge syndrome is a rare genetic condition characterized by kidney and heart defects, learning disabilities, hearing ...

If a child has an abnormal number of copies of certain genes, that can lead to DORV. DORV is also linked to a number of genetic syndromes, such as DiGeorge syndrome. But in most cases, the cause of ...

“This initiative on raising the awareness of students with caring responsibilities is a vital component in UL's continuous ...