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.

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

The investigational tissue-based therapy is for the treatment of complete DiGeorge Syndrome (cDGS), which represents a tiny subset of patients with the rare condition, DiGeorge Syndrome ...

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.

A Dublin mum is hosting a fundraiser in memory of her baby daughter, who died of a heart condition just two weeks before her ...

Another American restaurant is stepping into the "Kitchen Nightmares" spotlight. Let's explore Leo's Italian Grill before Gordon Ramsay works his magic.

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 ...

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 ...

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 ...