The diagnosis and management of thrombocytopenia in 22q11.2 deletion syndrome (22q11.2DS)—which may initially mimic fetal and neonatal immune thrombocytopenia (FNAIT), especially in cases in which the ...

amc.uva.nl Background Three quarters of patients with 22q11.2 Deletion Syndrome (22q11.2DS) have congenital heart disease (CHD), typically conotruncal heart defects. Although it is currently common ...

The molecular basis of the renal malformation is unknown; deletion of one or more genes could be responsible. The 22q11.2 microdeletion syndrome is a frequent cause of kidney malformation and ...

Tovar Pensa, Co-First Author, University of Texas Health Science Center at Houston DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing.

NHS staff are working harder than ever to get services back on track, to get waiting lists down and consistently deliver the best care. We know change is needed. But we also know that many of the ...

DiGeorge综合征（又称22q11.2缺失综合征）是一种由染色体异常引起的遗传性疾病。它涉及到22号染色体的微缺失，导致患者在多个系统中出现不同的 ...

We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome (OTCS). The deletion ...

According to the NHS website: "DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person's DNA. In about 9 in 10 ...

Experts have alerted patients with restless leg syndrome over a bizarre side-effect of drugs that treat the condition. The medicines – known as dopamine agonists – are offered on the NHS ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

Service specifications are important in clearly defining the standards of care expected from organisations funded by NHS England to provide specialised care. The specifications have been developed by ...

UK Health Secretary Sajid Javid has said he wants to accelerate the rollout of electronic patient records (EPR) in the NHS, with 90% of NHS trusts using them by the end of 2023.