Articles related to Medical Genetics

About 75% to 80% of children with pediatric AML have clonal, acquired, somatic cytogenetic abnormalities (CAs) detected. Hematology Advisor briefs the information originally appearing in Genes, which reviews the current knowledge on evaluating pediatric patients based on cytogenetics and molecular subtypes to help match patients to risk-adapted therapies.

Can you differentiate between bradykinin-mediated angioedema and the more common histamine-mediated angioedema? How significant is a delayed diagnosis? Do you favor on-demand or preventative therapy? What is the recommended therapy? Access to specialist care and effective treatment in the past 10 years has improved the quality of life and reduced the mortality rate in patients with hereditary angioedema. This wide-ranging report from the British Journal of Hospital Medicine covers emerging treatments and outlines where we’ve been, where we are, and where we’re going in hereditary angioedema (HAE) care.

MDCalc.com offers this helpful tool, which calculates creatinine clearance (CrCl) according to the Cockcroft-Gault equation. The tool also allows height input, which analyzes BMI and provides a modified estimate and range.

Often undiagnosed due to its unspecific symptoms, hereditary angioedema (HAE) is a tricky condition that causes many patients unnecessary suffering with unnecessary surgeries and invasive diagnostic/therapeutic interventions. Read on to educate yourself on some of the alarming numbers on the orphan disease.   

After diagnosis during a partial mastectomy, this patient’s estimated blood loss was 58 mL, causing anemia and requiring a red blood cell transfusion along with ventriculoperitoneal drain placement. With a substantive bleeding history before the diagnosis, what would you do next with this patient? Work her up for von Willebrand disease? Do a complete blood count test to look at platelet count, a peripheral smear to look at the morphology of the platelets, and a coagulation profile? Offer genetic testing for fibrinogen disorders? What would your next steps be? Read the full case presentation and expert opinion to see how your peers responded.

In a study in the journal Nature Cancer, the researchers found that in laboratory cell lines and tumor models novobiocin selectively killed tumor cells with abnormal BRCA1 or BRCA2 genes, which help repair damaged DNA. The drug, developed in the 1950s and largely supplanted by newer drugs, was effective even in tumors resistant to agents known as PARP inhibitors, which have become a prime therapy for cancers with DNA-repair glitches.