Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.

Background: Oncotype DX (ODX) is a genomic assay of tumor tissue that is utilized to predict the likelihood of recurrence and benefit of chemotherapy in breast cancer patients. Five to 10% of breast cancers are hereditary, and hereditary syndromes may not be uncovered through family history alone. We hypothesized that high ODX recurrence score (RS) may signal a potential hereditary cancer risk.

Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.

Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathic complications. Renal dysfunction and ultimately end-stage renal disease occurs in classically affected males and in about 10-15% of female heterozygotes from classically affected families as a result of progressive glycosphingolipid accumulation.

Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa.

We report on the successful desensitization of an adult female with Pompe disease who had previously experienced anaphylaxis to intravenous alglucosidase alfa therapy. The starting alglucosidase alfa dose for desensitization was 10mg/kg with gradual dose escalation and desensitization via serial dilution was completed over five infusions. This methodology serves as a means to desensitize patients with prior anaphylactic response to alglucosidase alfa so that enzyme replacement therapy can be utilized.

An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.

Ehlers-Danlos syndrome (EDS) vascular type typically presents with significant vascular complications such as rupture of blood vessels, gravid uterus, or intestinal perforation. We report on a 24-year-old female that presents with deep vein thrombosis found to be due to compression by a large posterior tibial artery pseudoaneurysm which ultimately leads to the patient's diagnosis. This case highlights the need for a multidisciplinary approach involving vascular surgery, internal medicine, genetics, and other health care providers for patients with vascular type EDS.

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling.

Little is known about the impact of genetic counseling on parental uncertainty or perceived control regarding the prognosis of a child with a chromosomal disorder. By exploring the parents' concerns and needs surrounding the child's diagnosis, a genetic provider can help to facilitate effective coping. This study tested the association of measures of parental uncertainty and perceived control with the perceived helpfulness of the genetic counselor.