Two patients with germline mutations in both BRCA1 and BRCA2 discovered unintentionally: a case series and discussion of BRCA testing modalities.

When a family is known to have a BRCA mutation, genetic testing for family members is typically limited to single site analysis of the known mutation. The exception to this is in Ashkenazi Jewish families, where testing for the three common Ashkenazi Jewish BRCA mutations is recommended. We report two cases, one without Ashkenazi Jewish ancestry and one with maternal Ashkenazi Jewish ancestry, who underwent Comprehensive BRACAnalysis testing despite known BRCA1 mutations in family members.

Surgical and financial implications of genetic counseling and requests for concurrent prophylactic mastectomy.

Risk assessment evaluation and breast cancer (BRCA) testing can occur in situations where a woman considers herself to be at increased risk for developing breast cancer or her physicians, either during routine evaluation or after diagnosis of unilateral breast cancer, consider her to be at risk for harboring a genetic predisposition to breast malignancy. This study examined the impact of risk assessment counseling on trends in breast surgery and cost of care. A retrospective chart review was performed from January 1, 1999 to December 31, 2008 for women older than 18 years who underwent breast surgery for malignancy or prophylaxis, had at least 1-year follow-up, and underwent genetic counseling.

Effects of dietary carbohydrate on the development of obesity in heterozygous Zucker rats.

Rats carrying one copy of the fa allele are predisposed to diet-induced metabolic disturbances which contribute to hyperinsulinemia, obesity and dyslipidemia. To investigate the role of dietary carbohydrate and fat in the development of these conditions, we fed 6-week old male heterozygous (fa/+) lean rats carbohydrate-free diets containing primarily saturated fat either ad libitum or pair-fed. These diets were compared to standard chow and to a high saturated fat mixed diet containing 10% energy from sucrose for 4 weeks.

Periodic limb movement in sleep in children with Williams syndrome.

Objective: Williams syndrome (WS) is associated with neurobehavioral abnormalities that include irritability and attention-deficit/hyperactivity disorder. Parents often report children having difficulties initiating and maintaining sleep because of restlessness and arousals. Therefore we evaluated a group of children with WS for the presence of a movement arousal sleep disorder.

Exercise and arthritis. Adaptive bicycling.

Bicycling, both indoor and outdoor, seems to be an excellent exercise for most patients with arthritis because it meets the criteria for the ideal recreational physical activity. This article outlines the physical and biomechanical advantages of bicycling as exercise and familiarizes the reader with the types of equipment available for both outdoor and indoor use. The proper mechanics of efficient bicycling and appropriate fit of machine to rider are addressed.

Cardiovascular complications of inactivity.

Inactivity has a number of consequences for the cardiovascular system. In particular, inactivity can lead to obesity, which can aggravate arthritis. An examination of the effect of exercise on the cardiovascular system requires the review of epidemiologic or population-based studies, because there are no large randomized trials with an exercise control group.

Pyriformis syndrome in a 10-year-old boy as a complication of operation with the patient in the sitting position.

We present a case of sciatic neuropathy due to the pyriformis syndrome after operation in the sitting position. Neither sciatic nerve injury nor the pyriformis syndrome has been reported after operation in the sitting position, although a low incidence of common peroneal nerve injury has been reported as a complication of operation on patients who are in the sitting position. The clinical findings of sciatic neuropathy, external rotation of the ipsilateral foot in the position of comfort, and a therapeutic response to local anesthetic injection into the pyriformis muscle are diagnostic of the syndrome.

Essential cryoglobulinemia associated with intense and persistent synovitis of the knee.

Two patients with essential cryoglobulinemia, an immune complex disease, developed an intense, chronic, monoarticular knee synovitis. In each patient, synovial fluid findings (high white count and left shift) suggested a pyrogenic or crystalline etiology. A synovectomy was eventually performed in both patients to control their synovitis, which was refractory to medical management.

Coexistent Mycobacterium intracellulare gonarthritis and patellar osteomyelitis in a patient with pulmonary sarcoidosis. A case report and literature review.

We present a 48-year-old man with known pulmonary sarcoidosis who developed septic arthritis of the left knee with concomitant patellar osteomyelitis due to Mycobacterium intracellulare. The patient underwent synovectomy and was started on appropriate combination chemotherapy, but clinical improvement did not occur until patellectomy was performed. Both bone and radiogallium scans were important in the medical and surgical management of this patient.

Scintigraphic study of Osgood-Schlatter disease following delayed clinical presentation.

A case report of a 21-year-old man with Osgood-Schlatter disease is presented. Although the diagnosis was provided by the radiograph of the affected tibial tuberosity, the scan appears to have some diagnostic utility and may better correlate with clinical activity.

Right-sided endocarditis and ventricular septal defect.

Right-sided endocarditis occurred in a 40-year-old woman with ventricular septal defect. This association is uncommon in adults. Because of the changing and variable clinical patterns of this disease, it is difficult to make a prompt diagnosis.

Periarticular uptake of 99mtechnetium diphosphonate in psoriatics: correlation with cutaneous activity.

The periarticular uptake of 99mtechnetium-labeled diphosphonate (99mTcDp) was compared in 12 patients hospitalized for psoriasis and in 12 hospitalized for other dermatoses not associated with arthropathy. The 12 patients with psoriasis had recent onset disease of less than 5 years duration; neither group had historical or clinical evidence of arthritis. All psoriatics had markedly abnormal scans with symmetrically increased periarticular uptake about the imaged joints.

Cardiac effect of diuretic drugs.

Triamterene, amiloride, ethacrynic acid, and furosemide were studied to determine whether they modified the digitalis-induced egress of myocardial potassium which is thought to facilitate the development of digitalis arrhythmias. In a control group of 15 dogs, potassium was measured in samples obtained simultaneously from the femoral artery (FA) and the coronary sinus (CS) in a control period and at intervals after the administration of 1 mg. of acetylstrophanthidin.