Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

Reconstruction of lateral skull base defects after tumor ablation.

Neoplasms located in the lateral skull base region present a challenge for evaluation and management due to their difficult anatomic location and the complex reconstruction that is required following extensive tumor resection. Repair following tumor ablation requires a watertight dural seal, obliteration of the dead space, and coverage with vascularized soft tissue. Advances in radiologic imaging, diagnostic pathology, and surgical techniques and a multidisciplinary team for tumor ablation and reconstruction have significantly improved the treatment of these patients, minimized the occurrence of postoperative complications, and maximized patient outcome and quality of life. In this article, we present our experience in the reconstruction of extensive lateral skull base defects after tumor ablation.     

Colorectal Cancer Screening Pilot Program for Underserved Women in Cumberland County,Maine

Over 800 Maine residents will be diagnosed with colorectal cancer (CRC) this year, and nearly 300 will die from the disease. While CRC screening can reduce these rates, it is only among insured populations that screening rates exceed 50%. This project aimed to reduce barriers to, and increase rates of CRC screening among underinsured and uninsured women, ages 50 years and over, residing in Cumberland County, Maine. The existing network of the Maine Breast and Cervical Health Program (MBCHP) was used to reach the target population. A packet containing (1) an offer for no-cost fecal occult blood test (FOBT) screening and CRC-related educational materials, and (2) a stamped, addressed postcard specifying the woman’s interest in these resources, was mailed to 300 MBCHP enrollees residing in Cumberland County. Women requesting screening were contacted by phone to further determine eligibility. Ninety-three women (31%) requested FOBT kits and 29 of these women requested educational materials. Ten women were ineligible for screening because of previous colonoscopy. Fifty-two completed FOBT kits (63%) were returned; all were negative. An additional 42 (14%) women requested educational materials only. To reduce the burden of CRC in Maine and nationally, disparate populations must be reached with efficient and effective screening services. Established networks are proven means for reaching uninsured and underinsured individuals with education, screening services, and necessary follow-up care. This project serves as a model for the future development of similar programs statewide and nationally.     

A Disseminated Alveolar Rhabdomyosarcoma in a 9-Year-Old Boy Disclosed by Chromosomal Translocation (2;13) (q35;q14)

A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later.     

Ballon atrial septostomy under transesophageal echocardiographic guidance

Summary Balloon atrial septostomy is an established method of palliation for several forms of congenital heart disease. Previously performed under fluoroscopic x-ray control, recent reports have demonstrated the utility of transthoracic echocardiographic monitoring. We report the first application of uniplane transesophageal echocardiography (TEE) (6.7-mm probe) as an alternative imaging modality for control of ballon atrial septostomy on neonates in the intensive care unit.     

Midnight reckonings: on a question of knowledge and nursing

Abstract The paper contrasts understandings of knowledge grounded in Enlightenment norms with the departures from those norms taken by some strands of feminism and hermeneutics, as well as the contributions made by the writing of Michel Foucault. A reading of Foucault's writings on knowledge, power and the discursive constitution of self and world is offered as a potentially useful frame within which to raise questions about nursing, nurses and knowledge.     

Detecting cumulative trauma disorders in workers performing repetitive tasks

On-site testing of 157 poultry processors disclosed that 50% had three or more abnormal upper extremity findings out of a total of 22 possibles. The average worker had five to six abnormal findings. Impaired pinch strength, decreased vibration sensitivity in the fingertips, and reports of current numbness were the most prevalent. Of workers with signs, 25% reported no symptoms, whereas only 8% of workers reported symptoms but had no signs. The investigators concluded that this measurement method has utility for assessments of worker populations to determine prevalence of CTDs and, potentially, for preclinical detection of these disorders to permit early intervention, reduce medical costs, and minimize disability. The need for accurate measurement to enhance early detection and prevention is discussed.