The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader–Willi syndrome

Background Prader–Willi syndrome (PWS) is a genetic syndrome associated with several physical, cognitive and behavioural characteristics. For many individuals with this syndrome, compulsive behaviour is often noted in both food and non‐food situations. The focus of this paper is on the non‐food‐related compulsions in individuals with PWS and comparing differences across the three genetic subtypes of the syndrome. Methods Compulsive behaviours in 73 people with PWS were assessed using the Yale‐Brown Obsessive Compulsive Scale and the Compulsive Behavior Checklist. Compulsive behaviour and its relation to IQ and academic achievement also were evaluated. Phenotypic differences were characterized for the three most common genetic subtypes of the disorder: 16 individuals with the long Type I (TI) 15q deletion, 26 individuals with the short Type II (TII) 15q deletion and 31 individuals with maternal disomy 15. Results There appeared to be important differences between the two deletion subtypes. Specifically, individuals with the TI deletion had more compulsions regarding personal cleanliness (i.e. excessive bathing/grooming), and their compulsions were more difficult to interrupt and interfered with social activities more than the other subtypes. Individuals with the TII deletion were more likely to have compulsions related to specific academic areas (i.e. rereading, erasing answers and counting objects or numbers). Conclusions These findings may help clinicians and researchers identify possible intervention strategies and supports based on the behavioural phenotype associated with genetic subtype in individuals with PWS.     

Postoperative radiotherapy for locally advanced colon cancer

Background: The role of adjuvant postoperative radiotherapy for locally advanced colon cancer is not well documented. Methods: Seventy-eight patients who underwent a complete resection of B2-C colon cancer received postoperative radiotherapy. Twenty-eight patients received ⩽45 Gy; 50 patients received 50–55 Gy. Twenty-seven patients received adjuvant fluorouracil-based chemotherapy. All patients were followed for a minimum of 3 years; no patients were lost to follow-up. Results: The overall local control rate was 88%. The 5-year actuarial rate of local control was 96% after 50–55 Gy postoperative radiotherapy compared with 76% after <50 Gy (p=0.0095). Multivariate analysis of local control showed that only radiotherapy dose significantly influenced this end point. Cause-specific survival rates at 5 years were B2, 67%; B3, 90%; C1, 100%; C2, 61%; C3, 36%; and overall, 63%. Multivariate analysis of cause-specific survival showed that only stage significantly influenced this end point. Bowel obstruction caused by adhesions developed in three patients and required a laparotomy; radiation-induced sarcoma developed in one additional patient. Conclusions: Postoperative radiotherapy appears to reduce the risk of local recurrence in patients with locally advanced colon cancer. The optimal dose is probably 50–55 Gy at 1.8 Gy per fraction. Postoperative radiotherapy may improve cause-specific survival for patients with stages B3 and C2 cancers.     

Maternal satisfaction following post-shelter family reunification

The purpose of this study was to examine the correlates of post-shelter maternal family satisfaction in a group of youth who were reunified with their families following a shelter stay. Findings indicated that higher ratings of family satisfaction were related to greater maternal problem solving skill and less family conflict.     

Newer electrodiagnostic techniques in peripheral nerve injuries

Careful attention to technique is essential for the accurate evaluation of peripheral nerve function using conventional EMG and nerve conduction studies. Numerous technical, anatomic, and physiologic pitfalls must be avoided. The amplitudes of the M wave and SNAP contain useful diagnostic information and should be evaluated carefully in addition to conduction velocity and distal latency. Newer techniques using the F wave, H reflex, SEP, dermatomal SEP, and quantitative EMG may be helpful in evaluation of selected peripheral nerve problems. Comparative nerve conduction studies using "inching" technique permit evaluation of short nerve segments. Comparisons with parallel nerves improve diagnostic sensitivity.     

Clinical use of a standard kit-preparation of radiolabeled monoclonal antibody 96.5 in the diagnostic imaging of metastatic melanoma

We studied the efficiency of a standard-kit preparation using 1 mg 111In-labeled 96.5 monoclonal antibody in combination with 19 mg of unlabeled antibody in the diagnostic imaging of 27 patients with documented metastatic melanoma. Twenty-three of 26 patients (88%) demonstrated immunoscintigraphic localization of tumor. Of 104 metastatic sites previously documented by conventional studies, 62 (60%) were identified by immunoscintigraphy. A total of 77 sites demonstrated localization of radiolabeled antibody. Fifty-four (70%) corresponded to known sites of disease; eight sites (10%) were "discovered" by immunoscintigraphy and subsequently confirmed by conventional studies; 15 imaged sites (20%) could not be confirmed by conventional studies. Size and location of metastasis appear to be important features that influence imaging efficiency. Tumor size (greater than or equal to 2 cm v less than 2 cm) appears to be the statistical dominant determinant. The feasibility and potential clinical use of radioimmune imaging of tumors is discussed.     

Evaluation of a burn prevention program in a public school system.

The "Learn Not to Burn" prevention program is a burn prevention curriculum sponsored by the North Carolina Jaycee Burn Center, the State Department of Public Instruction, and the North Carolina Department of Insurance Fire and Rescue Division. The goal of the program is to reduce burn-related deaths and injuries in North Carolina through burn prevention education by making the "Learn Not to Burn" curriculum available to primary school children across the state at no cost to the schools. The curriculum instrument is a reusable notebook that provides a means for teachers to integrate burn prevention into regular class subject areas. At the time of initiation of this study approximately 70% of the school systems in North Carolina had been provided with the "Learn Not to Burn" curriculum.     

Pharmacy-coordinated process for evaluating physician drug prescribing

A pharmacy-coordinated process is described in which the frequency and types of inappropriate drug prescribing are evaluated as part of the medical staff quality assurance and physician credentialing program. A pharmacist intervention program was implemented at an 838-bed private hospital to review all medication orders for appropriateness and to intervene with physicians and nurses when problems in drug prescribing or administration were identified. During a five-year period there were more than 6500 drug therapy interventions. Because of the recurrent problems identified, the medical staff asked the pharmacy department to develop a process for objectively evaluating the quality of prescribing practices that could be used in the medical staff quality assurance program and in physician credentialing. The drug-prescribing activities of physicians applying for clinical privileges are subjected to a "macro" review by using a computerized clinical financial information system to extract drug-use information from patients' bills. In a "micro" review, patient records are retrospectively analyzed by Pharm.D. clinical specialists; all medications prescribed by the physician for those patients being evaluated are scrutinized. Appropriate response scores are calculated by dividing the number of appropriate responses by the total responses. The pharmacy department in this hospital has assumed a more active role in patient care through its participation in a process for objectively evaluating the quality of prescribing practices.     

Subsynaptosomal distribution of calcium during aging and 3,4-diaminopyridine treatment

Since previous studies showed that calcium uptake by synaptosomes from rodents declines with aging [30], the subsynaptosomal distribution of calcium was determined with the disruption method of Scott et al. [37]. Calcium uptake by the mitochondrial (digitonin-resistant) and non-mitochondrial (digitonin-labile) compartments, as well as total uptake, were determined at 2, 5 and 10 min. After a 10 min incubation under resting conditions (5 mM-KCl), total calcium uptake decreased at 10 months (−14.6%) and 30 months (−33.0%) of age; mitochondrial calcium uptake increased by 10 months (+11.2%) but declined by 30 months (−17.5%); the nonmitochondrial calcium compartment declined at 10 (−34.7%) and 30 (−43.4%) months when compared to the 3 month old control. With potassium depolarization (31 mM-KCl), total calcium uptake declined from 100% (3 months) to 73.8% (10 months) or 53.0% (30 months); mitochondrial calcium uptake declined from 100% (3 months) to 85.6% (10 months) or 68.4% (30 months); non-mitochondrial calcium uptake decreased at 10 (−34.3%) and 30 (−57.7%) months of age when compared to 3 months (100%). The deficits in calcium homeostasis are not due to changes in synaptosomal volumes or to diminished membrane potentials, as assessed by tetraphenylphosphonium ion accumulation. 3,4-Diaminopyridine partially reversed the alterations in total, mitochondrial and non-mitochondrial calcium uptake by synaptosomes from aged mice.