Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

An ecologically based examination of barriers to physical activity in students from grade seven through first-year university

PurposeThe first purpose was to identify barriers to physical activity that students in grade seven through first-year university experienced. A second purpose was to classify barriers using an ecological framework and to examine the pattern of barrier categories (i.e., intrapersonal, interpersonal, institutional, community, public policy, and physical environmental) and specific barrier types as grade increased. The use of an ecological model addressed limitations in prior research revolving around the identification of salient barriers in a manner that makes the design of effective interventions difficult.MethodsParticipants in grades 7–8 (n = 35), 9–10 (n = 67), 11–12 (n = 80), and the freshmen year of university (n = 109) listed barriers to physical activity on an open-ended measure.ResultsFindings revealed a trend for the average number of barriers reported per student to increase as grade in school increased. First-year university students reported significantly more barriers than all other grade groupings. The frequency of barriers reported within the ecological categories was dependent on the specific grade groupings. Further, within each ecological category, distinct barriers were reported across the different grade groupings.ConclusionsFindings highlight the utility of using an ecological model to categorize barriers, rather than simply classifying barriers as internal or external to an individual, as done in prior research. Understanding the pattern of ecologically based barrier categories and specific types of barriers will help to inform the content of future research and interventions designed to alleviate salient barriers to physical activity.     

Micronutrients in gastrointestinal cancer.

The monitoring of micronutrients and the relationship between dietary intake and micronutrient status prior to and after surgery in patients with histologically proven gastrointestinal adenocarcinoma, both weight-stable and weight-losing (> 7.5% of their pre-illness weight) has been studied and the results compared to controls. Plasma vitamin C and red blood cell thiamine levels were significantly lower in weight-losing cancer patients when compared to their weight-stable counterparts (P < 0.05 and P < 0.02 respectively). Weight-losing patients had a lower vitamin C (P < 0.05) and thiamine (P < 0.002) intake, and a higher elevation in plasma C-reactive protein and a lower prealbumin level (P < 0.02), when compared to both weight-stable cancer patients and controls. Plasma vitamin C, prealbumin and C-reactive protein levels remained unchanged after curative resections of the tumours compared to a preoperative value, and there was a highly significant correlation between plasma vitamin C and dietary intake of vitamin C. This study suggests that the lower vitamin C and thiamine status in weight-losing gastrointestinal cancer patients prior to surgery is due to a lower micronutrient intake and an acute phase response to their illness. Dietary intake of vitamin C appears to be the major factor in determining plasma vitamin C concentration following curative surgical resection.     

An audit of cardiac arrest management by extended trained ambulance crew.

OBJECTIVE--To audit the use of extended skills by South Glamorgan Ambulance crew in attempted resuscitations from out-of-hospital cardio-respiratory arrest, in terms of successful discharge of patients from hospital and the accuracy with which agreed protocols were applied. Design-Retrospective analysis of ambulance report forms, electrocardiograph rhythm strips, casualty cards and discharge summaries during 26 months (1st May 1987-30th June 1989). SETTING--A mixed urban and semi-rural area of 187 square miles with a population of 396,000. RESULTS--There were 274 attempted resuscitations. Seven patients (2.5%) were managed for primary respiratory arrest and 3 were discharged. In 98 patients (35.8%) the initial resuscitation protocol was for ventricular fibrillation: 26 were admitted and 17 were discharged. In 169 patients (61.7%) the initial resuscitation protocol was for asystole or electromechanical dissociation: 11 were admitted and 1 discharged. The majority of patients who were successfully discharged from hospital were those in ventricular fibrillation who responded to defibrillation alone (13 survivors). Drug administration may have played a role in the successful resuscitation of the remainder. Endotracheal intubation was successful in 94.7% and vein cannulation in 87.7% of attempts. There were deviations from the ventricular fibrillation protocol in 27 cases (27.5%) and from the asystole protocol in 27 cases (16.0%). CONCLUSION--Survival rates for ventricular fibrillation managed by these personnel were satisfactory with early defibrillation. Defibrillation alone was responsible for the majority of successful resuscitations. The additional benefit of drug administration appears small, though potentially important. The majority of patients were in asystole by the time the ambulance arrived. IMPLICATIONS--Extended trained crews use their skills effectively. The most important skill is defibrillation. Further studies are required to explain the high proportion of patients found in asystole. The performance of individual ambulance personnel should be assessed prospectively, because agreed resuscitation protocols are not always followed.     

A review of Disrupted-In-Schizophrenia-1 (DISC1): neurodevelopment, cognition, and mental conditions.

Disrupted-In-Schizophrenia-1 (DISC1) is a promising candidate gene for schizophrenia (SZ) and bipolar disorder (BP), but its basic biology remains to be elucidated. Accumulating genetic evidence supports that DISC1 is associated with some aspects of cognitive functions relevant to SZ and BP. Here, we provide a summary of the current updates in biological studies of DISC1. Disrupted-In-Schizophrenia-1, preferentially expressed in the forebrain, has multiple isoforms with potential posttranslational modifications. Disrupted-In-Schizophrenia-1 protein occurs in multiple subcellular compartments, which include the centrosome, microtubule fractions, postsynaptic densities, actin cytoskeletal fractions, the mitochondria, and the nucleus. Recent studies have clarified that DISC1 mediates at least centrosome-dynein cascade and cyclic adenosine monophosphate (cAMP) signaling. Furthermore, both cytogenetic and cell biological studies consistently suggest that an overall loss of DISC1 function (either haploinsufficiency or dominant-negative, or both) may be associated with SZ and BP. On the basis of these findings, production of DISC1 genetically engineered mice is proposed as a promising animal model for SZ and BP. Several groups are currently generating DISC1 mice and starting to characterize them. In this review, the advantages and disadvantages of each animal model are discussed.     

Early Intervention for Trauma: Current Status and Future Directions

Although psychological debriefing (PD) represents the most common form of early intervention for recently traumatized people, there is little evidence supporting its continued use with individuals who experience severe trauma. This review identifies the core issues in early intervention that need to be addressed in resolving the debate over PD. It critiques the available evidence for PD and the early provision of cognitive-behavioral therapy (CBT). Based on available evidence, we propose that psychological first aid is an appropriate initial intervention, but that it does not serve a therapeutic or preventive function. When feasible, initial screening is required so that preventive interventions can be used for those individuals who may have difficulty recovering on their own. Evidence-based CBT approaches are indicated for people who are at risk of developing posttraumatic psychopathology. Guidelines for managing acutely traumatized people are suggested and standards are proposed to direct future research that may advance our understanding of the role of early intervention in facilitating adaptation to trauma.     

The lateral chest X-ray: Is it necessary for emergency department patients?

To determine the utility of the lateral view of the chest in emergency department patients, records of all patients who had had 2-view chest x-rays ordered in the emergency department were reviewed retrospectively. A study radiologist recorded a reading of the posteroanterior (PA) radiograph alone. The lateral radiograph was then provided, along with the PA view, and a second reading was recorded. A comparison was then made between the first and second readings.A total of 417 sets of x-rays were included. The PA view alone successfully diagnosed or suspected 92% of pulmonary nodules, 95% of effusions, 97% of cases of emphysema, 98% of pneumonias, and 100% of cases of cardiomegaly, pulmonary edema, interstitial pulmonary disease, and atelectasis.In the emergency department patient population, lateral views of the chest have minimal diagnostic yield and therefore may be used selectively to safely decrease the amount of breast radiation exposure to young women.