Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient’s genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study

Perceived wellbeing of patients one year post stroke in general practice - recommendations for quality aftercare

<p>Abstract</p> <p>Background</p> <p>Annually, 41,000 people in the Netherlands have strokes. This has multiple physical and psychosocial consequences. Most patients return home after discharge from hospital. Quality aftercare by general practitioners is important to support patients at home. The purpose of this study is to examine the wellbeing of patients who returned home immediately after discharge from hospital, one year post stroke, in comparison with the general Dutch population of the same age and to determine factors that could influence wellbeing.</p> <p>Methods</p> <p>All the stroke patients from the Department of Neurology, Martini Hospital Groningen in the period November 2006 to October 2007 were included. People aged under 65 years or with haemorrhaging were excluded. All the patients (N = 57) were interviewed at home using the following questionnaires: Barthel Index, SF-36, HADS, CSI and a questionnaire about their way of life.</p> <p>Results</p> <p>31% of the patients in this study experienced a decrease in functional status after one year. Nevertheless, there was no significant difference between the median Barthel Index value at discharge from hospital and one year post stroke. ADL independence correlated with a better quality of life. The health-related quality of life was high. Stroke patients have almost the same quality of life as the 'average' Dutch elderly population. Where patients can no longer fully participate in society, their perceived quality of life is also lower. In this study there is an indication of a high prevalence of depression and anxiety disorders in stroke patients. This negatively affects the quality of life a year after stroke. Although caregiver strain was low for the partners of stroke patients, a reduced quality of life is correlated to greater burden.</p> <p>Conclusions</p> <p>This study provides valuable insight into the wellbeing of patients living at home one year post stroke. Physical functioning and quality of life are comparable to the general population of the same age, but improvements in mental functioning can be envisaged. In addition, more attention should be paid to maintaining the patients' activities. The wellbeing of these stroke patients could be increased further if greater attention is paid to these aspects of life. This seems to be applicable to general practice.</p

Increasing Protein at the Expense of Carbohydrate in the Diet Down-Regulates Glucose Utilization as Glucose Sparing Effect in Rats

High protein (HP) diet could serve as a good strategy against obesity, provoking the changes in energy metabolic pathways. However, those modifications differ during a dietary adaptation. To better understand the mechanisms involved in effect of high protein diet (HP) on limiting adiposity in rats we studied in parallel the gene expression of enzymes involved in protein and energy metabolism and the profiles of nutrients oxidation. Eighty male Wistar rats were fed a normal protein diet (NP, 14% of protein) for one week, then either maintained on NP diet or assigned to a HP diet (50% of protein) for 1, 3, 6 and 14 days. mRNA levels of genes involved in carbohydrate and lipid metabolism were measured in liver, adipose tissues, kidney and muscles by real time PCR. Energy expenditure (EE) and substrate oxidation were measured by indirect calorimetry. Liver glycogen and plasma glucose and hormones were assayed. In liver, HP feeding 1) decreased mRNA encoding glycolysis enzymes (GK, L-PK) and lipogenesis enzymes(ACC, FAS), 2) increased mRNA encoding gluconeogenesis enzymes (PEPCK), 3) first lowered, then restored mRNA encoding glycogen synthesis enzyme (GS), 4) did not change mRNA encoding β-oxidation enzymes (CPT1, ACOX1, βHAD). Few changes were seen in other organs. In parallel, indirect calorimetry confirmed that following HP feeding, glucose oxidation was reduced and fat oxidation was stable, except during the 1st day of adaptation where lipid oxidation was increased. Finally, this study showed that plasma insulin was lowered and hepatic glucose uptake was decreased. Taken together, these results demonstrate that following HP feeding, CHO utilization was increased above the increase in carbohydrate intake while lipogenesis was decreased thus giving a potential explanation for the fat lowering effect of HP diets

Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol

Contains fulltext : 96704.pdf (publisher's version ) (Open Access)BACKGROUND: Cerebral small vessel disease (SVD) is a frequent finding on CT and MRI scans of elderly people and is related to vascular risk factors and cognitive and motor impairment, ultimately leading to dementia or parkinsonism in some. In general, the relations are weak, and not all subjects with SVD become demented or get parkinsonism. This might be explained by the diversity of underlying pathology of both white matter lesions (WML) and the normal appearing white matter (NAWM). Both cannot be properly appreciated with conventional MRI. Diffusion tensor imaging (DTI) provides alternative information on microstructural white matter integrity. The association between SVD, its microstructural integrity, and incident dementia and parkinsonism has never been investigated. METHODS/DESIGN: The RUN DMC study is a prospective cohort study on the risk factors and cognitive and motor consequences of brain changes among 503 non-demented elderly, aged between 50-85 years, with cerebral SVD. First follow up is being prepared for July 2011. Participants alive will be included and invited to the research centre to undergo a structured questionnaire on demographics and vascular risk factors, and a cognitive, and motor, assessment, followed by a MRI protocol including conventional MRI, DTI and resting state fMRI. DISCUSSION: The follow up of the RUN DMC study has the potential to further unravel the causes and possibly better predict the consequences of changes in white matter integrity in elderly with SVD by using relatively new imaging techniques. When proven, these changes might function as a surrogate endpoint for cognitive and motor function in future therapeutic trials. Our data could furthermore provide a better understanding of the pathophysiology of cognitive and motor disturbances in elderly with SVD. The execution and completion of the follow up of our study might ultimately unravel the role of SVD on the microstructural integrity of the white matter in the transition from "normal" aging to cognitive and motor decline and impairment and eventually to incident dementia and parkinsonism

Cognitive recovery after stroke:A 2-year follow-up

OBJECTIVES: To determine (1) whether long-term improvement of cognitive function takes place after stroke and (2) which clinical factors influence cognitive recovery. DESIGN: Cohort study with patients who were assessed at 2.3 and 27.7 months after stroke. SETTING: Home-based stroke patients. PARTICIPANTS: From a group of 229 stroke patients, 92 were approached to participate. Sixty-five (43 men, 22 women; mean age, 56.4y) agreed, and they were neuropsychologically assessed at 72.2 days after stroke. A group of 33 controls (12 men, 21 women; mean age, 52.4y) was used as a reference sample. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Orientation, memory, attention, visuospatial, visuoconstructive, language, and arithmetic abilities were assessed with an extensive neuropsychologic test battery. RESULTS: Significant improvements across time were noted for all cognitive domains. The biggest improvement was found in the attentional domain; the least, in the memory domain. In addition, a small subset of patients accounted for the significant improvement in all cognitive domains; most patients showed no improvement or declined. Factors influencing recovery were side of the stroke and incidence of lowered consciousness on admission. Patients with right-side brain damage performed better than those with left-side brain damage and showed more improvement over time. Patients with lowered consciousness on admission performed worse than patients without lowered consciousness. No significant effect was found for gender, type of stroke, cortical versus subcortical lesions, having 1 stroke or multiple strokes, or the interval between the stroke and the neuropsychologic assessment. CONCLUSION: There was room for improvement in all cognitive domains, although this improvement was gained by only a small number of patients. Hence, most patients must cope with serious permanent cognitive decline after stroke. Record 7 of 18 - SilverPlatter MEDLINE(R)