Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.

We conducted a case-control study of the alpha-synuclein-interacting protein gene (SNCAIP, also known as synphilin-1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5' terminal of exons 1, 4, and 6. None of the variants were found associated with PD overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the alpha-synuclein gene (SNCA) or the parkin (PARK2) gene.     

Picture of the Month

A 2?year-old boy had the onset of pain and swelling of his penis during the past 3 days. The swelling and pain increased significantly within the past 24 hours. The child's penis is shown in the Figure. DENOUEMENT AND DISCUSSION PARAPHIMOSIS Paraphimosis is an urologic emergency that results when the foreskin is retracted away from the glans penis and cannot be reduced to its former position. The opening in the prepuce, when forcibly retracted beyond the coronal sulcus, becomes a constricting ring that cannot be reduced. The constricting ring created causes a tension greater than the lymphatic pressure and results in edema of the prepuce, the penile shaft, and the glans penis distal to the incarcerated foreskin.1,2As lymphatic drainage is impaired and tissue swelling increases, reduction of the foreskin becomes more difficult. Pain occurs as a result of swelling, and, eventually, as a result of vascular compromise. If.     

Fußkorrekturen beim Apert-Syndrom

Zusammenfassung Operationsziel Schmerzfrei belastungsf?hige Fü?e. Indikationen Gehen und Stehen schmerzhaft. Unbefriedigende Einlagen- und Schuhversorgung. Unbefriedigende ?sthetik. Kontraindikationen Schlechte Hautverh?ltnisse. Operationstechnik Dorsaler Zugang beiderseits. Resektion von intermetatarsalen Knochenbrücken. Korrekturosteotomien fehlstehender Mittelfu?knochen. Beseitigung des Hallux varus durch Reposition der Gro?zehe im Grundgelenk und tempor?re Kirschner-Drahtfixation des Gro?zehenstrahls und der Mittelfu?fragmente. Ergebnisse Zw?lf Jahre nach den Eingriffen an beiden Fü?en lag ein ?sthetisch und funktionell sehr gutes Resultat vor. Die Patientin trug normale Kaufschuhe und belastete beide Fü?e tadellos. Die Fü?e konnten allerdings wegen ausgedehnter angeborener Synostosen der Fu?wurzel- und Tarsometatarsalgelenke nicht befriedigend abgerollt werden.     

Non-hierarchical logistic models and case-only designs for assessing susceptibility in population-based case-control studies

This article describes how genetic components of disease susceptibility can be evaluated in case-control studies, where cases and controls are sampled independently from the population at large. Subjects are assumed unrelated, in contrast to studies of familial aggregation and linkage. The logistic model can be used to test collapsibility over phenotypes or genotypes, and to estimate interactions between environmental and genetic factors. Such interactions provide an example of a context where non-hierarchical models make sense biologically. Also, if the exposure and genetic categories occur independently and the disease is rare, then analyses based only on cases are valid, and offer better precision for estimating gene-environment interactions than those based on the full data.     

Influence of Video Confrontation on the Self-Evaluation of Anorexia Nervosa Patients: A Controlled Study

The confrontation with one's body appearance as recorded on a video might have an impact on the body experience of anorexia nervosa patients. Such a video confrontation was applied to a group of 12 anorectic females. After the procedure, these patients rated their actual body (using Osgood's Semantic Differential) as thinner and more active; the control group of 12 female anorectics did not change their evaluations. The patients' evaluation of their ideal body image was not influenced.     

Implantierbare Sehprothesen

Ohne Zusammenfassung     

Isotopic evaluation of the metabolism of pyruvate and related substrates in normal adult volunteers and severely burned children: effect of dichloroacetate and glucose infusion

In this study we have assessed the hypothesis that there is a postreceptor defect in glucose metabolism that makes the severely burned patient unable to oxidize glucose efficiently as an energy source. The intracellular pyruvate pool was labeled by the infusion of 3-13C-lactate, and expired CO2 production and isotopic enrichment of both pyruvate and CO2 were determined to calculate the rate of pyruvate production and oxidation. 6,6-d2-Glucose and 15N-alanine were infused simultaneously to relate pyruvate kinetics and oxidation to glucose and alanine kinetics. Five normal volunteers and 10 severely burned patients (mean of 80% +/- 5% body surface burned) were studied in the basal state and during continuous (unlabeled) glucose infusion. Also, the effect of dichloroacetate, which normally stimulates pyruvate dehydrogenase activity, was assessed in both volunteers and patients. The burned patients had many of the classic metabolic responses to severe injury, including significant increases in resting energy expenditure, glucose production, and alanine release from protein breakdown. However, rather than being inhibited, the rate of pyruvate oxidation was increased approximately 300% in burned patients. Although the patients had an elevated mean concentration of lactate, stemming from increased lactate production, no deficit in pyruvate dehydrogenase activity was evident. Rather, the high rate of lactate production was apparently a consequence of the high rate of glycolysis. On the other hand, the direct pathway for synthesis of glycogen from infused glucose appeared to be impaired in burned patients. In both volunteers and patients, dichloroacetate stimulated the percent of pyruvate directed to oxidation, thereby reducing the conversion of pyruvate to other fates, including lactate. However, because there was no deficit in pyruvate dehydrogenase activity in the patients compared with normal volunteers before dichloroacetate treatment, no unique effect of dichloroacetate on glucose or protein kinetics was observed in burned patients. From these results we conclude that if there is a postreceptor defect in glucose metabolism in burned patients, it involves the pathway of direct glycogen synthesis and not the pathway of oxidation.