Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.

The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French-Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two-point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well-documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of alpha-synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The alpha-synuclein(4q21.3-23), Parkin(6q25.2-27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase-L1 (4p14-16.3) and PARK6 and PARK7 (1p35-36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome-wide screen has been undertaken in an effort to identify a novel PD gene.     

Meningococcal carriage during a clonal meningococcal B outbreak in France

The aim of this study performed in Normandy, France, was to analyze the pharyngeal meningococcal carriage at the peak of a clonal meningococcal B outbreak, which was subsequently controlled using an outer membrane vesicle vaccination. This cross-sectional study included randomly selected subjects aged 1–25 years. Carriers and non carriers were compared using unconditional logistic regression. Among the 3,522 volunteers, there were 196 (standardized rate: 6.46 %) Neisseria meningitidis carriers, of which there were only five with the outbreak strain (B:14:P1.7,16/ST-32; standardized rate: 0.18 %). From the multivariate analysis, older age, smoking, higher degree of socialization, and social deprivation appear to favor the carriage of all the strains included. Prior antibiotic treatment up to 12 months before swabbing, even with β-lactam, was protective against carriage. Our data indicate a low overall meningococcal carriage rate with a surprising protective effect of prior antibiotic exposure. The observed low carriage rate of the epidemic strain (B:14:P1.7,16/ST-32) contrasts with the high incidence of invasive meningococcal diseases (IMD) due to this strain. Hence, our data underline the high virulence of the strain and suggest a low level of natural immunity of the population against this strain. Although highly resource-consuming, carriage studies are helpful in guiding the implementation of control measures of IMD, such as mass vaccination or chemoprophylaxis.     

Serum thyroid hormone levels in healthy children from birth to adulthood and in short children born small for gestational age

Context: Age-appropriate reference ranges for thyroid hormones are required for detecting pediatric thyroid dysfunction. Data on thyroid hormones and peripheral thyroid metabolism in short children born small for gestational age (SGA) before and during GH treatment are lacking. Objectives: Our objectives were to obtain pediatric thyroid hormone reference ranges; to investigate thyroid hormones in short SGA children before puberty, during puberty, and during postponement of puberty by GnRH analog; and to evaluate thyroid hormones during GH treatment. Patients and Design: In 512 healthy children (225 females; 0-18 yr), free T(4) (FT(4)), TSH, total T(4), T(3), rT(3), and T(4)-binding globulin were determined. Reference ranges were calculated using the linearity, median, and skewness method. In 125 short SGA children (62 females; mean age 11.3 yr), thyroid hormones were analyzed before and after 2 yr of GH treatment and additional GnRH analog. Results: Thyroid references showed wide ranges postnatally and age-specific patterns thereafter, similar in boys and girls. Untreated short SGA children had similar FT(4) and T(4) levels as the reference population but significantly higher T(3), rT(3), and T(4)-binding globulin levels. During puberty and during GH treatment, FT(4) and rT(3) significantly decreased, whereas T(3) significantly increased. Conclusion: Age-specific thyroid reference ranges are presented. Puberty and GH treatment both induce changes in peripheral thyroid metabolism, resulting in more biologically active T(3) at the expense of less inactive rT(3), possibly mediated by IGF-I. GH treatment induces altered peripheral thyroid metabolism but does not result in thyroid dysfunction.     

The Effects of Pre- and Post-Exercise Whey vs. Casein Protein Consumption on Body Composition and Performance Measures in Collegiate Female Athletes

Two of the most popular forms of protein on the market are whey and casein. Both proteins are derived from milk but each protein differs in absorption rate and bioavailability, thus it is possible that each type of protein may contribute differently to the adaptations elicited through resistance training. Therefore, the purpose of this study was to investigate the potential effects of ingestion of two types of protein in conjunction with a controlled resistance training program in collegiate female basketball players. Sixteen NCAA Division III female basketball players were matched according to body mass and randomly assigned in a double-blind manner to consume 24 g whey protein (WP) (N = 8, 20.0 ± 1.9 years, 1.58 ± 0.27 m, 66. 0 ± 4.9 kg, 27.0 ± 4.9 %BF) or 24 g casein protein (CP) (N = 8, 21.0 ± 2.8 years, 1.53 ± 0.29 m, 68.0 ± 2.9 kg, 25.0 ± 5.7 %BF) immediately pre- and post-exercise for eight weeks. Subjects participated in a supervised 4-day per week undulating periodized training program. At 0 and 8 weeks, subjects underwent DXA body composition analysis, and at 0 and 8 weeks underwent one repetition maximum (1RM) strength, muscle endurance, vertical jump, 5-10-5 agility run, and broad jump testing sessions. Data were analyzed using repeated measures ANOVA, and presented as mean ± SD changes from baseline after 60 days. No significant group x time interaction effects were observed among groups in changes in any variable (p > 0.05). A significant time effect was observed for body fat (WP: -2.0 ± 1.1 %BF; CP: -1.0 ± 1.6 %BF, p < 0.001), lean mass (WP: 1.5 ± 1.0 kg; CP: 1. 4 ± 1.0 kg, p < 0.001), fat mass (WP: -1.3 ± 1.2 kg; CP: -0.6 ± 1.4 kg, p < 0.001), leg press 1RM (WP: 88.7 ± 43.9 kg; CP: 90.0 ± 48.5 kg, p < 0.001), bench press 1RM (WP: 7.5 ± 4.6 kg; CP: 4.3 ± 4.5 kg, p = 0.01), vertical jump (WP: 4.1 ± 1.8 cm; CP: 3.5 ± 7.6 cm, p < 0.001), 5-10-5 (WP: -0.3 ± 0.2 sec; CP: -0.09 ± 0.42 sec, p < 0.001), and broad jump (WP: 10.4 ± 6.6 cm; CP: 12. 9 ± 7.1 cm, p < 0.001). The combination of a controlled undulating resistance training program with pre- and post-exercise protein supplementation is capable of inducing significant changes in performance and body composition. There does not appear to be a difference in the performance- enhancing effects between whey and casein proteins.

Key points

• Females can experience and increase in performance makers from consuming protein after resistance training.
• Females can have a decreased body fat composition when ingesting protein with daily resistance training and conditioning.
• There was no significant difference in performance markers between whey and casein.

Key words: whey, casein, protein, females, body composition, performance     

Association between alcohol-cue modulated startle reactions and drinking behaviour in alcohol dependent patients — results of the PREDICT study

Previous research on alcohol dependent patients has shown that variations in eyeblink startle response can be used as an indicator of their emotional responses to alcohol-related stimuli. Postulating that reactions on substance associated stimuli are controlled by either a negative or a positive affective processing system, we expect that abstinent alcoholics react differently (within-group) in the emotional evaluation of alcohol cues. Furthermore, we assumed the startle response to covary with medication response to acamprosate and naltrexone.     

Cleavage of tensin during cytoskeleton disruption in YTX-induced apoptosis.

Yessotoxin (YTX) is a marine algal toxin previously shown to induce apoptosis in L6 and BC3H1 myoblast cell lines. Disassembly of the F-actin cytoskeleton and cleavage of tensin, a cytoskeletal protein localised at the focal adhesion contacts, appear during this apoptotic process. Tensin binds to actin filaments at the focal adhesion contacts and it links the actin cytoskeleton to the extracellular matrix (ECM). This binding occurs via integrin receptors and it makes tensin a potential link between the actin cytoskeleton and signal transduction. This study evaluates disruption in the F-actin cytoskeleton and change of tensin in myoblast cell lines exposed to 100 nM YTX up to 72 h. YTX treatment cleaves tensin and makes it translocate to the cell centre. Tensin has normally a role in the maintenance of cell shape and YTX-treatment may therefore alter the shape of the cells. YTX exposure also induces formation of lamellas associated with pseudopodia. Alternative linkages and cytoskeletal proteins anchoring the actin filaments to focal contacts remain to be identified.