Reticulocyte counts before and after exercise: Trained vs. sedentary

Summary Reticulocyte count comparisons were made on ten trained and ten sedentary college males before and immediately after heavy exercise and following 15 min of recovery. No significant differences occurred within or between groups; in fact, all means were within the normal range. Previous findings were discussed. It was concluded that a physiologically significant increase in reticulocytes does not occur as a result of exercise or training and therefore can not be a mechanism for increased maximal oxygen uptake.     

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations.     

Determining optimal two-beam axial orientations for heart sparing in left-sided breast cancer patients

BACKGROUND AND PURPOSE: The optimal intensity fluence profile of a beam depends on the profiles of other beams but most optimizations assume fixed beam orientations, a priori. Breast cancer radiotherapy attempts to cover the target and to spare critical structures such as the heart and lungs. The study aims are (1) to determine and document the optimal two-beam orientation that best spares the heart for left-sided breast cancer patients and (2) to investigate the influence of the treatment technique (i.e., conformal versus intensity modulation) on the optimal objective cost function. MATERIAL AND METHODS: Ten left-sided breast cancer patients were planned using a conformal (3DCRT) and a simplified intensity modulated (sIMRT) technique using predefined segments and different two-beam orientations. Optimal segment weights were determined exhaustively for all axial two-beam combinations, in 5 degree increments, by minimizing a quadratic objective cost function. The resulting objective cost function was analyzed with respect to target geometry and treatment technique. RESULTS: The sIMRT plans are generally less sensitive to beam orientation compared to 3DCRT plans. Optimal two-beam orientations for 3DCRT and sIMRT plans exist and they correspond to a hinge angle of approximately 188 degrees and 160 degrees or 210 degrees (the latter is bimodal), respectively. CONCLUSIONS: The optimization software is a useful tool that can test many different beam combinations and estimate their associated objective cost values. Afterwards, the most promising beam orientations could be re-optimized under the TPS to fine-tune and verify the dose distributions. Optimal uniform two-beam orientations for the breast consist of opposing tangential medial and lateral beams. Optimal nonuniform two-beam orientations for left-sided breast cancers are bimodal, containing hinge angles around 160 degrees and 210 degrees. Nonuniform beam techniques are less sensitive to beam orientation compared to uniform beam techniques and result in significantly improved heart sparing but at a cost of slightly compromised planning target volume coverage.     

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.     

Properties of a Hemolysin Produced by Group B Streptococci

A hemolysin that appears to be responsible for the zones of beta-hemolysis surrounding colonies of group B streptococci (Streptococcus agalactiae) on blood agar plates has been isolated and partially purified. No soluble hemolysin was detectable in the supernatants of streptococcal cultures grown in several types of media. However, hemolytic activity was detected when streptococci were incubated with erythrocytes, and soluble hemolysin was isolated when bacterial suspensions were incubated in the presence of a variety of agents, including calf serum, albumin, Tween 80, and starch. Glucose and other fermentable carbohydrates stimulated hemolysin production, and metabolic inhibitors greatly reduced the titer of hemolysin that could be recovered, suggesting that cellular metabolism is necessary for hemolysin production or release. The soluble hemolysin was concentrated by ammonium sulfate precipitation and partially purified by gel filtration. Agents known to inhibit other streptococcal hemolysins, including phospholipids, trypan blue, proteases, and cholesterol, were tested for their effect on the group B hemolysin. Only the phospholipids inhibited hemolysin activity. The group B streptococcal hemolysin appears to be similar to, but distinct from, streptolysin S produced by Streptococcus pyogenes.     

Ellis‐van Creveld syndrome in a patient from Tanzania

We report an African infant with Ellis‐van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub‐Saharan Africa.     

Mitochondrial DNA Heterogeneity in Tunisian Berbers

Berbers live in groups scattered across North Africa whose origins and genetic relationships with their neighbours are not well established. The first hypervariable segment of the mitochondrial DNA (mtDNA) control region was sequenced in a total of 155 individuals from three Tunisian Berber groups and compared to other North Africans. The mtDNA lineages found belong to a common set of mtDNA haplogroups already described in North Africa. Besides the autochthonous North African U6 haplogroup, a group of L3 lineages characterized by the transition at position 16041 seems to be restricted to North Africans, suggesting that an expansion of this group of lineages took place around 10500 years ago in North Africa, and spread to neighbouring populations. Principal components and the coordinate analyses show that some Berber groups (the Tuareg, the Mozabite, and the Chenini‐Douiret) are outliers within the North African genetic landscape. This outlier position is consistent with an isolation process followed by genetic drift in haplotype frequencies, and with the high heterogeneity displayed by Berbers compared to Arab samples as shown in the AMOVA. Despite this Berber heterogeneity, no significant differences were found between Berber and Arab samples, suggesting that the Arabization was mainly a cultural process rather than a demographic replacement.     

企业员工应对方式与心理健康之间的关系

目的：验证不同应对方式对心理健康的单独与共同影响。方法：对4745名被试用分层回归的方法分析不同应对方式对心理健康的单独影响和交互作用。结论：单独使用“消极应对”的应对方式,对心理健康水平存在不利影响;而单独使用“积极应对”的应对方式能在一定程度上改善心理健康水平。“消极应对”与“积极应对”两种应对方式结合使用能显著改善心理健康水平,比单独使用这两种应对方式对心理健康更有利。     

Sequence-Based analysis of the HLA-DRB1 polymorphism in Metalsa Berber and Chaouya Arabic-speaking groups from Morocco

To examine the genetic diversity in Morocco, the polymorphism at the HLA-DRB1 locus was investigated in two populations: the Metalsa group consisting of Berbers from north Morocco (who speak the Tarifit language and live in the Nador area), and the Chaouya group who are Arabic-speaking people from west Morocco (Atlantic coast) living in the Settat area. The DRB1 alleles of 197 healthy unrelated individuals were identified by direct DNA sequencing of exon 2 using fluorescently-labeled primers. A total of 28 and 29 alleles at DRB1 locus were identified in the Metalsa and Chaouya groups, respectively. The most frequent alleles in the Metalsa group are DRB1*03011 (20.2%), DRB1*0701 (12.12%), and DRB1*1302 (11.11%). In the Chaouya group, DRB1*0701 (16.33%), DRB1*15011 (12.76%), and DRB1*03011 (11.73%) are most common. Each population exhibits some specific variants and some uncommon alleles. The frequency of the DRB1*03011 allele differs significantly between the two populations (p = 0.0311). The DRB1 frequency distributions in the two groups suggest the effects of balancing selection. The interpopulation analysis highlighted a strong relatedness, based on genetic distances, between the two Moroccan groups and the other north Africans (the Moroccans from El Jadida area, Moroccan Souss Berbers, Algerians, and Tunisians), and to a lesser extent with the Iberians, French, and Ethiopians.     

Identification of an immunodominant 32-kilodalton membrane protein of Leishmania donovani infantum promastigotes suitable for specific diagnosis of Mediterranean visceral leishmaniasis.

Sera from 35 patients suffering from Mediterranean visceral leishmaniasis (caused by Leishmania donovani infantum) and 59 patients with various forms of cutaneous leishmaniasis prevalent in the sub-Mediterranean countries (caused by Leishmania major, L. donovani infantum, or Leishmania tropica) were tested by immunoblotting and enzyme-linked immunosorbent assay (ELISA) with both membrane and soluble antigens prepared from L. donovani infantum parasites. Control sera were from healthy children (n = 41), adults with nonleishmanial diseases (n = 40), and patients with Chagas' disease (n = 12). A P32 antigen present in the membrane preparation from L. donovani infantum parasites was recognized by 95% of serum specimens from patients with Mediterranean visceral leishmaniasis but not by serum specimens from patients with cutaneous leishmaniasis or sera from control individuals. An ELISA with electroeluted P32 antigen was found to have a specificity and sensitivity of 94% in the serodiagnosis of Mediterranean visceral leishmaniasis. Healthy children with asymptomatic Leishmania infection were seronegative for the P32 antigen by ELISA. These results suggest that antibodies to P32 antigen develop only in patients with visceral leishmaniasis and that the P32 ELISA may be useful in areas where the disease is endemic for discriminating between patients with this disease and those with other clinical conditions.