Rapid and efficient generation of neural progenitors from adult bone marrow stromal cells by hypoxic preconditioning

published_or_final_versio

Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing and counseling are not as common as in the West. To reduce the barrier of testing, a multiplex SNaPshot genotyping panel that targeted 25 Chinese BRCA1/2 mutation hotspots was developed, and its feasibility was evaluated in a local cohort of 441 breast and 155 ovarian cancer patients. For those who tested negative, they were then subjected to full-gene testing with next-generation sequencing (NGS). BRCA mutation prevalence in this cohort was 8.05% and the yield of the recurrent panel was 3.52%, identifying over 40% of the mutation carriers. Moreover, from 79 Chinese breast cancer cases recruited overseas, 2 recurrent mutations and one novel BRCA2 mutation were detected by the panel and NGS respectively. The developed genotyping panel showed to be an easy-to-perform and more affordable testing tool that can provide important contributions to improve the healthcare of Chinese women with cancer as well as family members that harbor high risk mutations for HBOC

Formation and Propagation of Matter Wave Soliton Trains

Attraction between atoms in a Bose-Einstein-Condensate renders the condensate unstable to collapse. Confinement in an atom trap, however, can stabilize the condensate for a limited number of atoms, as was observed with 7Li, but beyond this number, the condensate collapses. Attractive condensates constrained to one-dimensional motion are predicted to form stable solitons for which the attractive interactions exactly compensate for the wave packet dispersion. Here we report the formation or bright solitons of 7Li atoms created in a quasi-1D optical trap. The solitons are created from a stable Bose-Einstein condensate by magnetically tuning the interactions from repulsive to attractive. We observe a soliton train, containing many solitons. The solitons are set in motion by offsetting the optical potential and are observed to propagate in the potential for many oscillatory cycles without spreading. Repulsive interactions between neighboring solitons are inferred from their motion

Genetic parameters of body weight, egg production and shell quality traits in the Brown Tsaiya laying duck

International audienc

Prediction of genetic gains in body weight, egg production and shell quality traits in the Brown Tsaiya laying duck (Anas platyrhynchos)

An evaluation was made of the expected genetic gain and predicted genetic responses for egg weight and body weight at 40 weeks of age (EW40, BW40), number of eggs laid up to 52 weeks of age (NEGG52), eggshell strength at 30 or 40 weeks of age (ES30 or ES40) in Brown Tsaiya laying ducks selected for five generations by independent culling levels, first on a linear phenotypic index for the first three traits, and then on ES30 or ES40. The genetic parameters estimated in the base population were used to calculate the expected genetic gains in one generation of selection. The genetic responses per generation were evaluated by averaging the multitrait best linear unbiased prediction (BLUP) animal model predictors and regressing them on generation number. The per generation genetic responses were +0.177 g (EW40); +8.029 g (BW40); +0.935 eggs (NEGG52); +0.017 k2 g/cm (ES30); +0.014 kC2 gM/ (ES40). These values fit the expected genetic gains for NEGG52, but they are higher than those for BW40 and lower than those for ES30 and ES40. It was shown that, compared to the selection method which has been used and with the same selection intensity in female ducks (i = 1.271), constrained selection based on a phenotypic selection index or a genetic index could increase the expected genetic gains in NEGG52 by a factor of 3.5 or 5.7, respectively, while maintaining constant EW40 and BW40.Les gains génétiques attendus et les réponses génétiques prédites du poids de l’oeuf et du poids corporel à l’âge de 40 semaines (EW40, BW40), du nombre d’oeufs pondus jusqu’à l’âge de 52 semaines (NEGG52), de la solidité de la coquille aux âges de 30 et 40 semaines (ES30 ou ES4O) chez la cane pondeuse Tsaiya Brune sélectionnée pendant cinq générations ont été calculés. La sélection par niveaux indépendants était basée sur un premier choix des 50% meilleures femelles d’après leurs valeurs individuelles d’un indice de sélection massale sur les trois caractères EW40, BW40, NEGG52 et sur un deuxième choix portant sur les valeurs individuelles de ES30 (deux premières générations) puis de ES40 à partir de la troisième génération. Les reproducteurs mâles étaient choisis de façon comparable à partir de l’information sur leurs sœurs. Au total, 3 482 femelles et 2 093 mâles ont été étudiés. Pendant les quatre premières générations, en moyenne 25,6% des femelles et 12,2% des mâles furent sélectionnés. À partir des paramètres génétiques de la population de base, les gains génétiques attendus ont été calculés. Les réponses génétiques par génération ont été estimées par ailleurs à partir des moyennes des prédicteurs de valeurs génétiques du BL UP modèle animal, en calculant la régression des moyennes en fonction du numéro de génération. Les réponses par génération sont de + 0,177g (EW40); de + 8, 029 g (BWl, 0); de + 0, 935 oeufs (NEGG52); de + 0, 017 k2g/cM (ES30); de + 0, 014 k2 g/cm (ES40). Ces valeurs correspondent au gain génétique attendu pour NEGG52, elles sont plus fortes pour BW40 et plus faibles pour ES30 and ES40. Il est montré que, par rapport à la méthode de sélection qui a été appliquée et avec la même intensité de sélection chez les canes (i = 1, 271), la sélection avec contraintes sur un indice de sélection massale ou un indice génétique sur quatre caractères pourrait multiplier le gain génétique attendu de NEGG52 par 3,5 et 5,7 respectivement, tout en maintenant constant le poids de l'œuf (EW40) et le poids corporel (BW40)

Brain perfusion imaging with voxel-based analysis in secondary progressive multiple sclerosis patients with a moderate to severe stage of disease: a boon for the workforce

Background: The present study was carried out to evaluate cerebral perfusion in multiple sclerosis (MS) patients with a moderate to severe stage of disease. Some patients underwent hyperbaric oxygen therapy (HBOT) and brain perfusion between before and after that was compared. Methods: We retrospectively reviewed 25 secondary progressive (SP)-MS patients from the hospital database. Neurological disability evaluated by Expanded Disability Status Scale Score (EDSS). Brain perfusion was performed by (99 m) Tc-labeled bicisate (ECD) brain SPECT and the data were compared using statistical parametric mapping (SPM). In total, 16 patients underwent HBOT. Before HBOT and at the end of 20 sessions of oxygen treatment, 99mTc-ECD brain perfusion single photon emission computed tomography (SPECT) was performed again then the results were evaluated and compared. Brain perfusion was performed by (99 m) Tc-labeled bicisate (ECD) brain SPECT and the data were compared using statistical parametric mapping (SPM). Results: A total of 25 SP-MS patients, 14 females (56 %) and 11 males (44 %) with a mean age of 38.92 ± 11. 28 years included in the study. The mean disease duration was 8.70 ± 5.30 years. Of the 25 patients, 2 (8 %) had a normal SPECT and 23 (92 %) had abnormal brain perfusion SPECT studies. The study showed a significant association between severity of perfusion impairment with disease duration and also with EDSS (P <0.05). There was a significant improvement in pre- and post-treatment perfusion scans (P <0.05), but this did not demonstrate a significant improvement in the clinical subjective and objective evaluation of patients (P >0.05). Conclusions: This study depicted decreased cerebral perfusion in SP-MS patients with a moderate to severe disability score and its association with clinical parameters. Because of its accessibility, rather low price, practical ease, and being objective quantitative information, brain perfusion SPECT can be complementing to other diagnostic modalities such as MRI and clinical examinations in disease surveillance and monitoring. The literature on this important issue is extremely scarce, and follow up studies are required to assess these preliminary results

Joint effects of known type 2 diabetes susceptibility loci in genome-wide association study of Singapore Chinese: The Singapore Chinese health study

Background: Genome-wide association studies (GWAS) have identified genetic factors in type 2 diabetes (T2D), mostly among individuals of European ancestry. We tested whether previously identified T2D-associated single nucleotide polymorphisms (SNPs) replicate and whether SNPs in regions near known T2D SNPs were associated with T2D within the Singapore Chinese Health Study. Methods: 2338 cases and 2339 T2D controls from the Singapore Chinese Health Study were genotyped for 507,509 SNPs. Imputation extended the genotyped SNPs to 7,514,461 with high estimated certainty (r2>0.8). Replication of known index SNP associations in T2D was attempted. Risk scores were computed as the sum of index risk alleles. SNPs in regions ±100 kb around each index were tested for associations with T2D in conditional fine-mapping analysis. Results: Of 69 index SNPs, 20 were genotyped directly and genotypes at 35 others were well imputed. Among the 55 SNPs with data, disease associations were replicated (at p<0.05) for 15 SNPs, while 32 more were directionally consistent with previous reports. Risk score was a significant predictor with a 2.03 fold higher risk CI (1.69-2.44) of T2D comparing the highest to lowest quintile of risk allele burden (p = 5.72×10-14). Two improved SNPs around index rs10923931 and 5 new candidate SNPs around indices rs10965250 and rs1111875 passed simple Bonferroni corrections for significance in conditional analysis. Nonetheless, only a small fraction (2.3% on the disease liability scale) of T2D burden in Singapore is explained by these SNPs. Conclusions: While diabetes risk in Singapore Chinese involves genetic variants, most disease risk remains unexplained. Further genetic work is ongoing in the Singapore Chinese population to identify unique common variants not already seen in earlier studies. However rapid increases in T2D risk have occurred in recent decades in this population, indicating that dynamic environmental influences and possibly gene by environment interactions complicate the genetic architecture of this disease. © 2014 Chen et al