The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Subtelomeric I-scei-mediated Double-strand Breaks Are Repaired By Homologous Recombination In Trypanosoma Cruzi

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Trypanosoma cruzi chromosome ends are enriched in surface protein genes and pseudogenes (e.g., trans-sialidases) surrounded by repetitive sequences. It has been proposed that the extensive sequence variability among members of these protein families could play a role in parasite infectivity and evasion of host immune response. In previous reports we showed evidence suggesting that sequences located in these regions are subjected to recombination. To support this hypothesis we introduced a double-strand break (DSB) at a specific target site in a T. cruzi subtelomeric region cloned into an artificial chromosome (pTAC). This construct was used to transfect T. cruzi epimastigotes expressing the I-SceI meganuclease. Examination of the repaired sequences showed that DNA repair occurred only through homologous recombination (HR) with endogenous subtelomeric sequences. Our findings suggest that DSBs in subtelomeric repetitive sequences followed by HR between them may contribute to increased variability in T. cruzi multigene families. © 2016 Chiurillo, Moraes Barros, Souza, Marini, Antonio, Cortez, Curto, Lorenzi, Schijman, Ramirez and da Silveira.7DEC11/51475-3, FAPESP, Fundação de Amparo à Pesquisa do Estado de São Paulo11/51693-0, FAPESP, Fundação de Amparo à Pesquisa do Estado de São Paulo306591/2015-4, CNPq, Conselho Nacional de Desenvolvimento Científico e TecnológicoFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Search for black holes and other new phenomena in high-multiplicity final states in proton-proton collisions at root s=13 TeV

Peer reviewe

Search for high-mass diphoton resonances in proton-proton collisions at 13 TeV and combination with 8 TeV search

Peer reviewe

Search for heavy resonances decaying into a vector boson and a Higgs boson in final states with charged leptons, neutrinos, and b quarks

Peer reviewe

Measurement of the mass difference between top quark and antiquark in pp collisions at root s=8 TeV

Peer reviewe

Search for leptophobic Z ' bosons decaying into four-lepton final states in proton-proton collisions at root s=8 TeV

Peer reviewe

In situ estimation of indigestible compounds contents in cattle feed and feces using bags made from different textiles

The objective of this experiment was to evaluate estimates of concentration of indigestible dry matter (iDM), indigestible neutral detergent fiber (iNDF) and indigestible acid detergent fiber (iADF) in samples of cattle feed and feces processed at different particle sizes (1-, 2-, and 3-mm) using bags made from nylon (50 μm), F57 (Ankom®), and non-woven textile (NWT - 100 g/m²) in a in situ evaluation procedure. Eight samples of concentrates, seven samples of forages and two samples of cattle feces were used. The samples were put in the bags according to a ratio of 20 mg of dry matter/cm² of surface by using three bags of each textile for each size of particle, totaling 405 bags, which were submitted to ruminal incubation for 264 hours. The contents of indigestible compounds in the samples were evaluated sequentially. Blank bags were used for microscopic evaluation of textile physical integrity and for evaluation of the physical resistance. The presence of contaminants caused high variability of results of iDM, indicating that its using as internal marker should not be recommended. By using the textiles F57 and NWT, similar estimates for contents of iNDF and iADF were obtained whereas by using nylon (50 μm), the concentration of iNDF was underestimated, possibly because of loss of particles due to its porosity. Nylon presented loss of resistance in all analytical stages, expanding its probality of rupture, especially after extraction with acid detergent. For in situ evaluation of indigestible compounds, it is suggested grinding samples in 2-mm screen sieves.Objetivou-se avaliar as estimativas de concentração de matéria seca (MSi), fibra em detergente neutro (FDNi) e fibra em detergente ácido (FDAi) indigestíveis em amostras de alimentos e fezes bovinas processadas em diferentes tamanhos de partículas (1, 2 e 3 mm) utilizando-se sacos confeccionados com os tecidos nylon (50 μm), F57 (Ankom®) e tecido não-tecido (TNT - 100 g/m²) em procedimento de avaliação in situ. Foram utilizadas oito amostras de alimentos concentrados, sete de alimentos volumosos e duas de fezes bovinas. O material foi acondicionado nos sacos numa relação de 20 mg de matéria seca/cm² de superfície utilizando-se três sacos de cada tecido para cada tamanho de partícula, totalizando 405 sacos, que foram submetidos a incubação ruminal durante 264 horas. Os teores dos compostos indigestíveis nas amostras foram avaliados sequencialmente. Sacos em branco foram utilizados para avaliação microscópica da integridade física dos tecidos e para avaliação da resistência à tração. A presença de contaminantes causou alta variabilidade dos resultados de MSi, o que indica comprometimento de sua aplicação como indicador interno. Utilizando os tecidos F57 e TNT obtiveram-se estimativas similares para os teores de FDNi e FDAi, enquanto com o tecido nylon (50 μm) a concentração de FDNi foi subestimada, possivelmente em decorrência da perda de partículas devido à sua porosidade. O nylon apresentou perda de resistência em todas as etapas analíticas, o que amplia sua probabilidade de ruptura, principalmente após extração com detergente ácido. Para procedimentos in situ de avaliação de compostos indigestíveis, sugere-se a moagem de amostras em peneiras com porosidade de 2 mm

Jatropha curcasand Ricinus communisdisplay contrasting photosynthetic mechanisms in response to environmental conditions

Higher plants display different adaptive strategies in photosynthesis to cope with abiotic stress. In this study, photosynthetic mechanisms and water relationships displayed byJatropha curcasL. (physic nuts) andRicinus communisL. (castor bean), in response to variations in environmental conditions, were assessed.R. communis showed higher CO2 assimilation, stomatal and mesophyll conductance thanJ. curcas as light intensity and intercellular CO2 pressure increased. On the other hand,R. communis was less effective in stomatal control in response to adverse environmental factors such as high temperature, water deficit and vapor pressure deficit, indicating lower water use efficiency. Conversely,J. curcas exhibited higher photosynthetic efficiency (gas exchange and photochemistry) and water use efficiency under these adverse environmental conditions.R. communisdisplayed higher potential photosynthesis, but exhibited a lowerin vivo Rubisco carboxylation rate (Vcmax) and maximum electron transport rate (Jmax). During the course of a typical day, in a semiarid environment, with high irradiation, high temperature and high vapor pressure deficit, but exposed to well-watered conditions, the two studied species presented similar photosynthesis. Losing potential photosynthesis, but maintaining favorable water status and increasing non-photochemical quenching to avoid photoinhibition, are important acclimation mechanisms developed byJ. curcas to cope with dry and hot conditions. We suggest thatJ. curcas is more tolerant to hot and dry environments thanR. communis but the latter species displays higher photosynthetic efficiency under well-watered and non-stressful conditions