335 research outputs found
Effects of pollen collection on colony development and in the bromatological composition Apis mellifera L. pupae
Africanized bees (Apis mellifera L.) were studied in the Botucatu region (São Paulo State), Brazil, from August to November, 1996, with the objective of quantifying pollen trapping and its effects on colony development and composition of worker bee pupae. Mean trapped pollen yield was 1.47 kg/beehive. Trapping had little effect on brood production, causing only a 9.7% reduction in total worker brood area and a 4.0% reduction in drone brood area, as compared to the treatment without pollen types. Pollen harvest did not affect the bromatological composition of worker pupae (white bodies and slightly pigmented eyes), mean values obtained for both treatments being 18.87% dry matter, 48.07% crude protein, 18.52% ether extract and 3.72% ash
Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal. A perda de uma cópia deste gene na síndrome de Turner (ST) explica dois terços da baixa estatura observada nesta síndrome. A haploinsuficiência do SHOX é detectada em 77% dos pacientes com discondrosteose de Leri-Weill, uma forma comum de displasia esquelética de herança autossômica dominante e em 3% das crianças com baixa estatura idiopática (BEI), tornando os defeitos neste gene a principal causa monogênica de baixa estatura. A medida da altura sentada em relação à altura total (Z da AS/AT para idade e sexo) é uma forma simples de identificar a desproporção corpórea e, associada ao exame cuidadoso do paciente e de outros membros da família, auxilia na seleção de pacientes para o estudo molecular do SHOX. O uso de hormônio de crescimento (GH) está bem estabelecido na ST e em razão da causa comum da baixa estatura com o de crianças com defeitos isolados do SHOX o tratamento destes pacientes com GH é também proposto. Neste artigo será revisado os aspectos clínicos, moleculares e terapêuticos da haploinsuficiência do SHOX.Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short stature observed in Turner syndrome (TS) patients. Heterozygous mutations in SHOX are observed in 77% of patients with Leri-Weill dyschondrosteosis, a common dominant inherited skeletal dysplasia and in 3% of children with idiopathic short stature, indicating that SHOX defects are the most frequent monogenetic cause of short stature. The sitting height/height ratio (SH/H) standard deviation score is a simple way to assess body proportions and together with a careful exam of other family members, effectively selected a group of patients that presented a high frequency of SHOX mutations. Growth hormone treatment of short stature due to TS is well established and considering the common etiology of short stature in patients with isolated defects of SHOX gene, this treatment is also proposed for these patients. Here, we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq
Bromatological and mineral compositions of collected pollen for africanized honeybees (Apis mellifera L.) in Botucatu, São Paulo State
The bromatological and mineral compositions of pollen collected by Africanized honeybees (Apis mellifera L.) in the Botucatu region, São Paulo State, Brazil, from August to November, 1966, were investigated. The pollen collections from six beehives, at weekly intervals, lasted for seven consecutive days. Mean fresh pollen composition was: 75.9% dry matter, 26.2% crude protein (CP), 5.1% ether extract (EE), 2.6% ash, 1.1% crude fiber, 3.58% nitrogen, 0.43% phosphorus, 0.67% potassium, 0.26% calcium, 0.08% magnesium, 0.21% sulfur, 114.2 ppm iron, 88.4 ppm zinc, 15.0 ppm copper, 32.4 ppm manganese, and 9.9 ppm boron. Statistical analysis showed that pollen collected in October had the highest contents of CP, and of the elements P, S and Mn compared to the other months. According to cluster and principal components analyses for bromatological composition, the variables with most and least discriminatory power were the percentages of CP and EE, respectively. As to mineral composition, the most discriminatory variables were S, Mn, and N, while the least discriminatory were Mg, B, and K
Photonic band gaps in materials with triply periodic surfaces and related tubular structures
We calculate the photonic band gap of triply periodic bicontinuous cubic
structures and of tubular structures constructed from the skeletal graphs of
triply periodic minimal surfaces. The effect of the symmetry and topology of
the periodic dielectric structures on the existence and the characteristics of
the gaps is discussed. We find that the C(I2-Y**) structure with Ia3d symmetry,
a symmetry which is often seen in experimentally realized bicontinuous
structures, has a photonic band gap with interesting characteristics. For a
dielectric contrast of 11.9 the largest gap is approximately 20% for a volume
fraction of the high dielectric material of 25%. The midgap frequency is a
factor of 1.5 higher than the one for the (tubular) D and G structures
Disease Gene Characterization through Large-Scale Co-Expression Analysis
In the post genome era, a major goal of biology is the identification of specific roles for individual genes. We report a new genomic tool for gene characterization, the UCLA Gene Expression Tool (UGET).Celsius, the largest co-normalized microarray dataset of Affymetrix based gene expression, was used to calculate the correlation between all possible gene pairs on all platforms, and generate stored indexes in a web searchable format. The size of Celsius makes UGET a powerful gene characterization tool. Using a small seed list of known cartilage-selective genes, UGET extended the list of known genes by identifying 32 new highly cartilage-selective genes. Of these, 7 of 10 tested were validated by qPCR including the novel cartilage-specific genes SDK2 and FLJ41170. In addition, we retrospectively tested UGET and other gene expression based prioritization tools to identify disease-causing genes within known linkage intervals. We first demonstrated this utility with UGET using genetically heterogeneous disorders such as Joubert syndrome, microcephaly, neuropsychiatric disorders and type 2 limb girdle muscular dystrophy (LGMD2) and then compared UGET to other gene expression based prioritization programs which use small but discrete and well annotated datasets. Finally, we observed a significantly higher gene correlation shared between genes in disease networks associated with similar complex or Mendelian disorders.UGET is an invaluable resource for a geneticist that permits the rapid inclusion of expression criteria from one to hundreds of genes in genomic intervals linked to disease. By using thousands of arrays UGET annotates and prioritizes genes better than other tools especially with rare tissue disorders or complex multi-tissue biological processes. This information can be critical in prioritization of candidate genes for sequence analysis
Maroon Archaeology Beyond the Americas: A View From Kenya
Archaeological research on Maroons—that is, runaway slaves—has been largely confined to the Americas. This essay advocates a more global approach. It specifically uses two runaway slave communities in 19th-century coastal Kenya to rethink prominent interpretive themes in the field, including “Africanisms,” Maroons’ connections to indigenous groups, and Maroon group cohesion and identity. This article’s analysis demonstrates that the comparisons enabled by a more globalized perspective benefit the field. Instead of eliding historical and cultural context, these comparisons support the development of more localized and historically specific understandings of individual runaway slave communities both in Kenya and throughout the New World
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of hypopituitarism poses difficulties to select the order of genes to analyse. The objective of our study is to screen hypopituitarism genes (candidate and previously related genes) simultaneously using a target gene panel in patients with congenital hypopituitarism.
Methods: Screening of 117 subjects with congenital hypopituitarism for pathogenic variants in 26 genes associated with congenital hypopituitarism by massively parallel sequencing using a customized target gene panel.
Results: We found three novel pathogenic variants in OTX2 c.295C>T:p.Gln99*, GLI2 c.1681G>T:p.Glu561* and GHRHR c.820_821insC:p.Asp274Alafs*113, and the previously reported variants in GHRHR c.57+1G>A and PROP1 [c.301_302delAG];[c.109+1G>A].
Conclusions: Our results indicate that a custom-designed panel is an efficient method to screen simultaneously variants of biological and clinical relevance for congenital GH deficiency. A genetic diagnosis was possible in 5 out of 117 (4%) patients of our cohort. We identified three novel pathogenic variants in GHRHR, OTX2 and GLI2 expanding the spectrum of variants associated with congenital hypopituitarism
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