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

Introduzione soft alla matematica per l'economia e la finanza: I SISTEMI LINEARI

Quaderni di didattica. Dipartimento di Matematica Applicata. Università Ca'Foscari di Venezia

Integrated management of ash from industrial and domestic combustion : a new sustainable approach for reducing greenhouse gas emissions from energy conversion

This work supports, for the first time, the integrated management of waste materials arising from industrial processes (fly ash from municipal solid waste incineration and coal fly ash), agriculture (rice husk ash), and domestic activities (ash from wood biomass burning in domestic stoves). The main novelty of the paper is the reuse of wood pellet ash, an underestimated environmental problem, by the application of a new technology (COSMOS-RICE) that already involves the reuse of fly ashes from industrial and agricultural origins. The reaction mechanism involves carbonation: this occurs at room temperature and promotes permanent carbon dioxide sequestration. The obtained samples were characterized using XRD and TGA (coupled with mass spectroscopy). This allowed quantification of the mass loss attributed to different calcium carbonate phases. In particular, samples stabilized using wood pellet ash show a weight loss, attributed to the decomposition of carbonates greater than 20%. In view of these results, it is possible to conclude that there are several environmental benefits from wood pellet ash reuse in this way. In particular, using this technology, it is shown that for wood pellet biomass the carbon dioxide conversion can be considered negative

Ritmo e perfil circadiano em pacientes com epilepsia mioclônica juvenil e epilepsia de lobo temporal

This study intended to compare the circadian rhythm and circadian profile between patients with juvenile myoclonic epilepsy (JME) and patients with temporal lobe epilepsy (TLE). Method We enrolled 16 patients with JME and 37 patients with TLE from the Outpatient Clinic of UNICAMP. We applied a questionnaire about sleep-wake cycle and circadian profile. Results Fourteen (87%) out of 16 patients with JME, and 22 out of 37 (59%) patients with TLE reported that they would sleep after seizure (p < 0.05). Three (19%) patients with JME, and 17 (46%) reported to be in better state before 10:00 AM (p < 0.05). Conclusion There is no clear distinct profile and circadian pattern in patients with JME in comparison to TLE patients. However, our data suggest that most JME patients do not feel in better shape early in the day73136Este estudo pretende comparar o ritmo circadiano e o perfil circadiano entre pacientes com epilepsia mioclônica juvenil (EMJ) e epilepsia de lobo temporal (ELT). Método Nós entrevistamos 16 pacientes com EMJ e 37 com ELT do ambulatório da UNICAMP. Nós aplicamos um questionário sobre ciclo sono-vigília e perfil circadiano. Resultados Quatorze (87%) de 16 pacientes com EMJ e 22 de 37 (59%) pacientes com ELT relataram que eles apresentam sonolência pós-crise (p < 0,05). Três (19%) pacientes com EMJ e 17 (46%) relataram um melhor estado geral antes das 10h00min (p < 0,05). Conclusão Não há uma clara diferença de ritmo e de perfil circadiano entre pacientes com EMJ e ELT. No entanto, nossos dados sugerem que a maioria dos pacientes com EMJ não se sentem em sua melhor forma cedo pela manh

Ritmo e perfil circadiano em pacientes com epilepsia mioclônica juvenil e epilepsia de lobo temporal

v. 73n.13

Circadian Rhythm And Profile In Patients With Juvenile Myoclonic Epilepsy And Temporal Lobe Epilepsy.

This study intended to compare the circadian rhythm and circadian profile between patients with juvenile myoclonic epilepsy (JME) and patients with temporal lobe epilepsy (TLE). We enrolled 16 patients with JME and 37 patients with TLE from the Outpatient Clinic of UNICAMP. We applied a questionnaire about sleep-wake cycle and circadian profile. Fourteen (87%) out of 16 patients with JME, and 22 out of 37 (59%) patients with TLE reported that they would sleep after seizure (p < 0.05). Three (19%) patients with JME, and 17 (46%) reported to be in better state before 10:00 AM (p < 0.05). There is no clear distinct profile and circadian pattern in patients with JME in comparison to TLE patients. However, our data suggest that most JME patients do not feel in better shape early in the day.733-

Introduzione soft alla matematica per l'economia e la finanza: il concetto di funzione come elemento base della modellizzazione

Quaderni di didattica. Dipartimento di Matematica Applicata. Università Ca'Foscari di Venezia

A TWO-STEP APPROACH FOR THE SEISMIC ASSESSMENT OF MASONRY STRUCTURES ACCOUNTING FOR THE ACTUAL MASONRY PATTERN

Seismic assessment of masonry structures is a pressing concern in the scientific community. Over the last few decades, significant progress has been made in developing numerical modelling strategies for masonry. However, due to the unique mechanics of masonry, which exhibit a quasi-brittle and anisotropic behaviour, there is no trade-off between accuracy and computational efficiency when conducting numerical simulations of masonry structures. This study proposes a new approach to conduct in-plane numerical simulations of masonry structures, which couple limit and pushover analyses considering the actual masonry pattern. The first step of the procedure involves a block-based limit analysis, which considers the actual masonry pattern. Macroblocks, i.e., the portions which compose the collapse mechanism, are then identified using an ad-hoc algorithm that searches for the pivot point of the obtained failure mechanisms. In the second step, a pushover analysis is conducted on the simplified structure composed of macroblocks, considered as continuum bodies, interacting via frictional interfaces. The proposed approach is preliminary tested on two structural-scale benchmarks made of dry-stack masonry, showing promising results

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