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

The prevalence of diabetes and stress hyperglycemia in the acute myocardial infarction patients

OBJETIVOS: Determinar a prevalência do diabetes melito (DM) e da hiperglicemia de estresse (HE) em pacientes com infarto agudo do miocárdio (IAM) admitidos em unidade de emergência cardiológica. MÉTODOS: Análise retrospectiva de 2.262 pacientes com IAM, avaliando, além da prevalência de diabetes referido, o diagnosticado e a hiperglicemia de estresse. RESULTADOS: Apesar de referido em 12,1% dos pacientes (H: 10,7%, M: 15,8%), o DM ocorria efetivamente em 24,8% (H: 22,9%, M: 29,7%) e a HE em 13,6% (H: 14,3%, M: 11,7%) dos indivíduos dessa população. Portanto, alterações glicêmicas ocorreram em 37,4% dos indivíduos com IAM (H: 37,2%, M: 41,4%). Nos pacientes com DM, observou-se maior precocidade etária do IAM, maior prevalência de óbitos (DM: 20,7%, ND:13,8%, HE: 13,4%) e de procedimentos cirúrgicos (ND: 33,8%, HE: 18,0%, DM: 21,7%). CONCLUSÃO: A elevada prevalência de DM e hiperglicemia de estresse observada em nosso estudo indica que as alterações glicêmicas constituem um dos mais importantes fatores de risco para o IAM.OBJECTIVES: To evaluate in our population the real prevalence of diabetes (DM) and stress hyperglycemia (HE) in patients with myocardial infarction (IAM) admitted in a cardiologic emergency unit. METHODS: A retrospective analysis of 2262 patients with AMI evaluating the prevalence of DM (referred and diagnosed) and stress hyperglycemia. RESULTS: Besides 12,1% of subjects were previously referred to be diabetic (men: 10.7% and women: 15.8%), diabetes was effectively diagnosed in 24,8% (M: 22,9%, W: 29,7%) and stress hyperglycemia in 13,6% HE of the patients (M: 14,3%, W: 11,7%) indicating that glycemic alterations were effectively observed in 37.2.% of the patients with IAM (M: 37,2%, W: 41,4%). In DM subjects IAM events occurred earlier, total intra-hospital mortality was higher (DM: 20.7%, ND: 13,8%, HE: 13,4%) and less surgical procedures were performed (ND 33.8%, DM: 21.7%, HE: 18.0%). CONCLUSION: The elevated DM and stress hyperglycemia prevalence observed in our study indicates that glycemic alterations is one of the most important risk factors for IAM

Particle size and potential toxic element speciation in municipal solid waste incineration (Mswi) bottom ash

The speciation of potentially toxic elements (PTE) in bottom ashes from municipal solid waste incineration (MSWI) and their relationship with grain size is investigated. The proposed enrichment of several potential toxic elements in lower sized grains is discussed, comparing the literature and new data on Parma’s waste incinerator. Results from X-ray fluorescence spectrometry (XRF), SEM-EDS, and XRD analyses on different grain size show (1) a positive Si-trend, correlated with grain size and few lithophile elements, such as Zr and Rb. In Parma, Al, K, Mg, and Fe also correlate with Si for the portion below 2 mm; (2) a Ca-trend, with a strong negative correlation with Si and a positive correlation with loss on ignition (LOI), S, Cl, Ti, Zn, Pb, and Sn. Mineralogical composition shows a little change in grain size, as in previous investigations, but with substantial differences in amorphous content. SEM-EDS analysis shows that the amorphous portion is highly heterogeneous, with portions coming from melting during incineration, residual glass, and unburnt loss on ignition (LOI). The above results show that PTE elements are either present as metals (such as Cu and Ni, or Zn, Pb and Sn) in carbonate, sulfate, and amorphous residual LOI portions

Mechanistic model for the compression strength prediction of masonry columns strengthened with fibre–polymer composites

A mechanistic model is presented for the strength prediction of squared columns made of masonry with a periodic arrangement and strengthened with a fibre–polymer composite jacketing. The formulation is based on an incremental plasticity theory that relies on equilibrium, compatibility, and kinematic equations. The strength domain of brick units and mortar joints is bounded by a multi-surface yield criterion: a Mohr–Coulomb strength domain with a linear cap in compression and a Rankine cut-off in tension. An elasto-plastic response with limited ductility is assumed for both masonry components. Differently, the FRP response is assumed elastic with a brittle failure governed by a limited tensile strain. Phenomenological-based assumptions are undertaken and justified. Details are also provided for the computational implementation of the procedure. The model accuracy is validated against experimental data on masonry squared columns and compared with existing standard-based formulas. Results demonstrate it provides real-time and accurate compressive strength solutions for squared masonry columns with or without a polymer-based wrapping and yet requiring few input parameters for the masonry constituents and reinforcement

Analisi intervallare per modelli di selezione del portafoglio

Rapporto del Dipartimento di Matematica Applicata dell'Università di Venezi

Seismic assessment of unreinforced masonry structures: a coupled mesoscale-DMEM approach

A numerical investigation is performed to investigate the potential of a discrete macro-element coupled with a mesoscale approach for the seismic assessment of unreinforced masonry structures. At first, parametric analyses are performed on a U-shape stone masonry prototype. Nonlinear static analyses are performed to investigate parameters that affect the results when a mesoscale masonry pattern representation is adopted. Results prove the suitability of a mesoscale representation of unreinforced masonry structures through a discrete macro-element approach. Furhthermore, it is demonstrated that an irregular placement of masonry units’ have a significant role in the structural response, either from a strength and ductility standpoints, when compared to a regular and periodic distribution of units

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

Real-time three-dimensional echocardiographic left ventricular systolic assessment: head-to-head comparison with cardiac computed tomography

Introduction Many authors have written about the need to treat patients closer to their beds, in order to observe them more as distinct people. The FAST HUG mnemonic, which consists of a checklist, was suggested as an idea to be employed everyday, by professionals dealing with patients who are critically ill. Minding these questions and motivated by an idea of follow patients' treatment closer, we have put into practice the instrument developed by Jean-Louis Vincent, evaluating the seven most important procedures in critically ill patients, and performed the FAST HUG.This checklist consists of seven items to be evaluated: Feeding, Analgesia, Sedation, Thromboembolic prophylaxis, Head-of-bed elevation, stress Ulcer prevention, and Glucose control. Knowing that the pressure ulcer is one of the challenges faced by ICU nurses, related to patients' need to stay at rest, to be under rigorous control or more complex therapy, it was decided to create the eighth item on the checklist: S, for skin. It stands for skin treatment, with the techniques used in the unit (Braden Scale), monitoring and evaluating closer skin integrity, and allowing nurses to calculate the scoring average of the Braden Scale, and greater incidence of ulcer in interned patients. Objective To expose the shortcomings found during the FAST HUG application, and to show results obtained with the eighth item of the FAST HUG mnemonic: S -Skin. Methods A descriptive study, based on institutional data, was carried out in the adult ICU of a private hospital. It was performed from 2 to 27 June 2008, except on weekends. Three hundred and twenty-three patients were involved. The checklist was carried out during the afternoons by the head nurse, or the assistant nurse of the unit. In order to do this job, a spreadsheet was elaborated to control data, updated every week. This spreadsheet provided graphics for a more objective control of the results obtained. The idea was exposed to the team, during a training program, and so we started the activities. Results and discussionFor 20 days of the checklist, 323 patients were evaluated for the eight items. The real shortcomings most frequently found were related to thromboembolic prophylaxis (85%) and glucose control (90%).These shortcomings were immediately evaluated and, depending on this analysis, this item would go on or not, according to the patient's clinical situation. The shortcomings found were tracked just as they were detected, and their cause would be discussed in a multidisciplinary group, and a solution was found. If the item was not observed, it would be 1.Vincent JL: Give your patient a fast hug (at least) once a day

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