Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72) years) with HH. Eight patients (53%) were homozygous and one (7%) was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2) or homozygous (N = 1) for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients

Patients with chronic renal insufficiency (CRI) have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron). A C282Y heterozygous mutation was found in 7/201 (3.4%) and H63D homozygous and heterozygous mutation were found in 2/201 (1.0%) and 46/201 (22.9%), respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation) did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08). From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10). Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR

Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene by real-time PCR followed by melting curve analysis using fluorescence resonance energy transfer (FRET) probes. The acceptor fluorophore may be replaced by a quencher, increasing multiplex possibilities. Real-time PCR results were compared to the results of sequencing and conventional PCR followed by restriction digestion and detection by agarose gel electrophoresis (PCR-RFLP). Genotypes from 80 individuals obtained both by the conventional PCR-RFLP method and quenched-FRET real-time PCR were in full agreement. Sequencing also confirmed the results obtained by the new method, which proved to be an accurate, rapid and cost-effective diagnostic assay. Our findings demonstrate the usefulness of real-time PCR for the simultaneous detection of mutations in the HFE gene, which allows a reduction of a significant amount of time in sample processing compared to the PCR-RFLP method, eliminates the use of toxic reagents, reduces the risk of contamination in the laboratory, and enables full process automation.

Os 600 transplantes renais do Hospital das Clínicas da Faculdade de Medicina de Botucatu (HC da FMB) - UNESP: Mudanças ao longo do tempo

Introdução: Os resultados alcançados pelos transplantes renais nas últimas décadas têm melhorado progressivamente. Objetivo: A fim de determinar a extensão desse progresso, conduzimos uma análise dos resultados obtidos em nosso programa de transplantes através de três períodos diferentes. Métodos: Avaliamos os 600 transplantes renais realizados no HC FMB-UNESP até dezembro de 2011, subdividindo-os em três eras, de acordo com a imunossupressão vigente. Era 1: de 1987 a 2000 (n = 180); associação de ciclosporina e azatioprina. Era 2: de 2001 a 2006 (n = 120); associação de ciclosporina e micofenolato e Era 3: de 2007 a 2011 (n = 300); associação de tacrolimus e micofenolato. Resultados: Os resultados mostram aumento da idade média do receptor, da prevalência de diabetes e do número de transplantes com doador falecido (60%) na terceira era. O uso de terapia de indução foi de 75% era atual contra 46,6% (Era 2) e 3,9% (Era 1), p < 0,0001. Os dados de sobrevida geral por tipo de doador mostram dados semelhantes à literatura. Houve progressivo aumento da sobrevida do enxerto com doadores falecidos em 5 anos, saindo de 13,7% (Era 1) para 81,9% (Era 3). Conclusão: Houve significativas diferenças ao longo do tempo, culminando com aumento do volume de transplantes na atual era (média de 14 transplantes/ano na Era 1 para 75 transplantes/ano na Era 3). Inverteu-se o perfil de transplantes na era atual com predomínio de doador falecido. A melhor sobrevida com doador falecido da atual era foi atribuída a maior experiência do centro e aos esquemas de imunossupressão baseados na combinação de tacrolimus com micofenolato associados a esquema de indução.

1.° Codicis Theodosiani libri sexdecim ; sed ubi solas interpretationes, quae Breviario Aniani ab anonymo insertae sunt, reperias : praemittitur excerptum ex libro quinto etymologiarum Isidori. — 2.° Theodosii Junioris, Valentiniani III. Martiani, Majoriani et Severi novellae constitutiones. — 3.° Gaii Institutionum epitome. — 4.° Julii Pauli sententiarum libri quinque ; sed et hîc solae interpretationes Breviarii Aniani

Puteanus

1.° Codicis Theodosiani libri sexdecim ; et hîc solae interpretationes. — 2.° Theodosii Junioris, Valentiniani III. Marciani, Majoriani et Severi novellae constitutiones. — 3.° Gaii Institutionum epitome. — 4.° Julii Pauli sententiarum libri quinque, cum interpretationibus. — 5.° Excerpta ex Codicibus Gregoriano, Hermogeniano et Papianeo

Bigotianus

1.° Codicis Theodosiani libri sexdecim ; et hîc solae interpretationes. — 2.° Theodosii Junioris, Valentiniani III. Marciani, Majoriani et Severi novellae constitutiones. — 3.° Gaii Institutionum epitome : finis desideratur. — 4.° Julii Pauli sententiarum libri quinque, cum interpretationibus. — 5.° Excerpta ex Codicibus Gregoriano, Hermogeniano et Papianeo. — 6.° Excerpta ex libro quinto etymologiarum Isidori. — 7.° Canones secundi et tertii concilii Aurelianensis. — 8.° Fragmentum concilii Chalcedonensis, de Libertorum ordinationibus. — 9.° Fragmenta legum. — 10.° Edictum Imperatorum Marciani et Valentiniani III. de confirmatione concilii Chalcedonensis

Bigotianus

1.° Codicis Theodosiani libri quatuordecim posteriores ; et hîc solae interpretationes. — 2.° Theodosii Junioris, Valentiniani III. Martiani, Majoriani et Severi novellae constitutiones. — 3.° Gaii Institutionum epitome. — 4.° Julii Pauli sententiarum libri quinque, sed foliorum ordine turbato accedunt interpretationes. — 5.° Excerpta ex Codicibus Gregoriano, Hermogeniano et Papianeo. — 6.° Excerptum ex libro quinto Isidori etymologiarum

Colbertinus

Compañía de las Hijas de la Caridad -HC-.

La orden de la Compañía de las Hijas de la Caridad se funda en París en el siglo XVII por Vicente de Paúl y Luisa de Marillac. Ambos dedican sus vidas al servicio a los pobres. La compañía comienza su andadura con la creación de las cofradías de la caridad formadas por damas de la nobleza. Transcurrido un tiempo, se cuenta con la colaboración de mujeres de los pueblos cercanos aleccionadas por Luisa de Marillac. Estas mujeres, al no ser miembros de ninguna congregación, no están sujetas a la clausura y tienen la movilidad suficiente para realizar el trabajo fuera de los conventos. Su labor principal se dirige a instruir a los pobres, sobre todo a los niños, aunque también se dedican a la formación de formadores. Los valores en los que sentaron las bases de su educación siguen hoy vigentes en la formación que se imparte desde esta congregación. Adjunta una ficha con los datos y direcciones de la congregación.

Classificação prognóstica dos pacientes aidéticos do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo : (HC-FMUSP) no período de 1988- 1990

A literatura mundial sobre a Síndrome da Imunodeficiência Adquirida e condições relacionadas à infecção pelo HIV é abundante, mas o mesmo não acontece na literatura médica nacional, embora o Brasil detenha a quarta posição do mundo em número de casos. Fatores prognósticos da doença ainda não foram estabelecidos, conhecendo-se pouco sobre a sobrevida dos pacientes acometidos pela síndrome, especialmente em nosso meio. Foram estudados 312 pacientes aidéticos atendidos no Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP) de novembro de 1988 a dezembro de 1990. Os casos foram notificados à Secretaria de Saúde do Estado, e os dados introduzidos em uma base de dados computadorizada. Após análise discriminante entre o grupo dos pacientes que obituaram no período e o que se manteve vivo neste intervalo, definiram-se os preditores de óbito para os casos estudados. Tais preditores incluíram, entre outros: tempo decorrido a partir das primeiras manifestações da doença, sexo, idade do paciente, número e tipo de infecções por fungos. A análise de sobrevida pelo método atuarial mostrou uma sobrevi da no primeiro ano de observação de 65,6% e no segundo ano de 54,7% para o total dos pacientes. As curvas de sobrevida de pacientes acometidos por infecções por fungos, mulheres e maiores de 40 anos sugeriram uma menor sobrevida nesses pacientes, confirmando os resultados da análise discriminante. Porém, o teste de Cox indicou uma significância menor que 0,05 quando da comparação entre os grupos

Análise estatística das emissões de CO e HC produzidas por gases da exaustão veicular oriundos de gasolina, GNV e mistura álcool/gasolina

The vehicles are the main mobile sources of carbon monoxide (CO) and unburned hydrocarbons (HC) released into the atmosphere. In the last years the increment of the fleet of vehicles in the municipal district of Natal-RN it is contributing to the increase of the emissions of those pollutants. The study consisted of a statistical analysis of the emissions of CO and HC of a composed sample for 384 vehicles with mechanization Gasoline/CNG or Alcohol/Gasoline/CNG of the municipal district of Natal-RN. The tests were accomplished in vehicles submitted to Vehicular Safety's Inspection, in the facilities of INSPETRANS, Organism of Vehicular Inspection. An partial gases analyzer allowed to measure, for each vehicle, the levels of CO and HC in two conditions of rotation of the motor (900 and 2500 rpm). The statistical analysis accomplished through the STATISTICA software revealed a sensitive reduction in the efficiency of the converters catalytic after 6 years of use with emission average it is of 0,78% of CO and 156 (ppm) of HC, Which represents approximately 4 (four) times the amount of CO and the double of HC in comparison with the newest vehicles. The result of a Student s t-test, suggests strongly that the average of the emissions of HC (152 ppm), at 900 rpm, is 40% larger than at 2500 rpm, for the motor without load. This result reveals that the efficiency of the catalytic conversion is limited kinetically in low engine speeds. The Study also ends that when comparing the emissions of CO and HC considering the influence of the fuels, it was verified that although the emissions of CO starting from CNG are 62% smaller than arising from the gasoline, there are not significant differences among the emissions of HC originating from of CNG and of the gasoline. In synthesis, the results place the current criteria of vehicular inspection, for exhaust gases, in doubt, leading the creation of emission limits of pollutant more rigorous, because the efficiency of the converters catalytic is sensibly reduced starting from 6 years of use. It is also raised the possibility of modifications in the test conditions adopted by the current norms, specifically in the speed engine, have seen that in the condition without load the largest emission indexes were registered in slow march. That fact that allows to suggest the dismissal of the tests in high speed engine, reducing the time of inspection in half and generating economy of fuel

Perfil demográfico e de morbidade da população idosa atendida nas dependências do pronto-socorro, ambulatórios e enfermarias no HC-Unesp em 1997

Being our objective to characterize demographic and morbidity patterns of the 60 years old or more attended at the UNESP Clinic Hospital in 1997 a sample consisting of 482 handbooks has been analyzed in order to evaluate ambulatory attendance, other consisting of 101 handbooks to evaluate first aid clinic demand and statistics from Medical Informatic Center (Centro de Informática da Medicina - CIMED) refering to 2652 internments of such populations this year. Ten and a half per cent from the total of first aid clinic attended patients refers to this old people and the majority (57,4%) lives in Botucatu County. More frequently diagnoses during consultation are Chronic Obstructive Lung Disease (10.1%), Congestive Cardiac Disease (4.7%), Asthma and Cataract (3.1 % for both). Such population is also referred to be 19.8% from the number of all patients attended at the UNESP ambulatories, 65.8% coming from other city in São Paulo State, being in average 69.6 years old and attending 4.5 consultations in average by year. More frequently found diagnoses referred to Essential Primary Hypertension (4.2%), Prostatic Nodular Hyperplasia (4.0%) and Nonspecified Cataract (3.3%). Regarding to internments, they referred to be 18.4% from the number of all interned patients. More frequent diagnoses at internmemt referred to Nonspecified Cataract (12%), Glaucoma (3.0%), Prostatic Nodular Hyperplasia (2.4%) and Limbs Arteriosclerosis (2.3%). Results indicates the existence of an tertiary hospital divided into specialties, also attending morbidity that should be in control into levels of primary and secondary attention.