RESUMO
BACKGROUND: Preventive measures remain the best approach to control the spread of hepatitis B virus (HBV) infection. PATIENTS AND METHODS: To evaluate the effectiveness of vaccination against HBV, we conducted a 20-year retrospective study on 100 subjects, born to hepatitis B surface antigen (HBsAg)-positive mothers, who had received postexposure prophylaxis at the Clinic of Infectious Diseases (Siena University, Italy) during 1984-2004. All patients were tested for the presence of HBsAg, anti-HBs and anti-HB core antigen (anti-HBc). RESULTS: Two subjects (2%) acquired the infection as shown by the presence of anti-HBc. Of the 98 patients who did not acquire the infection, 62 of these (63.3%) had an anti-HBs concentration considered protective (> or =10 mIU/ml). The percentage of protected subjects decreased in relation to time from vaccination with a significant reduction (p = 0.009) of anti-HBs geometric mean titre (GMT) after 5 years, which reached the level of 10 mIU/ml after about 15 years. No patients without protective concentration have acquired the infection as of today. Only 12% of the HBsAg-positive mothers were followed in specialized structures after pregnancy, reflecting the scarce knowledge of the problem in the general population. CONCLUSION: Our data, while confirming the effectiveness of anti hepatitis B vaccination, highlight the need for postvaccination follow-up, particularly in high-risk categories, to prolong protection, through booster doses if necessary. We show, moreover, the importance of maintaining active surveillance in the territory to improve follow-up to chronic carriers and to sensitize families.
Assuntos
Anticorpos Anti-Hepatite B/sangue , Antígenos de Superfície da Hepatite B/sangue , Vacinas contra Hepatite B/imunologia , Hepatite B/imunologia , Hepatite B/prevenção & controle , Complicações Infecciosas na Gravidez , Adolescente , Criança , Feminino , Humanos , Recém-Nascido , Itália , Masculino , Gravidez , Estudos Retrospectivos , Adulto JovemRESUMO
In the recent years, percutaneous vertebroplasty is available for the treatment of the vertebral fractures, primarily to relieve pain related to the lesion. In order to evaluate the efficacy and the safety of this technique, we have treated with percutaneous vertebroplasty, using polymethylmethacrylate, 22 patients, affected by one or more vertebral fractures caused by osteoporosis. All the patients satisfied the inclusion criteria of the American College of Radiology for percutaneous vertebroplasty. These patients were compared with a control group of 23 not treated subjects with vertebral fractures, using questionnaires for assessment of pain and quality of life, drug intake, use of corset, and tolerability of the surgery. In the large majority of patients, the treatment of osteoporotic vertebral fractures with percutaneous vertebroplasty resulted in a prompt, marked and sustained relief of vertebral pain with a persistent improvement of quality of life.
Assuntos
Cimentos Ósseos/uso terapêutico , Vértebras Lombares/lesões , Osteoporose/complicações , Ácidos Polimetacrílicos/uso terapêutico , Fraturas da Coluna Vertebral/terapia , Vértebras Torácicas/lesões , Idoso , Analgésicos/uso terapêutico , Dor nas Costas/tratamento farmacológico , Dor nas Costas/etiologia , Calcitriol/uso terapêutico , Cálcio/uso terapêutico , Moldes Cirúrgicos , Terapia Combinada , Difosfonatos/uso terapêutico , Feminino , Fraturas Espontâneas/diagnóstico por imagem , Fraturas Espontâneas/etiologia , Fraturas Espontâneas/terapia , Humanos , Injeções Intralesionais , Masculino , Pessoa de Meia-Idade , Osteoporose/tratamento farmacológico , Aceitação pelo Paciente de Cuidados de Saúde , Ácidos Polimetacrílicos/administração & dosagem , Radiografia Intervencionista , Estudos Retrospectivos , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/etiologiaRESUMO
The treatment of bladder cancer with Bacillus of Calmette-Guerin (BCG) immunotherapy can induce the appearance of a reactive disorder. The Authors describe a 55-year-old male patient with bladder cancer treated with endovesical instillation of BCG immunotherapy, followed after the fifth application by asymmetric oligoarthritis and dactilitis. The observed positivity of both HLA-B27 and HLA-B51 antigens reinforces the hypothesis of a reactive form, possibly through "molecular mimicry" mechanism. The discontinuation of BCG instillation along which a therapeutic attempt with NSAD failed to improve the rheumatic manifestation, which completely remitted after a four-month course of oral steroids. No relapses of joint and tendon involvement was observed during the following five-month period. The clinico-pathogenetic implications suggested by this case are discussed.
Assuntos
Anti-Inflamatórios/uso terapêutico , Artrite Reativa/tratamento farmacológico , Artrite Reativa/etiologia , Vacina BCG/efeitos adversos , Carcinoma de Células de Transição/terapia , Imunoterapia Ativa/efeitos adversos , Metilprednisolona/uso terapêutico , Neoplasias da Bexiga Urinária/terapia , Administração Intravesical , Anti-Inflamatórios/administração & dosagem , Vacina BCG/administração & dosagem , Carcinoma de Células de Transição/cirurgia , Terapia Combinada , Seguimentos , Humanos , Masculino , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Indução de Remissão , Fatores de Tempo , Resultado do Tratamento , Neoplasias da Bexiga Urinária/cirurgiaRESUMO
A new hemoglobin variant has been found in a Dutch Caucasian girl and detected also in members of three generations of her family. This variant is characterized by the substitution of an aspartic acid at position 73 (E 17) of the beta-chain with a glycine residue. Hemoglobin Tilburg makes up to 42% of the total hemoglobin in the blood of the proposita, it is stable at the isopropanol test, and not associated with significant hematological abnormalities in heterozygous carriers. The oxygen dissociation curve of the purified variant, carried out at different pH values, shows a definite reduction of the affinity for oxygen and a normal alkaline Bohr effect. Three more hemoglobins with a single amino acid substitution at the same site have been previously described: Hb Korle-Bu (Asp----Asn), Hb Mobile (Asp----Val) and Hb Vancouver (Asp----Tyr). In all these proteins the affinity for oxygen is lowered to an extent which is variable and characteristic of each mutant. In this paper we discuss the possible mechanism responsible for the abnormal behaviour of hemoglobins substituted at beta 73.
Assuntos
Hemoglobinas Anormais , Aminoácidos/análise , Criança , Feminino , Globinas , Humanos , Oxigênio/sangue , Oxiemoglobinas , Mapeamento de PeptídeosRESUMO
Only one type of alpha chain has been described so far in the hemoglobins of adult domestic sheep. A variant (Hb D) of the alpha chain, characterized by a substitution glycine leads to aspartic acid at position 15, has been described in Yugoslavian sheep. In this paper we report the identification of a second alpha chain (alpha 2), observed in several sheep when the globin was analyzed by CM-cellulose chromatography or the total hemolysate submitted to isoelectric focusing. The ratio of this chain to the usual one (alpha 1) in the globin of different animals is equal to either 1 : 2 or 1 : 4. The structural difference between alpha 1 and alpha 2 chains consists in the replacement of a leucine residue by an histidine in the position 113 or 114 of the polypeptide chain. Preliminary data on the frequency of the alpha 2 chain in eight domestic breeds indicate that this chain is fairly common, being present in 15 out of 40 animals examined. The results of breeding experiments between sheep of an appropriate alpha chain phenotype suggest the possibility of a duplication of the hemoglobin alpha locus in the Ovinae.
Assuntos
Amplificação de Genes , Hemoglobinas/genética , Ovinos/sangue , Sequência de Aminoácidos , Animais , Frequência do Gene , Modelos GenéticosRESUMO
The occurrence of point mutation alpha-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of severe phenotypes is bound to increase in the near future because of the endogamous growth of the ethnical minorities and the lack of prevention. We describe an Afghan family in which both partners of a consanguineous relationship are carriers of a beta- as well as an alpha-thalassaemia determinant. The combination of defects was revealed by the in vitro measurement of the beta/alpha biosynthetic ratio and was characterised at the DNA level. The molecular defects involved are the Cd5(-CT), a Mediterranean beta zero-thalassaemia mutation, and the alpha 2(zero/+)-thalassaemia AATA(-AA) polyadenylation defect. The alpha-thalassemia defect is a rare RNA-processing mutant described only twice before in heterozygous form in Asian-Indian patients. The mutation suppresses the expression of a alpha 2 gene and reduces the expression of the less efficient, 3' located alpha 1 gene as well, inducing a near alpha zero-thalassaemia phenotype. This defect is now described for the first time in the homozygous condition in one of the children who, in addition to being homozygous for the alpha-thalassaemia point mutation, is also a carrier of the beta zero-thalassaemia defect. A previously described homozygous case of the alpha (zero/+)-thalassaemia condition, caused by a similar polyadenylation defect, was characterised by a severe HbH disease. However, the patient described here present at 7 years of age with severe caries, like his beta-thalassaemia homozygous brother but without hepatosplenomegaly, haemolysis or severe anaemia. The haematological analysis revealed 9.5 g/dl Hb; 5.4 x 10(12)/I RBC; 0.33 I/I PCV; 61 fl MCV; 17.6 pg MCH and 6.2% of HbA2. The biosynthetic ratio beta:alpha was 1.6 and no HbH fraction was detectable either on electrophoresis or as inclusion bodies. The parents reported no complications during pregnancy, at birth, or in the neonatal period in rural Afghanistan. We presume therefore that the counterbalancing effect induced by the co-existing beta-thalassaemia defect could have modified a potentially severe perinatal HbH disease into a strongly hypochromic but well compensated 'alpha zero-like heterozygous' thalassaemia phenotype. The risk of a severe HbH disease, could have been easily missed in this family which was referred because of a child affected with beta-thalassaemia major.
Assuntos
Talassemia alfa/genética , Talassemia beta/genética , Feminino , Hematologia , Humanos , Masculino , LinhagemRESUMO
A system proposed for measurement of mutational risk consists in detection of hemoglobin mutations expressed in erythrocytes. For this detection the production of antibodies specific for Hb variants is essential. Recently we reported a sensitive solid-phase EIA for the production and selection of polyclonal and monoclonal antibodies specific for hemoglobin determinants. An important characteristic of this EIA was the coating of water-insoluble proteins to polystyrene microtiter plates. Here we report that with this system, insoluble protein fragments and small peptides may also be covalently coated to a polystyrene surface. Coating is independent of the length of the peptides. This allows direct, non-competitive titration of the antibody response to small peptides and avoids the drawbacks of competitive assay.
Assuntos
Hemoglobinas/genética , Mutação , Peptídeos/genética , Animais , Ligação Competitiva , Brometo de Cianogênio/farmacologia , Globinas/genética , Hemoglobina A/genética , Técnicas Imunoenzimáticas , Camundongos , Camundongos Endogâmicos BALB C , Coelhos , Soroalbumina BovinaRESUMO
A solid-phase enzyme immunoassay for the detection of antibodies, specific for hemoglobin (Hb) is described. The application of glutaraldehyde resulted in a sensitive assay and allowed the use of urea, which is an important advantage if polypeptides not soluble in aqueous buffers are to be used. Mutation-carrying Hb chains can be purified, solubilized in urea and used in the immunoassay to monitor the purification and selection of antibodies specific for these variants. Specific antibodies are the main tools for the development of a hemoglobin-locus mutation system for detection of potentially mutagenic environmental agents. With erythrocytes as target cells, this system permits in vivo monitoring of subjects under exposure. Conventional antibody production, however, frequently turns out to be unsuccessful. The production of monoclonal antibodies has several advantages over conventional antibody production, but a sensitive antibody screening system is essential. Because of the sensitivity and the ease with which a large panel of antibody fractions against a vast panel of Hb antigens can be examined, the described immunoassay has potential value for the screening of hybridoma cultures.
Assuntos
Epitopos/análise , Hemoglobinas/imunologia , Isoanticorpos/análise , Mutação , Adulto , Animais , Líquido Ascítico/análise , Líquido Ascítico/imunologia , Sítios de Ligação de Anticorpos , Imunofluorescência , Glutaral/farmacologia , Hemoglobinas/genética , Humanos , Soros Imunes/análise , Técnicas Imunoenzimáticas , Camundongos , Preservação Biológica , Coelhos , Ureia/farmacologiaRESUMO
In the present article we report the purification and the amino acid sequence of two antibacterial peptides present in the secretion of the female reproductive accessory glands of the dipteran insect Ceratitis capitata. Both peptides consist of 29 amino acid residues, are heat stable, strongly basic and differ from each other for the substitution of two amino acids. Their primary sequence and predicted secondary structure are related to other families of peptides known to have lytic and/or antibacterial activity. We propose the name ceratotoxins (from Ceratitis) for these antibacterial peptides.
Assuntos
Anti-Infecciosos/química , Dípteros/química , Hormônios de Inseto/química , Proteínas de Insetos , Sequência de Aminoácidos , Animais , Anti-Infecciosos/isolamento & purificação , Cromatografia Líquida de Alta Pressão , Feminino , Genitália Feminina/química , Hemólise , Temperatura Alta , Humanos , Testes de Sensibilidade Microbiana , Dados de Sequência Molecular , Estrutura Secundária de Proteína , ReproduçãoRESUMO
Linkage studies were undertaken in 120 individuals from 10 kindreds with autosomal dominant facioscapulohumeral muscular dystrophy using 35 different marker genes. No linkage was found. The highest lod score was 1.438 for the immunoglobulin heavy chain gene cluster (IGH) at a recombination fraction of 0.2. IGH is located on the long arm of chromosome 14. Based on scores of other marker genes and on a recombination map of chromosome 14, the probability that the gene for facioscapulohumeral muscular dystrophy is located on chromosome 14 is estimated to be approximately 6%.
Assuntos
Aberrações Cromossômicas/genética , Genes Dominantes , Ligação Genética , Distrofias Musculares/genética , Adolescente , Adulto , Transtornos Cromossômicos , Mapeamento Cromossômico , Músculos Faciais , Triagem de Portadores Genéticos , Marcadores Genéticos , Humanos , Recombinação Genética , OmbroRESUMO
A clinical case of idiopathic hypereosinophilic syndrome mimicking seronegative rheumatoid arthritis with a twenty year follow-up is reported. The patient showed other sign of the disease, such as pericarditis, gastroenteritis and hepatomegaly. Among the laboratory findings the elevated levels of aldolase and LDH 2, never reported previously, are stressed.
Assuntos
Artrite Reumatoide/diagnóstico , Eosinofilia/diagnóstico , Artrite Reumatoide/enzimologia , Artrite Reumatoide/epidemiologia , Diagnóstico Diferencial , Eosinofilia/enzimologia , Eosinofilia/epidemiologia , Seguimentos , Frutose-Bifosfato Aldolase/sangue , Humanos , L-Lactato Desidrogenase/sangue , Masculino , Pessoa de Meia-Idade , Síndrome , Fatores de TempoRESUMO
In pancreatic neoplasias mutations in the first exon (codon 12) of K-ras gene occur at high frequency and seem to have a diagnostic significance. We set up the DGGE conditions to search for these mutations in pancreatic tumor sample DNAs. All samples were directly classified by simply comparing their DGGE patterns with those of control cell lines carrying known K-ras base substitutions. We found a mutation frequency of 73% in pancreatic adenocarcinoma, whereas no mutations were observed in benign lesions. The non-isotopic method we used turned out to be rapid and sensitive. DGGE could therefore be utilized for the detection of K-ras mutations in pancreatic lesions, to evaluate their actual or potential malignancy. In general, DGGE could be useful for K-ras gene screening on pathological tissue samples.
Assuntos
Adenocarcinoma/genética , Cistadenoma/genética , Genes ras , Mutação , Neoplasias Pancreáticas/genética , Adenocarcinoma/cirurgia , Sequência de Bases , Linhagem Celular , Códon , Cistadenoma/cirurgia , DNA de Neoplasias/genética , DNA de Neoplasias/isolamento & purificação , Humanos , Dados de Sequência Molecular , Oligodesoxirribonucleotídeos , Pancreatopatias/genética , Pancreatopatias/patologia , Neoplasias Pancreáticas/cirurgia , Reação em Cadeia da Polimerase , Células Tumorais CultivadasRESUMO
Calcium channel blockers have been used in the treatment of primary and secondary Raynaud's phenomenon (RP), and a beneficial effect was often recorded. The efficacy of slow-releasing nicardipine was assessed in a clinically homogeneous series of RP without underlying diseases in a randomized, double blind, cross-over and placebo controlled trial. Out of twenty-one selected patients (18 women and 3 men, mean age 46 +/- 12 yrs) eighteen completed the study and three dropped out, one for inadequate compliance and two due to headache. After a three-week period, slow-releasing nicardipine (20 mg two times daily) was significantly more useful than placebo: the number of RP episodes per week decreased (p less than 0.02), severity of discomfort and hand disability scores, evaluated after single RP attack, clearly improved (p less than 0.005 and p less than 0.02, respectively). According to clinical improvement, time of peak flow after postischemic reactive hyperaemia test was significantly reduced only after nicardipine (p less than 0.01). These results show that slow-releasing nicardipine is generally well tolerated and can provide effective improvement in RP patients without underlying diseases.
Assuntos
Nicardipino/uso terapêutico , Doença de Raynaud/tratamento farmacológico , Adulto , Idoso , Preparações de Ação Retardada , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nicardipino/administração & dosagem , Nicardipino/efeitos adversos , Dor/complicações , Doença de Raynaud/complicações , Índice de Gravidade de DoençaRESUMO
Systemic sclerosis sine scleroderma can present in some patients as pulmonary interstitial fibrosis. Until now ten cases with this particular clinical variant, all men, have been reported in the literature. The knowledge of systemic sclerosis sine scleroderma presenting as lung interstitial involvement is important in clinical practice for an early diagnosis and correct therapeutic strategy. This work reports the clinico-serological features of two further cases, one a woman, of systemic sclerosis sine scleroderma with prevalent lung involvement, and describes the effects of therapeutic plasma exchange.
Assuntos
Troca Plasmática , Fibrose Pulmonar/terapia , Escleroderma Sistêmico/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibrose Pulmonar/etiologia , Escleroderma Sistêmico/complicaçõesRESUMO
In the present report a method for the practical noise measurement in the factory environment is developed. The acoustic noise present is normally composed of the noise emitted from several machines more or less simultaneously and the measurement problem often consists in determining an average noise level that is then compared with some accepted noise criteria and on the basis of this comparison decisions may be taken as to necessary changes in the environment. The method extends the dynamic referred to as "impulse" use, that is a characteristic meter response which closely approaches the rise time of the human ear and stores, averages and forgets the short duration signal in a way similar to that of the human brain. The measured average noise level gives a better explanation of the audiometrically detectable occupation noise-induced hearing loss.
Assuntos
Ruído/efeitos adversos , Estimulação Acústica , Exposição Ambiental , Perda Auditiva Provocada por Ruído/prevenção & controle , Humanos , Indústrias , Itália , Concentração Máxima PermitidaRESUMO
The presence or absence of Rhesus D, c and Kell antigens on foetal red blood cells was determined in the first trimester of pregnancy on erythrocytes obtained by chorionic villi sampling. Pregnancies in 15 severely sensitized women (9 Rh D, 5 Kell and I Rh c) with a poor obstetric history and a partner heterozygous for the offending antigen were examined. A conclusive diagnosis could be made in 13 of the 15 cases studied.
Assuntos
Antígenos de Grupos Sanguíneos/imunologia , Amostra da Vilosidade Coriônica , Eritrócitos/análise , Feminino , Humanos , Isoanticorpos/análise , Sistema do Grupo Sanguíneo de Kell/imunologia , Gravidez , Primeiro Trimestre da Gravidez , Sistema do Grupo Sanguíneo Rh-Hr/imunologiaRESUMO
In a Chinese family living in The Netherlands alpha 0- and beta-thalassaemia occur singly and in combined form. All members of the family are moderately anaemic and show the characteristic haematological abnormalities of thalassaemia carriers. The nature of the alpha 0-thalassaemia defect was shown at the molecular level to be a deletion of the South East Asian type, which removes about 20 kb of DNA spanning both alpha genes in cis. The chromosome carrying the beta-thalassaemia mutation was identified using RFLPs (restriction enzyme fragment length polymorphisms). The combined heterozygosity for alpha 0- and beta-thalassaemia results in a phenotype virtually indistinguishable from heterozygous beta-thalassaemia, except for the almost balanced globin chain synthesis.
Assuntos
Talassemia/genética , Adolescente , Adulto , Criança , China/etnologia , DNA/análise , Feminino , Triagem de Portadores Genéticos , Técnicas Genéticas , Humanos , Masculino , Países Baixos , Hibridização de Ácido Nucleico , LinhagemRESUMO
Ten newborn infants, all belonging to one family, suffered from severe hemolytic anemia. Four babies died shortly before or after birth, six recovered (one spontaneously, 5 after one or more exchange transfusions). In 5 out of 8 patients a mixed hyperbilirubinemia was observed in the immediate postnatal period, with elevated levels of indirect- as well as direct-reacting bilirubin. After the neonatal period, a slight hypochromic, microcytic anemia persisted, without icterus but with decreased osmotic fragility of the erytrocytes and with target cells in the blood smear. The same hematological picture was observed in one of the parents of each affected baby. All anemic adults belong to one large family; therefore, a dominant mode of inheritance is most likely. Although the hematological findings are suggestive for beta-thalassemia normal HbF and HbA2 levels were observed. In vitro incorporation of radioactive leucine into globin chains in reticulocytes demonstrated defective synthesis of beta chains in the affected adults; in two affected infants the same technique showed defective gamma-chain synthesis as well. Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta-beta-thalassemia, as originally described by Kan et al. (1972).