RESUMO
BACKGROUND: AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of individuals with this deficiency to both lung and liver disease as well as other several adverse health effects. Studies to develop accurate estimates of the magnitude of this genetic disorder in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. In the present study, estimates of the prevalence of the two major deficiency alleles PI S and PI Z were estimated for 25 countries in the Caribbean and North, Central, and South America to supplement our previous studies on 69 countries worldwide. METHOD: Using data on the prevalence of the two most common deficiency alleles PI S and PIZ in the mother countries that provided the majority of immigrants to these 25 countries, as well as genetic epidemiological studies on various genetic subgroups indigenous to the Caribbean and North, Central and South America it was possible to develop new formulas to estimate the numbers in each of five phenotypic classes, namely PI MS, PI MZ, PI SS, PI SZ and PI ZZ for each country. RESULTS: When these 25 countries were grouped into six different geographic regions, the present study demonstrated striking differences when comparisons were made in numeric tables, maps and figures. Highly significant numbers of individuals at risk for AAT Deficiency were found in both the European, Mestizo and Mulatto populations for most of the 25 countries studied in the Caribbean and North, Central and South America. CONCLUSIONS: Our studies demonstrated striking differences in the prevalence of both the PIS and PIZ alleles among these 25 countries in the Caribbean and North, Central and South America and significant numbers of individuals at risk for adverse health effects associated with AAT Deficiency in a given country. When these data are added to the results from our earlier studies on 69 countries, we now have data on AAT Deficiency in 94 of the 193 countries worldwide listed in the CIA FactBook.
Assuntos
Alelos , Epidemiologia Molecular , Fenótipo , Deficiência de alfa 1-Antitripsina/genética , Região do Caribe/epidemiologia , América Central/epidemiologia , Humanos , América do Norte/epidemiologia , Prevalência , América do Sul/epidemiologia , alfa 1-Antitripsina , Deficiência de alfa 1-Antitripsina/epidemiologiaRESUMO
BACKGROUND: The treatment of multidrug-resistant Acinetobacter baumannii meningitis is a serious therapeutic problem due to the limited penetration of antibiotics into the CSF. We describe the clinical features and the outcome of a group of patients with nosocomial neurosurgical meningitis treated with different therapeutic options. METHODS: All patients with nosocomial post-surgical meningitis due to A. baumannii diagnosed between 1990 and 2004 were retrospectively reviewed. RESULTS: During the period of study, 51 cases of this nosocomial infection were identified. Twenty-seven patients were treated with intravenous (iv) monotherapy: carbapenems (21 cases), ampicillin/sulbactam (4 cases) and other antibiotics (2 cases). Four patients were treated with iv combination therapy. Nineteen patients were treated with iv and intrathecal regimens: colistin by both routes (8 cases), carbapenems plus iv and intrathecal (4 cases) or only intrathecal (5 cases) aminoglycosides, and others (2 cases). Seventeen patients died due to the infection. One patient died without treatment. The mean (SD) duration of therapy was 17.4 (8.3) days (range 3-44). Although no patients treated with colistin died, we did not observe statistically significant differences in the mortality among the groups with different treatments. CONCLUSIONS: Nosocomial Acinetobacter meningitis has a high mortality. Combined therapy with iv and intrathecal colistin is a useful and safe option in the treatment of nosocomial Acinetobacter meningitis.
Assuntos
Infecções por Acinetobacter/microbiologia , Acinetobacter baumannii/efeitos dos fármacos , Derivações do Líquido Cefalorraquidiano , Infecção Hospitalar/microbiologia , Farmacorresistência Bacteriana Múltipla , Meningite/microbiologia , Infecções por Acinetobacter/tratamento farmacológico , Infecções por Acinetobacter/mortalidade , Acinetobacter baumannii/isolamento & purificação , Adolescente , Adulto , Idoso , Antibacterianos/uso terapêutico , Líquido Cefalorraquidiano/microbiologia , Infecção Hospitalar/tratamento farmacológico , Infecção Hospitalar/mortalidade , Feminino , Humanos , Masculino , Meningite/tratamento farmacológico , Meningite/mortalidade , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Resultado do TratamentoRESUMO
A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she was under a strong antiasthmatic treatment. Given her declining health status and the significant chronic corticoid administration-related side-effects (including high reduction of muscle mass and bone density), a clinical trial with commercial intravenous AAT was proposed by the patient's doctors, and accepted by the Spanish Ministry of Health, although it this therapy was not approved for MZ phenotypes yet. This new therapy quickly stopped lung function decline rate, dramatically reduced the number of hospital admissions of the patient, suppressed the oral administration of prednisone, reversed the corticosteroid-related health adverse effects, significantly improving her quality of life. Thus, although AAT replacement therapy is not approved nor indicated for the treatment of bronchial asthma in MZ patients, its favourable effects observed in this isolated case support the hypothesis that bronchial asthma could be due to pathogenic mechanisms related to a protease-antiprotease imbalance, what which could open new perspectives for future research on the field.
Assuntos
Asma/complicações , Inibidores da Tripsina/administração & dosagem , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/tratamento farmacológico , alfa 1-Antitripsina/administração & dosagem , Adulto , Asma/fisiopatologia , Feminino , Humanos , Infusões Intravenosas , Indução de Remissão , Deficiência de alfa 1-Antitripsina/fisiopatologiaRESUMO
BACKGROUND: AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, information on accurate estimates of the magnitude of alpha-1 antitrypsin deficiency in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. METHOD: Genetic epidemiological studies for alpha-1 antitrypsin deficiency made by others have been used to determine the percentages and estimates of the numbers in each of the five phenotypic classes (PI MS, PI MZ, PI SS, PI SZ, and PI ZZ) of the most common deficiency alleles: PI S and PI Z in each of 69 countries worldwide and also when grouped into 13 major geographic regions. RESULTS: Our studies have demonstrated striking differences between these estimates when comparisons were made in numeric tables, maps and figures. CONCLUSIONS: Our studies demonstrated striking differences in the prevalences of both the PIS and PIZ alleles among these 69 countries and the numbers at risk for AAT Deficiency in a given country in specific geographic regions. Data on the prevalence of the two major deficiency alleles as well as the numbers in those phenotypic classes known to be at risk for AAT Deficiency is considered critical for the identification of individuals at risk for adverse health effects associated with AAT Deficiency as well as the treatment and management of those individuals identified in a given country.
Assuntos
Frequência do Gene , Deficiência de alfa 1-Antitripsina/epidemiologia , Saúde Global , Humanos , Fenótipo , Prevalência , Deficiência de alfa 1-Antitripsina/genéticaRESUMO
BACKGROUND: Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1 antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary diseases in the world, but its prevalence varies markedly from one country to another. AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIS and PIZ. This genetic disease is known to exist in Italy and is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. METHODS: Studies on the genetic epidemiology of AAT Deficiency has resulted in the development of a unique database that permits a unique analysis of the geographic distribution in 14 different regions located at random from Piemonte to Sicilia. RESULTS: The use of Hardy-Weinberg statistical analysis to evaluate the distribution of these two deficiency alleles has demonstrated striking differences in the frequencies of these two deficiency alleles in these 14 different regions with 23/84 pair wise combinations significantly different (P=0.05) for PIS, and 5/84 combinations for PIZ. CONCLUSIONS: These findings demonstrate differences that impact the standards of care and diagnosis of AAT Deficiency in Italy since the prevalence of these deficiency alleles is not uniform throughout the country.
Assuntos
CDP-Diacilglicerol-Inositol 3-Fosfatidiltransferase/genética , Frequência do Gene/genética , Proteínas de Membrana/genética , Deficiência de alfa 1-Antitripsina/epidemiologia , alfa 1-Antitripsina/genética , Alelos , Estudos de Coortes , Humanos , Itália/epidemiologia , Prevalência , Deficiência de alfa 1-Antitripsina/genéticaRESUMO
The first well-documented case of recurrent type III membranoproliferative glomerulonephritis after kidney transplantation is reported in this article. A 48-year-old man was admitted to the hospital because of nephrotic syndrome and moderate renal failure. The renal biopsy showed double-contour images at light microscopy. Electron microscopy revealed electron-dense deposits in the mesangium and in both the subepithelial and subendothelial sides of the basement membrane. Subepithelial deposits were sometimes hump-like and produced an irregular disruption of the lamina densa. A diagnosis of type III membranoproliferative glomerulonephritis was suggested. The patient had a rapid decrease in renal function and received dialysis in 3 months. Three years later, he received a cadaveric kidney transplant, and subsequently recovered normal renal function. Proteinuria appeared after 13 months, and a biopsy of the graft demonstrated recurrence of the original disease. Seven years after transplantation, he returned to hemodialysis.
Assuntos
Glomerulonefrite Membranoproliferativa/etiologia , Transplante de Rim/efeitos adversos , Biópsia , Humanos , Córtex Renal/patologia , Córtex Renal/ultraestrutura , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , RecidivaRESUMO
Cholestatic hepatitis and diffuse liver fibrosis have been described in immunosuppressed patients with hepatitis B virus or hepatitis C virus infection as fibrosing cholestatic hepatitis (FCH). FCH is characterized by cholestasis, with only a modest increase in aminotransferase levels. The pathologic picture typically shows periportal and perisinusoidal fibrosis, scarce mixed infiltrates, hepatocellular ballooning, and histologic cholestasis. We report two patients with diffuse fibrosis and cholestasis quite similar to the histologic picture of FCH, but in whom neither hepatitis B virus nor hepatitis C virus infection could be shown, highlighting the potential contribution of cytomegalovirus infection and azathioprine toxicity in the development of this severe complication of solid-organ transplantation.
Assuntos
Colestase/patologia , Hepatite/patologia , Transplante de Rim/efeitos adversos , Cirrose Hepática/patologia , Adulto , Azatioprina/administração & dosagem , Colestase/complicações , Colestase/virologia , Evolução Fatal , Hepatite/complicações , Hepatite/virologia , Humanos , Hospedeiro Imunocomprometido , Imunossupressores/administração & dosagem , Cirrose Hepática/complicações , Cirrose Hepática/virologia , Masculino , SíndromeRESUMO
We report a patient who acquired hepatitis C virus (HCV) infection at cardiac transplantation, developing fibrosing cholestatic hepatitis (FCH) with early liver failure and a fatal outcome. FCH is a recently described clinicopathological entity characterized by a cholestatic pattern of serum liver enzyme abnormalities, a progressive course leading to liver failure, and a pathological picture defined by periportal fibrosis, neutrophilic infiltrates and signs of histological cholestasis. Although it was initially described secondary to hepatitis B virus infection, it has also been recently related to HCV infection. Some histopathological features consistent with azathioprine hepatotoxicity like cholestasis, perisinusoidal fibrosis, veno-subocclusive lesions and nodular regenerative hyperplasia were also observed in this case. Therefore, a direct cytopathic effect of HCV and the concurrent pathogenic role of azathioprine hepatotoxicity may be involved in the development of this complication of transplantation.
Assuntos
Azatioprina/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/patologia , Colestase Intra-Hepática/induzido quimicamente , Transplante de Coração , Hepatite C/patologia , Imunossupressores/efeitos adversos , Cirrose Hepática Biliar/induzido quimicamente , Azatioprina/administração & dosagem , Colestase Intra-Hepática/patologia , Evolução Fatal , Humanos , Hiperplasia , Imunossupressores/administração & dosagem , Fígado/efeitos dos fármacos , Fígado/patologia , Cirrose Hepática Biliar/patologia , Regeneração Hepática/efeitos dos fármacos , Masculino , Pessoa de Meia-Idade , Veia Porta/efeitos dos fármacos , Veia Porta/patologiaRESUMO
OBJECTIVE: To determine the relationship between lipoprotein (a) seric levels with the age of coronary artery disease debut and the severity of coronary lesions in a group of male patients less than 50 years old. PATIENTS AND METHODS: We studied a group of 230 male patients, younger than 50 who were consecutively admitted to the hospital because of an ischemic coronary event. During hospitalization, the lipoprotein (a) in plasma was measured in all patients. They were distributed in two groups according to age at time of coronary disease clinical presentation with a cut off age of 40. A group of 142 patients underwent a cardiac catheterism and coronariography due to clinical or electrical unstability. RESULTS: The lipoprotein (a) levels were related with the number of diseased vessels. In this way lipoprotein (a) levels were 12 mg/dl (1.5-75) in those patients showing a normal coronariography; 27 mg/dl (2. 5-96) in those with one vessel disease; 34 mg/dl (7-90) in those with two vessels affected and 63 mg/dl (2-116) in the case of three-vessel disease, with statistical significance of p = 0.003. No significant differences in lipoprotein (a) levels were found when the age of coronary artery disease presentation was taken into account. In this way lipoprotein (a) levels were 31 mg/dl (2-97) in patients younger than 40 years of age, in comparison to 33 mg/dl (2-94) in those older than 40. CONCLUSIONS: In our community male patients with a diagnosis of coronary artery disease and less than 50 years old showed a relationship between lipoprotein (a) levels and the severity and number of coronary vessel diseases. However, an association between lipoprotein (a) levels with the age of coronary disease presentation was not evident.
Assuntos
Doença das Coronárias/diagnóstico , Lipoproteína(a)/sangue , Adulto , Angiografia Coronária , Doença das Coronárias/sangue , Doença das Coronárias/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos TestesRESUMO
PURPOSE: To clinically evaluate and compare a dentifrice system in a dual-chambered tube, wherein one chamber contained sodium fluoride in a silica base and the other chamber contained dicalcium phosphate dihydrate (Test Dentifrice delivering 0.243% sodium fluoride), to a dentifrice containing 0.243% sodium fluoride in a silica base (Positive Control Dentifrice). MATERIALS AND METHODS: This study was conducted in harmony with the published 1988 American Dental Association guidelines for studies geared toward the comparison of fluoride dentifrices. This 2-yr caries clinical study employed a double-blind, parallel-group design, and involved 5-17 yr-old children from the Central and South areas of Florida and from the Lares area of Puerto Rico. Qualifying subjects were stratified according to age and sex, and were randomly assigned to the two treatment groups, with multiple subjects in the same household all assigned to the dentifrice randomly allocated to the first among them. Caries examinations were conducted in accordance with U.S. Food and Drug Administration guidelines for the clinical evaluation of drugs to prevent dental caries. Two calibrated examiners performed all the measurements. After treatment assignment, study participants were instructed to brush their teeth at home with their assigned dentifrice at least twice daily. Brushing instructions were reinforced by indoctrination in proper oral hygiene techniques by dental professionals, supplemented by pamphlets supplied by the sponsor and yearly mailings to participants, emphasizing good oral hygiene and the need to enforce compliance with the study. Post-baseline examinations were performed after 1 yr of product use, and again after 2 yrs of product use. RESULTS: Two thousand five hundred six (2,506) subjects completed this 2-yr study. For these subjects, the mean caries scores (DMFS, decayed, missing and filled tooth surfaces) at baseline were 2.29 for the Test Dentifrice group, and 2.47 for the Positive Control Dentifrice group. For caries increments after 1 yr, the respective means were 0.69 for the Test Dentifrice group and 0.81 for the Positive Control Dentifrice group. Finally, after 2 yrs, the mean caries increments were 1.25 for the Test Dentifrice group, and 1.46 for the Positive Control Dentifrice group. No statistically significant difference was indicated between the treatment groups at baseline or between the 1-yr caries increment scores. However, there was a statistically significant difference in the 2-yr caries increment scores between the treatment groups. Relative to the Positive Control Dentifrice group, the Test Dentifrice group presented a 14.38% reduction in caries increment scores at 2 yrs. In accordance with the procedures and standards provided by the published guidelines of the American Dental Association for the comparison of the anticaries efficacy of fluoride dentifrices, the results of this study support the conclusion that the dentifrice system in a dual-chambered tube, wherein one chamber contained sodium fluoride in a silica base and the other chamber contained dicalcium phosphate dihydrate, delivering 0.243% sodium fluoride, provided a superior level of anticaries efficacy than did the dentifrice containing 0.243% sodium fluoride in a silica base.
Assuntos
Fosfatos de Cálcio/farmacologia , Cariostáticos/farmacologia , Cárie Dentária/prevenção & controle , Fluoreto de Sódio/farmacologia , Cremes Dentais/uso terapêutico , Adolescente , Análise de Variância , Fosfatos de Cálcio/administração & dosagem , Cariostáticos/administração & dosagem , Criança , Pré-Escolar , Índice CPO , Cárie Dentária/epidemiologia , Método Duplo-Cego , Sistemas de Liberação de Medicamentos , Feminino , Florida/epidemiologia , Humanos , Masculino , Porto Rico/epidemiologia , Fluoreto de Sódio/administração & dosagem , Cremes Dentais/farmacologia , Resultado do TratamentoRESUMO
UNLABELLED: Hepatitis C virus (HCV) genotypes are irregularly distributed among the different geographic area and groups at risk. OBJECTIVE: To study the different HCV genotypes and subtypes of hemodialyzed patients from Alicante. METHODS: We studied 640 patients on haemodialysis (HD) and we determined the RNA-HCV and the genotypes in the 120 patients with antibodies against HCV (HCV-Ab). We compared the results with the genotypes of 1,370 patients from other groups at risk in the same geographic area. RESULTS: RNA-HCV was not found in the serum in 15% (18/120) of the patients on HD who were HCV-Ab positive. Prevalence of the different genotypes in the 102 patients with positive viral RNA was the following: 1b: 56.8% (58/102), 1a: 19.6% (20/102), 3: 17% (17/102), 2a-2c: 1.9 (2/102), 2b: 0.9% (1/102) 4: 2.9 (3/102), 5: 0.9% (1/102). In conclusion, the genotype 1b was the most frequent in the patients studied in all these areas, and was the same as in the rest of the country. This genotype has been associated with the most severe hepatic disease and poor response to treatment, affecting the prognosis of these patients. The most frequent genotypes in HD in Alicante were 1b, 3 and 1a. HCV genotypes distribution among the HD units was not uniform in the different geographic areas. HCV genotypes distribution in the HD population is similar to other groups at risk from the same geographic area.
Assuntos
Hepacivirus/classificação , Hepatite C Crônica/virologia , RNA Viral/isolamento & purificação , Diálise Renal , Adulto , Distribuição por Idade , Idoso , Feminino , Genótipo , Hepacivirus/genética , Hepacivirus/isolamento & purificação , Hepatite C Crônica/complicações , Hepatite C Crônica/epidemiologia , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Prevalência , RNA Viral/sangue , RNA Viral/genética , Diálise Renal/efeitos adversos , Fatores de Risco , Espanha/epidemiologia , Viremia/epidemiologia , Viremia/virologiaAssuntos
Envelhecimento/fisiologia , Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Degeneração Macular/complicações , Neovascularização Patológica/tratamento farmacológico , Neovascularização Patológica/etiologia , Corpo Vítreo , Fatores Etários , Idoso , Inibidores da Angiogênese/administração & dosagem , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais Humanizados , Bevacizumab , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
UNLABELLED: The impact of each episode of peritonitis on long-term survival of peritoneal dialysis (PD) patients has yet to be defined. OBJECTIVES: To determine the risk that each episode of peritonitis poses for patient survival and for the PD technique. PATIENTS: 1515 patients included in the Levante registry from 1 January 1993 to 31 December 2005. METHODS: Retrospective analysis of a multicentre registry using Cox regression for time-dependent variables. RESULTS: We analysed 1609 episodes of peritonitis in 716 patients (47.2%). In the univariate analysis, each case of peritonitis treated in the outpatient unit was associated with an increase in mortality (hazard ratio [HR] 1.99, P<.001), which was greater for episodes that required hospitalisation (HR 3.62, P<.001). Mortality increased with each successive episode in the same patient. Multivariate analysis confirmed the association of each case of peritonitis with lower long-term survival (HR 2.01, P<.001), with a different risk for episodes due to gram-positive and gram-negative bacteria and fungi (HR 1.73, 2.43 and 5.71, respectively; P<.001). Other variables associated with mortality were age, low residual renal function, absence of vascular access and comorbidity. Peritonitis was the only independent variable associated with technique failure (HR 1.29, P<.001), with a different risk for episodes due to gram-positive and gram-negative bacteria and fungi (HR 1.73, 2.43 and 5.71, respectively; P<.001). CONCLUSIONS: Episodes of peritonitis negatively influence long-term survival of patients on PD.
Assuntos
Falência Renal Crônica/terapia , Diálise Peritoneal/efeitos adversos , Peritonite/etiologia , Adulto , Fatores Etários , Idoso , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/etiologia , Comorbidade , Feminino , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/mortalidade , Masculino , Pessoa de Meia-Idade , Micoses/epidemiologia , Micoses/etiologia , Ambulatório Hospitalar , Peritonite/epidemiologia , Peritonite/microbiologia , Prognóstico , Modelos de Riscos Proporcionais , Recidiva , Estudos Retrospectivos , Espanha/epidemiologia , Análise de Sobrevida , Taxa de Sobrevida , Falha de TratamentoRESUMO
The efficacy of carbapenems versus cefotaxime (8g/day)+metronidazole (1.5-2g/day) [combined standard chemotherapy (CSC)] for the treatment of brain abscess was compared. Fifty-nine adult patients with brain abscesses received either imipenem or meropenem (3-4g/day) or CSC for a mean of 5 weeks, in addition to neurosurgery in most cases. Cure was obtained in 84.7% of cases; 42/47 (89.4%) on carbapenems [18/22 (81.8%) on imipenem versus 24/25 (96.0%) on meropenem] and 8/12 (66.7%) on CSC (P=0.06). Seven patients with multiple abscesses were treated with imipenem (1 died; cure rate 85.7%), five with meropenem (all survived; cure rate 100%) and five with CSC (2 died; cure rate 60%) (P<0.4). Neurosurgery was performed in 43/59 cases (72.9%); 17 (77.3%) in the imipenem group, 21 (84.0%) in the meropenem group and 5 (41.7%) in the CSC group (P=0.02). There was no significant difference in the rate of relapse requiring re-intervention. Treatment with meropenem was associated with a lower mortality than CSC (P=0.026). Seizures were observed only with carbapenems [8/22 (36.4%) for imipenem versus 2/25 (8.0%) for meropenem; P=0.03]. Carbapenems were more effective than CSC for treatment of brain abscesses. Because meropenem induced significantly fewer seizures than imipenem with at least the same clinical efficacy, the former appears to be a better choice to treat this infection.
Assuntos
Antibacterianos/efeitos adversos , Antibacterianos/uso terapêutico , Abscesso Encefálico/tratamento farmacológico , Imipenem/efeitos adversos , Imipenem/uso terapêutico , Tienamicinas/efeitos adversos , Tienamicinas/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/administração & dosagem , Abscesso Encefálico/mortalidade , Abscesso Encefálico/cirurgia , Feminino , Humanos , Imipenem/administração & dosagem , Masculino , Meropeném , Pessoa de Meia-Idade , Estudos Retrospectivos , Tienamicinas/administração & dosagem , Resultado do Tratamento , Adulto JovemAssuntos
Diálise Peritoneal Ambulatorial Contínua/efeitos adversos , Peritonite/etiologia , Infecções Estafilocócicas/etiologia , Staphylococcus epidermidis , Infecções Estreptocócicas/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Peritonite/tratamento farmacológico , Peritonite/microbiologia , Estudos Retrospectivos , Fatores de Risco , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológicoRESUMO
The current study focuses on updating estimates of the numbers of individuals carrying the two most common deficiency alleles, protease inhibitor (PI)*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in 20 Asian countries. A total of 170 cohorts with 31,177 individuals were selected from 20 Asian countries. The total AT-D populations in the countries selected were: 7,264 ZZ; 36,754 SZ; 6,672,479 MZ; 46,492 SS; and 16,881,108 MS. Marked differences among the Asian countries and regions were also found for the prevalence of the deficiency alleles PI*S and PI*Z. These numbers demonstrate that AT-D is not just a genetic disease that affects smaller numbers than various countries, for example, in Europe. There were marked differences between the prevalence of the PI*S and PI*Z deficiency alleles among these 20 Asian countries as well as among the countries within a given geographic region in Asia. The largest numbers of ZZ phenotypes (3,000-14,000) were in Afghanistan, Pakistan, Saudi Arabia and Thailand; with <1,700 in each of the remaining countries.
Assuntos
Inibidores de Proteases/metabolismo , Deficiência de alfa 1-Antitripsina/genética , alfa 1-Antitripsina/genética , Alelos , Ásia/epidemiologia , Estudos de Coortes , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Fenótipo , Prevalência , Deficiência de alfa 1-Antitripsina/epidemiologiaRESUMO
The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in Europe. Criteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen-antibody crossed electrophoresis; 2) rejection of "screening studies"; 3) statistical precision factor score of > or = 5 for Southwest, Western and Northern Europe, > or = 4 for Central Europe, > or = 3 for Eastern Europe; and 4) samples representative of the general population. A total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland; two each from Denmark, Estonia and Lithuania; three each from Portugal and the UK; four each from Finland, The Netherlands, Norway and Spain; five each from Russia and Germany; six from Poland; eight from Italy; and nine from France). The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ; 560,515 SZ; 16,323,226 MZ; 630,401 SS; and 36,716,819 MS. The largest number of ZZ (5,000-15,000) were in Italy, Spain, Germany, France, the UK, Latvia, Sweden and Denmark, followed by Belgium, Portugal, Serbia-Montenegro, Russia, The Netherlands, Norway and Austria (1,000-2,000), with < 1,000 in each of the remaining countries. A remarkable lack in number of reliable epidemiological studies and marked differences among these European countries and regions within a given country was also found.
Assuntos
Deficiência de alfa 1-Antitripsina/epidemiologia , Deficiência de alfa 1-Antitripsina/genética , alfa 1-Antitripsina/genética , Alelos , Europa (Continente)/epidemiologia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Fenótipo , PrevalênciaRESUMO
The objective of the present study was to review published surveys on allelic frequencies S and Z in European populations to evaluate the validity of the reported data. More than a hundred studies on the topic, published since 1965 until 2000, were retrieved by Medline, Index Medicus and bibliographic references consultation. The criteria for studies selection were: 1) sample size> or =250 individuals; 2) alpha-1-antitrypsin phenotype determination performed by means of crossed antigen-antibody or isoelectric focusing in polyacrylamide gels; 3) PI type determination performed without any previous screening procedure; 4) S and Z 95% confidence interval (CI) of the reported outcomes with a calculated coefficient of variation <42.3 for S and <95.8 for Z; 5) S and Z 95% CI of the reported outcomes comprised within 95% CI limits of comparative hypothetical surveys designed with the same sample size of the questioned surveys and the highest/lowest frequencies accepted for a specific area, according to the figures of isogen boundary maps. Seventy studies comply with the five established criteria for analysis. According to the data of the selected studies, a geographical distribution on S and Z gene frequencies in Europe is proposed.
Assuntos
Alelos , alfa 1-Antitripsina/genética , Europa (Continente) , Frequência do Gene , Genética Populacional , Genótipo , Geografia , Humanos , Metanálise como Assunto , Fenótipo , Literatura de Revisão como AssuntoRESUMO
The objective of the present study was to review published surveys on allelic frequencies S and Z in countries outside Europe to evaluate the validity of the reported data. Studies on the topic, published from 1965 to May 2001, were retrieved using MEDLINE and bibliographic reference consultations. The criteria for the selection of the studies were the following: 1) sample size >or=250 individuals; 2) alpha1-antitrypsin phenotype determination performed by means of crossed antigen-antibody, isoelectric focusing in polyacrylamide gels, or polymerase chain reaction (PCR); 3) PI type determination performed without any previous screening procedure; 4) S and Z 95% CI of the reported outcomes within the limits of a calculated coefficient of variation. Forty-three out of 85 studies comply with the established criteria for being analysed. Worldwide maps of geographical distributions of PI S and PI Z frequencies have been designed by the authors by adding the data provided by these 43 selected studies to the 70 reported in a recent European meta-analysis.