RESUMO
The present study evaluates the influence of spirituality/religiosity (S/R) on the coping strategies used by people with cancer (breast and prostate) compared with those without cancer, in a sample of 445 Spanish participants (160 with cancer and 285 without). Significant interactions between the presence of cancer and S/R are observed in the use of coping strategies such as religion, humor and disconnection. Spirituality as a predictor variable through the use of religion as a strategy, increased the explanatory capacity of age by 58.9% (ß = .794) while praying/talking to God predicts the use of this strategy with a ß = .383. In people with cancer, active coping was predicted by spirituality (ß = .327). However, spirituality was a negative predictor of maladaptive coping, with a beta coefficient equal to .383. The data suggest that patients' beliefs need to be considered by health care professionals when designing interventions.
Assuntos
Neoplasias , Terapias Espirituais , Adaptação Psicológica , Humanos , Masculino , Religião , EspiritualidadeRESUMO
OBJECTIVE: This study is aimed to probe the usefulness of refrigerated aliquots of amniotic fluid to be used for fluorescence in situ hybridization (FISH) in order to perform an accurate prenatal diagnosis avoiding the risk related to an additional amniocentesis procedure and the psychological stress to the pregnant woman and her family. METHODS: Non-cultured amniotic fluid (AF) samples were analyzed by FISH. Such samples were divided into two groups. The first one included fresh collected AF (FCAF, N = 30). The second one included refrigerated samples of AF (RSAF, N = 12) to corroborate uncertain chromosome aberration identification obtained by conventional methods. Sample refrigeration did not exceed 18 days. RESULTS: No differences were found between groups. In the RSAF group, three cases of chromosomal mosaicismo and seven cases of pseudomosaicism were corroborated. No alteration adjudicated to aberrant chromosomal line presence was found in born children according to genetic specialists' criteria. In the two remaining cases, applied procedure allowed elucidating fetal sex in one case and the origin of a marker chromosome in the other. CONCLUSIONS: Amniocytes obtained from RAFS are a useful biological material to be assayed by FISH, achieving an accurate prenatal diagnosis and avoiding an additional amniocentesis.
Assuntos
Amniocentese , Líquido Amniótico , Diagnóstico Pré-Natal/métodos , Preservação Biológica/métodos , Refrigeração , Adulto , Amniocentese/métodos , Amniocentese/estatística & dados numéricos , Líquido Amniótico/citologia , Estudos de Casos e Controles , Aberrações Cromossômicas , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem/métodos , Gravidez , Reoperação , Manejo de Espécimes , Estudos de Validação como AssuntoRESUMO
Candida parapsilosis emerged as an important opportunistic pathogen, causing candidaemia worldwide. Nosocomial outbreaks triggered by this species have been frequently described, particularly in cancer patients. For a better understanding of its epidemiology, several typing methods are used and microsatellite analysis has been reported as highly discriminant. The main objective of this work was to study C. parapsilosis isolates by application of microsatellite genotyping to distinguish epidemiologically related strains, compare clinical and environmental isolates and determine possible routes of dispersion of the isolates in the hospital setting. A total of 129 C. parapsilosis isolates from different origins, including hospital environment and hands of healthcare workers, were genotyped using four microsatellite markers. The isolates were recovered from different health institutions. Analysis of C. parapsilosis isolates from hospital environment showed great genotypic diversity; however, the same or very similar genotypes were also found. The same multilocus genotype was shared by isolates recovered from the hand of a healthcare worker, from the hospital environment and from patients of the same healthcare institution, suggesting that these could be possible routes of transmission and that infections due to C. parapsilosis may be mainly related with exogenous transmission to the patient. Examination of sequential isolates from the same patients showed that colonizing and bloodstream isolates had the same multilocus genotype in the majority of cases. We demonstrate that this typing method is able to distinguish clonal clusters from genetically unrelated genotypes and can be a valuable tool to support epidemiologic investigations in the hospital setting.
Assuntos
Candida/classificação , Candidíase/microbiologia , Infecção Hospitalar/microbiologia , Microbiologia Ambiental , Variação Genética , Técnicas de Genotipagem/métodos , Repetições de Microssatélites , Adolescente , Idoso , Candida/genética , Candida/isolamento & purificação , Candidíase/epidemiologia , Criança , Pré-Escolar , Infecção Hospitalar/epidemiologia , Feminino , Genótipo , Pessoal de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular/métodosRESUMO
OBJECTIVES: To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. METHODS: An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. RESULTS: Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. CONCLUSION: Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba.
Assuntos
Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Adulto , Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Estudos Transversais , Cuba/epidemiologia , Análise Citogenética/estatística & dados numéricos , Feminino , Humanos , Idade Materna , Gravidez , Prevalência , Sistema de Registros , Adulto JovemRESUMO
OBJECTIVES: To measure waist circumference (WC) and supine abdominal height (SAH) at different anatomic sites and to assess the relationship with cardiometabolic risk factors in women aged >60 years. METHODS: The present study included 113 women from Viçosa, Minas Gerais, Brazil. The evaluations comprised anthropometric, biochemical and haemodynamic measurements. Different anatomical sites were used to measure WC: (i) the midpoint between the last rib and iliac crest; (ii) umbilical level; (iii) immediately above the iliac crests; and (iv) the narrowest point between the last rib and the iliac crest. Measurements were also taken at different anatomic sites for SAH: (i) the midpoint between the iliac crests; (ii) umbilical level; (iii) higher abdominal diameter; and (iv) the narrowest point between the last rib and the iliac crest. RESULTS: It was found that 35.4% of women were overweight, and the area (SE) body mass index was 25.8 (4.2) kg/m(2). WC at the umbilical level [area (SE) area under the curve (AUC) = 0.694 (0.079)] and SAH at the midpoint between the iliac crests [AUC = 0.747 (0.076)] showed the largest areas under the receiver operating characteristic curve (P < 0.05) with respect to the identification of cardiometabolic risk factors associated with the metabolic syndrome (MS) where, of the two measures, SAH showed the greatest predictive potential. CONCLUSIONS: The results obtained in the present study suggest that, for the assessment of older women, the umbilical level and the midpoint between the iliac crests should used to measure WC and SAH, respectively. SAH showed the greatest predictive power for cardiometabolic risk factors associated with the MS in older women.
Assuntos
Abdome , Índice de Massa Corporal , Síndrome Metabólica , Obesidade , Circunferência da Cintura , Idoso , Idoso de 80 Anos ou mais , Antropometria/métodos , Área Sob a Curva , Brasil/epidemiologia , Feminino , Humanos , Síndrome Metabólica/etiologia , Pessoa de Meia-Idade , Obesidade/epidemiologia , Sobrepeso , Prevalência , Curva ROC , Fatores de RiscoRESUMO
OBJECTIVE: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). METHODS: We administered a neuropsychological battery and the University of Pennsylvania Smell Identification Test (UPSIT) to participants in the CORE-PD study who were tested for mutations in PARKIN, LRRK2, and GBA. Participants included 33 GBA mutation carriers and 60 noncarriers of any genetic mutation. Primary analyses were performed on 26 GBA heterozygous mutation carriers without additional mutations and 39 age- and PD duration-matched noncarriers. Five cognitive domains, psychomotor speed, attention, memory, visuospatial function, and executive function, were created from transformed z scores of individual neuropsychological tests. Clinical diagnoses (normal, mild cognitive impairment [MCI], dementia) were assigned blind to genotype based on neuropsychological performance and functional impairment as assessed by the Clinical Dementia Rating (CDR) score. The association between GBA mutation status and neuropsychological performance, CDR, and clinical diagnoses was assessed. RESULTS: Demographics, UPSIT, and Unified Parkinson's Disease Rating Scale-III performance did not differ between GBA carriers and noncarriers. GBA mutation carriers performed more poorly than noncarriers on the Mini-Mental State Examination (p = 0.035), and on the memory (p = 0.017) and visuospatial (p = 0.028) domains. The most prominent differences were observed in nonverbal memory performance (p < 0.001). Carriers were more likely to receive scores of 0.5 or higher on the CDR (p < 0.001), and a clinical diagnosis of either MCI or dementia (p = 0.004). CONCLUSION: GBA mutation status may be an independent risk factor for cognitive impairment in patients with PD.
Assuntos
Disfunção Cognitiva/genética , Análise Mutacional de DNA , Triagem de Portadores Genéticos , Glucosilceramidase/genética , Testes Neuropsicológicos , Doença de Parkinson/genética , Adulto , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/genética , Disfunção Cognitiva/diagnóstico , Demência/diagnóstico , Demência/genética , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/genética , Feminino , Testes Genéticos , Genótipo , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Transtornos da Memória/diagnóstico , Transtornos da Memória/genética , Entrevista Psiquiátrica Padronizada , Pessoa de Meia-Idade , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/genética , Doença de Parkinson/diagnóstico , Fenótipo , Proteínas Serina-Treonina Quinases/genética , Ubiquitina-Proteína Ligases/genética , beta-Glucosidase/genéticaRESUMO
BACKGROUND: Mutations in parkin are a known genetic risk factor for early onset Parkinson's disease (EOPD) but their role in non-motor manifestations is not well established. Genetic factors for depression are similarly not well characterized. We investigate the role of parkin mutations in depression among those with EOPD and their relatives. METHODS: We collected psychiatric information using the Patient Health Questionnaire and Beck Depression Inventory II on 328 genotyped individuals including 88 probands with early onset PD (41 with parkin mutations, 47 without) and 240 first and second-degree relatives without PD. RESULTS: Genotype was not associated with depression risk among probands. Among unaffected relatives of EOPD cases, only compound heterozygotes (n = 4), and not heterozygotes, had significantly increased risk of depressed mood (OR = 14.1; 95% CI 1.2-163.4), moderate to severe depression (OR = 17.8; 95% CI 1.0-332.0), depression (score ≥ 15) on the Beck Depression Inventory II (BDI-II) (OR = 51.9; 95% CI 4.1-657.4), and BDI-II total depression score (ß = 8.4; 95% CI 2.4-11.3) compared to those without parkin mutations. CONCLUSIONS: Relatives of EOPD cases with compound heterozygous mutations and without diagnosed PD may have a higher risk of depression compared to relatives without parkin mutations. These findings support evidence of a genetic contribution to depression and may extend the phenotypic spectrum of parkin mutations to include non-motor manifestations that precede the development of PD.
Assuntos
Depressão/genética , Predisposição Genética para Doença/genética , Doença de Parkinson/genética , Doença de Parkinson/psicologia , Ubiquitina-Proteína Ligases/genética , Adulto , Idade de Início , Análise Mutacional de DNA , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Mutação , Testes Neuropsicológicos , Fenótipo , Fatores de RiscoRESUMO
BACKGROUND: While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown. OBJECTIVE: To assess the relationship between Parkin genotype and olfaction in PD probands and their unaffected relatives. METHODS: We administered the University of Pennsylvania Smell Identification Test (UPSIT) to 44 probands in the Consortium on Risk for Early-Onset Parkinson Disease study with PD onset ≤50 years (10 Parkin mutation heterozygotes, 9 compound heterozygotes, 25 noncarriers) and 80 of their family members (18 heterozygotes, 2 compound heterozygotes, 60 noncarriers). In the probands, linear regression was used to assess the association between UPSIT score (outcome) and Parkin genotype (predictor), adjusting for covariates. Among family members without PD, we compared UPSIT performance in heterozygotes vs noncarriers using generalized estimating equations, adjusting for family membership, age, gender, and smoking. RESULTS: Among probands with PD, compound heterozygotes had higher UPSIT scores (31.9) than heterozygotes (20.1) or noncarriers (19.9) (p < 0.001). These differences persisted after adjustment for age, gender, disease duration, and smoking. Among relatives without PD, UPSIT performance was similar in heterozygotes (32.5) vs noncarriers (32.4), and better than in heterozygotes with PD (p = 0.001). CONCLUSION: Olfaction is significantly reduced among Parkin mutation heterozygotes with PD but not among their heterozygous relatives without PD. Compound heterozygotes with PD have olfaction within the normal range. Further research is required to assess whether these findings reflect different neuropathology in Parkin mutation heterozygotes and compound heterozygotes.
Assuntos
Doença de Parkinson/genética , Olfato , Ubiquitina-Proteína Ligases/genética , Adulto , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doença de Parkinson/fisiopatologiaRESUMO
The human immunodeficiency virus replication cycle begins by sequential interactions between viral envelope glycoproteins with CD4 molecule and a member of the seven-transmembrane, G-protein-coupled, receptors' family (coreceptor). In this report we focused on the contribution of CCR8 as alternative coreceptor for HIV-1 and HIV-2 isolates. We found that this coreceptor was efficiently used not only by HIV-2 but particularly by HIV-1 isolates. We demonstrate that CXCR4 usage, either alone or together with CCR5 and/or CCR8, was more frequently observed in HIV-1 than in HIV-2 isolates. Directly related to this is the finding that the non-usage of CXCR4 is significantly more common in HIV-2 isolates; both features could be associated with the slower disease progression generally observed in HIV-2 infected patients. The ability of some viral isolates to use alternative coreceptors besides CCR5 and CXCR4 could further impact on the efficacy of entry inhibitor therapy and possibly also in HIV pathogenesis.
Assuntos
HIV-1/fisiologia , HIV-1/patogenicidade , HIV-2/fisiologia , HIV-2/patogenicidade , Receptores CCR8/fisiologia , Receptores de HIV/fisiologia , Antagonistas dos Receptores CCR5 , Linhagem Celular , Estudos de Coortes , Infecções por HIV/fisiopatologia , Infecções por HIV/virologia , HIV-1/isolamento & purificação , HIV-2/isolamento & purificação , Humanos , Técnicas In Vitro , Receptores CCR5/fisiologia , Receptores CCR8/antagonistas & inibidores , Receptores CXCR4/antagonistas & inibidores , Receptores CXCR4/fisiologia , Receptores de HIV/antagonistas & inibidores , Especificidade da Espécie , Replicação Viral/fisiologiaRESUMO
Las aplasias medulares congénitas constituyen un grupo heterogéneo de enfermedades que se caracterizan por insuficiencia medular, asociadas frecuentemente a una o más anomalías somáticas y con riesgo elevado de neoplasias. Son enfermedades raras, generalmente diagnosticadas en la edad pediátrica, y con una mortalidad prematura importante.Los autores presentan 11 casos de aplasia medular congénita, 8 de anemia de Fanconi y 3 de disqueratosis congénita. Estos casos fueron diagnosticados en los últimos 14 años en el Hospital de Dona Estefânia (AU)
The inherited aplastic anaemias are a heterogeneous group of disorders characterized by bone marrow failure, frequent association with one or more somatic anomalies and increased risk of cancer. They are rare disorders, usually diagnosed at paediatric age, and have significant premature mortality.The authors report 11 cases of inherited aplastic anaemias, 8 of Fanconi′s anaemia and 3 of Dyskeratosis congenita. These cases were diagnosed in the last 14 years in the Dona Estefânia Hospital (AU)
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Displasia Ectodérmica/complicações , Medula Óssea/anormalidades , Anemia de Fanconi/complicações , Disceratose Congênita/complicações , Anormalidades Múltiplas/epidemiologia , Leucoplasia Oral/complicações , Estudos Retrospectivos , Pancitopenia/complicaçõesRESUMO
The inherited aplastic anaemias are a heterogeneous group of disorders characterized by bone marrow failure, frequent association with one or more somatic anomalies and increased risk of cancer. They are rare disorders, usually diagnosed at paediatric age, and have significant premature mortality. The authors report 11 cases of inherited aplastic anaemias, 8 of Fanconi's anaemia and 3 of Dyskeratosis congenita. These cases were diagnosed in the last 14 years in the Dona Estefânia Hospital.
Assuntos
Anemia Aplástica/genética , Anemia Aplástica/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
This study presents data on the incidence of candidemia in a Portuguese oncology hospital during a 6-year period. The species distribution and their antifungal susceptibility, as well as the clinical outcomes associated with candidemia were evaluated. A total of 119 episodes were reported, with the majority occurring among patients older than 56 years. The most common underlying medical conditions were solid tumors (64.5%) and hematological disease (28.2%). The most frequent species found was Candida albicans (48.7%), followed by C. parapsilosis (20.2%), C. tropicalis (8.4%), C. krusei (6.7%) and C. glabrata (5.0%), but Saccharomyces cerevisiae and Rhodotorula mucilaginosa were also isolated. Candida albicans was more frequently associated with solid tumors of the gastrointestinal and genitourinary tracts and breast (P=0.005), while non-C. albicans Candida species were most frequently recovered from hematological patients (P=0.007). The mortality rate associated with candidemia was 31.9% (P=0.016). All C. albicans and C. parapsilosis isolates were susceptible to fluconazole, voriconazole and itraconazole. Resistance to caspofungin was only observed in C. albicans and in the R. mucilaginosa isolates. Posaconazole was active against all C. parapsilosis isolates tested but resistant strains were found among C. albicans (4.9%), C. tropicalis (12.5%), C. krusei (25%) and C. glabrata (50%). This study provides useful information regarding the local epidemiology of candidemia in cancer patients.
Assuntos
Candidíase/epidemiologia , Fungemia/epidemiologia , Neoplasias/epidemiologia , Neoplasias/microbiologia , Adolescente , Adulto , Idoso , Institutos de Câncer , Candidíase/complicações , Candidíase/diagnóstico , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Estudos de Coortes , Farmacorresistência Fúngica , Feminino , Fungemia/complicações , Fungemia/diagnóstico , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , Prognóstico , Fatores de RiscoRESUMO
Diante das dificuldades existentes em torno do processo de avaliação do consumo alimentar, especificamente na adolescência, o presente estudo se propôs a comparar diferentes instrumentos de inquérito dietético utilizados no grupo etário em questão. Tal estudo foi realizado com 60 adolescentes, do sexo feminino, entre 14 e 18 anos de idade. Foram aplicados o 3 repetições do Recordatório de 24 Horas (R24H), Registro Alimentar de três dias (RA) e Lista de Compras (LC): da Família (LCF) e do Adolescente (LCA). Os R24H e RA mostraram boa reprodutibilidade, sendo possível inferir que uma única aplicação do R24H ou RA foi capaz de refletir a média (ou mediana) de ingestão do grupo populacional estudado. A utilização LC permitiu o conhecimento da disponibilidade de alimentos no contexto em que o indivíduo se insere. Todos os instrumentos dietéticos são passíveis de erros, assim a escolha do mais adequado deve se basear nos propósitos do estudo, bem como, na população estudada.
Given the difficulties surrounding evaluating food consumption, specifically during adolescence, the goal of the present study was to compare different dietary assessment instruments used for this age group. The study was carried out with a group of 60 female adolescents between 14 and 18 years of age. Three repetitions of 24-Hour Recall, three-day Dietary Records and Purchase List of the adolescents and their families were collected. The 24 Hour Recall and Dietary Records had good repeatability, allowing to infer that only one application of oneof these instruments was capable of reflecting the ingestion average (or median) of the study population group. The Purchase List allowed us to know the food availability within the context of the individuals conditions. All dietary assessment instruments may contain errors, therefore the choice of the most adequate method must rely on the objectives of the study being developed, as well as the study population.
Assuntos
Humanos , Feminino , Adolescente , Registros de Dieta , Inquéritos sobre Dietas , Ingestão de Energia , Inquéritos e Questionários , Rememoração Mental , Reprodutibilidade dos TestesRESUMO
OBJECTIVE: To evaluate the educational influence in the relative validation of a semiquantitative food frequency questionnaire (FFQs) for adults in the city of Viçosa, Brazil. DESIGN AND SUBJECTS: Four 24-h dietary recalls (reference method) were applied to a sample of 94 adults of both genders, at intervals of 1 month. At the end of the study, an FFQs consisting of 58 food items was also applied. Then, the individuals were divided into two main groups according to their educational level (lower and higher). The dietary data were calculated by the Diet Pro 4.0 software and analyzed according to differences of means or medians and Pearson's correlation coefficients. These coefficients were adjusted by the energy and corrected by the within-person variance for each educational group, considering the extreme quartiles of the data distribution. RESULTS: The intake of energy and nutrients, based on the 24 h dietary recalls, was inferior for the lower educational group (P < 0.05). For the FFQs, just the protein and calcium intakes were statistically different, suggesting interference of the education variable in this assessment. Over estimations in the FFQs were identified in the analyses of means and medians for vitamin C and retinol intakes in the lower education group and for retinol in the higher education one. However, when evaluated by correlation coefficients non-adjusted and adjusted, they were well correlated. On the other hand, lipid (r = 0.34) and calcium (r = 0.13) coefficients of the group with less instruction showed beneath the desirable values, suggesting weak consistence of the estimates provided by the FFQs for these nutrients. Correlation means of r = 0.65 and 0.54 were found for the higher and lower educational groups, respectively. CONCLUSIONS: The results indicate that FFQs showed acceptable performance on evaluating the habitual food consumption for most of the nutrients in the studied population. A tendency for better quantifications in the groups with higher education was observed, inferring its influence in the assessment of the dietary intake.
Assuntos
Dieta , Escolaridade , Avaliação Nutricional , Inquéritos e Questionários/normas , Adulto , Brasil , Ingestão de Energia , Feminino , Humanos , Masculino , Rememoração Mental , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Objetivo. Detectar portadores de reordenamientos cromosómicos estructurales en los miembros de la familia; brindar asesoramiento genético y diagnóstico prenatal citogenético a los que lo requirieran. Métodos. Se estudia la familia a partir de un propósito portador de una t(3;8)(p21;p23.3), los estudios cromosómicos fueron realizados en linfocitos de sangre periférica y células de líquido amniótico, respectivamente, por métodos convencionales de cultivo y de tinción. Resultados. La familia está constituida por 36 miembros; 26 fueron estudiados (71,4 por ciento), siete (20 por ciento) no requirieron del estudio por ser sus padres no portadores del reordenamiento y tres (8,6 por ciento) no aceptaron. Se detectaron 16 portadores de la translocación para un 50 por ciento (10 en edad reproductiva); de ellos, cinco recibieron estudios prenatales citogenéticos, se diagnóstico un feto desbalanceado para un 20 por ciento. La segregación del tipo alternante ocurrió en el 80 por ciento de los casos. No se hallaron en la familia enfermedades relacionadas con los puntos de rupturas descritos. Conclusiones. El reordenamiento estructural estudiado es estable; se ha mantenido en la mayoría de las generaciones (4); se detectó un desbalance cromosómico en estudios prenatales después del estudio de familia; la segregación que predominó fue del tipo alternante, aunque ocurrió una del tipo adyacente 1; la mayoría de los portadores están en edad reproductiva, por lo que es necesario una estrecha vigilancia genética sobre los mismos (AU)
Assuntos
Adolescente , Feminino , Humanos , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Translocação Genética/genética , Rearranjo Gênico/genética , Fácies , Linhagem , Distribuição por Sexo , Fatores de Risco , Triagem de Portadores Genéticos/métodosRESUMO
A survey was made of the current status of treatment of haemophilic boys at 20 centres in 16 European countries and includes approximately 1500 of the estimated 6500 haemophiliacs in the participating countries. Many mild haemophiliacs are not seen, or seen infrequently, at haemophilia centres and this requires study. Nine of 18 centres provide continuous prophylaxis to 80-100% of their patients, five centres provide it to 55-80% and the remaining four centres to 15-40% of the boys. The median dose given was 6240 U kg-1 year-1 (range 3120-7800). Four centres administered only recombinant concentrates to children with severe haemophilia A, while seven centres administered recombinant concentrates to 75-90% and the remaining centres to less than 50% of the boys (two centres < 10%). When asked for the choice of concentrate for a newly diagnosed boy with severe haemophilia A, all but one centre preferred recombinant concentrate. Most boys below 6 years received concentrates via a peripheral vein but three centres preferred a central venous line for 80-100% of the boys. Thirteen of 18 centres applied home treatment to 84-100% of the boys and the remaining five centres to 57-77% of the boys.
Assuntos
Fator IX/administração & dosagem , Fator VIII/administração & dosagem , Hemofilia A/tratamento farmacológico , Hemofilia A/epidemiologia , Hemofilia B/tratamento farmacológico , Hemofilia B/epidemiologia , Adolescente , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pacientes Ambulatoriais , Proteínas Recombinantes/administração & dosagem , Fatores de Tempo , Resultado do TratamentoRESUMO
PCR fingerprinting with single non-specific primers was used to type vaginal isolates of C. albicans from Portugal, Angola, Madagascar, and two regions of Germany (Berlin and Munich). In addition to analysing isolates that exhibited the normal biotype of C. albicans, the study included atypical strains that failed to assimilate glucosamine and N-acetylglucosamine, which were isolated from women in Angola and Madagascar. A total of 212 strains of C. albicans were studied, representing 87 different multi-locus genotypes. The genotypes of strains from each geographical population were highly similar but not identical. There was one exception: a strain from Portugal grouped with the typical strains from Angola. The typical and especially the atypical populations from Africa displayed less genotype variation than the populations from Europe. The Portuguese samples exhibited the greatest genotypic heterogeneity. Distance analysis (UPGMA) revealed a statistically weak correlation between genotype and geographical origin of the C. albicans isolates.
Assuntos
Candida albicans/classificação , Candida albicans/genética , Candidíase Vulvovaginal/microbiologia , Vagina/microbiologia , Adolescente , Adulto , Angola/epidemiologia , Candida albicans/isolamento & purificação , Candidíase Vulvovaginal/epidemiologia , Impressões Digitais de DNA , DNA Fúngico/análise , Feminino , Variação Genética , Genótipo , Alemanha/epidemiologia , Humanos , Madagáscar/epidemiologia , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase/métodos , Portugal/epidemiologiaRESUMO
To demonstrate that human immunodeficiency virus type 2 (HIV-2) mother-to-child transmission exists, HIV-2 isolates were obtained from both an asymptomatic mother (HIV-2 strain ARM), and her child (HIV-2 strain SAR), who had a diagnosis of AIDS. To determine their biological phenotype, primary isolates were used to infect various primary mononuclear cells and cell lines. HIV-2 ARM replicates in primary cells and Jurkat-tat, while HIV-2 SAR infects these cells plus SupT1, which led us to classify HIV-2 ARM as a slow/low virus and HIV-2 SAR as having an intermediate (slow/low-3) phenotype. Molecular analysis of the env region corresponding to gp125 was performed. Viral DNA was cloned, sequenced, and used to construct phylogenetic trees. The DNA sequence analysis demonstrated an overall nucleotide diversity of 7.6%. The results present evidence that the child's strain is more virulent than the mother's strain, which is in agreement with the immunodeficiency of the child. The phylogenetic trees that were constructed demonstrate that the two isolates cluster together, being closer to each other than to any other isolate described until now.
Assuntos
Produtos do Gene env/genética , Infecções por HIV/virologia , HIV-2/genética , Transmissão Vertical de Doenças Infecciosas , Precursores de Proteínas/genética , Adulto , Sequência de Aminoácidos , Sequência de Bases , DNA Viral , Feminino , Infecções por HIV/fisiopatologia , Infecções por HIV/transmissão , HIV-2/classificação , HIV-2/fisiologia , Humanos , Lactente , Células Jurkat , Dados de Sequência Molecular , Mães , Fenótipo , Filogenia , Homologia de Sequência de Aminoácidos , Células Tumorais Cultivadas , Produtos do Gene env do Vírus da Imunodeficiência HumanaRESUMO
UNLABELLED: Abnormalities of cardiovascular structure and function have been described among children with human immunodeficiency virus (HIV). In order to evaluate their occurrence and clinical predictors, 32 children infected with HIV, aged three months to 13 years (mean age = 3.11 +/- 3.51 years) were studied. Perinatal transmission was identified in 90% of the children. Twenty-two patients (pts) (69%) had symptoms, nine being moderately symptomatic and eight severely symptomatic. Fourteen pts had immunological disturbances and eight of them were severely immunosuppressed. Twenty-eight pts (88%) had HIV-1 infection and 6 recent Ebstein-Barr virus coinfection. Nineteen were on zidovudine and 14 on intravenous immunoglobulin treatment. Nineteen cardiovascular abnormalities were found in 15 pts (47%): 11 cases of pulmonary hypertension by echocardiographic criteria (eight of them had interstitial lung infiltrates seen on chest X-ray) and four cases of left ventricular dysfunction requiring anticongestive therapy. Other abnormalities were: patent ductus arteriosus, septal hypertrophy, mitral valve prolapse and pericardial effusion (one case each). Surface ECG displayed right ventricular hypertrophy in four pts, left ventricular hypertrophy in one patient and unspecific ST-T wave changes in two pts. Fourteen pts (44%) had sinus tachycardia with mean heart rate above the 95th percentile on 24-hour Holter monitoring. CONCLUSIONS: Cardiovascular abnormalities are frequent among children with HIV-1 infection in late stages; pulmonary hypertension is the most frequently found cardiovascular anomaly and seems to be related to either chronic or recurrent respiratory disease; cardiological follow-up is recommended for HIV-infected children.
Assuntos
Doenças Cardiovasculares/etiologia , Infecções por HIV/complicações , HIV-1 , Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Adolescente , Doenças Cardiovasculares/diagnóstico , Criança , Pré-Escolar , Feminino , Infecções por HIV/classificação , Infecções por HIV/diagnóstico , Humanos , Lactente , Masculino , Estudos Prospectivos , Fatores de RiscoRESUMO
The purpose of this study was to assess the effects of acute pharmacological interventions on the ischemia-reperfusion damage in a canine model of hypothermic global myocardial ischemia. Three experimental groups each consisting of seven animals were subjected to 2 h of global ischemia followed by 1 h of reperfusion. Group A (control) used Tyers' iso-osmolar potassium cardioplegia solution; group B received allopurinol (40 mg/kg), 95% intravenously (IV) systemically with 5% added to the final infusion of Tyers' solution. In group C, superoxide dismutase (6.5 mg/kg) was used, one third of the total dose in the final delivery of the Tyers' cardioplegia solution and two thirds IV during the initial 5 min of reperfusion. In all three groups, myocardial temperature was maintained between 15 and 19 degrees C. Methods of evaluation included hemodynamic and echocardiographic parameters of ventricular function. Assessment was performed at three time periods: pre-cardiopulmonary bypass (control), 60 min postreperfusion and immediately post-volume loading (at 2 h after cardiopulmonary bypass). No significant deterioration of myocardial function was observed in either of the experimental groups after the use of these preservation techniques. Comparison of regression slopes based on analysis of covariance for myocardial performance, systolic function, and diastolic compliance did not demonstrate any significant differences between the groups. Two hours of global ischemia was not sufficient to cause measurable damage to the myocardium on the basis of which the pharmacological intervention with allopurinol and superoxide dismutase could be evaluated. The controversy surrounding the use of allopurinol and superoxide dismutase is discussed with the findings of this experimental protocol and is brought up for scientific dialogue.