Risk Of Leukemia In First Degree Relatives Of Patients With Nonsyndromic Cleft Lip And Palate.

The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P). This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher's test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

Coping by relatives of critical care patients

OBJECTIVE: To describe the coping strategies used by the relatives of patients hospitalized in an intensive care unit. METHODS: This is a descriptive study that uses a convenience sample and both qualitative and quantitative methods. The study was conducted at a tertiary university hospital in Brazil. Participants included 41 relatives who were selected during the first 96 hours of patient hospitalization in the intensive care unit. RESULTS: The participants reported that they more frequently used Coping Strategies Based on the Stressor, followed by Religiosity/Fantasy Thinking and Seeking for Social Support. There was a statistically significant relationship (P <.01) between the use of the strategy Seeking for Social Support and elevated Acute Physiology, Age, and Chronic Health Evaluation 11 scores. Qualitative analysis allowed a clearer understanding of the relation between the patient`s condition and changes in the coping strategies used by the patient`s relatives. CONCLUSION: This study describes the coping strategies used by patients` relatives during the early hospitalization period. This investigation allowed for a better understanding of the relatives` psychologic aspects and their relation with the patient`s clinical condition. The results shall assist the design of specific interventions directed at facilitating positive coping responses on the part of relatives. (Heart Lung (R) 200 38:217-227.)

Monoclonal B-cell lymphocytosis in first-degree relatives of patients with sporadic (non-familial) chronic lymphocytic leukaemia

Although biological similarities have been described among monoclonal B-cell lymphocytosis (MBL) and chronic lymphocytic leukaemia (CLL), the relationships between these two conditions are not fully understood, and new epidemiological studies in different populations and different countries continue to be reported. Here, we investigated 167 first-degree relatives from 42 families of patients with non-familial (sporadic) CLL, using four-colour flow cytometry. MBL was found in seven of 167 subjects (4.1%). Monoclonality was detected in all cases either by light-chain restriction or by polymerase chain reaction. Fluourescence in situ hybridization did not show any chromosomal abnormality. The prevalence of MBL according to age was 0 (0/54) in individuals aged less than 40 years, 2.5% (2/81) between 40 and 60 years, and 15.6% (5/32) in individuals over 60 years. The prevalence of MBL cases in individuals over 60 years was similar to that found in familial CLL relatives at the same age group. This suggests that in older first-degree relatives of patients with sporadic CLL, the risk of MBL detection is as high as in older first-degree relatives from CLL families, which could render these individuals belonging to `sporadic CLL families` as susceptible as individuals from `familial CLL` to the development of clinical CLL.

Fascioliasis in relatives of patients with Fasciola hepatica infection in Peru

High prevalence rates of human fascioliasis have been described in several regions of Peru. We surveyed 20 families in an endemic area of Peru in order to determine the proportion of infection with F. hepatica in relatives of diagnosed subjects and in order to identify associated risk factors. The study included feces and blood samples of 93 subjects. Ages ranged from one to 53 (mean = 18.6; SD = 14.2). The overall prevalence of fascioliasis by fecal examinations was 33.3% (n = 83) and by serology, 51.9% (n = 86). The prevalence in age group I (< 19 years old) by coprological and serological tests was 61.4% and 75.9%, respectively; in group II (> 19 years old) 15.4% and 37.5%. The main associated risk factor with fascioliasis was eating salads (OR = 3.29, CI = 1.2 - 9.0, p = 0.02). In conclusion, human fascioliasis is highly prevalent in the relatives of index cases and the most significant risk factor of acquiring fascioliasis in the family is eating salads in endemic areas.

The influence of burden of care and perceived stigma on expressed emotions of relatives of stable persons with schizophrenia in Nigerian semi-urban/urban settings

RESUMO: Schizophrenia’s burden defines experience of family members and is associated with high level of distress. Courtesy stigma, a distress concept, worsens caregivers’ burden of care and impacts on schizophrenia. Expressed emotion (EE), another family variable, impacts on schizophrenia. However, relationship between EE, burden of care and stigma has been little explored in western literature but not in sub-Saharan Africa particularly Nigeria. This study explored the impact of burden of care and courtesy stigma on EE among caregivers of persons with schizophrenia in urban and semi-urban settings in Nigeria. Fifty caregivers each from semi-urban and urban areas completed a socio-demographic schedule, family questionnaire, burden interview schedule and perceived devaluation and discrimination scale. The caregivers had a mean age of 42 (± 15.6) years. Majority were females (57%), married (49%), from Yoruba ethnic group (68%), monogamous family (73%) and Christians (82%). A higher proportion of the whole sample (53%) had tertiary education. Three out of ten were sole caregivers. Seventy three (73%) lived with the person they cared for. The average number of hours spent per week by a caregiver with a person with schizophrenia was 35 hours. The urban sample had significantly higher proportion of carers with high global expressed emotion (72.7%) than the semi-urban sample (27.3%). The odds of a caregiver in an urban setting exhibiting high expressed emotion are 4.202 times higher than the odds of caregiver in a semi-urban setting. Additionally, there was significance difference between the urban and semi-urban caregivers in discrimination dimension. High levels of subjective and objective burden were associated with high levels of critical comments. In conclusion, this study is the first demonstration of urban-semi-urban difference in expressed emotion in an African country and its findings provide further support to hypothesized relationship between components of EE and burden of care.

Hepatitis B virus infection in children, adolescents, and their relatives: genotype distribution and precore and core gene mutations

INTRODUCTION:The objectives of this study were evaluate hepatitis B virus (HBV) serological markers in children and adolescents followed up at the Child Institute of the Hospital das Clínicas, Faculdade de Medicina de São Paulo, Universidade de São Paulo; identify chronic HBV carriers and susceptible individuals in the intrafamilial environment; characterize HBV genotypes; and identify mutations in the patients and household contacts. METHODS: Ninety-five hepatitis B surface antigen-positive children aged <19 years and 118 household contacts were enrolled in this study. Commercial kits were used for the detection of serological markers, and PCR was used for genotyping. RESULTS: Hepatitis B e antigen (HBeAg) was detected in 66.3% (63/95) of cases. Three of the 30 HBeAg-negative and anti-HBeAg-positive patients presented with precore mutations and 11 presented with mutations in the basal core promoter (BCP). Genotype A was identified in 39 (43.8%) patients, genotype D in 45 (50.6%), and genotype C in 5 (5.6%). Of the 118 relatives, 40 were chronic HBV carriers, 52 presented with the anti-HBc marker, 19 were vaccinated, and 7 were susceptible. Among the relatives, genotypes A, D, and C were the most frequent. One parent presented with a precore mutation and 4 presented with BCP mutations. CONCLUSIONS: Genotypes A and D were the most frequent among children, adolescents, and their relatives. The high prevalence of HBV in the families showed the possibility of its intrafamilial transmission.

More skull characters of the beaked whale Indopacetus pacificus and comparative measurements of Austral relatives.

v.62:no.1(1972)

Electrocardiographic alteration among first degree relatives with serologic evidence of Trypanosoma cruzi infection: a sibship study

To analyze whether electrocardiographic alterations (ECGA) in patients with antibodies to Trypanosoma cruzi showed a patttern of familial aggregation, a sample of 379 young adults (166 men and 213 women) distributed in sibships, were assessed for the presence of anti-T.cruzi antibodies, and subjected to a complete clinical examination and a standard resting electrocardiogram (ECG). Positive T. cruzi serology was detected in 165 individuals, 48 of them showing an abnormal ECG (overall prevalence 29 por cento). One hundred and eleven seropositive individuals were distributed in 45 sibships, each of them constituted by more than one seropositive sib, with ECGA being present in 34 out of these patients. Seropositive subjects with ECGA were detected in 27 sibships. Since the index case within each sibship is counted exactly once, affected individuals selected at random as propositi were extracted to calculate the prevalence of ECGA among first degree relatives of probands. Abnormal ECGs were recorded in 7 out of 45 sibs yielding a prevalence that did not differ from estimations registered in the general population or seropositive sibs. Data from the present sample show no familial aggregation for the occurrence of ECGA in patients with T.cruzi infection.

Asymptomatic Leishmania chagasi Infection in Relatives and Neighbors of Patients with Visceral Leishmaniasis

The frequency of asymptomatic infection among relatives and neighbors of cases of visceral leishmaniasis (VL) was compared and characterization of the immunological response in these subjects was performed. Cases were from a new endemic area, close to the beach and near Salvador, capital of the State of Bahia, Brazil. The characterization of asymptomatic infection was made using a skin reaction test and detection of antibody to Leishmania chagasi by the ELISA test. To characterize the immunological response of these subjects with asymptomatic L. chagasi infection the cytokines profile and the lymphoproliferative response were determined after stimulation of lymphocytes by L. chagasi antigen. There was no difference in the frequency of L. chagasi infection in relatives (45%) and in neighbors (27%) of cases of VL (P>0.05). The immunological response from these subjects was characterized by high production of IFN-g and a low production of IL-10 and a good lymphoproliferative response to L. chagasi antigen

Sex determination in dioecious Mercurialis annua and its close diploid and polyploid relatives.

Separate sexes have evolved on numerous independent occasions from hermaphroditic ancestors in flowering plants. The mechanisms of sex determination is known for only a handful of such species, but, in those that have been investigated, it usually involves alleles segregating at a single locus, sometimes on heteromorphic sex chromosomes. In the genus Mercurialis, transitions between combined (hermaphroditism) and separate sexes (dioecy or androdioecy, where males co-occur with hermaphrodites rather than females) have occurred more than once in association with hybridisation and shifts in ploidy. Previous work has pointed to an unusual 3-locus system of sex determination in dioecious populations. Here, we use crosses and genotyping for a sex-linked marker to reject this model: sex in diploid dioecious M. annua is determined at a single locus with a dominant male-determining allele (an XY system). We also crossed individuals among lineages of Mercurialis that differ in their ploidy and sexual system to ascertain the extent to which the same sex-determination system has been conserved following genome duplication, hybridisation and transitions between dioecy and hermaphroditism. Our results indicate that the male-determining element is fully capable of determining gender in the progeny of hybrids between different lineages. Specifically, males crossed with females or hermaphrodites always generate 1:1 male:female or male:hermaphrodite sex ratios, respectively, regardless of the ploidy levels involved (diploid, tetraploid or hexaploid). Our results throw further light on the genetics of the remarkable variation in sexual systems in the genus Mercurialis. They also illustrate the almost identical expression of sex-determining alleles in terms of sexual phenotypes across multiple divergent backgrounds, including those that have lost separate sexes altogether.