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Familial study of chronic lymphocytic leukemia: aggregation of different malignant processes in families with individuals affected with chronic lymphocytic leukemia.

UNLABELLED: There has been evidence that familial factors play a certain role in some cases of chronic lymphocytic leukemia. It is possible in one or more family members to observe chronic lymphocytic leukemia alone, other malignant disorders or combination of both of them. THE AIM: of our study was to analyze the association of family history of malignances with the onset of chronic lymphocytic leukemia. PATIENTS AND METHODS: We conducted a case-control study through direct inquiry of the families of 126 patients with chronic lymphocytic leukemia. The control group consisted of 124 patients with benignant disorders. For statistic data processing we used Fisher's exact test in 2x2 table and Kaplan-Meier survival analyses. RESULTS: 35.71% of the investigated individuals had first degree relatives with malignant disorders, while in the control group their percentage was 17.7%. Significant correlation between positive family history of malignancy and the onset of chronic lymphocytic leukemia was found (P = 0.0016). The risk of development of chronic lymphocytic leukemia in individuals with family history of malignant disorders was 1.69 times higher than in individuals with negative family history RR = 1.697, 95% C.I. [1.177; 2.448]. There was no significant difference in the general survival between groups with positive and negative family history of malignancy. Stomach cancer was particularly often diagnosed in families with individuals affected with chronic lymphocytic leukemia. Other lymphoproliferative disorders were also registered in 3.9% of the families from the control group. CONCLUSION: Our data show that there is a high risk of getting chronic lymphocytic leukemia in close relatives of affected individuals with malignant disorders. There was no data for greater aggressiveness of chronic lymphocytic leukemia in patients with positive family history of malignancy.

Adolescent↗

Families of young children with handicaps: parental stress and family functioning.

The association of the presence of a child with handicaps and parental stress and family dysfunctioning was examined. Fifty-five families with young children with handicaps were compared with a matched group of families of children without handicaps on the variables of parental stress and family functioning. Results of family psychological measures suggest that families may be resilient in adapting to the demands of raising a child with handicaps. Although families of such children appeared to have high degrees of stress, they differed only minimally from other families in their family functioning. These results reinforce the need for family intervention to alleviate parental stress and for individualized programs emphasizing family strengths and idiosyncratic attributes.

Adaptation, Psychological↗

[The comparative study on parent-adolescent communication between the model student family and the delinquent adolescent family].

This research is based on the communication system theory which considers the family as a communication system or a communication network and which understand interpersonal relations among family members through a communication. This research is intended to define the difference of Parent-Adolescent Child communication between the model student family and the delinquent adolescent family, and also found the factors affecting parent-adolescent child communication. This aims to clarify wether a delinquent behavior is associated with family members' relations caused by dysfunctional communication between parents and their child, moreover explorate their problem to find the method of nursing intervention for prevention and treatment for delinquency. Subjects are 190 families (570 persons: father, mother, adolescent child) of model high school students and 87 families (261 persons) of delinquent adolescents. The employed tool is Olson et al's Parent-Adolescent Communication Scale (PAC, 20 items). The followings are the results derived through hypotheses verification. First, Comparison of two groups showed a significant difference in Parent-Adolescent Communication (t = 2.77, p less than 0.1). In the communication of delinquent group showed lower response than the model group. And also communication of the model group was more opened and positive (t = 2.41, p less than .05), and showed fewer problems (t = 2.06, p less than .05), the delinquent group had more problems. 2ndary, the delinquent group showed significantly more disagreement in response to variable of PAC than the model group. As analyzing of factors affects the Parents-Adolescent Communication, the best method to protect juvenile from delinquency are consistent open-hearted, congruent communication with mutual concern and warm mind between parents and child. And even though the all family don't hardly send together their time for their job, parents have to arrange many times to hold communication with children and to listen attentively to and respond to them, and so to increase their satisfaction for their parents. In conclusion, it seems that delinquent behavior is the outcome caused by dysfunctional communication between the parents and the child because of severe generation gap at adolescence period when the child needs communication with their parents. Therefore, it seems that the delinquent adolescent is the scape-goat of the family. Finally, it seems that more effective method to solve juvenile delinquents increasing day by day, is the family therapy that all family members participate than the individual therapy.

Adolescent↗

Toward the evaluation of family practice: development of a family utilization index.

This paper describes a research project that establishes criteria for utilization patterns of a family practice that could be used to develop evaluation techniques for family practice as a method of delivering primary medical care. The criteria are summarized in a Family Utilization Index, which measures the utilization patterns of a family unit. Changes in the Utilization Index are compared over a five-year period. Changes in attitudes and opinions about family practice in general and the specific Family Medicine Clinic are also compared over time and related to changes in the Family Utilization Index. Utilization patterns have significantly shifted over a five-year period, with more total visits to the clinic due to an increase in the number of family members per family unit using the clinic. Both the utilization patterns and attitudes toward the role of the family physician have shifted, indicating an increased acceptance of family practice.

Adolescent↗

Perceptions of the family physician by patients and family physicians.

The professional definition of the family physician is not based on research that considers both patient and family physician perceptions. Questionnaire responses from 86 family physicians and 287 patients from ten family practices in Los Angeles were analyzed to compare their attitudes, perceptions, and expectations of the family physician. Both groups agreed the family physician could handle most medical problems (including hospital care), should provide continuity, should emphasize preventive medicine, and should be caring. The physician's manner and skill were felt equally important. Family physician and patient expectations conflicted in four major areas: referral, the handling of emotional problems, concern with and care of family, and the issue of autonomy. Such research may help the development of family practice and improve the patient-family physician relationship through improved graduate and continuing medical education for family physicians.

Character↗

Family process in health research: extending a family typology to a new cultural context.

To describe family context in health research, the authors tested a typology of families developed in California with a sample of families in Quebec, Canada. Family scales from the California study were submitted to focus groups, translated, and standardized on a sample of 209 parents. A panel of experts then revised the scales to make them relevant to Quebec families and to health promotion. Data from the new and revised scales were collected on 509 Quebec couples (1,018 spouses) and were clustered separately by gender, using K means. The procedure classified all respondents into family types that paralleled the original typology. Discriminant analyses indicated that family profile variables significantly distinguished family types. Comparisons with family, stress, and health variables further differentiated among the types and expanded their meaning. The study demonstrates a method for redefining and extending family data in health research with different cultural groups.

Adult↗

Family Nursing Network: Scottish initiative to support family care.

This article describes the foundation in 1997 of a Family Nursing Network (FNN) in Edinburgh involving nurses from local trusts and Scottish universities. The purpose of the FNN is to support the use of family nursing in practice, research and education. Family nursing proposes that health care should focus on the needs of the family as a unit rather than as the context of care for a family member with health needs. Family nursing is not common practice in the UK but some nurses have found it highly relevant to their care. The World Health Organization (WHO) promotes the family health nurse as an important component of health care in the community for the future and family nursing could well provide the foundation for such practice. Definitions of the family and family nursing are offered, the conceptual background is analysed and the work achieved by the FNN is reviewed. The authors write on behalf of the FNN.

Community Networks↗

The family as the object of care in family practice.

Family practice as a specialty is based upon the continuing and comprehensive care of families. Much emphasis has been placed upon care of the "whole-person" and the family, but actual practice still reflects a predominant focus on the individual, rather than the family, as the object care. There is an important conceptual and practical difference between caring for the individual in the context of the family and caring for the family itself as the patient. Both approaches are required for family medicine to realize its potential in the ongoing care of families. This paper outlines some useful concepts and principles which can help to increase the capability of family physicians to deal with the common problems of individuals and their families.

Behavioral Sciences↗

[The development of family therapy concepts--interrelationship between patients' and therapist's family].

During the last 20 years family therapy has well been established as a supplementary or alternative therapy to individual therapy within child and adolescent psychiatry. Along with the further development and the change of concepts of family therapy there has been a greater interest in the interrelationship within the triad of patient-family-therapist, too. In the training of family therapists the meaning of the family of origin has been recognized. The implications of the therapeutic professional activities on the psychiatrist's family has not yet thoroughly considered, however. In the present paper the development and the characteristics of some main concepts of family therapy are described. Illustrated by a case report the influences of family oriented therapeutic activities over the therapist's family are presented. Finally the interrelationship between the patient's and the therapist's family are discussed as a constructive element of a mutual learning process.

Adolescent↗

Population differences in the pattern of familial aggregation for sex hormone-binding globulin and its response to exercise training: the HERITAGE Family Study.

Familial influences were investigated for baseline sex hormone-binding globulin (SHBG) and its response (post-training minus baseline) to a 20-week endurance exercise training program. One hundred, eighty-four participants from 85 Black families in the HERITAGE Family Study (HERITAGE) were analyzed using a familial correlation model. Baseline SHBG values and the training response were adjusted for the effects of age, baseline BMI, testosterone, estradiol, and fasting insulin levels (plus baseline SHBG values for the training response) within four sex-by-generation groups prior to genetic analysis. Baseline SHBG levels were influenced by appreciable familial effects (maximum heritability h(2) = 54%) with neither spouse resemblance nor sex and generation differences in the correlations. This estimate is only slightly, but not significantly, smaller than the heritability of 64% reported previously in 428 participants from 99 White families in HERITAGE. In contrast to the modest familial effects for the training response in White participants in HERITAGE (h(2) = 25%), there were no evidence of familial resemblance in Blacks in the current study. Furthermore, there was heterogeneity for both baseline SHBG and the training response between Blacks and Whites in the pattern of familial aggregation. In conclusion, baseline SHBG levels are influenced by significant familial effects in both Blacks and Whites, independent of the effects of age, sex, and baseline values of BMI, testosterone, estradiol, and fasting insulin levels. Whereas modest familial effects were detected for the training response in Whites, the lack of similar effects in Blacks may be due to the smaller sample size.

Black People↗

Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.

Idiopathic torsion dystonia is characterized by involuntary twisting movements and postures. One molecularly defined form with generalized dystonia has been shown to be autosomal dominantly inherited with reduced penetrance in chromosome 9q34.1, especially in Ashkenazi Jewish families, while other generalized families from Europe and families with other subtypes of dystonia have been excluded from linkage to this locus. Genealogical studies suggest that the much more frequent focal dystonia follows an autosomal dominant inheritance with reduced penetrance as well. For our study, 488 patients with focal dystonia, without a tendency for generalization, were interviewed for their family history. Evidence for hereditary disposition was found in 88 individuals. In a second step, all available family members of 17 of the 488 index patients (chosen for cooperation) were clinically examined. Objective diagnosis of affected relative was established in 13 families, whereas only 4 of the 17 index patients had previously admitted a positive family history. Furthermore, a large three-generation family with focal dystonia linked to chromosome 18p (linkage data described elsewhere) was identified. The familial pattern of all reported families is compatible with autosomal dominant inheritance with reduced penetrance. Assessment only on patients' report leads to underestimation of the frequency of familial idiopathic focal dystonia.

Adult↗

Mapping protein family interactions: intramolecular and intermolecular protein family interaction repertoires in the PDB and yeast.

In the postgenomic era, one of the most interesting and important challenges is to understand protein interactions on a large scale. The physical interactions between protein domains are fundamental to the workings of a cell: in multi-domain polypeptide chains, in multi-subunit proteins and in transient complexes between proteins that also exist independently. To study the large-scale patterns and evolution of interactions between protein domains, we view interactions between protein domains in terms of the interactions between structural families of evolutionarily related domains. This allows us to classify 8151 interactions between individual domains in the Protein Data Bank and the yeast Saccharomyces cerevisiae in terms of 664 types of interactions, between protein families. At least 51 interactions do not occur in the Protein Data Bank and can only be derived from the yeast data. The map of interactions between protein families has the form of a scale-free network, meaning that most protein families only interact with one or two other families, while a few families are extremely versatile in their interactions and are connected to many families. We observe that almost half of all known families engage in interactions with domains from their own family. We also see that the repertoires of interactions of domains within and between polypeptide chains overlap mostly for two specific types of protein families: enzymes and same-family interactions. This suggests that different types of protein interaction repertoires exist for structural, functional and regulatory reasons.

Binding Sites↗

Two BALB/c anti-arsonate idiotype families: two heavy chain variable regions (Vh) shared with anti-DNP antibodies are used by one family while a Vh similar to anti-GAT antibodies is used by the other.

Amino terminal amino acid sequences were obtained for both the heavy (H) and light (L) chains of seven BALB/c anti-arsonate (Ar) monoclonal antibodies representing the 5AF6 and 3C6 idiotype (id) families described in this strain. 5AF6 family H chains showed strong homology to the germ-line gene sequence for the A strain 36-60 family. However, four to five identical H chain sequence differences for two of these antibodies (5AF6 and 95B5), as well as two previously reported related sequences (92D5, 94B10), suggested they were encoded by a different Vh. The 36-60 family Vh genes have been shown to be identical to the Vh gene of the anti-DNP binding myeloma M460 [Dzierzak et al., J. Immun. 136, 1864-1870 (1986)]. H chains amino acid sequences derived from an id-460+ anti-DNP hybridoma and a germ-line gene differing from the 30-60-like Vh sequence [Dzierzak et al., J. Immun. 136, 1864-1870 (1986)] were found to be virtually identical to the 95B5 and 5AF6 Vh sequences. This suggests that the same two related H chains making up two subsets of the 5AF6 anti-Ar id family are also both used in two subsets of the id-460 anti-DNP response. 5AF6 family L chains were highly homologous to the other Vk2 L chains of the 36-60 family. 3C6 family H chains can be placed in the Vh l group, are unrelated to the described anti-Ar H chain families, and have been placed in a new anti-Ar Vh family, Ars-E. The 3C6 H is similar, however, to a Vh used by a BALB/c anti-GAT idiotype family of antibodies. 3C6 L chains were of the murine kappa chain group, Vk8 and most resembled an L chain from an A strain monoclonal anti-Ar having no defined idiotype.

Amino Acid Sequence↗

Multivariate analysis of familial and non-familial influences for commonality in drug use.

A multivariate behavioral genetic analysis of common legal drug usage was performed on data from 238 Swedish families. By calculating cross-covariances between parents and offspring for pairs of traits, familial and non-familial correlations were computed to determine the extent to which pairs of measures share the same familial and non-familial influences. Factor analyses resulted in a 3- and a 2-factor solution for the familial and non-familial correlations, respectively. This suggests that familial and non-familial influences for drug usage are structured differently. If replicable, these results also suggest that the phenotypic structure reflects familial factors more than non-familial influences.

Adult↗

Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families: An analysis by a Brazilian Hereditary Colorectal Cancer Institutional Registry.

UNLABELLED: The two main forms of hereditary colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). Some families do not meet all the diagnostic criteria for HNPCC or FAP and are classified as familial colorectal cancer (FCC). Little information is available on the spectrum of tumors related to HNPCC and FCC in South America. OBJECTIVE: To describe the frequency of malignant tumors in a group of Brazilian families with HNPCC or FCC in an Institutional Hereditary Colorectal Cancer Registry. MATERIAL AND METHODS: The study included 61 families (29 HNPCC and 32 FCC) between January 1998 and June 2001. HNPCC families were clinically classified according to the Amsterdam Criteria I or II. FCC families were characterized by the presence of at least two individuals with CRC or extra-colonic tumors associated with the HNPCC spectrum, at least one of them being under 50 years of age. RESULTS: In the 29 families with HNPCC, 201 patients with cancer were identified among 1241 individuals (589 men and 652 women). Among the 201 patients 223 tumors were observed: 137 CRC (55 in men and 82 in women) and 86 extra-colonic (37 in men and 49 in women). In the 32 families with FCC, 146 patients with cancer were identified among 1053 individuals (505 men and 548 women); 158 tumors were observed in 146 patients, 75 CRC (33 in men and 42 in women) and 83 extra-colonic tumors (47 in men and 36 in women). The most frequent extra-colonic primary sites among the HNPCC families were: endometrium (26.5%) and breast (26.5%) (women), and stomach (35.1%) (men). Among the FCC families, the most common primary sites were: breast (27.8%) (women), and stomach (44.4%) (men). CONCLUSION: The high frequency of endometrial and gastric cancer found was expected, since these tumors are part of the HNPCC spectrum, but the high frequency of breast cancer requires further molecular investigation to determine a possible hereditary predisposition associated with hereditary CRC.

Adenomatous Polyposis Coli↗

A newly isolated family of short interspersed repetitive elements (SINEs) in coregonid fishes (whitefish) with sequences that are almost identical to those of the SmaI family of repeats: possible evidence for the horizontal transfer of SINEs.

The SmaI family of repeats is present only in the chum salmon and the pink salmon, and it is not present in five other species in the same genus or in other species in closely related genera. In the present study, we showed that another short interspersed repetitive elements (SINEs) family, which is almost identical to the SmaI family, is present in all fishes in the subfamily Coregoninae, being regarded as the most primitive salmonids. This new family of SINEs was designated the SmaI-cor family (SmaI family of repeats in coregonids). The consensus sequence of the SmaI-cor family was found to be 98.6% homologous to that of the SmaI family. Accordingly, it is difficult to explain the high degree of homology between these two families of SINEs by any mechanism other than the horizontal transfer of SINEs. The estimates of the rate of neutral mutation of nuclear genes, comparing chum salmon and European whitefish, confirmed this possibility. Our results strongly suggest that a member(s) of the SmaI-cor family might have been transferred horizontally from one coregonid species to a common ancestor of chum and pink salmon or to these two species independently, to allow subsequent amplification of the SmaI family in their respective genomes.

Animals↗

Variation in the interaction between familial and reproductive factors on the risk of breast cancer according to age, menopausal status, and degree of familiality.

BACKGROUND: Studies have found that reproductive factors might have a variable effect on the occurrence of breast cancer (BC) according to the existence or not of a family history of BC. The effect of a family history of BC on the risk of BC may also vary according to the age at diagnosis and the degree of kinship. This may confound the relation between familial risk and reproductive factors. A combined analysis was performed to study the interaction between familial risk and reproductive factors according to degree of familiality, age at interview and menopausal status. METHODS: The present analysis included 2948 cases and 4170 controls in seven case-control studies from four countries. The combined relative risks were estimated using a Bayesian random-effects logistic regression model. RESULTS: The main effects of reproductive life factors on the risk of BC are in agreement with previous studies. Two-way interactions between subject's age or menopausal status and a family history of BC were not significant. Although the three-way interaction between age, familial risk and parity was not significant, familial risk seemed to be increased slightly for women with high parity compared with women with low parity in the older age group, and seemed to be slightly decreased for women with high parity compared with women with low parity in younger women. The subject's age also appeared to have an effect on the interaction between familial risk and the age at first childbirth (P = 0.1). CONCLUSIONS: A possible influence of reproductive and menstrual factors on familial risk of BC has been suggested previously and was also evident in the present study. Three-way interactions between age, family history and parity or age at first childbirth might exist and they merit further investigation.

Adult↗

Familial lupus erythematosus. Clinical and immunologic features of 125 multiplex families.

Evidence for a genetic susceptibility to systemic lupus erythematosus (SLE) in humans is based on the high concordance rate observed in identical twins and on the relatively high incidence of familial cases. Although recent genetic studies have lead to significant advances in the identification of new susceptibility genes in SLE, no large clinico-pathologic study of familial SLE has been reported to date. In the present study, we describe the main clinical and immunologic features of 125 lupus multiplex families including at least 2 cases of SLE and/or discoid lupus erythematosus (DLE), recruited through a French national survey starting in July 1997. Medical records of all affected members were reviewed by the same investigator, all available family members were interviewed using the same standardized procedure, and blood was drawn for autoantibodies typing. Clinical and immunologic features of 90 probands from multiplex SLE families were compared with those of 100 sporadic SLE patients sharing the same French Caucasian origin. The 125 lupus multiplex families included 282 affected members (2.3 patients per family); of the 125 families, 96 were of French Caucasian origin. One hundred multiplex families included 2 affected relatives, while 25 included 3 or more affected individuals. The relationship between affected members was sibs (45%), parent-offspring (31%), and second-degree (24%). An autosomal dominant mode of inheritance was strongly suggested in 1 extended pedigree with 6 clinically affected members, and a recessive pattern was suspected in 5 other families. No obvious mode of inheritance could be suspected in most of the remainder. Among French Caucasians, sex ratio, mean age at onset, and clinical and biologic SLE-related manifestations were not significantly different in multiplex compared with sporadic SLE cases. The analysis of these 125 multiplex families suggests a genetic heterogeneity that should be considered for ongoing genomic screening.

Age of Onset↗