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PubMed2005

Interpersonal factors and personality disorders as discriminators between intra-familial and extra-familial child molesters.

This article presents the results of research investigating the relation between interpersonal factors and personality disorders and intra-familial versus extra-familial child molesters. The sample contained 41 intra-familial and 43 extra-familial child molesters as well as a matched comparison group of 80 subjects. The analysis of the research results show that interpersonal factors, such as parental sensitivity, trust, and adult romantic attachment, discriminate between intra-familial and extra-familial child molesters. These findings structure the heterogeneous field of child molesters, as intra-familial child molesting seems to be related to relational attitude as well as personality disorders, whereas extra-familial child molesting is mainly related to personality disorders without showing significant deficits in the interpersonal factors that were measured. These results contribute to the explanation of this deviant sexual conduct and to the development and differentiation of the treatment of child molesters.

Adult↗
PubMed1998

Familial clustering of insulin and abdominal visceral fat: the HERITAGE Family Study.

Abdominal visceral fat (AVF) is an obesity-related phenotype thought to be associated with insulin resistance, diabetes mellitus, and atherosclerosis. Significant genetic influences on both AVF and insulin levels have been reported. However, information is lacking as to whether common genetic influences on AVF and insulin levels exist. AVF was assessed by computed tomography scan, and fasting insulin was measured by RIA in 512 members of 98 sedentary Caucasian families participating in the HERITAGE Family Study. Baseline data, collected before exercise training, were used in the present investigation. A bivariate familial correlation model was applied to evaluate whether there are familial influences that are common to insulin and AVF before and after adjustment for total fat mass (FM), and to assess the overall heritability of insulin and AVF. The maximal heritability for AVF, before and after adjustment for total FM, was 42% and 50%, respectively; and for insulin, it was 21%. Interestingly, 29% of the familial influences on insulin were also common to AVF, whereas 14% of the familial influences on AVF were shared by insulin. Furthermore, after AVF was adjusted for total FM, these common familial influences were increased to 48% and 20%. Genes and/or familial nongenetic factors with pleiotropic effects seem to influence both AVF and plasma insulin levels to a certain degree. Genes involved in the regulation of lipid storage and mobilization in the abdominal fat depot are potential candidates for these genetic pleiotropic effects.

Adipose Tissue↗
PubMed1983

Familial brain tumors: studies of two families and review of recent literature.

We studied two families in each of which three or more individuals were affected by brain tumors. In the first family, which had no evidence of neurofibromatosis or tuberous sclerosis, a man, his sister, and her son developed histologically proven gliomas; the man's great uncle was historically reported to have died from a brain tumor, but the exact nature of the tumor was not known. In this family two of the tumors were low grade astrocytomas of the cerebrum, whereas the third was a mixed glioma of the cerebellum. Karyotypic analysis of this tumor showed no marker chromosomes. A second family had a history of an unusual concentration of brain tumors. In one patient the tumor was a histologically verified glioma. Four other patients had historically reported brain tumors, the descriptions of which suggested gliomas. Both families showed involvement of individuals in adjacent generations, although in both instances there were skipped generations. Twins, siblings, or parents and children are the kindred groups affected in most other reported families with multiple brain tumors. The mode of inheritance of brain tumors in these two families and recent literature on the conditions associated with familial brain tumors are discussed.

Adult↗
PubMed1995

Familial acromegaly: a specific clinical entity--further evidence from the genetic study of a three-generation family.

Familial acromegaly is a very rare inherited disorder, characterized by the clustering within a single family of several related cases with somatotroph adenomas and acromegaly. The causes of these dominantly inherited pituitary tumours remain unknown. Although these families have a clinical presentation distinct from that of multiple endocrine neoplasia type 1 (MEN-1), the question of this syndrome as being linked to the MEN-1 locus has remained open. Our aim was to study a three-generation family with cases of acromegaly in a mother and her son, to explore better the clinical presentation of the disease, its pattern of inheritance and to test the hypothesis of a genetic linkage to the MEN-1 locus using closely linked polymorphic genetic markers. The refined analysis of 15 unaffected relatives revealed miscellaneous non-specific endocrine dysfunctions and the presence of multiple lipomata, as noted previously in some cases. Moreover, the notion of acromegalo-gigantism in the maternal grandmother and an incomplete penetrance appeared even more typical, suggesting that familial acromegaly is a specific clinical entity. Finally, under the hypotheses assumed for segregation analysis, no clinical, biological or genetic evidence of linkage to the MEN-1 locus could be retained in this family. However, these conclusions were limited because of incomplete penetrance and uncertain definition of the carrier status. Therefore, we conclude that further identification of the genetic predisposition to familial acromegaly might be obtained from the combined molecular genetic analysis of several families presenting with the same clinical features.

Acromegaly↗
PubMed1999

At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family.

Recent studies have mapped two susceptibility loci which appear to account for familial multinodular goitre (MNG1) and a variant of familial papillary thyroid cancer (PTC), with associated multinodular goitre (TCO). A Tasmanian family (Tas1) has been identified with an autosomal dominant form of PTC. This study has examined the MNG1 and TCO loci to determine if they are similarly predisposing the Tas1 family to PTC. Linkage analysis using identical microsatellite markers described in the two previous studies was used to determine the significance of these loci in the Tasmanian family. The resultant LOD scores were sufficiently negative using multipoint parametric analysis to exclude these two loci from involvement in the Tasmanian family. In addition, six candidate genes, RET, TRK, MET, TSHR, APC and PTEN were also excluded as susceptibility genes in Tas1 by using microsatellites that are positioned in or in close proximity to these genes. These results suggest that there are at least three susceptibility genes that predispose families to familial PTC.

Carcinoma, Papillary↗
PubMed2006

[A comparative study on family perception between abused children and normal children by Kinetic Family Drawing].

PURPOSE: The study attempted to find family perception differences between abused children and normal children by Kinetic Family Drawing. METHOD: The subjects of the study consisted of two groups, 143 abused who were in the upper 25th percentile, and 150 normal who were in the lower 25th percentile. Collected Kinetic Family Drawings were divided into five dimensions such as actions, human figure characteristics, dynamics, styles and symbols, and they was analyzed with SPSS/WIN 10.0. RESULTS: In the perception about their family in action dimension, their family in figure characteristics dimension, their family in dynamics dimensions, and their family in symbols dimension, there is a sharp contrast between the two groups. CONCLUSION: Putting these results together, abused children feel lower self-esteem and feel more sense of alienation in their family than normal children do. In addition, abused children perceive their parents as negative and aggressive people.

Child↗
PubMed2006

[Genetic markers in four Chilean families with familial Creutzfeldt-Jakob disease].

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a form of transmissible spongiform encephalopathy, in which a prion protein (PrP Sc) accumulates in the brain of affected individuals. Chile has a prevalence of CJD that is more than twice than in the rest of the world and has the highest rate of familial forms. These later forms are associated with the heterozygocity of codon 200 of PrP protein gene. AIM: To search susceptibility genetic markers of CJD in members of families affected by CJD. MATERIAL AND METHODS: A blood sample was obtained from 50 individuals pertaining to four families affected by CJD. DNA from peripheral mononuclear cells was amplified by polymerase chain reaction and sequenced for the gene that codifies PrP protein. RESULTS: In family A, 21 of 23 members were homozygotes for codon 129 (Met/Met) and eight were simultaneously heterozygotes for codon 200 (Glu/Lys). In family B, six of nine members were homozygotes for codon 129, five were heterozygotes for codon 200 and four had both mutations. In family C, the four analyzed subjects were homozygotes for codon 129 and two were simultaneously heterozygotes for codon 200. In family D, nine of 14 members were homozygotes for codon 129 and two were simultaneously homozygotes for codon 200. No family had polymorphisms for codon 219. CONCLUSIONS: Thirty two percent of analyzed subjects were homozygotes for codon 129 and heterozygotes for codon 200, condition that defines the genetic susceptibility to acquire CJD. The dominant tendency of these genotypes could explain the higher incidence of CJF in Chile.

Amino Acid Sequence↗
PubMed1993

Clinical and genetic studies of renal cell carcinomas in a family with a constitutional chromosome 3;8 translocation. Genetics of familial renal carcinoma.

OBJECTIVE: To describe the clinical course and genetic studies of renal carcinoma in members of a family with the constitutional chromosome translocation, t(3;8) (p14;q24). DESIGN: A follow-up study that updates our 1979 report of renal carcinoma in 10 of these relatives. SETTING: A cancer center and university hospital. PATIENTS: Members of the family, including five carriers of the 3;8 translocation who were in remission of renal cancer. MEASUREMENTS: Clinical follow-up of the family and genetic analyses of the renal cancer specimens of three patients. RESULTS: Renal carcinoma recurred in all five patients in the family at 1 to 16 years of follow-up. Three patients have died of renal cancer, and two are in a second remission. The renal cancers from three family members consistently reveal loss of the entire derivative chromosome 8, which bears the chromosome 3p segment spanning band p14 to the telomere. In contrast, no genetic change was detected in the derivative chromosome 3 or in normal chromosomes 3 and 8. CONCLUSIONS: This family illustrates the importance of clinical follow-up of patients with a hereditary cancer that can develop at multiple foci and recur over time. The inherited 3;8 translocation and loss of the translocated distal chromosome 3p in tumor specimens of family members may help localize the gene or genes involved in the pathogenesis of both familial and sporadic renal carcinoma.

Adult↗
PubMed1999

[Clinical characteristics, familial distribution and preliminary genetic data in 9 different families with "Brugada's syndrome"].

Clinical electrocardiographic evaluation and complete non-invasive assessment including nuclear magnetic resonance (NMR) are reported for 7 subjects with cardiac arrest (CA), 6 due to ventricular fibrillation (VF) and 1 to ventricular tachycardia (VT). Two more subjects, one with and one without a family history of non-resuscitated sudden death (NRSD), were included. All 9 subjects showed the typical pattern of the Brugada's syndrome (BS), characterized by incomplete right bundle branch block, ST T elevation in V1 V3. We globally evaluated 64 subjects belonging to the 9 families examined, 5 of whom were identified in Bologna, 3 in Florence and one in Parma. BS is characterized in the experience described in the present paper by a family distribution of the ECG pattern in different members. Furthermore, a family distribution of NRSD, even at a young age, was observed. Electrocardiographic features were consistent with variable degrees and aspects of the intraventricular conduction delay (ICD) and of the ST T elevation pattern. NMR has been performed so far in 23 out of 64 members examined by echo, and was normal in 17/23, with only 6 showing pathological aspects such as mild dilatation of the right ventricle, reduced thickness of the right free wall, isolated dilatation of the right ventricular infundibulum and other minor pathological aspects. Preliminary genetic screening (GS), performed on 20 members of three families, was negative for the typical genetic patterns of right ventricular dysplasia (ARVD). In six families, GS is still ongoing. Genetic screening of sodium channel pathology is in progress in the same families. In conclusion, BS has been documented in the present paper as a hereditary syndrome, both for clinical and ECG aspects, associated with CA due to VF, which required an AICD implantation, at least in symptomatic subjects. There may exist a CONGENITAL form of BS due to pathology of sodium channels, without a demonstrable structural heart disease and an ACQUIRED form of BS secondary to an initial ARVD. From the clinical point of view, a complete evaluation, including serial ECG, pharmacological testing and programmed electrical stimulation of other subjects in the families, may be important in preventing sudden death, mainly in symptomatic subjects who always require an implantable cardioverter defibrillator.

Bundle-Branch Block↗
PubMed2001

[Results of molecular diagnosis in 30 Austrian families with familial adenomatous polyposis].

Familial adenomatous polyposis is a dominantly inherited precancerous condition of the colorectum. The isolation of the responsible gene has facilitated the search for mutation in affected individuals and risk estimation for family members. The aim of our study was the assessment of the disease by molecular biological methods in order to estimate the risk for family members. Blood probes from 30 non-related Austrian families (44 persons affected, 61 at risk) were examined for detection of a defect in the adenomatous polyposis gene by means of the protein truncation test and, if necessary, by linkage analysis. The protein truncation test led to successful identification of the defect gene in 66.7% (20/30 families). In 3 families, the presymptomatic difference between mutation carriers and healthy subjects could only be assessed by linkage analysis. Genetic diagnosis enabled us to detect the disease before the onset of clinical symptoms in 16 persons at risk, 37 could be identified as genetically healthy. In 8 persons at risk out of 5/30 families we were unable to identify a defect gene by the methods used until now. In conclusion, we have succeeded in establishing genetic diagnosis of familial adenomatous polyposis using the protein truncation test in Austria. Our method of genetic risk estimation is an important step in Austria towards earlier diagnosis and well-timed therapy management, and helps to exclude persons at risk who are genetically healthy from the laborious screening program.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

Familial arthropathy with camptodactyly: reports of two families.

Familial association of congenital camptodactyly and arthropathy without evidence of concurrent inflammation has an autosomal recessive pattern of inheritance. We describe four children born to consanguineous parents in two families with congenital camptodactyly and polyarthropathy which were misdiagnosed and treated as juvenile rheumatoid arthritis (JRA) for some time. The siblings in the second family also had fibrosing pleuritis. Histopathological examination of the synovial tissues of the children in the first family revealed synovial hypertrophy and presence of multinucleated giant cells with minimal inflammation and vasculitis. On the other hand, prominent fibrosis with no inflammation was present in the synovial tissue of the elder boy in the second family. Thus, while the children in the first family had the phenotypic characteristics of congenital familial hypertrophic synovitis, the latter siblings probably represent a form of the familial fibrosing serositis.

Arthritis, Juvenile↗
PubMedDate not supplied

[Longitudinal study of three families with familial Parkinson's disease].

BACKGROUND: Familial Parkinson's is a variant of Parkinson's disease (PD) transmitted generationally with an early onset. OBJECTIVE: Describe the clinical disease characteristics and its 18 year evolution among families in Colima presenting familial PD. MATERIALS AND METHODS: We determined disease diagnosis, evolution and hereditary pattern. The UPDRS system was used to follow the longitudinal course of the disease. Descriptive statistics were carried out using means and percentages. RESULTS: Three families were studied, with a total of 51 subjects aged 29 +/- 22 years spanning 4 generations. Thirty-seven percent of studied subjects displayed familial PD, with disease onset at 24 +/- 9 years of age. The highest UPDRS value was 175. Disease transmission with a dominant autosomic heredity pattern was shown. One hundred percent of first and second generation members from family number 1 displayed the disease. CONCLUSIONS: The three families displayed early onset PD and rapid progression, coinciding with described characteristics of type 1 familial Parkinsonism (PARK1). This disease is caused by the Ala53Thr mutation of the alpha-synuclein gene.

Adolescent↗
PubMed1985

Familial myasthenia gravis: a study of three families.

Six patients suffering from familial myasthenia gravis belonging to three different families are described. Three brothers are classified as having familial limb-girdle myasthenia and the other three patients, belonging to two other families, are classified as having familial congenital myasthenia. The clinical features, HLA antigen typing, autoantibody screening and anti-acetylcholine receptor antibodies were analysed. The variability of this condition from family to family is exemplified in this series and confirms the heterogeneous nature of familial myasthenia gravis.

Adult↗
PubMed1982

Sources of family size attitudes and family planning knowledge among rural Turkish youth.

Family planning programs in developing countries may have unexpected and long-term impact on youth in terms of their own later fertility behavior. This paper presents data indicating the effect of an adult-oriented family planning program on the family size attitudes and fertility-related knowledge of rural Turkish youth. Unmarried males and females living in villages exposed to different levels of family planning activities, as well as those in a control area, were sampled. A multivariate approach to the analysis was used to control for demographic and socioeconomic characteristics and for certain psychological variables. Females desire fewer children than males and know more about contraception, particularly the IUD. The hypothesis of indirect learning as a result of the adult-oriented family planning program, is confirmed for females, but not for males. The findings have implications for both program planning and for a more accurate measurement of the impact of family planning programs.

Adolescent↗
PubMed1999

The effects of family structure and SES on family processes in early adolescence.

This study investigates parent-adolescent relationships in early adolescence, focusing on the effects of dyadic communication, family cohesion, family structure, and SES on family conflict in three ethnic groups: African-American (n =1886), Mexican-American (n =2657), and Euro-American (n =3052). Sixth, seventh and eighth grade girls and boys completed questionnaires and results were analysed using independent samples t -tests and multiple regression. Results showed 3-year increases in family conflict in all three ethnic groups. There were significant differences in scale scores on conflict, communication, and family cohesion between nuclear and single-parent families. Some ethnic and gender differences were also found. Discussion focuses on the implications of the findings for family life.

Adolescent↗
PubMed1996

Family climate and behavior in families with conduct disordered children.

The aim of this exploratory study was to investigate mothers' perceptions of family climate in families with a conduct disordered child in comparison with families with a normal child. Mothers in 19 families with an independently diagnosed conduct disordered child and their 19 matched comparison mothers completed the Moos Family Environment Scale. In addition 9 mothers and their conduct disordered children and their matched comparisons were video-taped interacting in their homes. Mothers with a conduct disordered child perceived the family climate as less cohesive, less encouraging of the expression of feeling and more conflictual than their counterparts. The same mothers also perceived families to be more control oriented and less organized than their matched controls. Independent behavioural observations supported the view that the mothers with conduct disordered children were control oriented.

Child↗
PubMed2005

Is a family equal to the sum of its parts? Estimating family-level well-being for cost-effectiveness analysis.

Cost-effectiveness (CEA) analysis of health interventions focuses primarily on individual-level costs and benefits. However, health interventions intended for individuals often have implications for other members of an individual's family and the overall functioning of the family. While researchers have assessed the effects of health interventions on multiple family members, CEA has not routinely incorporated measures of effectiveness or costs from multiple family members. We could imagine, however, that CEA might over- or under-estimate the effects of health interventions if they are limited to individuals targeted by the intervention. Family-level CEA would consider the well-being of and costs borne by multiple family members in response to an individual-level intervention, and potentially lead to more appropriate resource allocation. Using the health plan as a working frame of reference, we explore conceptual issues related to estimating effectiveness at the level of the family for use in CEA.

Cost of Illness↗
PubMed2006

Why does it run in families? Explaining family similarity in help-seeking behaviour by shared circumstances, socialisation and selection.

Why do contact frequencies with general practice of family members resemble each other? Many aspects related to the clustering of health-care utilisation within families have been studied, but the underlying mechanisms have not been addressed. This article considers whether family similarity in contact frequency with general practice can be explained as (a) a result of shared circumstances, (b) through socialisation, and (c) through homogeneity of background characteristics. Data from the second Dutch national survey of general practice were used to test these mechanisms empirically. This survey recorded all consultations in 2001 for 104 general practices in the Netherlands, serving 385,461 patients. Information about socio-demographic characteristics was collected by means of a patient survey. In a random sample, an extended health interview took place (n=12,699). Overall, we were able to show that having determinants in common through socialisation and shared circumstances can explain similarity in contact frequencies within families, but not all hypotheses could be confirmed. In specific terms, this study shows that resemblances in contact frequencies within families can be best explained by spending more time together (socialisation) and parents and children consulting a general practitioner simultaneously (circumstances of the moment). For general practitioners, the mechanisms identified can serve as a framework for a family case history. The importance of the mechanism of socialisation in explaining similarities in help-seeking behaviour between family members points to the significance of knowledge and health beliefs underlying consultation behaviour. An integrated framework including these aspects can help to better explain health behaviour.

Adolescent↗