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Summary: With limited existing data on hereditary factors in light chain (AL) amyloidosis, we conducted a study of patients with plasma cell dyscrasias or lymphoproliferative disorders in their family history. Among 1621 patients, we identified 44 probands (2·7%) with 52 relatives affected. The most common disorders in family members were multiple myeloma (48%) and AL amyloidosis (18%). Light chain isotype was 100% congruent in families with known clonal immunoglobulin for both members. Despite matching light chain isotype, organ involvement varied between members in families with multiple cases of AL amyloidosis. These findings help generate hypotheses about familial influences in AL amyloidosis. [ABSTRACT FROM AUTHOR]

Background: Preliminary clinical observations show that contemporaneous hereditary breast cancer (CHBC) patients suffered breast cancer at an early age, which requires further analysis.Methods: 38 familial hereditary breast cancer patients (18 CHBC patients and 20 non-CHBC patients) were screened out and 152 non-hereditary breast cancer patients were used as control subjects. Clinical pathologic subtypes, age, tumor location, histological grade, lymph node metastasis, and molecular phenotype expression (ER, PR, HER-2, Ki-67, CK5/6, E-cad, P63, and P120) were compared across all subgroups.Results: The incidence of CHBC was 9.47% (18/190) in breast cancer patients. The average ages of onset of CHBC patients, non-CHBC patients, and non-hereditary breast cancer patients were 49.06 ± 6.42, 60.75 ± 9.95 and 61.69 ± 14.34 respectively; whereas there were no significant differences with respect to pathological type or tumor location. There were significant differences in some histological grading (grade II/III), lymph node metastasis and PR expression between hereditary and non-hereditary breast cancers (P < 0.05; P < 0.05 and P < 0.005, respectively). Significantly different HER-2 expression was observed when comparing all hereditary or CHBC patients with non-hereditary breast cancers (P < 0.05 and P < 0.005, respectively). There were significant differences in E-cad and P63 between contemporaneous hereditary and non-hereditary breast cancers (P < 0.005 and P < 0.05, respectively).Conclusions: CHBC patients accounted for 9.47% (18/190) of breast cancer patients, had earlier disease onset, and showed differences compared to non-hereditary breast cancer patients with respect to molecular phenotype and clinical characteristics. [ABSTRACT FROM AUTHOR]

Clinical relevance: Investigation of refractive errors amongst Swedish schoolchildren will help identify risk factors associated with myopia development.Background: Genetic and hereditary aspects have been linked with the development of myopia. Nevertheless, in the case of 'school myopia' some authors suggest that environmental factors may affect gene expression, causing school myopia to soar. Additional understanding about which environmental factors play a relevant role can be gained by studying refractive errors in countries like Sweden, where prevalence of myopia is expected to be low.Methods: Swedish schoolchildren aged 8-16 years were invited to participate. Participants underwent an eye examination, including cycloplegic refraction and axial length (AL) measurements. Predictors such as time spent in near work, outdoor activities and parental myopia were obtained using a questionnaire. Myopia was defined as spherical equivalent refraction (SER) ≤ -0.50D and hyperopia as SER ≥ +0.75D.Results: A total of 128 children (70 females and 58 males) participated in this study with mean age of 12.0 years (SD = 2.4). Based on cycloplegic SER of the right eye, the distribution of refractive errors was: hyperopia 48.0% (CI95 = 38.8-56.7), emmetropia 42.0% (CI95 = 33.5-51.2) and myopia 10.0%. (CI95 = 4.4-14.9). The mean AL was 23.1 mm (SD = 0.86), there was a correlation between SER and AL, r = -0.65 (p < 0.001). Participants with two myopic parents had higher myopia and increased axial length than those with one or no myopic parents. The mean time spent in near work, outside of school, was 5.3 hours-per-day (SD = 3.1), and mean outdoor time reported was 2.6 hours-per-day (SD = 2.2) for all the participants. The time spent in near work and outdoor time were different for different refractive error categories.Conclusion: The prevalence of myopia amongst Swedish schoolchildren is low. Hereditary and environmental factors are associated with refractive error categories. Further studies with this sample are warranted to investigate how refractive errors and environmental factors interact over time. [ABSTRACT FROM AUTHOR]

Introduction. Drug abuse is a significant problem affecting adolescents and has the most adverse risk of threatening the welfare of adolescents today and in the future, including the existence of hereditary factors and parents. This study aimed to identify the hereditary and parental factors that influence adolescent drug tendencies. Method. Descriptive research design correlation with cross-sectional study approach. Data collection was carried out on 256 teenagers in schools in the city of Banda Aceh, Indonesia. The research variables consisted of dependent variables, namely the tendency to use drugs, and independent variables, namely hereditary factors and parents. The data collection tool was a questionnaire that includes part A of socio-demographic characteristics, including age, sex, number of family members, place of occupation, and education level. Part B was hereditary factors and parental factors. Meanwhile, section C was a questionnaire about drug use trends in adolescents. Result. The results showed that the hereditary variables that influenced the tendency of drug use in adolescents were 51.8%, while the parental variables were 53.9%. The results of the Chi-Square and Multiple Logistic Regression analysis test revealed that there was no significant effect of hereditary factors with a P-value = 0.198 and an OR value of 1.546. Meanwhile, the parental variable showed that there was a significant influence with a pvalue = 0.018 and an OR value of 1.933 indicating that the tendency of drug use in adolescents up to 1.5 times of hereditary factors. As for the parental factor, it can be concluded that the tendency of drug use in adolescents was 1.9 times. [ABSTRACT FROM AUTHOR]

Testicular cancer allocate for only 1% of all male cancers, that 1-2% of them, would be familial. Family history of testicular cancer will be major risk factor. In this study, noticing the fact that familial testicular cancers are rare, we introduce cases of familiar testicular cancer. The first case was a 39-years-old man that came with abdominal enlargement, pain, and painless palpable masses in right testis. Serum tumor markers showed alpha-fetoprotein (AFP) as 373 IU/ml and α-human chorionic gonadotropin (αHCG) as 216 IU/ml. The second case (his brother) was a 35-years-old man came to clinic with painless right testis enlargement. Serum tumor markers were normal. This patient underwent radical orchidectomy. Pathology reported classic seminoma limited to tunica vaginalis. Next, both of patients underwent chemotherapies. This study reveals that in familiar testicular cancer, one of the most important causes will be hereditary factors. For patients' more survival and comfortability, early diagnosis via physical examination, serum tumor markers evaluation and sonography is important. [ABSTRACT FROM AUTHOR]

The last decade has revealed fundamental new insight into the existence of intrinsic molecular subclasses of breast carcinomas. By using immunostaining on archival tissue, we classified tumor pairs from 50 patients with bilateral disease into molecular subgroups (luminal, triple-negative basal-like, and triple-negative unclassified). Synchronous tumors showed a slightly higher rate of concordant pairs than metachronous tumors, and luminal tumors were highly concordant regardless of being synchronous or metachronous (P = 0.001 and P = 0.002, respectively). Metachronous cases had a higher degree of discordance if the time interval was longer than 10 years; this was most pronounced for triple-negative tumors. The relationship found between subtypes of bilateral tumors provides additional evidence for the role of host-related factors in determining the molecular type of breast cancer. [ABSTRACT FROM AUTHOR]

Background Hereditary and environmental factors contribute to the occurrence of atopic dermatitis (AD). However, the interaction of these two factors is not totally understood. Objectives To evaluate the early risk factors for infantile AD at the age of 6 months and to develop a predictive model for the development of AD. Methods In 2005, a representative sample of mother and newborn pairs was obtained by multistage, stratified systematic sampling from the Taiwan national birth register. Information on hereditary and environmental risk factors was collected by home interview when babies were 6 months old. Multivariate regression analysis was applied to determine the risk factors for AD in the infants. Results A total of 20 687 pairs completed the study satisfactorily. AD was diagnosed in 7·0% of 6-month-old infants by physicians. Parental asthma, atopic dermatitis and allergic rhinitis, and maternal education levels were risk factors for AD in infants. Among environmental factors, fungus on walls at home and renovation/painting in the house during pregnancy were significantly associated with early infantile AD. Using these factors, the probability of having infantile AD was estimated and grouped into low, high and very high. With five runs of tests in mutually exclusive subsets of this population, the likelihood of AD for 6-month-old infants was consistent in all the groups with the predictive model. The highest predicted probability of AD was 70·1%, among boys with maternal education levels > 12 years, both parents with AD, renovation and painting of the house during pregnancy and fungus on walls at home. The lowest probability was 3·1%, among girls with none of the above factors. Conclusions This investigation provides a technique for predicting the risk of infantile AD based on hereditary and environmental factors, which could be used for developing a preventive strategy against AD, especially among those children with a family history of atopy. [ABSTRACT FROM AUTHOR]

Familial risks of anxiety have been assessed in small case-control studies, usually based on reported, but not medically verified, anxiety in family members; thus the degree of familial clustering of these diseases remains to be established. The Multigeneration Register, in which all men (sons) and women (daughters) born in Sweden from 1932 onward are registered together with their parents, was linked to hospital admission data. Standardized incidence ratios (SIRs) were calculated as the ratio of the observed to the expected number of cases of men and women with mothers and/or fathers affected by anxiety, compared with men and women whose mothers and/or fathers were not affected by anxiety. A total of 55,642 and 57,196 cases of anxiety were recorded in offspring and parents, respectively. The overall significant SIRs among men and women with a mother, father or both parents hospitalized for anxiety varied between 1.90 and 5.10. Maternal transmission of anxiety was slightly higher than paternal and the highest SIRs were found in the youngest age groups and among those with both parents affected by anxiety. The degree of parental transmission of anxiety was similar for both men and women. This study has provided the first data on age-specific familial clustering of anxiety, based on medically confirmed records. The risks were so high that hereditary factors were considered to be likely to contribute, possibly modified by environmental factors. Age-specific risks tables would be helpful for clinical counseling. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Familial risks of depression have been assessed in small case-control studies, usually based on reported, but not medically verified, depressions in family members; thus the degree of familial clustering of these diseases remains to be established. Methods: The Multigeneration Register, in which all men and women born in Sweden from 1932 onward are registered together with their parents, was linked to hospital admission data. Standardized incidence ratios (SIRs) were calculated as the ratio of the observed to the expected number of cases in men and women with mothers or fathers affected by depression, compared with men and women whose mothers or fathers were not affected by depression. Results: A total of respectively 60,477 and 79,969 depressions were recorded in offspring and parents. In 6.44% of all families, an offspring and a parent were affected, giving a population-attributable proportion of 4.04% and a familial SIR of 2.68. The parental transmission of depression was similar for both men and women (2.72 and 2.66). Conclusions: This study has provided the first data on age-specific familial clustering of depressions, based on medically confirmed records. The risks were so high that hereditary factors were considered to be likely to contribute to depression, possibly modified by environmental factors. Age-specific risk tables would be helpful for clinical counseling. [Copyright &y& Elsevier]

Objective: This study analyzed men and women separately by age at hospital diagnosis of psychotic disorder or schizophrenia and by maternal or paternal disease after taking several possible confounders into account.Methods: The Multigeneration Register, in which all men and women born in Sweden from 1932 onwards are registered together with their parents, was linked to hospital data. This yielded 21,199 male and 19,029 female cases of psychotic disorders in addition to 12,799 paternal and 23,021 maternal cases of psychotic disorders (including schizophrenia). Standardized incidence ratios (SIRs) were calculated as the ratio of observed and expected number of cases among men and women with mothers and/or fathers affected by psychotic disorders or schizophrenia, compared with men and women whose mothers and/or fathers were not affected by psychotic disorders or schizophrenia.Results: The overall significant SIRs among men and women with a mother, father or both parents hospitalized for psychotic disorder varied between 2.86 and 20.30. Maternal transmission of psychotic disorder was stronger than paternal, and the highest SIRs were found in the youngest age groups. Similar results were found when the subgroup schizophrenia was analyzed separately. Maternal or paternal schizophrenia implied higher risks for the offspring than maternal or paternal psychotic disorders.Conclusions: Hereditary factors have a strong influence on the onset of psychotic disorders and schizophrenia. Young people and individuals with both parents affected by these diseases need special attention as their SIRs were particularly increased. [ABSTRACT FROM AUTHOR]

Abstract: In several cancer registration areas, the trends in the incidence and mortality of multiple myeloma (MM) have been rising over the last few decades. Pedigrees studies on families with multiple affected members have supported the hypothesis of a contributing hereditary etiology of MM due to shared genetic factors. The aim of our study was twofold: 1) to assess incidence trends of MM over the period 1961–2003 using national cancer registry data and; 2) to quantify the familial risk of MM using the 2004 update of the Swedish Family-Cancer Database. For men, the age-standardized rates were 4.33 per 100 000 in 1961–65 and 4.79 in 2001–03. The corresponding rates for women were 2.76 and 3.43. In the elderly, MM rates have risen from 28.7 per 100 000 to 36.2 in men, and from 20.2 to 24.5 in women. MM clustered in families with MM (standardized incidence ratio, SIR=2.45), non-Hodgkin lymphoma (SIR=1.34) and chronic lymphocytic leukaemia (SIR=2.45). No association was found for Hodgkin lymphoma and other leukaemias. Significant associations were found for rectal, stomach, cervical, prostate, bladder, endocrine glands and connective tissue malignancies. Our study adds further evidence that the incidence of MM in Sweden has been constant for several decades. The apparent increase observed in the elderly is, at least in part, attributable to improved diagnostics and certification. MM aggregates in families with MM, chronic lymphocytic leukaemia and, to a lesser extent, with non-Hodgkin lymphoma. If environmental factors can be excluded, the pattern of familial risk of MM is consistent with an autosomal dominant mode of inheritance. [Copyright &y& Elsevier]

The authors used the Swedish Family-Cancer Database lo search for evidence/or a genetic predisposition in lung cancer familial risks in offspring were increased for all lung cancer lo 1. 77 when a parent was affected with any lung cancers; Die comparable risk among siblings was 2.15. At young age, risks between siblings were higher than those between offspring and parents for alt histological types of lung cancer. The present data suggest that 1.7% of lung cancers up lo age 68 years are heritable and probably due to a high-penetrant recessive gene or genes that predispose to tobacco carcinogens. [ABSTRACT FROM AUTHOR]

Summary: Multiple primary cancers arise because of inherited or acquired deficiencies, and their causes may depend on the first primary cancer, or they may be entirely independent. We used a nation-wide family dataset to search for evidence for a genetic predisposition to lung cancer. The Swedish Family-Cancer Database includes all Swedes born in 1932 and later with their parents, totalling over 10.2 million individuals. Cancer cases were retrieved from the Swedish Cancer Registry up to year 2000. Standardized incidence ratios (SIR) and 95% confidence limits (CI) were calculated for first and second primary lung cancers by a family history. The incidence of second primary lung cancer was nine times higher among cases with familial lung cancer compare to that of first primary lung cancer. The proportion of multiple primary lung cancer patients with family history for lung cancer was 4.7% (9/190) for men and 6.5% (5/77) for women. Lung cancer patients with a family history of lung cancer were at a significantly increased risk for subsequent primary lung cancer among both men (SIR=9.89, 95%CI 4.48–18.66) and women (SIR=17.86, 95%CI 5.63–42.00). The corresponding SIRs in patients without a family history were 2.04 (95%CI 1.75–2.36) and 5.10 (95%CI 3.99–6.43) for men and women, respectively. The present study suggests that the development from the first primary lung cancer to the second primary lung cancer may be more strongly affected by genetic factor than the first primary lung cancer. [Copyright &y& Elsevier]

This study compared overuse injuries, small abnormalities, and pain alone in different types of skiing and activity levels. Subjects were 45 ski high school athletes aged 15-19 years. We found the back and knees significantly more prone to activity-related injuries and pain than other body regions. Thirty subjects (67%) had low back pain on the first examination, and 17 had pain caused by overuse of the back. This was more frequent among active, young competitive boys in the cross-country skiing group, with mature height less than 99%, than among noncompetitive boys in the same group or among the alpine skiers. Neck pain was reported only by girls. Eight subjects had low back pain related to small abnormalities. The subjects were given counseling about training and physiotherapy. The 1-year follow-up found a significant reduction in back pain due to overuse injuries (from 17 to 3 subjects) and indistinct neck pain (from 10 to 2) but no reduction in pain in those with small abnormalities in the low back. Low back pain was common in young athletes, particularly in cross-country skiers. Excessively rapid progression of training and faulty technique increased back pain complaints from 36% when entering the school to 67% at the first examination. A proper evaluation and treatment of overuse injuries and accurate counseling of training types, volume, and progression reduced the low back pain problems to 29% of subjects 1 year later in spite of a maintained high activity level. A minimum entrance requirement to conditioning seems mandatory for students attending a ski high school. [ABSTRACT FROM AUTHOR]

Familial risks in upper aerodigestive tract cancer have been assessed mainly through case–control studies based on reported but not medically verified cancers in family members. The nationwide Swedish Family-Cancer Database was used to describe the incidence trends for all subsites of upper aerodigestive tract cancer and to calculate standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) for the cancer in 0–66-year-old offspring by cancers in family members. Additionally, SIRs for second primary cancer after upper aerodigestive tract cancers were analysed. SIRs in offspring for all upper aerodigestive tract cancer were not significant when a parent presented with concordant cancer. The population attributable fraction of familial upper aerodigestive tract cancer was 0.43%. Risk for subsequent cancers in men and women after upper aerodigestive tract cancer were increased in smoking, alcohol and other life-style related sites and in skin cancer and non-Hodgkin''s lymphoma. [Copyright &y& Elsevier]

The role of hereditary factors in tumor development has been less well understood for lung cancer than for many other human neoplastic diseases. The nation-wide Swedish Family-Cancer Database was used on 10.2 million individuals and 4524 lung cancers to calculate standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) for histological subtypes of lung cancer in 0–66-year-old offspring by cancers in family members. Additionally, SIRs for second lung cancers were analyzed. SIRs in offspring for all lung cancer were increased to 1.87 (95% CI 1.66–2.10), adenocarcinoma to 2.15 (1.77–2.59) and squamous cell carcinoma to 1.86 (1.39–2.44) when a parent presented with lung cancer. The familial risk was not dependent on diagnostic age. Lung cancer associated with parental rectal, cervical, kidney, urinary bladder and endocrine gland cancer. The population attributable fraction of familial lung cancer was 2.97%. Risks for second lung cancers were increased in men and women after smoking and life style related sites, and after skin cancer, non-Hodgkin''s lymphoma and Hodgkin''s disease. [Copyright &y& Elsevier]

Introduction: The urgency of the problem of depression is due to their high prevalence and severity of consequences. At present, the pathogenetic role of heredity in the course of depressive disorders remains unclear. Therefore, studies related to this problem are designed to identify the relationship between hereditary factors and the characteristics of the clinic of depression. Objectives: The aim was to study the features of the influence of hereditary factors on the clinic of depressive disorders. Methods: clinical-psychopathological, psychometric, genealogical, statistical. Results: Based on the study of clinical, psychometric (Hamilton scale (HDRS)), genealogical data of 87 patients with depression, a high level of family burden of depression at all levels of kinship in the pedigree of patients (73.56%), alcohol abuse (39.08%), the presence of hypertension (54.02%), heart disease (42.53%) and endocrine pathology (14.94%) were identified. Moreover, in the pedigree of the examined most often this pathology was found in relatives of I and II degree of kinship. When comparing the factors of heredity with the clinical structure and features of depression revealed the proportion of correlations of such factors as: observation by a psychiatrist of I and II degree of relatedness (p = 0.01), depressive disordersmainly by II degree of relatedness (p = 0.05), suicidal behavior according to I and II degree of kinship (p = 0.005), alcohol dependence mainly on I degree of kinship (p = 0.03). Selected leading symptom complexes: depressive, asthenic, apathetic, anxiety-phobic, somato-vegetative, hypochondriac. Conclusions: The data obtained should be taken into account in diagnostic and preventive measures. [ABSTRACT FROM AUTHOR]