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Introduction Combined central and peripheral demyelination (CCPD) is a term used to describe a rare condition involving demyelinating lesions of both the central and the peripheral nervous system. Its etiology remains unclear, and a pathogenic role of cell-mediated and/or humoral immunity has been proposed. A number of patients with CCPD are positive to antineurofascin (anti-NF), antigalactocerebroside, and antilactosylseramide antibodies. The relation between CCPD and multiple sclerosis (MS) is unclear. Case report We report the case of a 30-year-old man who was referred for evaluation after having episodes of numbness and gait impairment worsened by intravenous Methylprednisolone and was found to have demyelination in both central and peripheral nervous system. The patient was eventually diagnosed with anti-NF 155 CCPD and received multiple courses of intravenous immunoglobulin without significant improvement, while he remained stable under Rituximab. Interestingly, the patient's father suffered from a mild form of relapsing remitting MS. Conclusion Our case emphasizes that clinicians need to keep in mind the possibility of a coexisting demyelination in both central and peripheral nervous system, even in patients with a family history of MS. The need for a timely diagnosis is imperative since several drugs used in the management of MS can worsen the patient's symptoms in CCPD. This is, to our knowledge, the first reported case of a patient with anti-NF 155 positive CCPD and a family history of MS.

The current study examines the effect of paternal alcohol problems on adolescent use of alcohol and other illicit drugs as a function of maternal communication, as well as adolescent social and coping skills (N = 145). Structural equation modeling (SEM) analyses indicated that adolescents with a paternal history of alcohol problems reported higher levels of problematic communication with their mothers than did adolescents with fathers who were light drinkers or who were non-drinkers. Moreover, problematic maternal communication functioned as a partial mediator for both adolescent negative social skills and self-blame coping skills. Adolescents who reported using self-blame coping skills more frequently also tended to use alcohol more frequently. Findings suggest that these high-risk adolescents might need more intensive and targeted social and psychological services in their schools and communities.

Risk factors associated with diabetes (DM) are to be well studied, and this study was aimed to investigate the family transmission pattern of type 2 DM in South Indian population. A total of 3093 subjects were selected between June 2017 and May 2018. Details on family history of diabetes, treatment, and age at onset of DM were recorded. The subjects are divided into three groups based on family history risk categories maintained as registries. Group 1 (NPDR) (n = 1414) was with no parent diabetes, group 2 (OPDR) (n = 1216) with one parent diabetes, and group 3 (CPDR) (n = 463) was with both parents diabetes. The history of diabetes in siblings was recorded. Diagnosis of diabetes was confirmed based on the history of treatment and by OGTT. In group 2, genderwise comparison showed higher transmission of diabetes from mothers than fathers. Women had more maternal history of diabetes than paternal history [58.1 vs 41.9%; p

Introduction Still a controversial issue, family history is known as a risk factor for the development of Cerebrovascular Diseases (CVD). In this study, we aimed to evaluate the relationship between parental history and risk of CVD in their offspring in Iranian population. Methods Isfahan Cohort Study (ICS) included total 6504 healthy participants which were randomly selected through a two-stage cluster sampling method from three districts. The participants were followed prospectively for 10 years. The diagnosis of CVD were confirmed by expert panelist. Clinically validated history of CVD was established for definition of parental history of CVD. Types of history were categorized into paternal, maternal, both parents, and no history. Results The prevalence of CVD is generally higher among female offspring compared with male ones (P

ObjectivesWe investigated the genetic history of southern African populations with a special focus on their paternal history. We reexamined previous claims that the Y-chromosome haplogroup E1b1b was brought to southern Africa by pastoralists from eastern Africa, and investigated patterns of sex-biased gene flow in southern Africa.Material and MethodsWe analyzed previously published complete mtDNA genome sequences and ~900 kb of NRY sequences from 23 populations from Namibia, Botswana and Zambia, as well as haplogroup frequencies from a large sample of southern African populations and 23 newly genotyped Y-linked STR loci for samples assigned to haplogroup E1b1b.ResultsOur results support an eastern African origin for Y-chromosome haplogroup E1b1b; however, its current distribution in southern Africa is not strongly associated with pastoralism, suggesting a more complex origin for pastoralism in this region. We confirm that the Bantu expansion had a notable genetic impact in southern Africa, and that in this region it was probably a rapid, male-dominated expansion. Furthermore, we find a significant increase in the intensity of sex-biased gene flow from north to south, which may reflect changes in the social dynamics between Khoisan and Bantu groups over time.ConclusionsOur study shows that the population history of southern Africa has been very complex, with different immigrating groups mixing to different degrees with the autochthonous populations. The Bantu expansion led to heavily sex-biased admixture as a result of interactions between Khoisan females and Bantu males, with a geographic gradient which may reflect changes in the social dynamics between Khoisan and Bantu groups over time.

BRCA-mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists.

Family history is an important cancer risk assessment tool, and it is easy to use. The family history is integral in identifying an individual's risk for primary cancer and assists in the assessment of risk for a second primary cancer. For oncology providers, the critical family history is defined as including first- and second-degree family history, maternal and paternal history, type of primary cancer, and age at diagnosis and ethnicity. Family history should be taken at diagnosis and updated periodically. Despite the importance of family history to patient care, there are significant barriers to taking a family history. We review the impact of collecting complete family history data with respect to calculation of cancer risk, recommendations for screening, and prevention strategies and referral for genetic testing.

Garbha is the union of shukra and shonita, it is also called as shadbhavatmak garbha, i.e made up of matruja , pitruja , rasaja, satmyja, aatmyaja and satvaja Bhava. All soft organs are included in matruja bhava, hence we can consider Stana as matruja bhava. In this study,316 cases of breast cancer were staudied with respect to maternal and paternal history of breast cancer in which 81.8 % cases have positive maternal history. Therefore with this it can be said that Stana is considered as matruja bhava.

Background: There are several ways by which aging is identified, of which graying of hair is perhaps the most common way. Nowadays, graying of hairs, which was expected to occur after 40s, can be easily observed among younger age group, even before 20s. The present study aims to estimate the prevalence of graying of hairs and its correlates among young adults in Srinagar, Uttarakhand, India. Methodology: A community-based cross-sectional study was conducted among 384 young adults between 15 and 30-year age group in the urban area of Srinagar tehsil of Pauri district. Graying of hair was assessed on the basis of the number of white hairs on examination of scalp. Results: The prevalence of premature graying of hairs (PMGHs) was found to be 27.3%. Binary logistic regression analysis showed that a paternal history of PMGH, history of smoking, maternal history of PMGH, sunlight exposure, and body mass index were significant predictors of PMGH. Limitations: The factors found associated could be better determined through a follow-up study which could not be done in the current study. The present study was carried in a tehsil of one district of Uttarakhand therefore has limited external validity. Conclusion: The present study highlights the importance of maintaining a healthy lifestyle as well as adequate exposure to sunlight in preventing PMGH.

Background Previous studies have found that the best predictor of individual risk when developing one or several mental and neurocognitive disorders is family history of mental disorder, more specifically, first degree relatives. The estimated risk of developing schizophrenia is of approximately 10% in individuals that present a paternal or maternal risk of psychosis, increasing to a 50% if both parents are affected; in comparison to a 1% risk in general population (Hall, 1994; Hannon et al., 2016). Having a first-degree family member with psychosis is the best individual risk predictor in developing mental or neurocognitive disorders (Bhatia et al., 2016; Thorup et al., 2018). However, literature exploring the role of family history of psychosis on symptoms, cognition, social cognition and metacognition in first-episode of psychosis (FEP) is scarce, and there is a dearth of studies examining the influence of the maternal and paternal history of psychosis independently. Methods The main aim of the present study is to assess the clinical, cognitive, social cognitive and metacognitive variables in people with FEP with family risk, considering the maternal and paternal history of mental disorder separately. As secondary aims, we will assess the clinical, cognitive, social cognition and metacognition variables considering the presence of a maternal and paternal history of psychosis. Methods A transversal, descriptive, observational design was chosen for this study. The sample was composed of people with a recent onset of psychosis, recruited from 10 public centers in Spain. We recruited 186 individuals with FEP between 18 and 45 years of age. We collected information about the diagnosis of mother and father with mental disorders. Symptoms were assed with the PANSS. A battery of questionnaires on metacognition and social cognition variables was included. Neurocognitive functioning was measured. The statistical analysis was done using SPSS. Results Individuals with a maternal history of a mental disorder showed higher scores in delusional experiences (p=0.004) and scored lower in general functioning as measured by the GAF (p=0.029). The individuals with the presence of a maternal history of psychosis scored significantly higher in the positive subscale of the PANSS (p=0.030). Individuals with a paternal history of psychotic disorder scored worse in high expectations and the need for adapting to the others and they had a greater presence of externalizing bias than those without a paternal history (p=0.026). Discussion Results yield that there is a higher prevalence of a maternal history of psychosis than the paternal history of psychosis, and furthermore, these individuals exhibit a specific clinical, cognitive, social and metacognitive profile. This study raises awareness on the different profiles of persons with first-episode psychosis and the influence of the family history on clinical, cognitive, social and metacognitive variables, which should be taken into account when offering individualized early treatment.

Objective Children of parents with depression are two to three times more likely to develop major depressive disorder than children without parental history; however, subcortical brain volume abnormalities characterizing major depressive disorder risk remain unclear. The Adolescent Brain and Cognitive Development (ABCD) Study provides an opportunity to identify subcortical differences associated with parental depressive history. Method Structural magnetic resonance data were acquired from 9- and 10-year-old children (N = 11,876; release 1.1, n = 4,521; release 2.0.1, n = 7,355). Approximately one-third of the children had a parental depressive history, providing sufficient power to test differences in subcortical brain volume between low- and high-risk youths. Children from release 1.1 were examined as a discovery sample, and we sought to replicate effects in release 2.0.1. Secondary analyses tested group differences in the prevalence of depressive disorders and clarified whether subcortical brain differences were present in youths with a lifetime depressive disorder history. Results Parental depressive history was related to smaller right putamen volume in the discovery (release 1.1; d = −0.10) and replication (release 2.0.1; d = −0.10) samples. However, in release 1.1, this effect was driven by maternal depressive history (d = −0.14), whereas in release 2.0.1, paternal depressive history showed a stronger relationship with putamen volume (d = −0.09). Furthermore, high-risk children exhibited a near twofold greater occurrence of depressive disorders relative to low-risk youths (maternal history odds ratio =1.99; paternal history odds ratio = 1.45), but youths with a lifetime depressive history did not exhibit significant subcortical abnormalities. Conclusion A parental depressive history was associated with smaller putamen volume, which may affect reward learning processes that confer increased risk for major depressive disorder.

This study examined the role of parenthood and parental influences on substance use patterns for 710 stimulant users age 18-61 living in the rural Midwest and Mid-south U.S. Longitudinal growth analyses showed that a maternal history of drug use was associated with increased baseline drug use severity, lesser declines in severity, and greater plateau of drug use severity over time. Parental conflict was associated with lesser declines in drug use severity, and drug use severity declined more steeply for participants who were themselves parents. Participants with two parents having a history of alcohol use had a greater baseline severity of alcohol use, with paternal history of drug use associated with lower baseline alcohol use severity. These findings demonstrate the importance of identifying parental influences in evaluating adult substance use, and point to the inclusion of parents in efforts to prevent and treat substance use disorders.Este estudio analizó el papel que desempeñan la paternidad y las influencias de los padres en los patrones de consumo de sustancias de 710 consumidores de estimulantes de entre 18 y 61 años que viven en el Medio Oeste y Centro-Sur rural de Estados Unidos. Los análisis longitudinales de crecimiento demostraron que los antecedentes maternos de consumo de drogas estuvieron asociados con una mayor gravedad inicial de consumo de drogas, una menor disminución de la gravedad y una mayor estabilidad de la gravedad del consumo de drogas con el tiempo. El conflicto parental estuvo asociado con menos disminuciones de la gravedad del consumo de drogas y la gravedad del consumo de drogas disminuyó más abruptamente en los participantes que eran padres. Los participantes que tenían dos padres con antecedentes de consumo de alcohol tuvieron una mayor gravedad inicial de consumo de alcohol, con antecedentes paternos de consumo de drogas asociados con una menor gravedad inicial de consumo de alcohol. Estos resultados demuestran la importancia de reconocer las influencias de los padres a la hora de evaluar el consumo de sustancias de los adultos e indican la inclusión de los padres en los esfuerzos para prevenir y tratar los trastornos por consumo de sustancias.该研究考察了父母角色和家长影响在710位年龄在18到61岁之间生活在美国中西和中南部兴奋剂使用者药物使用模式。纵向成长分析显示母亲药物使用史和药物使用严重度基线增长,严重度较少的降低,以及随时间推移药物使用严重度较大稳定期相关联。家长冲突和药物使用严重度较少降低相关联。药物使用严重度在身为父母的参与者中明显降低。父母双方均有酒精使用史的参与者酒精使用严重度基线较高。而父亲药物使用史和酒精使用严重度较低基线相关联。这些发现表明确认家长影响对于评估成年人药物使用的重要性,并指出要将家长包括在预防和治疗药物使用紊乱的努力中。.

OBJECTIVES Several guidelines recommend universal screening for hypertension in childhood and adolescence. Targeted screening to children with parental history of hypertension could be a more efficient strategy than universal screening. Therefore, we assessed the association between parental history of hypertension and hypertension in children, and estimated the sensitivity, specificity, negative, and positive predictive values of parental history of hypertension for hypertension in children. METHODS The present study was a school-based cross-sectional study including 5207 children aged 10-14 years from all public 6th grade classes in the Canton of Vaud, Switzerland. Children had hypertension if they had sustained elevated blood pressure over three separate visits. RESULTS In children, the prevalence of hypertension was 2.2%. Some 8.5% of mothers and 12.9% of fathers reported to be hypertensive. Maternal history of hypertension (odds ratio 2.0, 95% confidence interval 1.2-3.3) and paternal history of hypertension (odds ratio 2.2, 95% confidence interval 1.4-3.6) were independent risk factors for hypertension in children. Nevertheless, the sensitivity of parental history of hypertension for the identification of hypertension in children was low (from 4% for both parents' positive history up to 41% for at least one parent's positive history). Positive predictive values were also low (between 4 and 5%). CONCLUSION Children with hypertensive parents were at higher risk of hypertension. Nevertheless, parental history of hypertension helped only marginally to identify hypertension in offspring. Targeting screening only toward children with a parental history of hypertension may not be a substantially better strategy to identify hypertension in children compared with universal screening.

Background. Family history of diabetes (FHD) and lifestyle are associated with type 2 diabetes (T2DM), but little is known about the FHD diet interactions. We aimed to analyze the interactions of FHD and lifestyle factors in Chinese T2DM onset.Methods. This was a cross-sectional survey in central urban China (n=1234patients with T2DM andn=8615non-T2DM subjects). The biological interactions, defined by Rothman interactions, between FHD and each dietary factor were analyzed by using the synergy index (S) scores.Results. After adjustment for age, gender, BMI, and WHR, a uniparental FHD (OR=2.84, 95% CI: 2.36–3.42,P<0.001), a paternal history of FHD (OR=2.53, 95% CI: 1.91–3.35,P<0.001), a maternal history of FHD (OR=3.27, 95% CI: 2.67–4.02,P<0.001), a biparental history of FHD (OR=5.26, 95% CI: 2.98–9.31,P<0.001), and a FHD, irrespective of the parent (OR=3.59, 95% CI: 3.08–4.17,P<0.001), were associated with T2DM onset. There were significant interactions between FHD and consuming S=1.54, 95% CI: 1.12–2.12), S=1.51, 95% CI: 1.04–2.17), S=2.17, 95% CI: 1.63–2.88), and no freshly squeezed juice (S=2.25, 95% CI: 1.46–3.49).Conclusions. Risk of T2DM was synergistically affected by FHD and dietary habits. Nutrition educational intervention may decrease the prevalence of T2DM in the Chinese with FHD.

A number of previous studies exploring family history of type 2 diabetes have reported a predominance of maternal diabetes. These studies have not explicitly compared parental history of diabetes across the spectrum of disease onset from youth to later adulthood.Family history data from 11,467 patients with type 2 diabetes were extracted from the RPA Diabetes Centre database. Parental histories of diabetes were compared across a range of age of diagnosis strata (15-30, 30-40, 40-50, 50-60 and 60-70 years). For the young-onset group (diagnosed between 15 and 30 years of age), associations between parental history of diabetes and the presence of cardio-metabolic risk factors and diabetic complications were also explored.For the total cohort and within each age of diagnosis strata, more individuals reported maternal history than paternal history of diabetes. The young-onset group demonstrated the highest prevalence of any parental history of diabetes (60.7%), the highest combined maternal and paternal history (15.8%) and the smallest differential between maternal (25.1%) and paternal (19.7%) history of diabetes. Within the young-onset group, no significant association between parental history and cardio-metabolic risk factors or diabetic complications were identified after a median of 15.0 years of diabetes exposure.Overall, our results demonstrate a consistent maternal excess of diabetes which could be consistent with an underlying epigenetic effect. However, the differential between maternal and paternal history is significantly lower in the young-onset group. Earlier emergence of type 2 diabetes may therefore reflect a different interaction and impact of genetic and environmental factors.

International audience; BACKGROUND: The purpose of the study was to examine the association between family history of major depressive disorder (MDD) and mental health service utilization for MDD. METHODS: Data come from wave 1 (2001-2002) and wave 2 (2004-2005) of the US National Epidemiologic Survey on Alcohol and Related Conditions (NESARC). The AUDADIS was used to determine the presence of lifetime and incident MDD. Participants with a mother, father, grandparent or sibling with MDD were considered to have a positive family history. Mental health service utilization among participants with lifetime MDD was studied. Data were analyzed using logistic regression models adjusted for socio-demographic characteristics (age, sex, education, marital status, family income) and disease severity. RESULTS: Approximately 7940 NESARC participants had lifetime MDD, 54.7% of them had family history of the disorder. Compared to participants with no family history of MDD, those with such family history were two times more likely to access treatment (OR: 2.37, 95% CI: 2.11-2.68). Parental, and particularly maternal history of MDD, was most strongly associated with MDD treatment. LIMITATIONS: Data were unavailable on the timing of family history of MDD and its possible under-report, and differences between participants with treated vs untreated relatives. Institutionalized individuals were not included. CONCLUSIONS: Individuals with parental and maternal history of major depression were two times more likely to receive treatment for MDD than those with no such history. Efforts to increase access to healthcare for those who do not report family history of MDD could prove effective in addressing existing unmet treatment needs.

This study examined the association between parent and family reported history of non-PTSD mental illness (MI), PTSD specifically, and substance use problems, and participant clinical diagnosis of PTSD. Participants were drawn from the US Department of Veterans Affairs Mid-Atlantic Mental Illness Research, Education and Clinical Center (MIRECC) Post-Deployment Mental Health (PDMH) study (n = 3191), an ongoing multi-site cohort study of US Afghanistan and Iraq conflict era veterans. Participants who recalled a father history of PTSD had a 26-percentage point higher likelihood of meeting criteria for PTSD; while participants reporting any family history of PTSD had a 15-percentage point higher probability of endorsing symptoms consistent with PTSD. Mother history of substance use problems was associated with Veteran current PTSD, but results were sensitive to model specification. Current PTSD was not associated with family/parent history of non-PTSD mental illness, mother history of PTSD, or family/father history of substance use problems. Family history of PTSD may increase PTSD risk among veterans exposed to trauma, particularly when a father history is reported. Knowledge of family history could improve clinical decision-making for trauma-exposed individuals and allow for more effective targeting of programs and clinical services.

To assess the relationship between parental smoking and childhood refractive errors in Singapore Chinese children aged 6–72 months recruited through the STrabismus, Amblyopia, and Refractive errors in Singaporean children study. A total of 4164 children were recruited, with a positive response rate of 72.3% (n=3009). Cycloplegic refraction measurements were obtained from all children by trained eye professionals. Parents underwent an interviewer-administered questionnaire with information on demographics, lifestyle, and parental smoking history being obtained. Spherical equivalent readings were obtained for 87.7% of the children. In all, 52.1% were male (n=1375). The overall prevalence of myopia (at least −0.5 D) was 11.0%. Overall, 37.1% of the fathers interviewed gave a history of smoking. Among the mothers interviewed, 9.2% gave a history of smoking, 6.6% had smoked during the child's life, and 2.2% had smoked during the pregnancy. Maternal history of ever smoking, smoking during child's life, and smoking during pregnancy were associated with decreased odds ratio (OR) of childhood myopia (OR 0.50 (P=0.01), OR 0.39 (P=0.01), and OR 0.3 (P=0.14), respectively). Paternal history of smoking was associated with decreased OR of childhood myopia (OR of 0.72 (P=0.02)). In light of this finding of an inverse association between parental smoking and childhood myopia, further studies are suggested to better understand the role of nicotinic acetylcholine receptor pharmacology in ocular development. This may pave the way for the development of targeted treatment strategies for prevention of myopia.

Birth family health history is shared with prospective adopters to help them understand a child's future health risks. But guidelines for health professionals indicate that such third-party information should not be shared without the consent of birth parents. In practice this can be difficult to achieve. Catherine Hill and Maria Edwards' survey of 57 adoptions sought to explore the views and experiences of adopters about the value of this information to both themselves and their child. Absence of information, particularly with respect to paternal history, was common and resulted in adverse consequences for children and an impoverished sense of identity. Adopters felt that lack of information also limited their understanding of the child and therefore their ability to offer therapeutic parenting; they were ‘parenting in the dark’. A majority expressed strong views that it was their child's right to have this information; a minority felt that confidentiality of birth family health information should remain a paramount consideration. These data furnish the debate with an important missing dimension from those whose lives are potentially enriched or impaired by the quality of information shared.

Acne is one complex skin disorders, which can lead to adverse psychological effects. Multiple factors are correlated with risk of acne and several treatments have been explored. The prevalence and risk factors are suspected to be varied in different populations with different genetic backgrounds and lifestyle. Therefore, this study investigated the risk factors, psychological impacts and current treatments of acne in Shanghai area of China by a retrospective questionnaire study. This study showed that the subjects with family history (especially paternal history) were prone to develop severe acne (p

To assess the paternal history of the Mbyá-Guaraní Amerindians of northeast Argentina, we examined the genetic variation in seven Y-chromosome loci: the binary marker M3 at locus DYS199, and six short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, and DYS393). The most striking finding is the high frequency among the Mbyá-Guaraní of Q3 lineages with the usually rare alleles DYS391*11 and DYS393*11, which could be the result of a founder effect, given the recent history of the population.

Several studies have demonstrated that males with a family history of alcoholism (FHP) show less of a response to alcohol (e.g. lower ratings of intoxication) than males without a family history of alcoholism (FHN). The purpose of this pilot study was to determine if FHP females also showed a reduced sensitivity to alcohol compared to FHN females.To determine if FHP females (n=16) were less sensitive to the subjective effects and performance-impairing effects of alcohol compared to FHN females (n=16).The effects of placebo and alcohol (0.25, 0.50, 0.75 g/kg, based on total body water) were evaluated using a double-blind, placebo-controlled outpatient design. Drug effects were assessed using performance tasks, observer ratings of drug effect and subjective ratings of drug effect.There were no differences in breath alcohol levels between FHN and FHP women. FHP women were less impaired by alcohol than FHN women, as shown by DSST scores and observer-ratings. However, FHP women were more impaired on the Digit Recall task after alcohol than FHN women and they tended to have higher ratings of "Good Drug Effect," "Drug Liking" and "Willingness to Take Again." Of note, FHP women reported more dysphoric mood than FHN women in the absence of alcohol administration.The results of the present study suggest that FHP women may have a reduced response to alcohol on some measures, but FHP women report greater positive effects on other measures. Overall, the differences between FHP and FHN women are subtle compared to the previous studies demonstrating a reduced response to alcohol in FHP men.

Background: The prognosis of Borrmann type 4 gastric cancer remains poor today. The relative contributions of genetic factors and nongenetic factors to type 4 gastric cancer are unclear. The study of family history and spousal history of cancer may play an important role in the assessment of causation of this severe gastric cancer. Methods: During the period 1995–1997, 1118 consecutive patients with histologically confirmed gastric cancer (probands), including 113 with type 4 carcinoma, were admitted to the National Cancer Center Hospital. The type of carcinoma, as well as the family history of cancer in first-degree relatives and spouses of the probands, was abstracted from medical records. Family history and spousal history of cancer were compared between type 4 and other types of gastric cancer. Results: While paternal history had no association with type 4 carcinoma compared with other types, maternal history was associated with a fourfold risk [95% confidence interval (CI), 1.6–9.3] of daughters' type 4 carcinoma, but not sons'. Among probands whose wives had a history of gastric cancer, the risks of type 4 gastric cancer were significantly increased, to as high as 13-fold (95% CI, 2.5–65.3). However, husbands' history had no relationship with wives' type 4 carcinoma. No relationship between type 4 carcinoma and family history or spousal history of other cancers was observed. Conclusion: The present study suggested that environmental factors may have a key effect in causing type 4 carcinoma. The findings may be valuable for identifying subjects at high risk of such malignant gastric cancer as Borrmann type 4.

The study aim was to evaluate the association between genetics referrals, training in medical school, residency, or continuing medical education and physician knowledge of hereditary breast and ovarian cancer (HBOC). A survey of 55 questions was administered to 140 physicians evaluating knowledge and practice patterns regarding HBOC. Physicians with genetics training during residency were more likely to recognize that most instances of ovarian cancer are not hereditary (odds ratio (OR) = 3.16; 95 % confidence interval (CI) 1.32, 7.58). Physicians with continuing medical education (CME) training on genetics were more likely to identify that screening can be improved for those with a hereditary mutation (OR = 4.28; 95 % CI 1.32, 13.90). Primary care physicians who frequently referred for genetics were more likely to recognize that maternal history is not more important than paternal history (OR = 2.51; 95 % CI 1.11, 5.66), that screening can be improved for those with hereditary risk (OR = 4.06; 95 % CI 1.08, 15.22), and that females with a hereditary breast cancer risk would have different recommendations for screening than someone without this risk (OR = 4.91; 95 % CI 1.04, 23.25). Our data suggest that training and frequency of genetics referrals may be associated with knowledge of general risk assessment for HBOC.

This essay is influenced by the circumstances in which I find myself. That I am a certain age, that I live in a small island with a health service struggling to provide adequate healthcare to 4.5 million people within the financial constraints of a massive recession, and that the diagnosis and treatment of hypertension in Ireland follows mainly European trends have all shaped the content of what is a personal experience, as the title of this series suggests it should be. It must be accepted, therefore, that the circumstances for diagnosing and managing resistant hypertension in Ireland may differ somewhat from those that pertain in, for example, New York, but I suspect, however, that the principles of management are similar being based on the recommendations of international guidelines. ### Circumstances of Diagnosis Let us say that I am over 60, that my mother had hypertension but lived into her 70s when she died of cancer, and that there is no paternal history of cardiovascular disease. I have no previous history of illness. My lifestyle is, at least by my assessment, healthy in that I do not smoke, enjoy my wine in what might be regarded as slightly above the weekly norm, maintain normal weight, eat sensibly without adding salt to my food, and I exercise daily by swimming in the sea, across from my home, in all weathers. My only medication is atorvasatain 20 mg daily taken more for its vascular protective potential (arising from my belief in the results of the ASCOT [Anglo-Scandinavian Cardiac Outcomes Trial] study in which I was an investigator) than its lipid-lowering properties because my lipids have always been normal. Because of an interest in hypertension, I occasionally, very occasionally, check my own blood pressure (BP). I am surprised 1 day to read on my oscillometric display a figure …

Background Few studies have examined the effects of paternal and maternal history of myocardial infarction (MI), including age at MI, on cardiovascular disease (CVD) risk, particularly among women. Methods and Results We prospectively studied 22 071 men from the Physicians’ Health Study and 39 876 women from the Women’s Health Study with data on parental history and age at MI. Among men, 2654 CVD cases developed over 13.0 years; among women, 563 CVD cases occurred over 6.2 years. Compared with men with no parental history, only maternal, only paternal, and both maternal and paternal history of MI conferred relative risks (RRs) of CVD of 1.71, 1.40, and 1.85; among women, the respective RRs were 1.46, 1.15, and 2.05. For men, maternal age at MI of Conclusions An early history of parental MI (

Objectives Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns with European and Native Americans. We combine a genetic study of Y-chromosome markers with anthropological surveys in order to obtain a portrait of quilombo structure and history in the region that has the largest number of quilombo remnants in the state of Sao Paulo. Methods Samples from 289 individuals from quilombo remnants were genotyped using a set of 17 microsatellites on the Y chromosome (AmpFlSTR-Yfiler). A subset of 82 samples was also genotyped using SNPs array (Axiom Human Origins—Affymetrix). We estimated haplotype and haplogroup frequencies, haplotype diversity and sharing, and pairwise genetic distances through FST and RST indexes. Results We identified 95 Y chromosome haplotypes, classified into 15 haplogroups. About 63% are European, 32% are African, and 6% Native American. The most common were: R1b (European, 34.2%), E1b1a (African, 32.3%), J1 (European, 6.9%), and Q (Native American, 6.2%). Genetic differentiation among communities was low (FST = 0.0171; RST = 0.0161), and haplotype sharing was extensive. Genetic, genealogical and oral surveys allowed us to detect five main founder haplotypes, which explained a total of 27.7% of the Y chromosome lineages. Conclusions Our results showed a high European patrilineal genetic contribution among the founders of quilombos, high amounts of gene flow, and a recent common origin of these populations. Common haplotypes and genealogical data indicate the origin of quilombos from a few male individuals. Our study reinforces the importance of a dual approach, involving the analysis of both anthropological and genetic data.

SummaryTo assess the role of genetic and environmental factors in the predisposition to atherosclerosis, 682 students whose father had suffered a myocardial infarction before the age of 55 (“cases”) and 1312 controls matched for age and sex, were recruited from 14 Universities in Europe. Fibrinogen, factor Vile and PAI-1 were compared between cases and controls across European regions. Fibrinogen and factor Vile were positively correlated with BMI, smoking and contraception. PAI-1 was positively and independently correlated with BMI and waist-to-hip ratio, and negatively with contraception. Factor Vile and PAI-1 were correlated with cholesterol and triglycerides, and fibrinogen was weakly correlated with LDL-cholesterol. After adjustment for covariates and lipids, fibrinogen level was significantly higher in male cases than in controls (2.38 vs 2.29, p

Cumulative life prevalence of atopic disease (any of reported symptoms of asthma/wheezy bronchitis, allergic rhinitis, eczema and urticaria) was studied by means of a questionnaire in 19814 (7-, 10- and 14-year-old) Swedish school children and their parents. Maternal history was found to be twice as common as paternal history. The children of affected mothers contracted atopic disease in the same proportion as the children of affected fathers yielding twice as many affected children with affected mothers than with affected fathers. The strongest parental influence on childhood disease was seen for multiple symptoms and for congruent symptoms with both parents. The number of children with both parents affected was 1.6 times larger than expected. A possible dose-response effect in polygenic inheritance is discussed as well as assumed impact of environmental factors with a tendency to familial clustering.

Background: There is limited evidence for the role of air pollution in the development and triggering of wheezing symptoms in young children. A study was undertaken to examine the effect of exposure to air pollution on wheezing symptoms in children under the age of 3 years with genetic susceptibility to asthma. Methods: Daily recordings of symptoms were obtained for 205 children participating in the birth cohort study Copenhagen Prospective Study on Asthma in Children and living in Copenhagen for the first 3 years of life. Daily air pollution levels for particulate matter 10 ) and the concentrations of ultrafine particles, nitrogen dioxide (NO 2 ), nitrogen oxide (NO x ) and carbon monoxide (CO) were available from a central background monitoring station in Copenhagen. The association between incident wheezing symptoms and air pollution on the concurrent and previous 4 days was estimated by a logistic regression model (generalised estimating equation) controlling for temperature, season, gender, age, exposure to smoking and paternal history of asthma. Results: Significant positive associations were found between concentrations of PM 10 , NO 2 , NO x , CO and wheezing symptoms in infants (aged 0–1 year) with a delay of 3–4 days. Only the traffic-related gases (NO 2 , NO x ) showed significant effects throughout the 3 years of life, albeit attenuating after the age of 1 year. Conclusions: Air pollution related to traffic is significantly associated with triggering of wheezing symptoms in the first 3 years of life.

Twenty-plus years of positron emission tomography (PET) data show that relative to cognitively intact controls, persons with Alzheimer's disease (AD) have reduced 2-[18F]fluoro-2-deoxy-d-glucose (FDG) uptake. This phenomenon is seen in brain regions containing amyloid plaques and neurofibrillary tangles, and supports the assertion that AD brains have reduced glucose consumption (1). From a diagnostic perspective, although the sensitivity of FDG PET in AD approaches that of the clinical impression, because its specificity is limited, PET is not used by itself to diagnose AD. Still, PET can refine the clinical impression, predict which patients with mild cognitive impairment (MCI) will progress to frank AD, and even help identify which normal elderly individuals are at greatest risk of cognitively declining within the next several years (1–3). In this issue of PNAS, Mosconi et al. (4) build upon and extend this line of work. They now report an analysis of PET scans from cognitively intact individuals with a maternal history of AD, a paternal history of AD, or no parental history of AD. PET findings were unremarkable in subjects without an affected parent and in subjects with an AD-affected father. PET scans from those with affected mothers, however, showed reduced parietal, temporal, medial temporal, frontal, and posterior cingulate glucose consumption. At face value, these data suggest that a maternally inherited genetic factor or factors influence brain metabolism.

Aims: The aim of the present study was to evaluate a possible relationship between taste responses to sweet solutions and alcoholic status. Methods: The rated intensity and pleasantness of sucrose taste was compared in male alcoholics (n = 45) and non- alcoholic controls (n = 33). Results: The rated intensity, but not pleasantness, of water taste (0% sucrose) was higher in the alcoholics. The two groups did not differ with respect to the rated intensity or pleasantness of sucrose solutions (1-30%). The proportion of sweet- likers, i.e. subjects rating 30% sucrose as most pleasant, was similar in both groups (the controls: 57.6%, the alcoholics: 62.2%). A sub- group of alcoholics with a paternal history of alcoholism (n = 22) rated the highest sucrose concentration as more pleasant compared to alcoholics without alcoholic fathers. The proportion of sweet-likers among the alcoholics with a paternal history of alcoholism (77.3%) was significantly higher than that found in the alcoholics without a familial history of alcoholism (47.8%). Conclusions: The present results suggest the following: (i) alcohol dependence is not associated with any major alterations in taste responses to sucrose solutions, (ii) sweet liking is a phenotypic marker of male alcoholics with a paternal history of alcoholism.

OBJECTIVE: Previous research has found that alcoholics have a greater preference for sweet solutions than comparison subjects. This study tested the hypothesis that preference for sweet solutions is a marker for alcoholism risk. METHOD: A total of 122 nonalcoholic subjects (59 men) participated. Fifty-eight subjects had a paternal history of alcoholism, and 64 did not. Each subject rated a series of sucrose solutions for intensity of sweetness and degree of preference. RESULTS: Subjects were able to rate accurately the relative intensity of sweetness in the sucrose solutions. Both subjects with and those without a paternal history of alcoholism preferred a 0.42-M sucrose solution, irrespective of gender. CONCLUSIONS: This study failed to support the hypothesis that sweet preference is a marker of alcoholism risk. The sweet preference observed previously among alcoholics may be a consequence of chronic alcohol consumption or other factors associated with heavy drinking.

The reader of Finnegans Wake may feel very much like one of the leaves that Anna Livia Plurabelle1 has carried on her back, coursing from mountain to ocean, subject to the tumult, the calm, the meandering of her journey from birth to death.2 After a turbulent, perambulating and often disorienting odyssey,3 the reader is swept up by Anna Livia’s ‘final’ soliloquy and carried to the eventual peace and calm that comes from the acceptance of death and her passage into the ‘arms’ of her oceanic progenitor.

Maternal and paternal history of breech increase risk equally Much attention has been focused on the consequences of breech presentation and on strategies to minimise risk for both the fetus and the mother. Studies, including the landmark term breech trial, have had a positive effect on clinical practice and set a standard in developed countries of caesarean delivery for persisting breech presentation.1 2 3 Less attention, however, has been focused on why some fetuses deliver in breech position. In the accompanying paper, Nordtveit and colleagues investigate whether the risk of breech delivery can be passed on through generations via both men and women.4 The prevalence of breech presentation decreases through gestation as fetuses mature, and most fetuses move into cephalic position before delivery. The prevalence of breech presentation is 25% at 28 weeks’ gestation and 3-4% at term.5 Risk factors include maternal characteristics (primiparity, contracted pelvis, high maternal age, and uterine abnormality); characteristics of the …

Pelchat and Danowski [Physiol. Behav. 1992;51:1261–1266] reported an association between the ability to taste 6- n -propylthiouracil (PROP) and a parental history of alcoholism. Kranzler et al. [Alcohol Clin. Exp. Res. 1996a;20:1496–1500] previously failed to replicate these findings in a sample of subjects with only a paternal history of alcohol dependence. The present study was conducted to examine this putative association in a sample of subjects that is heterogeneous with respect to parental alcoholism history. Among the 90 alcohol-dependent subjects studied, the proportion of PROP nontasters was comparable to that observed among nonalcoholics. Analysis revealed no association of parental history with PROP taster status, even after controlling for potential confounding variables. We conclude that no reliable association exists between taste sensitivity to PROP and either a diagnosis of alcohol dependence or a parental history of alcohol dependence.

Objective: To determine whether maternal migraine is associated with an increased prevalence of infant colic. Background Childhood periodic syndromes are thought to be early life expressions of the genetic tendency for migraine. Infant colic, i.e. excessive crying in an otherwise healthy infant, may be another such example of an early manifestation of a migraine genetic tendency. Design/Methods: This is a cross-sectional study of infant colic and parental migraine history in general pediatric clinics in San Francisco. To minimize recall bias, mothers were surveyed at their infants9 two-month-old well-child visit, as this is the age when infant colic is most prevalent. Colic was ascertained via parental report using modified Wessel9s colic criteria. Migraine history was obtained by having a physician diagnosis of migraine or a positive screen on IDMigraine. The primary outcome measure was difference in colic prevalence in infants with and without a maternal history of migraine. The Chi-squared test was used to compare differences between groups. Results: One-hundred and sixty-five surveys were collected; data from 154 infant-mother pairs were analyzed. Infants with a maternal history of migraine were 2.6 times as likely to have colic than infants without a maternal history of migraine (28.6% vs. 11.1%, prevalence ratio 2.6 (1.2-5.5); p=0.02). There was no difference in the accuracy with which migraineur mothers perceived their infants9 colic status compared to non-migraineur mothers. Data on paternal history of migraine was available for ninety-three of the infants. Infants with a paternal history of migraine had a trend toward higher prevalence of colic (22.2% vs. 9.5%, prevalence ratio 2.3 (0.6-9.4), p=0.24). Conclusions: Maternal migraine is associated with increased risk of infant colic. As migraine has a strong genetic underpinning, this association suggests that infant colic may be an early life manifestation of migraine. Disclosure: Dr. Gelfand has received personal compensation in an editorial capacity for Journal Watch Neurology. Dr. Thomas has nothing to disclose. Dr. Goadsby has received personal compensation for activities with Allergan, Inc., Amgen Inc, Colucid, MAP Pharmaceuticals, MSD, Neuralieve, Neuraxon, ATI, Boehringer Ingelheim Pharmaceuticals, Inc., Boston Scientific, Coherex, Eli Lilly & Company, Medtronic, Inc., Linde, Bristol-Myers Squibb Company, Pfizer Inc, and Air Products. Dr. Goadsby has received research support from GlaxoSmithKline, Inc., Amgen Inc, MSD, Neuralieve, and Boston Scientific.

Background Family history studies suggest that heritability of ischaemic stroke is greater in females than males, with an excess of affected female relatives of female stroke patients. We hypothesised that these findings might be explained by gender differences in accuracy of reporting of family history of disease. Methods (1) Systematic review of published studies comparing accuracy of reporting of family history of disease by gender. (2) Analysis of data from the Generation Scotland Scottish Family Health Study (SFHS), which collected data from 20 000 participants in Scottish families on participants9 and their relatives9 disease histories, to assess gender differences in offspring-reported parental history of disease, using self-report as the reference standard. Results Our systematic review identified 33 relevant studies: 31 compared accuracy of family history reports by female vs male informants; 13 compared accuracy of reports on female vs male relatives of informants. Both the systematic review and SFHS analysis found that females reported family history of disease more accurately than males. The systematic review found no clear trend in accuracy of family history reporting by gender of relative being reported on, whereas the SFHS analysis demonstrated greater accuracy of reporting about maternal than paternal history of disease. Conclusion Gender differences in heritability of ischaemic stroke may be an artefact of inaccurate family history information.

The European Atherosclerosis Research Study (EARS) is a study of the biological expression of a paternal history of premature coronary heart disease. The study was carried out in 14 centres in 11 European countries, where the offspring of fathers who suffered a documented myocardial infarction before the age of 55 years (cases) were compared with age- and sex-matched controls. In this paper we describe the measurement of plasma cholesteryl esters as biomarkers for the fatty acid composition of the diet in the cases and controls. No significant differences were found. Cholesteryl palmitate, oleate, linoleate and arachidonate were measured in plasma and correlated with plasma lipids and lipoproteins and with life-style variables including body-mass index, alcohol consumption, tobacco and physical activity. The strongest correlations were observed between cholesteryl esters and triglycerides, which are positively correlated with cholesteryl oleate and negatively with cholesteryl linoleate. Apo B was negatively correlated with cholesteryl linoleate and positively with palmitate. Among the other variables, alcohol was positively correlated with cholesteryl oleate and negatively with linoleate, both in males and in females. Futhermore there are differences between regions, with the highest percentages of saturated cholesteryl palmitate measured in Finnish students, the highest percentage of cholesteryl linoleate in Belgium and of cholesteryl arachidonate in Southern Europe.