Family History (family + history)

Distribution by Scientific Domains
Distribution within Medical Sciences

Kinds of Family History

  • detailed family history
  • negative family history
  • positive family history
  • strong family history

  • Terms modified by Family History

  • family history data
  • family history information

  • Selected Abstracts

    Parent,ETH;child agreement and prevalence estimates of diagnoses in childhood: Direct interview versus family history method

    Stéphane Rothen
    Abstract Diagnostic information on children is typically elicited from both children and their parents. The aims of the present paper were to: (1) compare prevalence estimates according to maternal reports, paternal reports and direct interviews of children [major depressive disorder (MDD), anxiety and attention-deficit and disruptive behavioural disorders]; (2) assess mother,child, father,child and inter-parental agreement for these disorders; (3) determine the association between several child, parent and familial characteristics and the degree of diagnostic agreement or the likelihood of parental reporting; (4) determine the predictive validity of diagnostic information provided by parents and children. Analyses were based on 235 mother,offspring, 189 father,offspring and 128 mother,father pairs. Diagnostic assessment included the Kiddie-schedule for Affective Disorders and Schizophrenia (K-SADS) (offspring) and the Diagnostic Interview for Genetic Studies (DIGS) (parents and offspring at follow-up) interviews. Parental reports were collected using the Family History , Research Diagnostic Criteria (FH-RDC). Analyses revealed: (1) prevalence estimates for internalizing disorders were generally lower according to parental information than according to the K-SADS; (2) mother,child and father,child agreement was poor and within similar ranges; (3) parents with a history of MDD or attention deficit hyperactivity disorder (ADHD) reported these disorders in their children more frequently; (4) in a sub-sample followed-up into adulthood, diagnoses of MDD, separation anxiety and conduct disorder at baseline concurred with the corresponding lifetime diagnosis at age 19 according to the child rather than according to the parents. In conclusion, our findings support large discrepancies of diagnostic information provided by parents and children with generally lower reporting of internalizing disorders by parents, and differential reporting of depression and ADHD by parental disease status. Follow-up data also supports the validity of information provided by adolescent offspring. Copyright © 2009 John Wiley & Sons, Ltd. [source]

    Relatively Benign Clinical Course in Asymptomatic Patients with Brugada-Type Electrocardiogram Without Family History of Sudden Death

    Asymptomatic Brugada-Type ECG.Introduction: The incidence of sudden death or ventricular fibrillation (VF) in asymptomatic Brugada syndrome patients with a family history of sudden death is reported to be very high. However, there are few reports on the prognosis of asymptomatic Brugada syndrome patients without a family history of sudden death. Methods and Results: Eleven patients (all male; mean age 40.5 ± 9.6 years, range 26 to 56) with asymptomatic Brugada-type ECG who had no family history of sudden death were evaluated. The degrees of ST segment elevation and conduction delay on signal-averaged ECG (SAECG) before and after pilsicainide were evaluated in all 11 patients. VF inducibility by ventricular electrical stimulation also was evaluated in 8 of 11 patients. Patients were followed for a period of 9 to 84 months (mean 42.5 ± 21.6). The J point level was increased (V1 :0.19 ± 0.09 mV to 0.36 ± 0.23 mV; V2: 0.31 ± 0.12 mV to 0.67 ± 0.35 mV) by pilsicainide. Conduction delay was increased (total QRS: 112.2 ± 6.3 msec to 131 7 ± 6.3 msec; under 40 , V: 42.0 ± 8.5 msec to 52.7 ± 12.7 msec; last 40 msec: 17.4 ± 5.9 , V to 10.4 ± 6.1 , V) on SAECG by pilsicainide. VF was induced in only 1 of 8 patients. None of the patients had syncope or sudden death during a mean follow-up of 42.5 ± 21.6 months. Conclusion: This study suggests that asymptomatic patients with Brugada-type ECG who have no family history of sudden death have a relatively benign clinical course. [source]

    Delay Discounting Behavior and White Matter Microstructure Abnormalities in Youth With a Family History of Alcoholism

    ALCOHOLISM, Issue 9 2010
    Megan M. Herting
    Background:, Youth with family history of alcohol abuse have a greater risk of developing an alcohol use disorder (AUD). Brain and behavior differences may underlie this increased vulnerability. The current study examined delay discounting behavior and white matter microstructure in youth at high risk for alcohol abuse, as determined by a family history of alcoholism (FH+), and youth without such family history (FH,). Methods:, Thirty-three healthy youth (FH+ = 15, FH, = 18), ages 11 to 15 years, completed a delay discounting task and underwent diffusion tensor imaging. Tract-based spatial statistics (Smith et al., 2006), as well as follow-up region-of-interest analyses, were performed to compare fractional anisotropy (FA) between FH+ and FH, youth. Results:, FH+ youth showed a trend toward increased discounting behavior and had significantly slower reaction times (RTs) on the delay discounting paradigm compared to FH, youth. Group differences in FA were seen in several white matter tracts. Furthermore, lower FA in the left inferior longitudinal fasciculus and the right optic radiation statistically mediated the relationship between FH status and slower RTs on the delay discounting task. Conclusions:, Youth with a family history of substance abuse have disrupted white matter microstructure, which likely contributes to less efficient cortical processing and may act as an intrinsic risk factor contributing to an increased susceptibility of developing AUD. In addition, FHP youth showed a trend toward greater impulsive decision making, possibly representing an inherent personal characteristic that may facilitate substance use onset and abuse in high-risk youth. [source]

    Analgesic Effects of Ethanol Are Influenced by Family History of Alcoholism and Neuroticism

    ALCOHOLISM, Issue 8 2010
    Elizabeth Ralevski
    Background:, Although personality factors and family history of substance abuse influence how individuals experience pain and respond to analgesics, the combined effects of those factors have not been extensively studied. The objective of this study was to consider the possible role of personality trait of neuroticism and family history of alcoholism on the experience of pain and their role in the analgesic response to an ethanol challenge. Methods:, Forty-eight healthy subjects participated in this study; thirty-one had a positive family history of alcoholism (FHP), seventeen had a negative family history of alcoholism (FHN). They were also categorized based on their neuroticism (N) scores (low N = 28, and high N = 20). This was a double-blind, placebo-controlled, randomized, within-subject design study of intravenous administration of three doses of ethanol. The testing consisted of 3 separate test days scheduled at least 3 days apart. Test days included a placebo day (saline solution), low-exposure ethanol day (targeted breathalyzer = 0.040 g/dl), and high-exposure ethanol day (targeted breathalyzer = 0.100 g/dl). Noxious electrical stimulation and pain assessments were performed prior to start of infusion and at the 60-minute infusion mark. Results:, The analgesic effect of ethanol was mediated by an interaction between the personality trait of neuroticism and family history. Individuals with family history of alcoholism and high N scores reported significantly more analgesia on low dose of ethanol than those with low N scores. There was no difference in the analgesic response to ethanol among FHNs with low and high N scores. Conclusion:, These findings support the conclusion that neuroticism and family history of alcoholism both influence the analgesic response of alcohol. Individuals with high N scores and FHP have the strongest response to ethanol analgesia particularly on the low exposure to alcohol. [source]

    Using Family History to Assess Women's Cancer Risk in a Parish Nurse Setting

    Carol Cherry
    This health promotion project fulfillled required field study in a graduate public health nursing program. Family history, an important risk factor for many chronic diseases including cancer, is gaining importance as a public health tool. The author used cancer risk assessment expertise to assess women's cancer risk based on family history in two parish settings. Women completed cancer family history using the U.S. Surgeon General's Family Health Portrait. They received pedigree, tailored risk communication and educational materials for cancer prevention/detection. Of 23 women, the majority reported intention to: (i) change behavior to reduce risk; (ii) change screening practice; and (iii) share family history with healthcare providers. One woman at high risk sought formal genetic counseling. Risk information was based on family history only, although multiple factors affect risk. Women's intention to change behavior may not lead to actual change. Population was homogeneous and well educated so results may not be generalizable to other populations. Even though most parish nurses would not have expertise in cancer risk assessment, they can advocate use of the Family Health Portrait. Women respond positively to personalized risk feedback presented in the context of their faith communities. The project facilitated genomic understanding within a public health setting. [source]

    Family History as National History: Peter Henisch's Novel Die kleine Figur meines Vaters and the Issue of Memory in Austria's Second Republic

    ORBIS LITERARUM, Issue 2 2004
    Anthony Bushell
    This article examines an early but key text in Austria's belated examination of its citizens' role in the Third Reich. It shows how Peter Henisch's novel exposed unresolved generational conflicts within a prosperous and stable post-war Austrian society and how the text provided an example of the discussion of uncomfortable societal issues in post-war Austria through the intimate sphere of family life. Simultaneously, the book reflected upon the limitations and distortions inherent in all creative works of art, distortions that Henisch shows are present in the very process of remembering. Crucially, the work continues to invite the reader to associate the integrity of national memory with the integrity of private memory. [source]

    Family History of Psychiatric Disorders and Alcohol and Substance Misuse in Patients with Bipolar I Disorder, Substance Use Disorder, or Both

    Alfredo Sbrana MD
    Family history data were collected on first-degree relatives of 78 patients with bipolar I disorder (BD) and substance use disorder (SUD), 47 with BD only, and 35 with SUD only. The prevalence of psychiatric disorders was significantly higher in first-degree relatives of patients with BD + SUD (64%) and BD (61%) compared with first-degree relatives of SUD patients (20%). The prevalence of alcohol misuse was significantly higher in first-degree relatives of patients with BD + SUD (23.1%) and SUD alone (28.6%) compared to first-degree relatives of patients with BD (4.3%). Our findings suggest that BD and SUD do not share familial risk factors. [source]

    Gail Model Risk Factors: Impact of Adding an Extended Family History for Breast Cancer

    THE BREAST JOURNAL, Issue 3 2008
    Anna Crispo ScD
    Abstract:, An approach commonly used in estimating breast cancer risk is the Gail model. The objective of this study was to evaluate the feasibility and impact of adding extended family history as a new breast cancer risk factor into the Gail model. The data of the present study include cases with breast cancer and hospitalized controls recruited in the National Cancer Institute of Naples (southern Italy) between 1997 and 2000. We compared the first-degree relative (FDR) risk factor (standard Gail model) with the second-degree relative (SDR) information; and the FDR risk factor (standard Gail model) with the combination of FDR and SDR. We computed the c-statistic by comparing the risks found in our population to those in Gail-US population. The concordance for the model with FDR was 0.55 (95% CI 0.53,0.58), the model with SDR shows a modest but significant discriminatory accuracy (0.56, 95% CI 0.53,0.59), and the combination of FDR+SDR gave the concordance statistic of 0.57 (95% CI 0.54,0.60), indicating a good comparison between the two models. The results of our study show that extended family history information could be useful to improve the discriminatory power of the Gail model risk factors. [source]

    Family history of suicidal behaviour: prevalence and significance in deliberate self-harm patients

    Keith Hawton
    Objective:, To investigate whether there are differences between the characteristics of deliberate self-harm (DSH) patients with and without a family history of suicidal behaviour. Method:, In 146 DSH patients, those with and without a positive family history were compared with regard to the nature and repetition of their DSH episodes, and psychological and psychiatric characteristics. Results:, Fifty-two (35.6%) patients had a family history of suicidal behaviour. DSH was more frequent in patients' mothers (17.1%) than fathers (2.7%). Patients with a family history of suicidal behaviour, especially females, had higher state anger scores. Conclusion:, Family history of suicidal behaviour appears to be associated with greater anger. Absence of other associations suggests that family history probably has less implication for individuals who have already engaged in DSH than in contributing to its initiation. Future studies should include patients with violent or life-threatening DSH acts. [source]

    Coexistence of Idiopathic Rolandic Epilepsy and CSWS in Two Families

    EPILEPSIA, Issue 10 2006
    Xavier De Tiège
    Summary:,Purpose: To report two families combining benign childhood epilepsy with centrotemporal spikes (BCECS) and cryptogenic epilepsy with continuous spike,waves during sleep (CSWS) in first-degree relatives. Methods: Clinical, EEG, and cerebral imaging data are described. Results: Family 1: The proband was 3 years old at epilepsy onset. First seizures were convulsive, with centrotemporal spikes on EEG. At age 5 years, he had complex partial seizures, psychomotor regression, and centrotemporal CSWS. [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) showed left parietal hypermetabolism. After several antiepileptic drug (AED) trials, valproate (VPA) and ethosuximide (ESM) induced seizure remission, CSWS disappearance, and psychomotor improvement. Learning disabilities, however, persisted. Family history was remarkable for BCECS in his father. Family 2: The proband was 2 years old at epilepsy onset. First seizures were convulsive, with centrotemporal CSWS on EEG. Despite several AED trials including corticosteroids, focal negative myoclonia, atypical absences, and psychomotor regression occurred, leading to severe mental retardation. FDG-PET showed bilateral parietal hypermetabolism. Vagus nerve stimulator was implanted. Her family history was remarkable for BCECS in her father and febrile convulsions in infancy in her mother. Conclusions: These data suggest the existence of a common genetic basis between BCECS and cryptogenic epilepsies with CSWS. The higher expression in patients with CSWS could be related to other genetic or acquired factors. These data suggest that these epileptic syndromes constitute edges of a continuum. [source]

    BRCA2 gene mutations in Greek patients with familial breast cancer ,,

    HUMAN MUTATION, Issue 1 2002
    Athanasios Armakolas
    Abstract Family history is a well-recognized risk factor for the development of breast cancer. The isolation of BRCA1 and BRCA2 genes, the two major predisposing genes in familial and to early onset breast and ovarian cancer, has resulted to the identification of a large number of families with mutations in these two genes. Despite the large number of distinct mutations detected in both genes, several mutations have been found to recur in unrelated families of diverse geographical origin. We have analyzed 27 Greek patients with familial breast cancer the majority of those having one first and one second degree relatives affected and 28 patients with sporadic breast cancer for BRCA2 germline mutations. The techniques used were single-strand conformation polymorphism analysis (SSCP) followed by sequencing. Furthermore, the clinical presentation and prognosis of BRCA2 associated breast cancer cases was compared to 20 adequately matched for age and date of diagnosis (within one year) sporadic breast cancer patients. We identified three novel BRCA2 mutations (3058delA, 6024delTA, and 4147delG) in the ovarian cancer cluster region (OCCR) and one already known (2024del5) germline BRCA2 gene mutation in five different breast cancer families. The 4147delG mutation was detected in two unrelated patients. BRCA2 germline mutations were correlated with early-onset breast cancer RR=4.77 (95% CI: 0.666-34.463). Although patients with BRCA2 germline mutations did not have a distinct histological phenotype they had an improved overall survival (100% vs 65%). Our findings suggest that there is a cluster of novel mutations in exons 10 and 11 in Greek patients with familial breast cancer. These mutations appear to have a milder clinical phenotype when compared to the rest of the study group. © 2001 Wiley-Liss, Inc. [source]

    Family history of Crohn's disease is associated with an increased risk for Crohn's disease of the pouch

    Bo Shen MD
    Abstract Background: Crohn's disease (CD) of the pouch can occur in patients with restorative proctocolectomy and ileal pouch,anal anastomosis originally performed for a preoperative diagnosis of ulcerative colitis (UC). CD of the pouch was often observed in patients with a family history of CD. The purpose was to determine whether the family history of CD increased the risk for CD of the pouch in patients who underwent restorative proctocolectomy. Methods: A total of 558 eligible patients seen in the Pouchitis Clinic were enrolled, including 116 patients with CD of the pouch and 442 patients with a normal pouch or other pouch disorders. Demographic and clinical variables were included in the study. Multivariable logistic regression analyses were performed. Results: The adjusted multivariate logistic analyses revealed that the risk for CD of the pouch was increased in patients with a family history of CD, with an odds ratio (OR) of 3.22 (95% confidence interval [CI] 1.56,6.67), or with a first-degree relative with CD (OR = 4.18, 95% CI, 1.48,11.8), or with a greater number of family members with CD (OR = 2.00 per family member, 95% CI, 1.19,3.37), adjusting for age, gender, smoking status, duration of IBD, duration of having a pouch, and a preoperation diagnosis of indeterminate colitis or CD. In addition, patients of younger age and longer duration of having a pouch had a higher risk for CD of the pouch. A diagnosis of CD of the pouch was associated with a poor outcome, with a greater than 5-fold estimated increased odds of pouch failure (OR = 5.58, 95% CI, 2.74,11.4). Conclusions The presence of a family history of CD is associated with an increased risk for CD of the pouch, which in turn has a high risk for pouch failure. (Inflamm Bowel Dis 2008) [source]

    Family history of colorectal cancer: A determinant of advanced adenoma stage or adenoma multiplicity?

    Petra A. Wark
    Abstract A family history of colorectal cancer may increase colorectal cancer risk by influencing adenoma growth or enhancing the formation of new lesions. Data of men from the prospective Health Professionals Follow-Up Study who underwent an endoscopy between 1986 and 2004 were used to evaluate whether a family history of colorectal cancer is associated with adenoma multiplicity or advanced adenoma stage (,1 cm, histology with villous component or carcinoma in situ). 21.4% of the 3,881 adenoma patients and 13.9% of the 24,959 adenoma-free men had a first-degree relative with colorectal cancer. Thousand four hundred and ninety-six men were classified as having advanced and 1,507 as having nonadvanced adenomas. Six hundred and twenty-two men had multiple and 1,985 had single adenomas in the distal colon and rectum. A family history of colorectal cancer was similarly associated with advanced and nonadvanced adenomas [multivariable odds ratio (OR) (95% confidence interval): advanced vs. nonadvanced, 0.98 (0.82,1.17), advanced vs. adenoma-free: 1.67 (1.47,1.91), nonadvanced vs. adenoma-free: 1.70 (1.49,1.94)], although potential differences according to adenoma location were seen. A family history of colorectal cancer was more strongly associated with multiple distally located adenomas [odds ratio (95% confidence interval): multiple vs. single, 1.35 (1.09,1.68), multiple vs. no distally located adenomas: 2.02 (1.67,2.44), single vs. no distally located adenomas: 1.49 (1.32,1.68)]. The number of adenomas was also positively associated with a family history of colorectal cancer. Our findings suggest that at the population level, heritable factors may be more important in earlier stages of adenoma formation than at stages of adenoma advancement for at least distally located adenomas. © 2009 UICC [source]

    Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

    Sang Nam Yoon
    Abstract Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. There were 4 (3.5%) clinical HNPCC patients fulfilling the Amsterdam criteria II, and 2 (2/4, 50%) of them carried MSH2 germline mutations. There were also 8 (7.1%) suspected HNPCC (s-HNPCC) patients fulfilling the revised criteria for s-HNPCC, and one (1/8, 12.5%) of them revealed MLH1 germline mutation. In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations. In 113 patients with endometrial cancer, we could find 5 (4.4%) HNPCC patients with MMR germline mutation and 2 (1.8%) clinical HNPCC patients without identified MMR gene mutation. Family history was critical in detecting 3 HNPCC patients with MMR germline mutation, and MSI testing with IHC staining for MLH1, MSH2 and MSH6 proteins was needed in the diagnosis of 2 HNPCC patients who were not clinical HNPCC or s-HNPCC, especially for MSH6 germline mutation. © 2007 Wiley-Liss, Inc. [source]

    The non-Hodgkin lymphomas: A review of the epidemiologic literature

    Dominik D. Alexander
    Abstract The non-Hodgkin lymphomas (NHL) are a heterogeneous group of B-cell and T-cell neoplasms that arise primarily in the lymph nodes. NHL incidence rates in the US doubled between about 1970 and 1990, and stabilized during the 1990s. NHL accounts for ,3.4% of cancer deaths in the US. Although some of the observed patterns in NHL have been related to HIV/AIDS, these conditions cannot fully explain the magnitude of the changes; neither do changes in classification systems nor improved diagnostic capabilities. Studies of occupational and environmental exposures (e.g., pesticides, solvents) have produced no consistent pattern of significant positive associations. Inverse associations with ultraviolet radiation exposure and alcohol and fish intake, and positive associations with meat and saturated fat intake have been reported in several studies; additional studies are needed to confirm or refute these associations. Family history of NHL or other hematolymphoproliferative cancers and personal history of several autoimmune disorders are associated with increased risk of NHL, but are not likely to account for a large proportion of cases. HIV and other infectious agents, such as human herpesvirus 8 and Epstein,Barr, appear to be associated with differing types of NHL, such as some B-cell lymphomas. Future epidemiologic studies should evaluate associations by NHL type, enhance exposure information collected, and elucidate factors that may identify susceptible (or resistant) subpopulations because of genetic, immunologic or other characteristics. The extent to which the etiology of NHL types may differ is important to resolve in ongoing and future studies. © 2007 Wiley-Liss, Inc. [source]

    Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene

    Luz Gonzalez-Huerta MD
    A 70-year-old male presented with very large, thick, tightly adherent, dark-brown scales on the front of his lower extremities. His face, neck, back, abdomen, upper extremities, flexural areas, palms and soles as well as hair and nails were not involved. Family history was negative for similar lesions. Otherwise, the patient had a normal development. Onset of symptoms occurred during childhood with scales on lower extremities with no more additional features. Treatment included emollients exclusively with partial and temporary remission of cutaneous lesions. Recently, the patient had not received topical or systemic medical treatment. Laboratory investigations were within normal limits. The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg -1 protein h -1) which confirmed the diagnosis of X-linked ichthyosis (XLI) . PCR analysis showed deletion of the STS gene, markers DXS1139 and DXF22S1and the 5, end of the VCX3A gene. The patient had scales present on lower extremities only with no medical treatment that corresponded to an unusual clinical manifestation of XLI. Clinical manifestations of XLI are due to a great variety of environmental, genetic and individual factors that should be considered in XLI diagnosis. [source]

    Juvenile hyaline fibromatosis: a case report and review of the literature

    Jean E. Thomas MD
    Background, Juvenile hyaline fibromatosis (JHF) is a rare, inherited condition characterized by tumor-like growth of hyalinized fibrous tissue on the head and neck, joint contractures, and gingival hypertrophy. There may be marked clinical heterogeneity. Methods, We present a case of a 3-year-old Haitian boy with multiple firm nodules on the scalp and chin without joint contractures or gingival hypertrophy. Family history was not available. Results, Biopsy specimens from three scalp nodules were processed with routine and immunohistochemical stains. The matrix was periodic acid Schiff (PAS) and Alcian blue positive. The cellular stromal component was positive for vimentin and scattered factor XIIIa positive cells were found. Osteoclast-like giant cells were also noted, and stained for CD68. Conclusions, Our patient had the nodular growths on the scalp and face that are characteristically found in JHF. Microscopic examination confirmed the diagnosis and showed scattered intracytoplasmic and extracellular eosinophilic globules in three separate biopsy specimens. These were positive with PAS. [source]

    An adult with Prader-Willi syndrome and anorexia nervosa: A case report

    Debra Counts
    Abstract A 39-year-old man with Prader-Willi syndrome presents for evaluation of uncontrolled weight loss. Past history was significant for gastric bypass and prior episodes of intentional dieting. Family history was significant for an alcoholic father and two siblings with anorexia nervosa. The patient was unconcerned about his weight loss despite cachexia and did not want to stop dieting. This presentation of a restrictive eating pattern in a man with a syndrome usually associated with compulsive hyperphagia is the first known report © 2001 by John Wiley & Sons, Inc. Int J Eat Disord 30: 231,233, 2001. [source]

    Breast lymphoma in Sjögren's syndrome complicated by acute monocular blindness

    Helmar F. SOLDEVILLA
    Abstract A 69-year-old hypertensive woman presented with eye and mouth dryness, bilateral parotid gland enlargement, associated with anasarca and proteinuria. Family history was notable for malignancies including breast, nasopharyngeal and colon cancers. Physical exam disclosed hypertension, bilaterally enlarged, firm, non-tender parotid glands, fine bibasilar crackles and bipedal edema. Anti Ro/Sjögren's syndrome antigen A antibody was positive, with negative tests for anti La/Sjögren's syndrome antigen B and anti-nuclear antibody (ANA). Chest radiographs showed basal infiltrates. Sjögren's syndrome associated with glomerulonephritis and interstitial lung disease was diagnosed, and she received pulse methylprednisololone followed by oral prednisone with dramatic improvement. Two months later, while on prednisone 5 mg/day, she returned to the clinic with an enlarging fixed non-tender right breast mass. She underwent modified radical mastectomy of the right breast, and pathologic report revealed diffuse, small cell, non-Hodgkin's lymphoma of the breast; axillary lymph nodes were negative for tumor. She opted for alternative therapy and did not return to the clinic until 7 months later when she developed sudden monocular blindness in the right eye with no other systemic manifestations. Magnetic resonance imaging (MRI) revealed swelling and enhancement of intracanalicular and pre-chiasmatic segments of the right optic nerve and right side of the optic chiasm. Considerations were Devic's disease versus metastases. She received pulse methylprednisolone therapy (1 g/day for 3 days) with partial recovery of vision. She is scheduled for lymphoma chemotherapy to include rituximab. [source]

    Immediate and Long-Term Outcome of Recanalization of Chronic Total Coronary Occlusions

    Eighty-three consecutive patients with 85 coronary total occlusions undergoing coronary angioplasty were retrospectively studied. Patients were divided into two groups according to the occlusion age that was<30 days (subacute total occlusion [STO]: 25 patients; range 1,30 days) or>30 days (chronic total occlusion [CTO]: 58 patients; range 3,144 months). All procedures were carried out using a hydrophilic guidewire. Clinical success, consisting of crossing the lesion, balloon dilatation, stent deployment without complication, was 96% in STO and 81% in CTO. Multiple stepwise logistic regression analysis identified a family history of coronary artery disease (CAD), left anterior descending and right coronary artery occlusions as independent predictors of a successful procedure. No major events occurred during or immediately after the angioplasty. After a mean follow-up of 24 ± 2 months, no difference was found in survival or freedom from myocardial infarction or target vessel revascularization among the STO and CTO patients. Successful recanalization by using a hydrophilic guidewire was achieved in a high percentage of chronic total occlusions with a low incidence of complications and a satisfactory late clinical outcome. Family history of CAD and occlusion of left anterior descending or right coronary arteries are independent predictors of procedural success. [source]

    Historical Perspectives on Family Studies

    Stephanie Coontz
    This article explores the relationship of historical research to contemporary family studies. Family history was influenced greatly by fields such as sociology and anthropology, leading it to make several contributions to those fields in turn. The continuing collaboration of these disciplines can significantly enrich current family research, practice, and policy making. History's specific contribution lies in its attention to context. Although historical research confirms sociologic and ethnographic findings on the diversity of family forms, for example, it also reveals that all families are not created equal. The advantage of any particular type of family at any particular time is constructed out of contingent and historically variable social relationships. Historical research allows researchers to deepen their analysis of family diversity and family change by challenging widespread assumptions about what is and what is not truly new in family life. Such research complicates generalizations about the impact of family change and raises several methodological cautions about what can be compared and controlled for in analyzing family variations and outcomes. [source]

    Family history, self-perceptions, attitudes and cognitive abilities are associated with early adolescent reading skills

    Elizabeth G. Conlon
    This study evaluated a model of reading skills among early adolescents (N=174). Measures of family history, achievement, cognitive processes and self-perceptions of abilities were obtained. Significant relationships were found between family history and children's single-word reading skills, spelling, reading comprehension, orthographic processing and children's perceived reading competence. While children with poor reading skills were five times more likely to come from a family with a history of reading difficulties, this measure did not account for additional variance in reading performance after other variables were included. Phonological, orthographic, rapid sequencing and children's perceived reading competence made significant independent contributions towards reading and spelling outcomes. Reading comprehension was explained by orthographic processing, nonverbal ability, children's attitudes towards reading and word identification. Thus, knowledge of family history and children's attitudes and perceptions towards reading provides important additional information when evaluating reading skills among a normative sample of early adolescents. [source]

    Maximum likelihood inference on a mixed conditionally and marginally specified regression model for genetic epidemiologic studies with two-phase sampling

    Nilanjan Chatterjee
    Summary., Two-phase stratified sampling designs can reduce the cost of genetic epidemiologic studies by limiting expensive ascertainments of genetic and environmental exposure to an efficiently selected subsample (phase II) of the main study (phase I). Family history and some covariate information, which may be cheaply gathered for all subjects at phase I, can be used for sampling of informative subjects at phase II. We develop alternative maximum likelihood methods for analysis of data from such studies by using a novel regression model that permits the estimation of ,marginal' risk parameters that are associated with the genetic and environmental covariates of interest, while simultaneously characterizing the ,conditional' risk of the disease associated with family history after adjusting for the other covariates. The methods and appropriate asymptotic theories are developed with and without an assumption of gene,environment independence, allowing the distribution of the environmental factors to remain non-parametric. The performance of the alternative methods and of sampling strategies is studied by using simulated data involving rare and common genetic variants. An application of the methods proposed is illustrated by using a case,control study of colorectal adenoma embedded within the prostate, lung, colorectal and ovarian cancer screening trial. [source]

    Family history and inherited thrombophilia

    Summary.,Background: It is a common belief that patients with venous thrombosis and a positive family history for venous thromboembolism (VTE) have an increased likelihood of having an inherited thrombophilic defect. Methods: We analyzed the relation between family history, qualified with three different methods, and thrombophilic status in 314 patients with proven VTE. A positive family history (one or more first-degree relatives with VTE) and a strongly positive family history (two or more first-degree relatives with VTE). In 118 of the patients a third, more precise method was analyzed: the family history score, which compares the observed and the expected number of first-degree family members with VTE. Results: Patients with a positive or strongly positive family history had a slightly increased chance of having inherited thrombophilia compared to those without a positive family history. For positive family history this was 42% vs. negative 32%, likelihood ratio 1.3 (95% confidence interval; CI 0.9,2.1) and for strongly positive family history this was 46% vs. negative 34%, likelihood ratio 1.6 (95% CI 0.7,3.3). The family history score correlated with the chance of having inherited thrombophilia [OR 1.23 per score point (95% CI 1.01,1.48)]. However, even with this method the chance of having inherited thrombophilia is lower than 50% in 97% of the cases. Conclusions: Family history of VTE is not a precise tool in clinical practice to identify patients with inherited thrombophilia among patients with VTE. The family history score is more precise, but probably only useful for research purposes and not for daily practice. [source]

    The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE Study,

    N. F. Dowling
    Summary., The aim of this study was to assess, comprehensively, medical and genetic attributes of venous thromboembolism (VTE) in a multiracial American population. The Genetic Attributes and Thrombosis Epidemiology (GATE) study is an ongoing case,control study in Atlanta, Georgia, designed to examine racial differences in VTE etiology and pathogenesis. Between 1998 and 2001, 370 inpatients with confirmed VTE, and 250 control subjects were enrolled. Data collected included blood specimens for DNA and plasma analysis and a medical lifestyle history questionnaire. Comparing VTE cases, cancer, recent surgery, and immobilization were more common in caucasian cases, while hypertension, diabetes, and kidney disease were more prevalent in African-American cases. Family history of VTE was reported with equal frequency by cases of both races (28,29%). Race-adjusted odds ratios for the associations of factor V Leiden and prothrombin G20210A mutations were 3.1 (1.5, 6.7) and 1.9 (0.8, 4.4), respectively. Using a larger external comparison group, the odds ratio for the prothrombin mutation among Caucasians was a statistically significant 2.5 (1.4, 4.3). A case-only analysis revealed a near significant interaction between the two mutations among Caucasians. We found that clinical characteristics of VTE patients differed across race groups. Family history of VTE was common in white and black patients, yet known genetic risk factors for VTE are rare in African-American populations. Our findings underscore the need to determine gene polymorphisms associated with VTE in African-Americans. [source]

    Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

    MOVEMENT DISORDERS, Issue 12 2006
    Alberto J. Espay MD
    Abstract A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society [source]

    Using Family History to Assess Women's Cancer Risk in a Parish Nurse Setting

    Carol Cherry
    This health promotion project fulfillled required field study in a graduate public health nursing program. Family history, an important risk factor for many chronic diseases including cancer, is gaining importance as a public health tool. The author used cancer risk assessment expertise to assess women's cancer risk based on family history in two parish settings. Women completed cancer family history using the U.S. Surgeon General's Family Health Portrait. They received pedigree, tailored risk communication and educational materials for cancer prevention/detection. Of 23 women, the majority reported intention to: (i) change behavior to reduce risk; (ii) change screening practice; and (iii) share family history with healthcare providers. One woman at high risk sought formal genetic counseling. Risk information was based on family history only, although multiple factors affect risk. Women's intention to change behavior may not lead to actual change. Population was homogeneous and well educated so results may not be generalizable to other populations. Even though most parish nurses would not have expertise in cancer risk assessment, they can advocate use of the Family Health Portrait. Women respond positively to personalized risk feedback presented in the context of their faith communities. The project facilitated genomic understanding within a public health setting. [source]

    Prevalence of allergy-related symptoms in Singaporean children in the second year of life

    Teng Nging Tan
    This study describes the cross-sectional prevalence of symptoms associated with eczema (chronic itchy rash), asthma (wheeze), and allergic rhinitis (rhinoconjunctivitis) in 1026 subjects between 18.5 and 23 months old (median age is 21 months) in Singapore. The first 2 yr cumulative prevalence of chronic itchy rash, wheeze, and rhinoconjunctivitis were 22.1% (n = 227), 22.9% (n = 235), and 8.4% (n = 86) respectively. In total, 42.2% (414 of 979) reported ever having any of these symptoms. Eczema, although prevalent, was diagnosed only in 34.4% (n = 78) of children with chronic itchy rash. Children with this eczematous rash were also more prone to wheeze (cOR = 2.0, 95% CI: 1.2,3.0) and rhinoconjunctivitis (cOR = 2.0, 95% CI: 1.4,2.8). Similarly, subjects who reported rhinoconjunctivitis and chronic itchy rash were 2.4 times (95% CI: 1.6,3.6) and 1.4 times (95% CI: 1.0,2.0) more at risk of wheezing respectively. Family history of allergy was a significant risk factor for chronic itchy rash (aOR = 1.8, 95% CI: 1.3,2.4) and wheeze (aOR = 1.7, 95% CI: 1.3,2.4). Thus, symptoms related to allergy were already prevalent during the second year of life. Significant proportions of these symptoms are likely to be due to true atopy as strong relationship with familial history and comorbidity with other potential allergic symptoms were observed. [source]

    Quality of life for Korean patients with vitiligo: Skindex-29 and its correlation with clinical profiles

    Do Young KIM
    ABSTRACT Vitiligo considerably influences the psychological well-being of patients. Disease-induced disfigurement can cause patients to experience a high level of stigmatization, which can lead to psychosocial stresses and negative impacts on quality of life (QOL). This study aims to ascertain the QOL of vitiligo patients compared to patients with other mild skin disorders. We also attempt to study which clinical features of vitiligo are closely related to the patient's QOL. One hundred and thirty-three vitiligo patients and 112 patients with mild skin disorders were analyzed. All participants were asked to fill out questionnaires covering comprehensive clinical profiles and the Korean version of Skindex-29. Statistical correlation between Skindex-29 and each clinical profile were analyzed. The symptom scale of Skindex-29 was significantly lower in vitiligo patients than in controls, but the function scale and the emotion scale were significantly higher in the vitiligo group than in controls. However, the difference in function scales between groups was significant in female patients, but not in male patients. Several clinical profiles, such as duration of disease, severity scores and previous history of treatments, showed close correlations with the function scale. Family history of vitiligo, Köebner phenomenon, patients' perspectives on disease prognosis, and discordance of the severity scores between physicians and patients also influenced the Skindex-29 subscales differently. In conclusion, the present study suggests that patients with vitiligo were highly affected in the functional and emotional aspects of QOL, with some sex differences. Various clinical features may play an important role in the QOL of vitiligo patients. [source]

    Allergy, family history of autoimmune diseases, and the risk of multiple sclerosis

    A. Alonso
    Objective , Previous reports suggested an association between allergy, autoimmunity, and risk of multiple sclerosis (MS), but results have been inconsistent. The present study assessed the association between history of allergy and autoimmune diseases, and the risk of MS. Methods , We conducted a case,control study nested in the Nurses' Health Study (NHS) and NHS II cohorts. A total of 298 women with MS were matched with 1248 healthy controls and 248 women with history of breast cancer. A mailed questionnaire gathered information about history of allergic conditions and autoimmune disorders. Results , History of allergy was not associated with MS risk [odds ratio (OR) 1.0, 95% confidence interval (CI) 0.8,1.4]. As expected, cases were more likely to have a positive family history of MS than controls (OR 9.7, 95% CI 6.1,15.3). A modest association was found between family history of other autoimmune diseases and MS risk (OR 1.4, 95% CI 1.0,1.8). We obtained similar results when we used women with breast cancer as comparison group. Conclusion , Family history of other autoimmune diseases was associated with a higher MS risk, suggesting a common genetic background or shared environmental triggers. There was no clear association between personal history of allergy and risk of MS. [source]