Relevant bibliographies by topics / Familial aggregation

Academic literature on the topic 'Familial aggregation'

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Published: 4 June 2021
Last updated: 20 February 2023

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Journal articles on the topic "Familial aggregation"

1

Houwing-Duistermaat, Jeanine J., Bert H. F. Derkx, Frits R. Rosendaal, and Hans C. van Houwelingen. "Testing Familial Aggregation." Biometrics 51, no. 4 (December 1995): 1292. http://dx.doi.org/10.2307/2533260.

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SUSSER, EZRA, and MERVYN SUSSER. "FAMILIAL AGGREGATION STUDIES." American Journal of Epidemiology 129, no. 1 (January 1989): 23–30. http://dx.doi.org/10.1093/oxfordjournals.aje.a115119.

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3

Guo, S. W. "Familial Aggregation of Environmental Risk Factors and Familial Aggregation of Disease." American Journal of Epidemiology 151, no. 11 (June 1, 2000): 1121–31. http://dx.doi.org/10.1093/oxfordjournals.aje.a010156.

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4

RYBICKI, BENJAMIN A, MICHAEL C IANNUZZI, MARGARET M FREDERICK, BRUCE W THOMPSON, MILTON D ROSSMAN, EDDY A BRESNITZ, MICHAEL L TERRIN, et al. "Familial Aggregation of Sarcoidosis." American Journal of Respiratory and Critical Care Medicine 164, no. 11 (December 2001): 2085–91. http://dx.doi.org/10.1164/ajrccm.164.11.2106001.

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5

Wing, Yun-Kwok, Lei Chen, Siu-Ping Lam, Albert M. Li, Nelson L. S. Tang, Margaret H. L. Ng, Suk-Hang Cheng, et al. "Familial aggregation of narcolepsy." Sleep Medicine 12, no. 10 (December 2011): 947–51. http://dx.doi.org/10.1016/j.sleep.2011.05.007.

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6

Heun, Reinhard, and Sandra Hein. "Familial aggregation of depression, but no familial aggregation of individual depressive symptoms." European Psychiatry 22, no. 1 (January 2007): 16–21. http://dx.doi.org/10.1016/j.eurpsy.2006.09.001.

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AbstractBackgroundFamilial aggregation of major depression might indicate a genetic liability for the disorder. The complete disorder or, alternatively, only some individual symptoms might be inherited. Under the latter condition, an increased frequency of inherited symptoms might consecutively increase the likelihood to reach the threshold for depression in relatives and, thus, might cause the familial aggregation of depression. Up to now, no study investigated the possibility of a relationship between individual depressive symptoms and the familial aggregation of depression.MethodsThe familial aggregation of early-onset depression (age-at-onset < 60 years, EOD) but less so of late-onset depression (LOD) has been shown in this sample. To assess the hypothesis of an inheritance of individual depressive symptoms as a possible cause of the familial aggregation of depression, frequencies of symptoms were compared in relatives of depressed patients and of controls using forward logistic regression analyses.ResultsSome individual depressive symptoms showed clustering in relatives of patients with depression, but the pattern of inheritance was inconsistent, i.e. the clustering of symptoms was different between non-depressed and depressed relatives of patients with EOD and LOD, respectively. No intra-familial clustering of specific depressive symptoms within families of depressed subjects could be observed.ConclusionsDue to the inconsistencies in the clustering of individual symptoms in non-depressed and depressed relatives and the lack of intra-familial clustering, the familial aggregation of depression is unlikely to be caused by the aggregation of individual depressive symptoms. An inheritance of the vulnerability for complete depressive disorders influenced by environmental factors is more likely.
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7

BOLTON, DEREK, FRÜHLING RIJSDIJK, THOMAS G. O'CONNOR, SEAN PERRIN, and THALIA C. ELEY. "Obsessive–compulsive disorder, tics and anxiety in 6-year-old twins." Psychological Medicine 37, no. 1 (September 26, 2006): 39–48. http://dx.doi.org/10.1017/s0033291706008816.

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Background. Previous reports of genetic influences on obsessive–compulsive disorder (OCD) symptoms have suggested moderate heritability. Family history studies of co-morbidity have found familial aggregation with tics, especially for early-onset OCD, and familial aggregation with anxiety disorders.Method. Heritability of OCD and familial aggregation of OCD, tics and anxiety disorders were investigated in a community sample of 6-year-old twins using a two-phase design in which 4662 twin pairs were sampled and 854 pairs were assessed in the second phase by maternal-informant diagnostic interview using DSM-IV criteria.Results. In the multivariate model combined additive genetic and common environmental effects were estimated as 47% for sub-threshold OCD, and the model was unable to distinguish these sources of familial aggregation. There were strong familial aggregations between sub-threshold OCD and tics and between sub-threshold OCD and other anxiety disorders (80% and 97% respectively), although again specific sources could not be distinguished.Conclusions. The findings are consistent with the hypothesis of a tic-related early-onset OCD phenotype, but also with the hypothesis of an anxiety-related early-onset OCD phenotype.
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Kendler, Kenneth S. "Familial risk factors and the familial aggregation of psychiatric disorders." Psychological Medicine 20, no. 2 (May 1990): 311–19. http://dx.doi.org/10.1017/s0033291700017621.

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SynopsisAll major psychiatric disorders aggregate in families. For most disorders, both genes and environmental factors play an important role in this aggregation. While recent work has tended to concentrate on the importance of genetic factors, this report focuses on the potential importance of environmental risk factors which themselves aggregate in families. In particular, this article examines how much of the familial aggregation of a psychiatric disorder may result from the familial aggregation of a risk factor. The model is illustrated and then applied to putative familial risk factors for schizophrenia and depression. The results of the model suggest that if parental loss and exposure to pathogenic rearing practices are true risk factors for depression, then they could account for a significant proportion of the familial aggregation of depression. By contrast, the model predicts that even if obstetric injury and low social class are true risk factors for schizophrenia, they together would account for only a very small proportion of the tendency for schizophrenia to aggregate in families.
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9

Shakhtarina, Svetlana Vasilevna, A. A. Danilenko, and N. A. Falaleeva. "Familial Aggregation in Hodgkin’s Lymphoma." Clinical oncohematology 14, no. 2 (2021): 193–97. http://dx.doi.org/10.21320/2500-2139-2021-14-2-193-197.

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10

Page, Jessica M., Tsegaselassie Workalemahu, Nathan R. Blue, Alison Fraser, Michael W. Varner, Ware D. Branch, and Robert M. Silver. "1036 Familial aggregation of stillbirth." American Journal of Obstetrics and Gynecology 224, no. 2 (February 2021): S642—S643. http://dx.doi.org/10.1016/j.ajog.2020.12.1061.

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Dissertations / Theses on the topic "Familial aggregation"

1

Tahir, Hassaan. "Familial Aggregation of Severe Preeclampsia." Thesis, Linköpings universitet, Statistik, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-73266.

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It has been proved from several studies that the genetic influence has been the most significant factor for having preeclampsia (PE). Still there are many uncertainties about origin and magnitude of the genetic effects as no specific inheritance patterns have been established. In this study, heritage risk of PE is in both the woman’s family and her partner’s family to her risk of PE is examined, along women and men own history with same and different partners. Moreover it is also examined whether timing of onset of PE is also has any impact on familial clustering of PE. Here, we used the population based Danish birth and multi generation registers to identify a cohort of women who have given birth during 1978 to 2008; which consisted of 1,79,69,28 singleton deliveries. This information is linked with pedigree information from the Danish Family Relation Database to define both maternal and paternal relationships. Risk ratios were estimated comparing women with and without various PE histories. It is found that the recurrence risk of a woman suffering from PE is 12.4 with 95% confidence limits (11.9, 12.8). Woman's recurrence risk diminishes only slightly when she changes partner means that particularly maternal genetic factors play the largest role, compared to male partner whose recurrence risk almost diminishes if he changes his female partner. Women and men from families with PE contribute to risk of PE in pregnancies they are involved in. The woman’s family history is still more important compared to man family history of PE; except for increased rick in pregnancies fathered by men who were born to preeclamptic mothers.  The recurrence risk of a women suffering from PE, if she already has suffered from this condition before 34 weeks is found to be very high (RR=25.4 with 95% confidence limits (21.8, 29.1)) with same male partner. It is found that early-onset PE and later-onset varieties have a clear genetic component but the intensity of early onset is stronger than late onset varieties. There are both maternal and paternal genetic contributions to early-onset PE, with the maternal ones seeming to be stronger.
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Pappas, Sylvie Rachelle. "The familial aggregation of agoraphobia." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0017/MQ47079.pdf.

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3

Beaujeux, Timothy Paul. "Protein aggregation in a mouse model of familial motor neurone disease." Thesis, University of Sheffield, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.427349.

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4

Seeley, John Robert. "Comorbidity between conduct disorder and major depression : phenomenology, correlates, course, and familial aggregation /." view abstract or download file of text, 2001. http://wwwlib.umi.com/cr/uoregon/fullcit?p3035576.

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Thesis (Ph. D.)--University of Oregon, 2001.
"Based on data collected from the Oregon Adolescent Depresssion Project (OADP)."--Abstract. Typescript. Includes vita and abstract. Includes bibliographical references (leaves 73-84). Also available for download via the World Wide Web; free to University of Oregon users.
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Brauer, Paula Mae. "Familial aggregation of diabetes, hypertension and cardiovascular conditions in a case-control study of colorectal neoplasia." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape4/PQDD_0023/NQ49836.pdf.

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6

Tisler, Andras. "Analysis of the familial aggregation of hypertension among patients with different types of kidney stone disease." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0022/MQ40818.pdf.

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7

Räsänen, Maija. "Familial aggregation and risk factors for asthma and hay fever among Finnish adolescent twins : a twin family study." Helsinki : University of Helsinki, 2000. http://ethesis.helsinki.fi/julkaisut/laa/kansa/vk/rasanen/.

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8

Andersson, Karin, M. Pokrzywa, Ingrid Dacklin, and Erik Lundgren. "Inhibition of TTR aggregation-induced cell death : a new role for serum amyloid P component." Umeå universitet, Institutionen för molekylärbiologi (Medicinska fakulteten), 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-65622.

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BACKGROUND: Serum amyloid P component (SAP) is a glycoprotein that is universally found associated with different types of amyloid deposits. It has been suggested that it stabilizes amyloid fibrils and therefore protects them from proteolytic degradation. METHODOLOGY/PRINCIPAL FINDINGS: In this paper, we show that SAP binds not only to mature amyloid fibrils but also to early aggregates of amyloidogenic mutants of the plasma protein transthyretin (TTR). It does not inhibit fibril formation of TTR mutants, which spontaneously form amyloid in vitro at physiological pH. We found that SAP prevents cell death induced by mutant TTR, while several other molecules that are also known to decorate amyloid fibrils do not have such effect. Using a Drosophila model for TTR-associated amyloidosis, we found a new role for SAP as a protective factor in inhibition of TTR-induced toxicity. Overexpression of mutated TTR leads to a neurological phenotype with changes in wing posture. SAP-transgenic flies were crossed with mutated TTR-expressing flies and the results clearly confirmed a protective effect of SAP on TTR-induced phenotype, with an almost complete reduction in abnormal wing posture. Furthermore, we found in vivo that binding of SAP to mutated TTR counteracts the otherwise detrimental effects of aggregation of amyloidogenic TTR on retinal structure. CONCLUSIONS/SIGNIFICANCE: Together, these two approaches firmly establish the protective effect of SAP on TTR-induced cell death and degenerative phenotypes, and suggest a novel role for SAP through which the toxicity of early amyloidogenic aggregates is attenuated.

Epub 2013 Feb 4.

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9

de, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." Thesis, The University of Sydney, 2008. http://hdl.handle.net/2123/3878.

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BCC is the commonest cancer in European-derived populations and Australia has the highest recorded incidence in the world, creating enormous individual and societal cost in management of this disease. The incidence of this cancer has been increasing internationally, with evidence of a 1 to 2% rise in incidence in Australia per year over the last two decades. The main four epidemiological risk factors for the development of BCC are ultraviolet radiation (UVR) exposure, increasing age, male sex, and inability to tan. The pattern and timing of UVR exposure is important to BCC risk, with childhood and intermittent UVR exposure both associated with an increased risk. The complex of inherited characteristics making up an individual’s ‘sun sensitivity’ is also important in determining BCC risk. Very little is known about population genetic susceptibility to BCC outside of the rare genodermatosis Gorlin syndrome. Mutations in the tumour suppressor gene patched (PTCH) are responsible for this BCC predisposition syndrome and the molecular pathway and target genes of this highly conserved pathway are well described. Derangments in this pathway occur in sporadic BCC development, and the PTCH gene is an obvious candidate to contribute to non-syndromic susceptibility to BCC. The melanocortin 1 receptor (MC1R) locus is known to be involved in pigmentary traits and the cutaneous response to UVR, and variants have been associated with skin cancer risk. Many other genes have been considered with respect to population BCC risk and include p53, HPV, GSTs, and HLAs. There is preliminary evidence for specific familial aggregation of BCC, but very little known about the causes. 56 individuals who developed BCC under the age of 40 in the year 2000 were recruited from the Skin and Cancer Foundation of Australia’s database. This represents the youngest 7 – 8% of Australians with BCC from a database that captures approximately 10% of Sydney’s BCCs. 212 of their first degree relatives were also recruited, including 89 parents and 123 siblings of these 56 probands. All subjects were interviewed with respect to their cancer history and all reports of cancer verified with histopathological reports where possible. The oldest unaffected sibling for each proband (where available) was designated as an intra-family control. All cases and control siblings filled out a questionnaire regarding their pigmentary and sun sensitivity factors and underwent a skin examination by a trained examiner. Peripheral blood was collected from these cases and controls for genotyping of PTCH. All the exons of PTCH for which mutations have been documented in Gorlin patients were amplified using PCR. PCR products were screened for mutations using dHPLC, and all detectable variants sequenced. Prevalence of BCC and SCC for the Australian population was estimated from incidence data using a novel statistical approach. Familial aggregation of BCC, SCC and MM occurred within the 56 families studied here. The majority of families with aggregation of skin cancer had a combination of SCC and BCC, however nearly one fifth of families in this study had aggregation of BCC to the exclusion of SCC or MM, suggesting that BCCspecific risk factors are also likely to be at work. Skin cancer risks for first-degree relatives of people with early onset BCC were calculated: sisters and mothers of people with early-onset BCC had a 2-fold increased risk of BCC; brothers had a 5-fold increased risk of BCC; and sisters and fathers of people with early-onset BCC had over four times the prevalence of SCC than that expected. For melanoma, the increased risk was significant for male relatives only, with a 10-fold increased risk for brothers of people with early-onset BCC and 3-fold for fathers. On skin examination of cases and controls, several phenotypic factors were significantly associated with BCC risk. These included increasing risk of BCC with having fair, easyburning skin (ie decreasing skin phototype), and with having signs of cumulative sun damage to the skin in the form of actinic keratoses. Signs reflecting the combination of pigmentary characteristics and sun exposure - in the form of arm freckling and solar lentigines - also gave subjects a significantly increased risk BCC. Constitutive red-green reflectance of the skin was associated with decreased risk of BCC, as measured by spectrophotometery. Other non-significant trends were seen that may become significant in larger studies including associations of BCC with propensity to burn, moderate tanning ability and an inability to tan. No convincing trend for risk of BCC was seen with the pigmentary variables of hair or eye colour, and a non-significant reduced risk of BCC was associated with increasing numbers of seborrhoeic keratoses. Twenty PTCH exons (exons 2, 3, 5 to 18, and 20 to 23) were screened, accounting for 97% of the coding regions with published mutations in PTCH. Nine of these 20 exons were found to harbour single nucleotide polymorphisms (SNPs), seen on dHPLC as variant melting curves and confirmed on direct sequencing. SNPs frequencies were not significantly different to published population frequencies, or to Australian general population frequencies where SNP database population data was unavailable. Assuming a Poisson distribution, and having observed no mutations in a sample of 56, we can be 97.5% confident that if there are any PTCH mutations contributing to early-onset BCC in the Australian population, then their prevalence is less than 5.1%. Overall, this study provides evidence that familial aggregation of BCC is occurring, that first-degree relatives are at increased risk of all three types of skin cancer, and that a combination of environmental and genetic risk factors are likely to be responsible. The PTCH gene is excluded as a major cause of this increased susceptibility to BCC in particular and skin cancer in general. The weaknesses of the study design are explored, the possible clinical relevance of the data is examined, and future directions for research into the genetics of basal cell carcinoma are discussed.
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10

de, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." University of Sydney, 2008. http://hdl.handle.net/2123/3878.

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Doctor of Philosophy(PhD)
BCC is the commonest cancer in European-derived populations and Australia has the highest recorded incidence in the world, creating enormous individual and societal cost in management of this disease. The incidence of this cancer has been increasing internationally, with evidence of a 1 to 2% rise in incidence in Australia per year over the last two decades. The main four epidemiological risk factors for the development of BCC are ultraviolet radiation (UVR) exposure, increasing age, male sex, and inability to tan. The pattern and timing of UVR exposure is important to BCC risk, with childhood and intermittent UVR exposure both associated with an increased risk. The complex of inherited characteristics making up an individual’s ‘sun sensitivity’ is also important in determining BCC risk. Very little is known about population genetic susceptibility to BCC outside of the rare genodermatosis Gorlin syndrome. Mutations in the tumour suppressor gene patched (PTCH) are responsible for this BCC predisposition syndrome and the molecular pathway and target genes of this highly conserved pathway are well described. Derangments in this pathway occur in sporadic BCC development, and the PTCH gene is an obvious candidate to contribute to non-syndromic susceptibility to BCC. The melanocortin 1 receptor (MC1R) locus is known to be involved in pigmentary traits and the cutaneous response to UVR, and variants have been associated with skin cancer risk. Many other genes have been considered with respect to population BCC risk and include p53, HPV, GSTs, and HLAs. There is preliminary evidence for specific familial aggregation of BCC, but very little known about the causes. 56 individuals who developed BCC under the age of 40 in the year 2000 were recruited from the Skin and Cancer Foundation of Australia’s database. This represents the youngest 7 – 8% of Australians with BCC from a database that captures approximately 10% of Sydney’s BCCs. 212 of their first degree relatives were also recruited, including 89 parents and 123 siblings of these 56 probands. All subjects were interviewed with respect to their cancer history and all reports of cancer verified with histopathological reports where possible. The oldest unaffected sibling for each proband (where available) was designated as an intra-family control. All cases and control siblings filled out a questionnaire regarding their pigmentary and sun sensitivity factors and underwent a skin examination by a trained examiner. Peripheral blood was collected from these cases and controls for genotyping of PTCH. All the exons of PTCH for which mutations have been documented in Gorlin patients were amplified using PCR. PCR products were screened for mutations using dHPLC, and all detectable variants sequenced. Prevalence of BCC and SCC for the Australian population was estimated from incidence data using a novel statistical approach. Familial aggregation of BCC, SCC and MM occurred within the 56 families studied here. The majority of families with aggregation of skin cancer had a combination of SCC and BCC, however nearly one fifth of families in this study had aggregation of BCC to the exclusion of SCC or MM, suggesting that BCCspecific risk factors are also likely to be at work. Skin cancer risks for first-degree relatives of people with early onset BCC were calculated: sisters and mothers of people with early-onset BCC had a 2-fold increased risk of BCC; brothers had a 5-fold increased risk of BCC; and sisters and fathers of people with early-onset BCC had over four times the prevalence of SCC than that expected. For melanoma, the increased risk was significant for male relatives only, with a 10-fold increased risk for brothers of people with early-onset BCC and 3-fold for fathers. On skin examination of cases and controls, several phenotypic factors were significantly associated with BCC risk. These included increasing risk of BCC with having fair, easyburning skin (ie decreasing skin phototype), and with having signs of cumulative sun damage to the skin in the form of actinic keratoses. Signs reflecting the combination of pigmentary characteristics and sun exposure - in the form of arm freckling and solar lentigines - also gave subjects a significantly increased risk BCC. Constitutive red-green reflectance of the skin was associated with decreased risk of BCC, as measured by spectrophotometery. Other non-significant trends were seen that may become significant in larger studies including associations of BCC with propensity to burn, moderate tanning ability and an inability to tan. No convincing trend for risk of BCC was seen with the pigmentary variables of hair or eye colour, and a non-significant reduced risk of BCC was associated with increasing numbers of seborrhoeic keratoses. Twenty PTCH exons (exons 2, 3, 5 to 18, and 20 to 23) were screened, accounting for 97% of the coding regions with published mutations in PTCH. Nine of these 20 exons were found to harbour single nucleotide polymorphisms (SNPs), seen on dHPLC as variant melting curves and confirmed on direct sequencing. SNPs frequencies were not significantly different to published population frequencies, or to Australian general population frequencies where SNP database population data was unavailable. Assuming a Poisson distribution, and having observed no mutations in a sample of 56, we can be 97.5% confident that if there are any PTCH mutations contributing to early-onset BCC in the Australian population, then their prevalence is less than 5.1%. Overall, this study provides evidence that familial aggregation of BCC is occurring, that first-degree relatives are at increased risk of all three types of skin cancer, and that a combination of environmental and genetic risk factors are likely to be responsible. The PTCH gene is excluded as a major cause of this increased susceptibility to BCC in particular and skin cancer in general. The weaknesses of the study design are explored, the possible clinical relevance of the data is examined, and future directions for research into the genetics of basal cell carcinoma are discussed.
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Books on the topic "Familial aggregation"

1

Tisler, Andras. Analysis of the familial aggregation of hypertension among patients with different types of kidney stone disease. Ottawa: National Library of Canada, 1998.

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Brauer, Paula Mae. Familial aggregation of diabetes, hypertension and cardiovascular conditions in a case-control study of colorectal neoplasia. 2000.

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3

Mittal, Sajjan. Amyloidosis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0181.

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Amyloidosis is a multisystem disease caused by the extracellular deposition of insoluble abnormal fibrils that injure tissues and organs. The fibrils are formed by the aggregation of misfolded, normally soluble proteins. Systemic amyloid light-chain (AL) amyloidosis (primary amyloidosis) is the commonest type of amyloidosis in the developed world, accounting for 80% of cases. The remainder are due to AA amyloidosis (secondary or reactive amyloidosis), familial amyloidosis, or other rare types of amyloidosis. The most common clinical features at diagnosis are nephrotic syndrome, heart failure (typically with predominant right heart failure), sensorimotor and/or autonomic peripheral neuropathy, and hepatosplenomegaly.
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Otowa, Takeshi, Roxann Roberson-Nay, Mandakh Bekhbat, Gretchen N. Neigh, and John M. Hettema. Genetics of Anxiety Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0033.

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This chapter provides a broad overview of the state of research in the genetics of the major anxiety disorders (ADs). They exhibit moderate familial aggregation and heritability due to genetic risk factors that are shared between them as well as those that are disorder-specific. Many candidate gene association studies have been published, with a small set of genes that have been consisted validated for their role in one or more anxiety phenotypes. Genome-wide association studies of ADs are in their infancy, with a handful of published studies for each disorder so far and more to come conducted by large consortia. Animal studies provide a promising complimentary approach that demonstrate concurring evidence across species supporting the involvement of particular biological systems in anxiety-related behaviors.
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Samuels, Jack, Marco A. Grados, Elizabeth Planalp, and O. Joseph Bienvenu. Genetic Understanding of OCD and Spectrum Disorders. Edited by Gail Steketee. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780195376210.013.0025.

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This chapter reviews the evidence for the genetic etiology of OCD and spectrum conditions. A genetic basis is supported by the familial aggregation of OCD; evidence for involvement of genes of major effect in segregation analyses; and higher concordance for OCD in identical than non-identical twins. Recent studies also support linkage of OCD to specific chromosomal regions and association of OCD with specific genetic polymorphisms. However, specific genes causing OCD have not yet been firmly established. The search for genes is complicated by the clinical and etiologic heterogeneity of OCD, as well as the possibility of gene–gene and gene–environmental interactions. Despite this complexity, developments in molecular and statistical genetics, and further refinement of the phenotype hold promise for further deepening our genetic understanding of OCD and spectrum disorders in the coming decade.
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Ugarte-Gil, Manuel F., and Graciela S. Alarcón. History of systemic lupus erythematosus. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198739180.003.0001.

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The first description of cutaneous ulcerations consistent with systemic lupus erythematosus (SLE) has been attributed to Hippocrates. The term lupus first appeared in English literature in the tenth century. Until the nineteenth century, however, this term was used to describe different conditions. Osler first recognized that organ involvement may occur with or without skin involvement. With the discovery of LE cells and autoantibodies, the use of lupus murine models, and the recognition of familial aggregation and the importance of genetic factors, the pathogenesis of SLE started to be unravelled and allowed the definition of classification criteria. In parallel, the discovery of cortisone, the use of immunosuppressive drugs and antimalarials, the control of hypertension, and the availability of renal replacement therapy improved the prognosis of SLE from a 4-year survival of 51% to a 5-year survival >90%. Advances in genetics and targeted therapies will lead to better intermediate and long-term outcomes.
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Feinberg, Melanie. Everyday Adventures with Unruly Data. The MIT Press, 2022. http://dx.doi.org/10.7551/mitpress/14198.001.0001.

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Paired informal and scholarly essays show how everyday events reveal fundamental concepts of data, including its creation, aggregation, management, and use. Whether questioning numbers on a scale, laughing at a misspelling of one's name, or finding ourselves confused in a foreign supermarket, we are engaging with data. The only way to handle data responsibly, says Melanie Feinberg in this incisive work, is to take into account its human character. Though the data she discusses may seem familiar, close scrutiny shows it to be ambiguous, complicated, and uncertain: unruly. Drawing on the tools of information science, she uses everyday events such as deciding between Blender A and Blender B on Amazon to demonstrate a practical, critical, and generative mode of thinking about data: its creation, management, aggregation, and use. Each chapter pairs a self-contained main essay (an adventure) with a scholarly companion essay (the reflection). The adventure begins with an anecdote—visiting the library, running out of butter, cooking rice on a different stove. Feinberg argues that to understand the power and pitfalls of data science, we must attend to the data itself, not merely the algorithms that manipulate it. As she reflects on the implications of commonplace events, Feinberg explicates fundamental concepts of data that reveal the many tiny design decisions—which may not even seem like design at all—that shape how data comes to be. Through the themes of serendipity, objectivity, equivalence, interoperability, taxonomy, labels, and locality, she illuminates the surprisingly pervasive role of data in our daily thoughts and lives.
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Randhawa, Gurvaneet S., and Edwin A. Lomotan. Harnessing Big Data-Based Technologies to Improve Cancer Care. Edited by David A. Chambers, Wynne E. Norton, and Cynthia A. Vinson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190647421.003.0034.

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Big data promises to harness the power of advanced computing to transform health and health care, including cancer research and care delivery. In health care, big data can be generated by administrative and clinical processes, by patients and families, and by machines. Ultimately, the goal of big data is to transform data into actionable knowledge with attention to four dimensions: person-level data collection; data access, exchange, and aggregation; population-level analytics; and provider, researcher, or patient-facing clinical decision support. A fabric of trust forms the basis for policies for governance, privacy and security, and confidentiality. This chapter offers several examples of the application of big data along the cancer care continuum, ranging from primary prevention through diagnosis, survivorship, and end-of-life care. Challenges to the effective collection and use of big data include its integration with health care delivery; interoperability; and the need for validated, well-designed informatics tools.
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Book chapters on the topic "Familial aggregation"

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Naj, Adam C., Yo Son Park, and Terri H. Beaty. "Detecting Familial Aggregation." In Methods in Molecular Biology, 119–50. Totowa, NJ: Humana Press, 2011. http://dx.doi.org/10.1007/978-1-61779-555-8_8.

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Naj, Adam C., and Terri H. Beaty. "Detecting Familial Aggregation." In Methods in Molecular Biology, 133–69. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-7274-6_8.

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Wang, Xiaoling, and Harold Snieder. "Familial Aggregation of Blood Pressure." In Pediatric Hypertension, 241–58. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60327-824-9_14.

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Snieder, Harold. "Familial Aggregation of Blood Pressure." In Pediatric Hypertension, 265–77. Totowa, NJ: Humana Press, 2004. http://dx.doi.org/10.1007/978-1-59259-797-0_15.

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Wang, Xiaoling, and Harold Snieder. "Familial Aggregation of Blood Pressure." In Pediatric Hypertension, 195–209. Totowa, NJ: Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-490-6_14.

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Wang, Xiaoling, and Harold Snieder. "Heritability and Familial Aggregation of Blood Pressure." In Pediatric Hypertension, 159–76. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-31107-4_14.

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Wang, Xiaoling, and Harold Snieder. "Heritability and Familial Aggregation of Blood Pressure." In Pediatric Hypertension, 1–18. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-31420-4_14-1.

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Nagasaka, Takamura. "Familial Amyloidotic Polyneuropathy and Transthyretin." In Protein Aggregation and Fibrillogenesis in Cerebral and Systemic Amyloid Disease, 565–607. Dordrecht: Springer Netherlands, 2012. http://dx.doi.org/10.1007/978-94-007-5416-4_21.

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Aoki, Kunio, and Hiroshi Ogawa. "Familial Cancer Among Cancer Patients Registered at the Aichi Cancer Registry - Heterogeneity of Aggregation of Familial Cancer." In Familial Cancer Control, 119–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-77582-6_26.

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Malone, Kathleen E., and Kerryn W. Reding. "Inherited Predisposition: Familial Aggregation and High Risk Genes." In Breast Cancer Epidemiology, 277–99. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-0685-4_13.

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Conference papers on the topic "Familial aggregation"

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Taytard, Jessica, Laurence Jordan, Pascal Garrec, Camille Aupiais, and Nicole Beydon. "Familial aggregation of obstructive sleep apnea syndrome based on a pediatric index case." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa2344.

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Chandra, D., EJ Campbell, SI Rennard, AF Barker, ML Brantly, E. Eden, NG McElvaney, et al. "Familial Aggregation of Augmentation Therapy Use in Severe Alpha-1-Antitrypsin (AAT) Deficiency." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a3526.

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Schwartz, Ann G. "Abstract IA03: Lung cancer risk in African Americans: Familial aggregation and genetic susceptibility." In Abstracts: Eighth AACR Conference on The Science of Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; November 13-16, 2015; Atlanta, Georgia. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7755.disp15-ia03.

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Fang, Yixin. "An Application of a Theorem of Johnstone and Forrester to Testing for Familial Aggregation." In 2008 International Conference on Biomedical Engineering And Informatics (BMEI). IEEE, 2008. http://dx.doi.org/10.1109/bmei.2008.349.

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Ganapati, A., GU Arunachal, S. Arya, D. Shanmugasundaram, L. Jeyaseelan, ST Kumar, S. Danda, and D. Danda. "403 Study of familial aggregation of autoimmune diseases in asian indian lupus patients (PROBANDS)." In LUPUS 2017 & ACA 2017, (12th International Congress on SLE &, 7th Asian Congress on Autoimmunity). Lupus Foundation of America, 2017. http://dx.doi.org/10.1136/lupus-2017-000215.403.

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Samama, M., J. Conard, M. H. Horellou, G. Nguyen, Van Dreden, and J. H. Soria. "ABNORMALITIES OF FIBRINOGEN AND FIBRINOLYSIS IN FAMILIAL THROMBOSIS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643716.

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We have reviewed our own experience (400 patients with documented thromboembolic disease) as well as that recorded in the literature. Impaired fibrinolysis after venous occlusion (VO) was the most common finding in patients with history of thrombosis (35% in our series). In contrast, very few families with such an alteration and thrombosis have been reported, suggesting that this disorder is most frequently acquired. In a series of 59 patients with history of thromboembolism, 25 patients with an abnormal responseto an 10 min. V0 on 2 different occasions (group A) were compared with 34 patients who had a normal response toV0 (group B). A positive family history was present in 50% of cases of both groups. A congenital deficiency in AT III, protein C or plasminogen was ruled out in all patients. In group A, as compared to group B, t-PA antigen (Elisa method) and activity (fibrinplates) were significantly lower after V0, basal PAI activity (Verheijen method) was higher (increased in 84 and 11% of patients in groups A and B respectively) and PAI after V0 was also higher in group A (p < 0.01). In this group an associated abnormal t-PA release cannot be reliably ruled out. In patients with abnormal V0 but normal basal PAI (n = 4), a decreased plasminogen activator release may besuspected.According to animal and in vitro studies, bovine and, to a less degree,human activated protein C (APC) may stimulate fibrinoly-* sis. In a groupof 46 patients with congenital proteinC deficiency, we could not demonstrate a significant alteration of the fibri-lytic response to V0 by common lysis tests on diluted whole blood, euglobulins or plasma ; in addition basalPAI activity levels were not significantly different from normal values,even in one homozygous patient. However, an alteration of fibrinolysis localized at the vascular surface and/or irrelevance of the tests used in thesepatients cannot be excluded.In principle, a contact factor deficiency could predispose to thrombosis since intrinsic activation of fibrinolysis requires factor XII, prekallikrein (PK) and high molecular weight kininogen (HMWK). However,there is no strong evidence for this relationship. A small number of plasminogen deficiencies associated with thrombosis have been reported, with decreased activity and normal or concommitantly reduced antigen.We have observed onlyone case of familialplasminogen deficiency (both antigen and activity) out of the 400 patients studied. The relationship between the deficiencyandthe occurence of thrombosis has been questioned since,although thrombosis occuredin our propositus as well as in some of the patients reported in the literature, accidents were infre quent in other affected family members.Although predisposition to thrombosis in patients with hypo- or dysfibrinogenemia (D) seems paradoxical, several reasons can account for this apparent coincidence. Fibrin possesses antithrombin properties and enhances plasminogen activation induced by t-PA. Moreover, fibrinogen binding to platelets is an essential step in the mechanism of platelet aggregation. Alteration of these different functions could enhance thrombosis. In fact, thrombotic episodes were observed in about 10% of probands with D and in 4 patients with hypofibrinogenemia. The siblings with D are frequently asymptomatic. In few cases it has been shown that the abnormal fibrinogen could predispose tothrombosis such as in Dusard syndrome. Several family members suffered from a severe thrombotic disorder. A defective fibrinolysis due to an impaired fibrin enhanced plasminogen activation by t-PA was demonstrated. In Fibrinogen Oslo an increase of fibrinogen platelet aggregation cofactor activity was postulated to predispose to venous thrombosis.A defective thrombin bindingto fibrin was found in at least 3 cases ofD(fibrinogen New York I, Malmoe, Milano).Infibrinogen New York an associated defective binding of t-PA was shown. The findings concerning a defective thrombin, plasminogen, or t-PA binding to fibrin in some patients with fibrinogen alteration suggesttheimportant role of clot structure in the pathogenesis of some thrombotic disorders.In conclusion, the best tests to detecthypofibrinolysis have still to be determined : whole blood or plasma, lysis tests ormore specific assays such as t-PA or PAI, venous occlusion of 10 min. or more. In addition, a defective fibrinolysis can be associated with a well-defined congenital deficiency in coagulation inhibitors.
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Nagayama, R., A. Hattori, I. Fuse, T. Takeshige, S. Takizawa, and A. Shibata. "PLATELET IONIZED CALCIUM MOBILIZATION (AEQUORIN METHOD) IN PATIENTS WITH PRIMARY PLATELET DYSFUNCTION." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644571.

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Intracellular calcium level of platelets of the patients with primary platelet dysfunction (thrombasthenia, platelet cyclo-oxygenase deficiency, familial defect of A23187 induced platelet aggregation, Hermansky-Pudlak syndrome. Bernard-Soulier syndrome, each 1 case, and other 3 cases of platelet release mechanism defect of unknown etiology) were measured with the photoprotein Aequorin according to the method by Johnson et al. The peak level and the lag time to the peak were evaluated. Activation was done by 4 or more different concentrations of either thrombin (0.125-1.0μ/ml), A23187 (0.25-2.0μM), ATA2 (0.05-0.4μM) or occasionally arachidonate (0.25-100μM).In case of stimulation by thrombin, the maximum [Ca2+] level in thrombasthenia was much lower than those in normal. The lag time was prolonged in Bernard-Soulier syndrome. In case of stimulation by STA2 the maximum [Ca2+] level was very much lower in thrombasthenia and was lower in a familial defect of A23187-induced platelet aggregation and a case of platelet release mechanism defect than normals. In case of stimulation by A23187, the maximum [Ca2+] level was much lower in thrombasthenia and PCO deficiency and platelet release mechanism defect (2 cases) in which the lag time of A23187 induced platelet aggregation was also prolonged. In PCO deficiency, arachodonate less than μM produced a dose-dependent rise in intracellular calcium level and that (1-25μM) caused a rise of a consistent level although it didn't induce aggregation. Arachidonate (25-100M) caused both higher rise and aggregation. Mobilization was normal in response to STA2 and thrombin but decreased to A23187 in this deficiency.These findings suggest that [Ca2+] mobilization was deteriorated by many mechanisms such as defect of PGG2H2-and Tx-forma-tion, membranous abnormality (lack of glycoproteins) and storage pool deficiency, and further that atachidonate even at low concentration may cause mobilization without conversion to PGG2H2 or Tx.
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Pal, Partha, and Rupa Banerjee. "IDDF2018-ABS-0268 Familial aggregation of inflammatory bowel disease in india: prevalence, risks and impact on disease behaviour." In International Digestive Disease Forum (IDDF) 2018, Hong Kong, 9–10 June 2018. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2018. http://dx.doi.org/10.1136/gutjnl-2018-iddfabstracts.186.

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Smew, Awad, Cecilia Lundholm, Lars Sävendahl, Paul Lichtenstein, and Catarina Almqvist. "Familial co-aggregation of asthma and type 1 diabetes mellitus in children– a Swedish population-based cohort study." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1214.

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Morin, Matilda, Karin Hellgren, and Thomas Frisell. "FRI0369 TOWARDS MORE PRECISE ESTIMATES OF THE FAMILIAL AGGREGATION AND HERITABILITY OF ANKYLOSING SPONDYLITIS – A SWEDISH NESTED CASE-CONTROL STUDY." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.1949.

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