Risk Factors and Chronicity of Bipolar Affective Disorder: Biological and Psychosocial Aspects

The literature review provides the results of epidemiological studies of bipolar affective disorder (BAD). Biological risk factors and adverse course of BAD are considered in detail, including genetic ones (BAD is defined as a genetically determined disorder that has common non-specific genetic risk factors with depressive and schizophrenic spectrum disorders). We address the data on various neurotransmitter systems dysfunctions that may play a role in the pathogenesis of the disease. The results of studies of biological markers in the blood, as well as morphological disorders in brain structures, are analyzed. Stressful situations, that can aggravate manifestations of a genetic and biochemical predisposition, disturbances in emotional and cognitive mental processes, neurocognitive deficiency, and dysfunctional family relationships are considered as psychosocial factors of BAD.

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Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder

Molecular Psychiatry ◽

10.1038/sj.mp.4001421 ◽

2004 ◽

Vol 9 (2) ◽

pp. 203-207 ◽

Cited By ~ 227

Author(s):

J Schumacher ◽

R Abon Jamra ◽

J Freudenberg ◽

T Becker ◽

S Ohlraun ◽

...

Keyword(s):

Risk Factors ◽

Amino Acid ◽

Affective Disorder ◽

Genetic Risk ◽

Bipolar Affective Disorder ◽

Genetic Risk Factors ◽

Acid Oxidase ◽

Amino Acid Oxidase

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Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

Cells ◽

10.3390/cells10010171 ◽

2021 ◽

Vol 10 (1) ◽

pp. 171

Author(s):

Federica Arienti ◽

Giulia Lazzeri ◽

Maria Vizziello ◽

Edoardo Monfrini ◽

Nereo Bresolin ◽

...

Keyword(s):

Risk Factors ◽

Systematic Review ◽

Genetic Risk ◽

Genetic Factors ◽

Diagnostic Algorithm ◽

Behavioral Changes ◽

Corticobasal Syndrome ◽

Cochrane Library ◽

Radiological Features ◽

Genetically Determined

Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.

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Possible Endophenotypes in the Search for Genetic Risk Factors in Autism Spectrum Disorders

Autism Spectrum Disorder - Recent Advances ◽

10.5772/60039 ◽

2015 ◽

Author(s):

Adriana Díaz-Anzaldúa ◽

Rigoberto Rosendo Gutiérrez ◽

Alejandro Díaz-Anzaldúa ◽

José Octavio Hernández Lagunas

Keyword(s):

Risk Factors ◽

Autism Spectrum Disorders ◽

Genetic Risk ◽

Genetic Risk Factors ◽

Autism Spectrum ◽

Spectrum Disorders

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Genetics

10.1093/med/9780199668847.003.0009 ◽

2016 ◽

Author(s):

Ana M. Valdes

Keyword(s):

Risk Factors ◽

Genetic Risk ◽

Complex Trait ◽

Genetic Risk Factors ◽

Underlying Disease ◽

Epidemiological Studies ◽

Signalling Pathways ◽

Treatment Regimens ◽

Tailored Treatment ◽

Molecular Signalling Pathways

Epidemiological studies have demonstrated that osteoarthritis (OA) is a complex trait with numerous environmental and genetic risk factors. A great deal of effort has been spent elucidating these risk factors and progress has been made. It is clear however that the causes behind OA development and progression continue to remain largely elusive. Identification of those genes that, in conjunction with environmental factors, predispose to OA severity will lead to a better understanding of the mechanisms underlying disease development and thus promote improved health strategies for prevention. An understanding of the molecular signalling pathways involved in the initiation and progression of the disease will improve clinical diagnosis and help identify improved, tailored treatment regimens. This chapter focuses on these issues, exploring the heritability of OA, known genetic risk factors, and specific traits and outcomes studied in the genetics of OA.

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Lifestyle and sociodemographic risk factors for gastroschisis: a systematic review and meta-analysis

Archives of Disease in Childhood ◽

10.1136/archdischild-2019-318412 ◽

2020 ◽

Vol 105 (8) ◽

pp. 756-764 ◽

Cited By ~ 2

Author(s):

Silvia Baldacci ◽

Michele Santoro ◽

Alessio Coi ◽

Lorena Mezzasalma ◽

Fabrizio Bianchi ◽

...

Keyword(s):

Risk Factors ◽

Genetic Risk ◽

Illicit Drugs ◽

Meta Analysis ◽

Genetic Risk Factors ◽

Epidemiological Studies ◽

Black Mothers ◽

Increased Risk ◽

Sociodemographic Risk ◽

Meta Analyses

BackgroundGastroschisis is strongly associated with young maternal age. This association suggests the need for further investigations on non-genetic risk factors. Identifying these risk factors is a public health priority in order to develop prevention strategies aimed at reducing the prevalence and health consequences in offspring.ObjectiveTo systematically assess and quantitatively synthesise the available epidemiological studies to evaluate the association between non-genetic risk factors and gastroschisis.MethodsLiterature from PubMed, EMBASE and Scopus was searched for the period 1990–2018. Epidemiological studies reporting risk estimates between lifestyle and sociodemographic risk factors and gastroschisis were included. Two pairs of reviewers independently extracted information on study characteristics following Preferred Reporting Items for Systematic Reviews and Meta-Analyses and MOOSE (Meta-analysis Of Oservational Studies in Epidemiology) guidelines. Relative risk (RR) estimates were calculated across the studies and meta-analysis was performed using random-effects model.ResultsWe identified 58 studies. Meta-analyses were conducted on 29 studies. Maternal smoking (RR 1.56, 95% CI 1.40 to 1.74), illicit drug use (RR 2.14, 95% CI 1.48 to 3.07) and alcohol consumption (RR 1.40, 95% CI 1.13 to 1.70) were associated with an increased risk of gastroschisis. A decreased risk among black mothers compared with non-Hispanic white mothers (RR 0.49, 95% CI 0.38 to 0.63) was found. For Hispanic mothers no association was observed.ConclusionsExposure to smoking, illicit drugs and alcohol during pregnancy is associated with an increased risk of gastroschisis. A significantly decreased risk for black mothers was observed. Further epidemiological studies to assess the potential role of other environmental factors are strongly recommended.PROSPERO registration numberCRD42018104284.

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Genetics of Pancreatitis

Scandinavian Journal of Surgery ◽

10.1177/145749690509400204 ◽

2005 ◽

Vol 94 (2) ◽

pp. 103-107 ◽

Cited By ~ 9

Author(s):

V. Keim

Keyword(s):

Risk Factors ◽

Genetic Risk ◽

Autosomal Dominant ◽

Pancreas Cancer ◽

Genetic Risk Factors ◽

The Past ◽

Cationic Trypsinogen ◽

The Subject ◽

Genetically Determined

There was some recent progress in the understanding of genetic risk factors in chronic pancreatitis. Due to this progress some of the traditional views of the subject will change. Today, genetic risk factors are attributed a much more important role that in the past. The frequency and strength of mutations were higher than expected. Strong variants were the rare autosomal-dominant mutations N29I and R122H of PRSS1 (cationic trypsinogen) and homozygous N34S of SPINK1 (pancreatic secretory trypsin inhibitor). Other mutations (heterozygous N34S, CFTR) were of lower relevance but still mediate a higher risk than alcohol consumption. The course of genetically determined pancreatitis is rather mild. In the long term pancreas cancer was found in some patients but apart from non-smoking no adequate prophylactic strategy is available up to now.

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