scholarly journals Familial associations for rheumatoid autoimmune diseases

2020 ◽  
Vol 4 (2) ◽  
Author(s):  
Hauke Thomsen ◽  
Xinjun Li ◽  
Kristina Sundquist ◽  
Jan Sundquist ◽  
Asta Försti ◽  
...  
Keyword(s):  
High Risk ◽  
Autoimmune Diseases ◽  
Sex Difference ◽  
Family Study ◽  
Familial Risk ◽  
Disease Onset ◽  
Complex Diseases ◽  
The Other ◽  
Genetic Pathways ◽  
Study Designs

Abstract Objective Previous studies have shown a familial component in RA and in some other rheumatic autoimmune diseases (RAIDs), but because of the different study designs the risk estimates for familial risks differ extensively. The objective of this study is to identify familial components for RAIDs. Methods We collected data on patients diagnosed in Swedish hospitals with RA, AS, PM/DM, SS, SLE and SSc (and scleroderma) and calculated familial standardized incidence ratios (SIRs) for each of these (concordant) and between them (discordant). Results The combined number of RAID patients in the offspring population (for whom SIRs were calculated) was 71 544, and in the whole population the number was 152 714, accounting for 19.8% of all autoimmune diseases in Sweden. AS showed the highest concordant familial risk of 18.42, followed by SLE (14.04), SS (8.63), SSc (4.50), PM/DM (4.03) and RA (3.03). There was no sex difference in SIRs. Risks for AS and SLE were 80.28 and 19.53 for persons whose parents and siblings were affected. Discordant risks were far lower than concordant risks, but they were significant for RA with all the other five RAIDs, for SLE and SSc with four RAIDs, for AS and SS with three RAIDs and for PM/DM with two RAIDs, attesting to extensive polyautoimmunity between RAIDs. Conclusion The derived familial risks in this nationwide family study on medically diagnosed RAID are compatible with emerging evidence on the polygenic background of these complex diseases. Novel genetic pathways offer new therapeutic targets that alleviate disease onset optimally in high-risk familial patients and others.

A Family Study of Two Subgroups of Schizoaffective Patients

1989 ◽  
Vol 154 (5) ◽  
pp. 640-643 ◽  
Author(s):  
Mario Maj
Keyword(s):  
High Risk ◽  
Psychiatric Disorders ◽  
Schizoaffective Disorder ◽  
Clinical Picture ◽  
Affective Disorders ◽  
Family Study ◽  
The Other ◽  
Schizoaffective Disorders ◽  
First Degree Relatives ◽  
Group A

A family study was carried out in two groups of patients fulfilling RDC for schizoaffective disorder: in one, a full affective and a full schizophrenic syndrome were simultaneously present; in the other, affective and schizophrenic features appeared within a polymorphic and rapidly changing clinical picture, with depersonalisation/derealisation and/or confusion. In the first-degree relatives of patients of the former group, the risk of major psychiatric disorders was not significantly different from that of relatives of schizophrenics, whereas in the first-degree relatives of patients of the latter group a low risk for both schizophrenia and major affective disorders, and a relatively high risk for schizoaffective disorders, were observed.

Industry Specialization by Auditors

1999 ◽  
Vol 18 (1) ◽  
pp. 1-17 ◽  
Author(s):  
Chris E. Hogan ◽  
Debra C. Jeter
Keyword(s):  
High Risk ◽  
Market Share ◽  
Scale Economies ◽  
The Other ◽  
Industry Specialization ◽  
Audit Market ◽  
Audit Firms ◽  
Regulated Industries ◽  
Concentration Levels ◽  
Over Time

Dramatic changes in recent years in the audit market suggest the timeliness of an investigation of trends in auditor concentration and an extension of prior research (e.g., Danos and Eichenseher 1982). In recent press, large audit firms have claimed that specialization is a goal of increasing importance. Peat Marwick, for example, has restructured along industry lines, claiming to be recruiting professionals for national teams of multidisciplinary experts organized to “focus on the same industry to serve clients optimally.” On the other hand, litigation concerns might prompt auditors to diversify their risks by diversifying their clientele. In this study, we examine trends in industry specialization from 1976 to 1993 and the industry factors which may affect specialization; whether market share increases are greater for audit firms classified as specialists; and whether the nation's largest audit firms have increased their market share in the industries which they have identified as their focus industries. We find evidence that concentration levels have increased over this period, consistent with the claims of the large audit firms. We find that auditor concentration levels are higher in regulated industries, in more concentrated industries and in industries experiencing rapid growth, but lower in industries with a high risk of litigation. Levels of concentration have increased over time in nonregulated industries providing evidence that scale economies or superior efficiencies of heavy-involvement auditors are not limited to regulated industries but extend to nonregulated industries as well. We also find that for the audit firms classified as market leaders at the beginning of the year, market share has increased over time, whereas market share has declined for firms with a smaller share at the beginning of the year. This suggests that there are returns to investing in specialization.

scholarly journals Bridging autoinflammatory and autoimmune diseases

2021 ◽  
Vol 33 (1) ◽  
Author(s):  
Emad M. El-Shebiny ◽  
Enas S. Zahran ◽  
Sabry A. Shoeib ◽  
Eman S. Habib
Keyword(s):  
Innate Immunity ◽  
T Lymphocytes ◽  
Autoimmune Diseases ◽  
Adaptive Immunity ◽  
High Titre ◽  
The Other ◽  
Clinical Spectrum ◽  
Autoinflammatory Diseases ◽  
Main Body ◽  
B And T Lymphocytes

Abstract Background Autoimmunity is used to cause by impairment of adaptive immunity alone, whereas autoinflammatory was originally defined as a consequence of unregulated innate immunity. So, the pathogenetic mechanisms of autoimmune diseases were well-thought-out to be mediated by B and T lymphocytes. Whereas, autoinflammatory diseases were defined as unprovoked times of inflammation with the absence of a high titre of autoantibodies. Main body of the abstract Autoimmune and autoinflammatory diseases were split into two groups, but considering the similarities, it can be considered as only one group of diseases with a large immune pathological and clinical spectrum which involves at one end pure autoimmune diseases and the other pure autoinflammatory diseases. Conclusions We can safely conclude that there is bridging between autoinflammatory and autoimmune diseases.

scholarly journals Early Diagnostics and Early Intervention in Neurodevelopmental Disorders—Age-Dependent Challenges and Opportunities

2021 ◽  
Vol 10 (4) ◽  
pp. 861
Author(s):  
Mijna Hadders-Algra
Keyword(s):  
Early Intervention ◽  
High Risk ◽  
Early Detection ◽  
Developmental Disorders ◽  
Familial Risk ◽  
Brain Structures ◽  
Autism Spectrum ◽  
First Year ◽  
Early Diagnostics ◽  
Challenges And Opportunities

This review discusses early diagnostics and early intervention in developmental disorders in the light of brain development. The best instruments for early detection of cerebral palsy (CP) with or without intellectual disability are neonatal magnetic resonance imaging, general movements assessment at 2–4 months and from 2–4 months onwards, the Hammersmith Infant Neurological Examination and Standardized Infant NeuroDevelopmental Assessment. Early detection of autism spectrum disorders (ASD) is difficult; its first signs emerge at the end of the first year. Prediction with the Modified Checklist for Autism in Toddlers and Infant Toddler Checklist is possible to some extent and improves during the second year, especially in children at familial risk of ASD. Thus, prediction improves substantially when transient brain structures have been replaced by permanent circuitries. At around 3 months the cortical subplate has dissolved in primary motor and sensory cortices; around 12 months the cortical subplate in prefrontal and parieto-temporal cortices and cerebellar external granular layer have disappeared. This review stresses that families are pivotal in early intervention. It summarizes evidence on the effectiveness of early intervention in medically fragile neonates, infants at low to moderate risk, infants with or at high risk of CP and with or at high risk of ASD.

scholarly journals Is the Green Wave Really Green? The Risks of Rebound Effects When Implementing “Green” Policies

2021 ◽  
Vol 13 (10) ◽  
pp. 5411
Author(s):  
Elisabeth Bloder ◽  
Georg Jäger
Keyword(s):  
Climate Change ◽  
High Risk ◽  
Urban Areas ◽  
The Other ◽  
Agent Based ◽  
Traffic Lights ◽  
Traffic System ◽  
Rebound Effects ◽  
Car Use ◽  
Reduce Emissions

Traffic and transportation are main contributors to the global CO2 emissions and resulting climate change. Especially in urban areas, traffic flow is not optimal and thus offers possibilities to reduce emissions. The concept of a Green Wave, i.e., the coordinated switching of traffic lights in order to favor a single direction and reduce congestion, is often discussed as a simple mechanism to avoid breaking and accelerating, thereby reducing fuel consumption. On the other hand, making car use more attractive might also increase emissions. In this study, we use an agent-based model to investigate the benefit of a Green Wave in order to find out whether it can outweigh the effects of increased car use. We find that although the Green Wave has the potential to reduce emissions, there is also a high risk of heaving a net increase in emissions, depending on the specifics of the traffic system.

Hypertriglyceridemia: Apheretic Treatment

2005 ◽  
Vol 28 (10) ◽  
pp. 1018-1024 ◽  
Author(s):  
G. Giannini ◽  
M. Valbonesi ◽  
F. Morelli ◽  
P. Carlier ◽  
M.C. De Luigi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Pancreatitis ◽  
Bone Marrow Transplantation ◽  
High Risk ◽  
Cyclosporin A ◽  
Marrow Transplantation ◽  
Removal Rate ◽  
The Other ◽  
Two Factors ◽  
High Triglyceride

Patients with extremely high triglyceride levels and associated lipemia are at high risk for acute pancreatitis. Two factors can increase triglyceride-rich lipoproteins; one is overproduction and other is a defect in clearance. Either mechanism can cause hypertriglyceridemia and both may exist simultaneously. Causes can be either primary or secondary. Plasmapheresis is efficacious for severe hypertryceridemia in patients who have not responded to previous therapies. We have treated 15 cases of hypertrygliceridemia complicating the course of patients receiving Cyclosporin A after bone marrow transplantation. Five patients were treated with plasmapheresis, the other ten with cascade filtration. The removal rate for triglycerides was 58.0% for patients treated by cascade filtration and 63.5% for patients treated by plasmapheresis. The removal rates for triglycerides were low possibly as a consequence of early saturation of the filter.

Quality of parenting and vulnerability to depression: results from a family study

1998 ◽  
Vol 28 (1) ◽  
pp. 185-191 ◽  
Author(s):  
C. DUGGAN ◽  
P. SHAM ◽  
C. MINNE ◽  
A. LEE ◽  
R. MURRAY
Keyword(s):  
Mental Illness ◽  
Family Study ◽  
Past History ◽  
Familial Risk ◽  
Self Report ◽  
History Of ◽  
Quality Of Parenting ◽  
Independent Effects ◽  
The Relationship ◽  
History Of Depression

Background. We examined a group of subjects at familial risk of depression and explored the relationship between the perceptions of parents and a history of depression. We also investigated: (a) whether any difference in perceived parenting found between those with and without a past history of depression was an artefact of the depression; and (b) whether the relationship between parenting and depression was explained by neuroticism.Method. We took a sample of first-degree relatives selected from a family study in depression and subdivided them by their history of mental illness on the SADS-L, into those: (a) without a history of mental illness (N=43); and (b) those who had fully recovered from an episode of RDC major depression (N=34). We compared the perceptions of parenting, as measured by the Parental Bonding Instrument (PBI), in these two groups having adjusted for the effect of neuroticism and subsyndromal depressive symptoms. We also had informants report on parenting of their siblings, the latter being subdivided into those with and without a past history of depression.Results. Relatives with a past history of depression showed lower care scores for both mother and father combined compared with the never ill relatives. The presence of a history of depression was associated with a non-significant reduction in the self-report care scores compared to the siblings report. Vulnerable personality (as measured by high neuroticism) and low perceived care were both found to exert independent effects in discriminating between the scores of relatives with and without a history of depression and there was no interaction between them.Conclusion. This study confirmed that low perceived parental care was associated with a past history of depression, that it was not entirely an artefact of having been depressed, and suggested that this association was partially independent of neuroticism.

Pannexin channels and their links to human disease

2014 ◽  
Vol 461 (3) ◽  
pp. 371-381 ◽  
Author(s):  
Silvia Penuela ◽  
Luke Harland ◽  
Jamie Simek ◽  
Dale W. Laird
Keyword(s):  
Infectious Diseases ◽  
Human Disease ◽  
Potential Role ◽  
Germ Line ◽  
Disease Onset ◽  
The Other ◽  
Present Review ◽  
Germ Line Mutations ◽  
Genes Encoding ◽  
Intracellular Compartments

In less than a decade, a small family of channel-forming glycoproteins, named pannexins, have captured the interest of many biologists, in large part due to their association with common diseases, ranging from cancers to neuropathies to infectious diseases. Although the pannexin family consists of only three members (Panx1, Panx2 and Panx3), one or more of these pannexins are expressed in virtually every mammalian organ, implicating their potential role in a diverse array of pathophysiologies. Panx1 is the most extensively studied, but features of this pannexin must be cautiously extrapolated to the other pannexins, as for example we now know that Panx2, unlike Panx1, exhibits unique properties such as a tendency to be retained within intracellular compartments. In the present review, we assess the biochemical and channel features of pannexins focusing on the literature which links these unique molecules to over a dozen diseases and syndromes. Although no germ-line mutations in genes encoding pannexins have been linked to any diseases, many cases have shown that high pannexin expression is associated with disease onset and/or progression. Disease may also occur, however, when pannexins are underexpressed, highlighting that pannexin expression must be exquisitely regulated. Finally, we discuss some of the most pressing questions and controversies in the pannexin field as the community seeks to uncover the full biological relevance of pannexins in healthy organs and during disease.

scholarly journals Polygenic risk for schizophrenia, transition and cortical gyrification: a high-risk study

2017 ◽  
Vol 48 (9) ◽  
pp. 1532-1539 ◽  
Author(s):  
E. Neilson ◽  
C. Bois ◽  
T.-K. Clarke ◽  
L. Hall ◽  
E. C. Johnstone ◽  
...  
Keyword(s):  
High Risk ◽  
Risk Score ◽  
Familial Risk ◽  
Positive Association ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Score Analysis ◽  
Increased Risk ◽  
Heritable Disorder ◽  
Diagnostic Symptoms

AbstractBackgroundSchizophrenia is a highly heritable disorder, linked to several structural abnormalities of the brain. More specifically, previous findings have suggested that increased gyrification in frontal and temporal regions are implicated in the pathogenesis of schizophrenia.MethodsThe current study included participants at high familial risk of schizophrenia who remained well (n= 31), who developed sub-diagnostic symptoms (n= 28) and who developed schizophrenia (n= 9) as well as healthy controls (HC) (n= 16). We first tested whether individuals at high familial risk of schizophrenia carried an increased burden of trait-associated alleles using polygenic risk score analysis. We then assessed the extent to which polygenic risk was associated with gyral folding in the frontal and temporal lobes.ResultsWe found that individuals at high familial risk of schizophrenia who developed schizophrenia carried a significantly greater burden of risk-conferring variants for the disorder compared to those at high risk (HR) who developed sub-diagnostic symptoms or remained well and HC. Furthermore, within the HR cohort, there was a significant and positive association between schizophrenia polygenic risk score and bilateral frontal gyrification.ConclusionsThese results suggest that polygenic risk for schizophrenia impacts upon early neurodevelopment to confer greater gyral folding in adulthood and an increased risk of developing the disorder.

Association study designs for complex diseases

2001 ◽  
Vol 2 (2) ◽  
pp. 91-99 ◽  
Author(s):  
Lon R. Cardon ◽  
John I. Bell
Keyword(s):  
Association Study ◽  
Complex Diseases ◽  
Study Designs
Sign in / Sign up

Export Citation Format

Share Document