scholarly journals Eugen Bleuler’s Views on the Genetics of Schizophrenia in 1917

2020 ◽  
Vol 46 (4) ◽  
pp. 758-764
Author(s):  
Kenneth S Kendler
Keyword(s):  
Risk Factors ◽  
Family Study ◽  
Current Knowledge ◽  
Genetic Models ◽  
Single Locus ◽  
Transmission Model ◽  
Dementia Praecox ◽  
Genetic Transmission ◽  
The Many ◽  
Complete Translation

Abstract In 1917, Eugen Bleuler published an article (Mendelismus bei Psychosen, speziell bei der Schizophrenie [Mendelism in the Psychoses, especially Schizophrenia]) in response to the recently published first systematic family study of dementia praecox (DP) by Ernst Rüdin, then working under Kraepelin in Munich. Although briefly commented upon by David Rosenthal in 1978, this article has never been thoroughly reviewed or translated. Of the many themes addressed, four are especially noteworthy. First, Bleuler argues that understanding the transmission patterns of schizophrenia in families requires definitive knowledge about the boundaries of the phenotype which he argues are unknown. Rüdin’s choice—Kraepelin’s concept of DP—is, he asserts, too narrow. Clarifying the genetics of schizophrenia is inextricably bound up with the problem of defining the phenotype. Second, Bleuler argues for the importance of “erbschizose” (literally “inherited schizoidia”) wondering whether his “4 As” or other “brain-anatomical, chemical, [or] neurological characteristics” might underlie the genetic transmission of schizophrenia. Third, Bleuler was deeply interested in the nature of the onset of schizophrenia, suggesting that environmental adversity could provoke “latent illness to become manifest.” It was important, he argued, to identify such risk factors and incorporate them into genetic models. Fourth, although not optimistic that current knowledge would permit a resolution of the transmission model for schizophrenia, he finds single-locus models implausible and at several points wonders whether polygenic models might better apply. A complete translation of the article is provided.

Schizophrenia: still Kraepelin's Dementia Praecox?

2004 ◽  
Vol 13 (2) ◽  
pp. 99-112 ◽  
Author(s):  
Heinz Häfner
Keyword(s):  
Risk Factors ◽  
Cross Sections ◽  
Age Of Onset ◽  
Current Knowledge ◽  
Disease Process ◽  
Research Network ◽  
First Episode ◽  
Healthy Population ◽  
Dementia Praecox ◽  
German Research

SummaryAsking whether E. Kraepelin's early dementia praecox and disease concepts (1896) are still valid today, we condensed his early theory into four theses:1) schizophrenia is a disease entity, distinguishable from affective psychosis. 2) It is caused by a specific neuropathology. 3) It usually manifests itself in adolescence or early adulthood. 4) Underlying schizo- phrenia is a progressive disease process that leads to defects and dementia.Having tested whether Kraepelin's dementia praecox and modern schizophrenia are actually comparable, we studied 1) how schizophrenia and depression are linked or separable in terms of symptoms, risk factors and illness course from onset until five years after first treatment contact. The analyses are based on a population-based sample of 130 first admissions because of schiz- ophrenia, 130 age- and sex-matched first admissions because of unipolar depressive disorder and 130 “healthy” population con- trols from the study area. 2) Results will be presented that, though not very specific, confirm Kraepelin's farsighted hypothesis of a neuropathological basis of the disorder. In this context it will be discussed whether the brain changes are developmental or degenerative in origin. 3) The distribution of age of onset extends far into old age. In a sample of 1109 consecutive first admis- sions because of nonaffective psychosis from the total age range it was shown that age-dependent developmental factors mod- ify certain components of symptomatology linearly and significantly. The main risk factors, too, significantly change with age. 4) Long-term course was examined in three studies of epidemiologically recruited first-episode samples: Study 1 included five cross sections over 5 years, Study 2 was a prospective pre-post-comparison over 12 years supplemented by a retrospective assessment of the illness course (IRAOS) and Study 3 encompassed 10 cross sections over fifteen years. Finally, the disease concept of schizophrenia, as it presents itself in the light of current knowledge, will be outlined and compared with Kraepelin's earlier and later view of the disorder.Declaration of Interestthe paper is based on a lecture (Lettura magistrale) presented at the SIEP Sesto Congresso Nazionale, “Gli Esiti della Schizofrenia - Trattamenti, Pratica nei Servizi, Valutazione” in Sirmione, November 6-8, 2003. Unfortunately, the illustrations shown there and some 20 % of the relevant references could not be included in this printed ver- sion for lack of space. This paper was written within the framework of the German Research Network on Schizophrenia and was funded by the German Federal Ministry for Education and Research BMBF (grant 01GI 0236). The ABC study was supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) as part of the Special Research Branch (Sonderforschungsbereich) 258 at the Central Institute of Mental Health until December 1998. From January 1999 to Sept. 2002 it was continued to be funded by the DFG.

Heracles and epilepsy: the sacred disease

2020 ◽  
Vol 78 (10) ◽  
pp. 660-662
Author(s):  
Eduardo ORREGO-GONZÁLEZ ◽  
Ana PERALTA-GARCÍA ◽  
Leonardo PALACIOS-SÁNCHEZ
Keyword(s):  
Current Knowledge ◽  
Greek Mythology ◽  
Corpus Hippocraticum ◽  
Ancient Times ◽  
The Many

ABSTRACT Epilepsy is one of the most dreaded and terrifying human afflictions. One of the many names it has received was Sacred Disease, during Greek times. Heracles served as a source of the divine connotation that epilepsy received in ancient times, as he was one of the most important demigods in Greek mythology. However, several authors have attributed Heracles’ actions to a seizure, including Hippocrates, who described the sacred disease on his “Corpus Hippocraticum.” This paper reviewed some of the publications on the myth and content of the text of Hippocrates, in relation to the current knowledge of the disease.

scholarly journals Going “Green” in the Prevention and Management of Atherothrombotic Diseases: The Role of Dietary Polyphenols

2021 ◽  
Vol 10 (7) ◽  
pp. 1490
Author(s):  
Ana Reis ◽  
Sara Rocha ◽  
Victor de Freitas
Keyword(s):  
Risk Factors ◽  
Fruits And Vegetables ◽  
Current Knowledge ◽  
Cholesterol Biosynthesis ◽  
Dietary Polyphenols ◽  
Nutritional Strategy ◽  
Flavonoid Intake ◽  
Health Promoting ◽  
Socio Economic Impact ◽  
The Impact

During the 20th century processed and ready-to-eat foods became routinely consumed resulting in a sharp rise of fat, salt, and sugar intake in people’s diets. Currently, the global incidence of obesity, raised blood lipids, hypertension, and diabetes in an increasingly aged population contributes to the rise of atherothrombotic events and cardiovascular diseases (CVD) mortality. Drug-based therapies are valuable strategies to tackle and help manage the socio-economic impact of atherothrombotic disorders though not without adverse side effects. The inclusion of fresh fruits and vegetables rich in flavonoids to human diets, as recommended by WHO offers a valuable nutritional strategy, alternative to drug-based therapies, to be explored in the prevention and management of atherothrombotic diseases at early stages. Though polyphenols are mostly associated to color and taste in foods, food flavonoids are emerging as modulators of cholesterol biosynthesis, appetite and food intake, blood pressure, platelet function, clot formation, and anti-inflammatory signaling, supporting the health-promoting effects of polyphenol-rich diets in mitigating the impact of risk factors in atherothrombotic disorders and CVD events. Here we overview the current knowledge on the effect of polyphenols particularly of flavonoid intake on the atherothrombotic risk factors and discuss the caveats and challenges involved with current experimental cell-based designs.

scholarly journals Familial Aggregation of Blood Lipid Response to Exercise Training in the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family Study

Circulation ◽  
2002 ◽  
Vol 105 (16) ◽  
pp. 1904-1908 ◽  
Author(s):  
Treva Rice ◽  
Jean-Pierre Després ◽  
Louis Pérusse ◽  
Yuling Hong ◽  
Michael A. Province ◽  
...  
Keyword(s):  
Risk Factors ◽  
Exercise Training ◽  
Health Risk ◽  
Family Study ◽  
Familial Aggregation ◽  
Blood Lipid ◽  
Health Risk Factors ◽  
Lipid Response ◽  
Response To Exercise

scholarly journals AB0815 FIRST DEGREE RELATIVES OF PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS - CLINICAL, SEROLOGICAL AND IMMUNOLOGICAL CORRELATIONS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1432.2-1432
Author(s):  
B. Penev ◽  
G. Vasilev ◽  
D. Kyurkchiev ◽  
S. Monov
Keyword(s):  
Risk Factors ◽  
Systemic Lupus Erythematosus ◽  
Connective Tissue ◽  
Lupus Erythematosus ◽  
Current Knowledge ◽  
Statistical Significance ◽  
Clinical Signs ◽  
Connective Tissue Diseases ◽  
Pharmaceutical Products ◽  
Systemic Lupus

Background:Antinuclear antibodies (ANA) have been unequivocally recognized as essential for diagnosis and play both pathogenic and diagnostic roles in systemic lupus erythematosus (SLE). SLE and ANA have also been found to be more often among relatives of SLE patients. ANA and other immunological changes are known to appear prior to the clinical onset of the disease and thus can be used as predictors. Studies have reported that relatives of SLE patients who later transitioned to SLE displayed more lupus-associated autoantibody specificities and had early clinical signs. They also displayed elevated baseline plasma levels of inflammatory mediators, including B-lymphocyte stimulator (BLyS) and interferon-associated chemokines, with concurrent decreases in levels of regulatory mediators, e.g. tumor growth factor (TGF)-β. Commonly recognized risk factors for SLE are signs of past Epstein-Barr (EBV) infection, use of estrogen drugs and current smoking. It seems that ANA, immunologic changes and risk factors have not been investigated together in relatives of SLE patients.Objectives:The aim of the study was to determine the relative prevalence of clinical signs of SLE or connective tissue disease (CTD), smoking, use of estrogen drugs and levels of circulating ANA, BLyS, IFN-α, TGF-β, anti-EBV viral capsid antigen (VCA) IgM and IgG antibodies among sera of FDR, non-FDR healthy individuals and SLE patients.Methods:Forty three FDRs of SLE patients were studied along with 15 SLE patients and 15 clinically healthy subjects as control groups. The FDRs and the healthy answered a questionnaire about early clinical signs of CTD, smoking and estrogen use history. The questionnaire was developed based on the existing Screening Questionnaire for Connective Tissue Diseases and current knowledge of most early signs of CTD. Blood samples were obtained and tested for ANA, both by indirect immunofluorescence and immunoblot, anti-dsDNA by ELISA. ELISA was also performed to measure levels of BLys, IFN-α, TGF-β, anti-EBV IgM and IgG.Results:More than half of the FDRs displayed ANA in titer 1:160 or more, with predominately AC-4 type of fluorescence according to International Classification on ANA Patterns (ICAP) compared to only AC-1 and AC-0 among patients and controls respectively. A correlation between the ANA titer and the number of complaints was found. This was particularly valid or reported skin complaints and oral ulcers which appeared more frequently when ANA was 1:320 or above (p=0,018 and 0,038 respectively). Furthermore, oral ulcerations showed positive correlation with the presence of anti-Ro60. No associations were found in the healthy group between reported complaints and ANA titers. Smoking and estrogen use did not differ across the three groups. Patients showed significant differences in levels of BLys (p=0,027), TGF-β (p=0,019) and anti-EBV IgG (p=0.041) compared to both FDRs and controls. Without reaching statistical significance, levels of TGF-β tend to split the FDR group into “healthy-like” and “SLE-like”.Conclusion:Our results show that FDR ANA levels are between those of SLE patients and healthy subject groups. This is consistent with previous studies. The data also suggest that ANA positivity correlates with reported complaints, some of which could be interpreted as very early clinical signs of SLE. Of note, anti-Ro60 is known to be among the earliest ANA that appear in “future” SLE patients and in this study they are related to oral complaints that could be caused by early sicca phenomena. Immunologically, our data support previous findings [1] that the FDRs are a heterogenic group with different “lupus-developing” potential.References:[1]Munroe МE. et al, Soluble Mediators and Clinical Features Discern Risk of Transitioning to Classified Disease in Relatives of Systemic Lupus Erythematosus Patients, Arthritis Rheumatol. 2017 March; 69(3): 630–642.Disclosure of Interests:Bogdan Penev: None declared, Georgi Vasilev: None declared, Dobroslav Kyurkchiev: None declared, Simeon Monov Speakers bureau: I have been paid for giving lectures on statistical data on efficacy of many pharmaceutical products on various companies

scholarly journals Etiology and Risk Factors for Rheumatoid Arthritis: A State-of-the-Art Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Vasco C. Romão ◽  
João Eurico Fonseca
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Disease Risk ◽  
State Of The Art ◽  
Current Knowledge ◽  
Epidemiological Studies ◽  
Complex Interactions ◽  
Significant Burden ◽  
Risk Of Disease ◽  
Societal Level

Rheumatoid arthritis (RA) is the most common systemic inflammatory rheumatic disease. It is associated with significant burden at the patient and societal level. Extensive efforts have been devoted to identifying a potential cause for the development of RA. Epidemiological studies have thoroughly investigated the association of several factors with the risk and course of RA. Although a precise etiology remains elusive, the current understanding is that RA is a multifactorial disease, wherein complex interactions between host and environmental factors determine the overall risk of disease susceptibility, persistence and severity. Risk factors related to the host that have been associated with RA development may be divided into genetic; epigenetic; hormonal, reproductive and neuroendocrine; and comorbid host factors. In turn, environmental risk factors include smoking and other airborne exposures; microbiota and infectious agents; diet; and socioeconomic factors. In the present narrative review, aimed at clinicians and researchers in the field of RA, we provide a state-of-the-art overview of the current knowledge on this topic, focusing on recent progresses that have improved our comprehension of disease risk and development.

Pathophysiology of telangiectasias of the lower legs and its therapeutic implication: A systematic review

2018 ◽  
Vol 33 (4) ◽  
pp. 225-233 ◽  
Author(s):  
P Kern
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Current Knowledge ◽  
Clinical Perspective ◽  
Review Of The Literature ◽  
Venous Plexus ◽  
Treatment Results ◽  
Therapeutic Implications ◽  
Improve Treatment ◽  
Tissue Abnormalities

Objective Telangiectasias of the lower legs are intradermal dilatations of the subpapillary venous plexus, but their pathophysiology and risk factors are still largely unknown. The purpose of this review is to summarize the current knowledge on the pathophysiology and risk factors for telangiectasias. Methods A systematic review of the literature indexed in Medline completed with textbooks and European phlebology journals from the French, Swiss, and German phlebology societies was performed. Results A multitude of risk factors and several pathophysiological hypotheses, such as reflux, arterio-venous micro-shunts, parietal, and connective tissue abnormalities, are described in the literature. The different hypotheses are discussed and put in a clinical perspective, in particular their therapeutic implications for phlebologists. Conclusion In conclusion, pathophysiology and risk factors of telangiectasias are still largely unknown, and a better understanding could improve treatment results and reduce recurrence.

Abstract 16704: Leukocyte Telomere Length and Risk of Stroke: The Strong Heart Family Study

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Caroline Goode ◽  
Jinying Zhao ◽  
Richard B Devereux ◽  
Santosh Murthy ◽  
Alexander E Merkler ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Atrial Fibrillation ◽  
Telomere Length ◽  
Family Study ◽  
Leukocyte Telomere Length ◽  
Potential Biomarker ◽  
Primary Model ◽  
Strong Heart Family Study

Introduction: Leukocyte telomere length (LTL) is a potential biomarker of aging and associated with several age-related diseases. Current research on an association between LTL and incident stroke has had inconclusive results. We hypothesized that LTL is associated with incident stroke among American Indians (AI) in the Strong Heart Family Study (SHFS). Methods: The SHFS is a population-based cohort study of cardiovascular disease (CVD) and its risk factors. Participants (n=2,769) recruited from regions in Arizona, Oklahoma and the Dakotas were assessed for LTL and CVD risk factors during a clinic visit between 2001 and 2003. Incident stroke events were identified through the end of 2018 (mean follow-up: 16.4 years). We assessed the association between LTL and incident stroke using frailty models based on the proportional hazards, accounting for family relatedness and established stroke risk factors that include sex, geographical location, education, smoking, atrial fibrillation, diabetes mellitus, and hypertension. Results: Among 2,769 participants, the mean age was 40.6±17.2 and 41.4% were male. During follow-up, there were 79 (2.9%) incident stroke cases. In the primary model, which adjusted for demographic variables (sex, location and education), the hazard ratios (HR) for stroke in participants in the first and second LTL quartiles were significantly higher than those in the highest (longest) LTL quartile, with HRs of 3.1 (95%CI: 1.4 - 6.6) and 3.5 (95%CI: 1.7 - 7.5), respectively. After adjusting for smoking, atrial fibrillation, diabetes mellitus, and hypertension, the association between LTL and stroke was attenuated, but remained significant when comparing the second shortest LTL quartile to the longest LTL quartile, HR: 2.3 (95% CI: 1.1 – 5.0). Conclusions: In summary, LTL was associated with incident stroke among SHFS participants. Those with shorter LTL have higher risk of stroke. Longer follow-up time may add more power to data analyses since the SHFS is relatively young, with an average baseline age of 40 years. If results are confirmed in other populations, LTL may serve as a biomarker identifying high risk individuals for the purpose of stroke prevention.

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