scholarly journals Minor Physical Anomalies and their Relationship to the Aetiology of Schizophrenia

1996 ◽  
Vol 168 (2) ◽  
pp. 139-142 ◽  
Author(s):  
Kieran C. Murphy ◽  
Michael J. Owen
Keyword(s):  
Psychiatric Disorders ◽  
Genetic Factors ◽  
Review Of The Literature ◽  
Critical Events ◽  
Developmental Abnormalities ◽  
Neurodevelopmental Model ◽  
Minor Physical Anomalies ◽  
The Relationship

BackgroundPrevious reports have suggested an increased prevalence of minor physical anomalies (MPAs) in schizophrenia.MethodA review of the literature was performed to examine the relationship between MPAs, schizophrenia and other disorders.ResultsPrevious studies demonstrate a number of methodological shortcomings. Moreover, MPAs are found in several other psychiatric disorders. Proponents of the neurodevelopmental model of schizophrenia have focused on an environmental explanation for the increased prevalence of MPAs. We argue that this may be overly simplistic and propose various ways in which genetic factors may also be involved.ConclusionsBetter studies should be performed to examine more precisely the nature of MPAs in schizophrenia and other disorders and also the relationship between MPAs and other developmental abnormalities. At present, it is unclear if MPAs are directly related to the pathogenesis of the disorder or even if they are related to the timing of critical events.

Psychiatric Disorders in Foster Home Reared Children of Schizophrenic Mothers

1966 ◽  
Vol 112 (489) ◽  
pp. 819-825 ◽  
Author(s):  
Leonard L. Heston
Keyword(s):  
General Population ◽  
Psychiatric Disorders ◽  
Genetic Factors ◽  
Foster Home ◽  
The Relationship

The place of genetic factors in the aetiology of schizophrenia remains disputed. Several surveys have demonstrated a significantly higher incidence of the disorder in relatives of schizophrenic persons as compared to the general population. Furthermore, the closer the relationship, the higher the incidence of schizophrenia. The studies of Kallmann (1938) and Slater (1953) are especially significant and the research in this area has been thoroughly reviewed by Alanen (1958).

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

Молекулярная биология менингиом головного мозга

2017 ◽  
pp. 82-91
Author(s):  
В.А. Бывальцев ◽  
И.А. Степанов ◽  
Е.Г. Белых ◽  
А.И. Яруллина
Keyword(s):  
Gene Therapy ◽  
Proton Therapy ◽  
Genetic Factors ◽  
Intracranial Tumor ◽  
Molecular Profile ◽  
Genetic Changes ◽  
Treatment Techniques ◽  
Downstream Effects ◽  
Si Rna ◽  
The Relationship

Цель обзора - анализ современных данных литературы о нарушении внутриклеточных сигнальных путей, играющих ведущую роль в развитии менингиом, генетических и молекулярных профилях данной группы опухолей. К настоящему времени изучено множество аберрантных сигнальных внутриклеточных путей, которые играют важнейшую роль в развитии менингиом головного мозга. Четкое понимание поврежденных внутриклеточных каскадов поможет изучить влияние генетических мутаций и их эффектов на менингиомогенез. Подробное исследование генетического и молекулярного профиля менингиом позволит сделать первый уверенный шаг в разработке более эффективных методов лечения данной группы интракраниальных опухолей. Хромосомы 1, 10, 14, 22 и связанные с ними генные мутации ответственны за рост и прогрессию менингиом. Предполагается, что только через понимание данных генетических повреждений будут реализованы новейшие эффективные методы лечения. Будущая терапия будет включать в себя комбинации таргетных молекулярных агентов, в том числе генную терапию, малые интерферирующие РНК, протонную терапию и другие методы воздействия, как результат дальнейшего изучения генетических и биологических изменений, характерных для менингеальных опухолей. Meningiomas are by far the most common tumors arising from the meninges. A myriad of aberrant signaling pathways involved with meningioma tumorigenesis, have been discovered. Understanding these disrupted pathways will aid in deciphering the relationship between various genetic changes and their downstream effects on meningioma pathogenesis. An understanding of the genetic and molecular profile of meningioma would provide a valuable first step towards developing more effective treatments for this intracranial tumor. Chromosomes 1, 10, 14, 22, their associated genes, have been linked to meningioma proliferation and progression. It is presumed that through an understanding of these genetic factors, more educated meningioma treatment techniques can be implemented. Future therapies will include combinations of targeted molecular agents including gene therapy, si-RNA mediation, proton therapy, and other approaches as a result of continued progress in the understanding of genetic and biological changes associated with meningiomas.

scholarly journals The Relationship between Suicidality and Socio-Demographic Variables, Physical Disorders, and Psychiatric Disorders: Results from the Singapore Mental Health Study 2016

2021 ◽  
Vol 18 (8) ◽  
pp. 4365
Author(s):  
Kundadak Ganesh Kudva ◽  
Edimansyah Abdin ◽  
Janhavi Ajit Vaingankar ◽  
Boon Yiang Chua ◽  
Saleha Shafie ◽  
...  
Keyword(s):  
Mental Health ◽  
Suicidal Ideation ◽  
Psychiatric Disorders ◽  
Population Level ◽  
Risk Groups ◽  
Epidemiological Survey ◽  
Health Study ◽  
Physical Disorders ◽  
Mental Health Study ◽  
The Relationship

Suicidality encompasses suicidal ideation, plans, and attempts. This paper aims to establish associations between suicidality and sociodemographic variables, physical disorders, and psychiatric disorders. The Singapore Mental Health Study 2016 was a population-level epidemiological survey, which determined the prevalence of physical disorders, psychiatric disorders, and suicidality. Questionnaires were used to determine socio-demographic information. A total of 6216 respondents were interviewed. Lifetime prevalence of suicidal ideation, planning, and attempts were 7.8%, 1.6%, and 1.6%, respectively. All components of suicidality were more likely in those with major depressive disorder, bipolar disorder, generalized anxiety disorder, alcohol use disorder, and chronic pain. Suicidal ideation and attempts were more likely in those with diabetes. Age above 65, being male, and a monthly household income of ≥ SGD 10,000 were associated with a lower likelihood of suicidal ideation. These findings indicate that there are high-risk groups for whom suicidality is a concern, and for whom interventions may be needed.

scholarly journals Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska
Keyword(s):  
Valproic Acid ◽  
Acute Pancreatitis ◽  
Metabolic Disorders ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Gallstone Disease ◽  
Young Patients ◽  
Case Series ◽  
Review Of The Literature ◽  
Acid Therapy

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.

Invited Review: Pharmacogenetics of estrogen replacement therapy

2001 ◽  
Vol 91 (6) ◽  
pp. 2776-2784 ◽  
Author(s):  
David M. Herrington ◽  
Karen Potvin Klein
Keyword(s):  
Estrogen Replacement Therapy ◽  
Genetic Factors ◽  
Estrogen Receptor Α ◽  
Estrogen Replacement ◽  
Risk Gene ◽  
Thrombosis Risk ◽  
Venous Thromboembolic Events ◽  
Venous Thromboembolic ◽  
Relationship Of ◽  
The Relationship

There are a number of genetic factors that likely modulate both the beneficial and adverse effects of estrogen. An important domain of consideration is the relationship of estrogen and thrombosis risk. Gene polymorphisms among the key elements of the coagulation and fibrinolytic cascade appear to influence the effects of estrogen on risk for venous thromboembolic events and possibly arterial thrombosis as well. Emerging data also suggest that allelic variants in the estrogen receptor-α may modulate estrogen's effects, especially with respect to bone and lipid metabolism.

scholarly journals Role of the relationship between dyslipidemia and genetic factors in the development of atherosclerosis

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P708-P708
Author(s):  
S. Hata ◽  
M. Nakazato ◽  
T. Sekita ◽  
T. Maeda ◽  
T. Kanda
Keyword(s):  
Genetic Factors ◽  
The Relationship

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 266-271 ◽  
Author(s):  
B Zakrzewska-Pniewska ◽  
M Styczynska ◽  
A Podlecka ◽  
R Samocka ◽  
B Peplonska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Brain Atrophy ◽  
Genetic Factors ◽  
Clinical Course ◽  
Progression Rate ◽  
Disease Course ◽  
Familial Cases ◽  
Sporadic Cases ◽  
The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

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