scholarly journals Study of Early Onset Schizophrenia: Associations of GRIN2A and GRIN2B Polymorphisms

Life ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 997
Author(s):  
Evgeniya G. Poltavskaya ◽  
Olga Yu. Fedorenko ◽  
Elena G. Kornetova ◽  
Anton J.M. Loonen ◽  
Alexander N. Kornetov ◽  
...  

Background: Schizophrenia is a complex mental disorder with a high heritability. Dysfunction of the N-methyl-D-aspartate (NMDA)-type glutamate receptors may be involved in the pathogenesis of schizophrenia. In this study, we examined the contribution of GRIN2A and GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2A/2B) polymorphisms to the clinical features of schizophrenia, such as the leading symptoms, the type of course, and the age of onset. Methods: A population of 402 Russian patients with schizophrenia from the Siberian region was investigated. Genotyping of seventeen single-nucleotide polymorphisms (SNPs) in GRIN2A and GRIN2B was performed using QuantStudio™ 3D Digital PCR System Life Technologies amplifier using TaqMan Validated SNP Genotyping Assay kits (Applied Biosystems). The results were analyzed using Chi-square and the Fisher’s exact tests. Results: We found an association of GRIN2A rs7206256 and rs11644461 and GRIN2B rs7313149 with the early onset (before the age of 18 years old) schizophrenia. We did not reveal any associations of GRIN2A and GRIN2B polymorphisms with leading (positive vs. negative) symptoms or type of course (continuous vs. episodic) of schizophrenia. Conclusions: In the study, we confirmed the involvement of the GRIN2A and GRIN2B genes in the early onset of schizophrenia in a Russian population of the Siberian region.

Author(s):  
Poornima Shankar ◽  
Kavitha Karthikeyan ◽  
Amrita Priscilla Nalini ◽  
Sindhura M. ◽  
Gowtham Kim

Background: Preeclampsia is being increasingly recognized as two different entities: early-onset preeclampsia occurring at less than 34 weeks of gestation, and late-onset disease occurring at 34 or more weeks of gestation. Early-onset and late-onset pre-eclampsia are found to have different implications for the mother and neonate. The aim of this study is to compare the risk factors, maternal and fetal outcomes in early (<34 weeks) versus late (≥34weeks) onset preeclampsia.Methods: 208 patients diagnosed with pre-eclampsia in Chettinad Academy of Research and Education over a period of three years (From January 2014 to December 2016) were retrospectively studied. Patients were classified as early onset and late onset pre-eclampsia based on the gestational age of onset. Data on risk factors, maternal and fetal outcomes were collected and analyzed using Chi Square and Fisher’s test and compared.Results: The overall preeclampsia rate was 6.3%. Early onset and late onset were 34.6% and 65.3% respectively and the rate increased with increasing gestational age.35.3% of patients with late onset preeclampsia and 55.6% patients of early onset type required more than one drug which is a statistically significant difference. Proteinuria more than 3gm/l/day was significantly more in late onset preeclampsia than in early onset preeclampsia. 55.5% of patients with early onset pre-eclampsia required MgSO4 when compared to 17.4%. There was no statistically significant difference in the rate of caesarean section (61.1% vs 73.5%). Altered coagulation profile was significantly more in early onset preeclampsia (11.1%). The incidence of oligohydramnios, SGA and low APGAR at 5 minutes of birth were significantly high in early onset pre-eclampsia when compared to late onset type.Conclusions: Patients with early onset pre-eclampsia are found to have significantly higher rates of specific maternal and fetal morbidity when compared to the late onset type.


2021 ◽  
Vol 8 (5) ◽  
pp. 900
Author(s):  
Vikram R.

Background: Pre-eclampsia is typed as two different entities: early-onset preeclampsia occurring at less than 34 weeks of gestation, and late-onset occurring at 34 or more weeks of gestation. The aim of this study is to compare the fetal and neonatal outcomes in early versus late onset preeclampsia.Methods: 208 patients diagnosed with pre-eclampsia in Shri Sathya Sai medical college and research institute over a period of three years (From January 2016 to January 2019) were retrospectively studied. Patients were classified as early onset and late onset pre-eclampsia based on the gestational age of onset. Data on fetal and neonatal outcomes were collected and analysed using Chi square and Fisher’s test and compared.Results:  Early onset and late onset pre-eclampsia were 34.6% and 65.3%. The incidence of oligohydramnios, SGA, low APGAR at 5 minutes of birth were high in early onset type. 64.9% of early onset type required NICU admission whereas only 38.23% new born of mothers with late onset type required NICU admissions.10.8% of babies of patients with early onset type were still born. The incidence of NICU admissions, requirement of respiratory support, duration of NICU stay were significantly high in early onset type.Conclusions: Patients with early onset pre-eclampsia are found to have higher rates of specific fetal and neonatal morbidity when compared to the late onset type. Prudent and close scrutinizing and follow up and delaying delivery in stable and appropriately selected patients with pre-eclampsia would be advantageous for neonates.


2015 ◽  
Vol 24 (2) ◽  
pp. 90-96
Author(s):  
Marius Cherciu ◽  
◽  
Luis Ovidiu Popa ◽  
Mihai Bojinca ◽  
Monica Irina Dutescu ◽  
...  

Objective. Our aim was to investigate whether two ERAP1 gene variants, rs30187 and rs27044, influence the clinical characteristics of ankylosing spondylitis (AS) (the age of onset and the type of articular manifestations - axial or mixed) in Romanian patients. Methods. We studied 94 AS patients and 139 healthy controls. The method used for genotyping the two non-synonymous single nucleotide polymorphisms (SNPs) was real-time polymerase chain reaction. Association tests were carried out using PLINK 1.07 software. We analyzed separately the subgroups of AS patients with early onset (age <30 years) and late onset (age > 30 years), as well as the subgroups of patients with axial manifestations and mixed manifestations (axial and peripheral). Results. Significant association between ERAP1 polymorphisms and AS is only present for patients who experienced an early onset (p = 0.04 for rs30187 and p = 0.007 for rs27044) and not for those with late onset (p = 0.32 for rs30187 and p = 0.29 for rs27044). Polymorphism rs30187 is associated only with the axial form of AS (p = 0.02), while rs27044 is associated only with the mixed form of the disease (p = 0.02). Conclusions. Our findings demonstrate a consistent association between the studied ERAP1 gene SNPs and certain phenotypic characteristics of AS, suggesting that these gene variants may influence the AS onset and the presence of axial or mixed manifestations of AS.


2021 ◽  
Vol 10 (11) ◽  
pp. 2474
Author(s):  
Mariola Molina-García ◽  
David Fraguas ◽  
Ángel del Rey-Mejías ◽  
Gisela Mezquida ◽  
Ana Sánchez-Torres ◽  
...  

Background: premorbid IQ (pIQ) and age of onset are predictors of clinical severity and long-term functioning after a first episode of psychosis. However, the additive influence of these variables on clinical, functional, and recovery rates outcomes is largely unknown. Methods: we characterized 255 individuals who have experienced a first episode of psychosis in four a priori defined subgroups based on pIQ (low pIQ < 85; average pIQ ≥ 85) and age of onset (early onset < 18 years; adult onset ≥ 18 years). We conducted clinical and functional assessments at baseline and at two-year follow-up. We calculated symptom remission and recovery rates using the Positive and Negative Symptoms of Schizophrenia Schedule (PANSS) and the Global Assessment Functioning (GAF or Children-GAF). We examined clinical and functional changes with pair-wise comparisons and two-way mixed ANOVA. We built hierarchical lineal and logistic regression models to estimate the predictive value of the independent variables over functioning or recovery rates. Results: early-onset patients had more severe positive symptoms and poorer functioning than adult-onset patients. At two-year follow-up, only early-onset with low pIQ and adult-onset with average pIQ subgroups differed consistently, with the former having more negative symptoms (d = 0.59), poorer functioning (d = 0.82), lower remission (61% vs. 81.1%), and clinical recovery (34.1% vs. 62.2%). Conclusions: early-onset individuals with low pIQ may present persistent negative symptoms, lower functioning, and less recovery likelihood at two-year follow-up. Intensive cognitive and functional programs for these individuals merit testing to improve long-term recovery rates in this subgroup.


2021 ◽  
Vol 28 ◽  
pp. 107327482098682
Author(s):  
Min Shi ◽  
Biao Zhou

Background: The incidence of pancreatic neuroendocrine tumors (PNETs) has increased significantly. The purpose of this study was to analyze the clinical characteristics and prognosis of patients under 50 years old. Methods: Patients with PNETs recorded in the Surveillance, Epidemiology, and End Results (SEER) database from 2004 to 2015 were analyzed. The clinical characteristics were analyzed by Chi-square test. The Kaplan-Meier method was used to estimate overall survival (OS). Multivariate Cox proportional risk regression analysis was used to determine independent prognostic factors. Results: 2,303 patients included, of which 547 (23.8%) patients were younger than 50 years old. The number of younger patients has increased steadily, while the proportion in total PNETs decreased recently. Compared with older group, the proportion of the Black, grade I/II, and surgery were higher in early-onset PNETs. Liver was the most frequent metastatic site. There was no significant difference in the incidence of different metastatic sites between younger and older PNETs patients, while younger patients had better OS (P < 0.05). Grade, N stage, M stage, and surgery were independent prognostic factors for OS in early-onset PNETs. Conclusions: Younger patients have unique clinicopathological characteristics compared with older patients in PNETs. Better OS was observed in younger patients which might due to the higher proportion of well-differentiated tumor and surgery than older patients.


2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Arjen L Sutterland ◽  
David A Mounir ◽  
Juul J Ribbens ◽  
Bouke Kuiper ◽  
Tom van Gool ◽  
...  

Abstract Schizophrenia is associated with an increased prevalence of IgG antibodies against Toxoplasma gondii (T. gondii seropositivity), whereby the infection seems to precede the disorder. However, it remains unclear whether a T. gondii infection affects clinical characteristics of schizophrenia. Therefore, a systematic review and meta-analysis was conducted following PRISMA guidelines examining the association between T. gondii seropositivity and severity of total, positive, or negative symptoms or age of onset in schizophrenia. PubMed, Embase, and PsycInfo were systematically searched up to June 23, 2019 (PROSPERO #CRD42018087766). Random-effects models were used for analysis. Furthermore, the influence of potential moderators was analyzed. Indications for publication bias were examined. From a total of 934 reports, 13 studies were included. No overall effect on severity of total, positive, or negative symptoms was found. However, in patients with a shorter duration of illness T. gondii seropositivity was associated with more severe positive symptoms (standardized mean difference [SMD] = 0.32; P &lt; .001). Similar but smaller effects were seen for total symptoms, while it was absent for negative symptoms. Additionally, a significantly higher age of onset was found in those with T. gondii seropositivity (1.8 y, P = .015), although this last finding was probably influenced by publication bias and study quality. Taken together, these findings indicate that T. gondii infection has a modest effect on the severity of positive and total symptoms in schizophrenia among those in the early stages of the disorder. This supports the hypothesis that T. gondii infection is causally related to schizophrenia, although more research remains necessary.


2003 ◽  
Vol 15 (4) ◽  
pp. 337-349 ◽  
Author(s):  
Silvia Mejía ◽  
Margarita Giraldo ◽  
David Pineda ◽  
Alfredo Ardila ◽  
Francisco Lopera

Objective: The purpose of this research was to identify environmental and personal factors that could be related to the variability in the age of onset of familial Alzheimer's disease (FAD) (36–62 years). Methods: A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset). Information on environmental and personal factors was collected by means of a questionnaire answered by the patients if their clinical condition allowed it, or by their relatives; such information was organized in a categorical way. Comparisons between the two groups for each categorical variable were done by means of the chi-square test. Noncollinear variables that showed statistical significance were included as independent variables in a logistic regression analysis to predict their association with early onset of the disease. Results: Only 5 of the 140 studied variables were different between the two groups in univariate analysis: education, surgical history, type of stressful event, depression, and affective losses. The logistic regression model was constituted by education, depression, and affective losses. High-level education had approximately 15 times more probability of association with an early onset of the disease; both the history of affective losses and depressive symptoms had 4 times more probability of a similar association. Conclusions: The association of high-level education and early onset of the disease could be related to an earlier detection of symptoms, in turn determined by greater intellectual and environmental demands. The occurrence of depression and affective losses has been considered a prodromic manifestation of the disease. Our findings are evidence of high clinical heterogeneity even in a genetically homogeneous group.


2016 ◽  
Vol 43 (4) ◽  
pp. 799-803 ◽  
Author(s):  
Lauren Fitzpatrick ◽  
K. Alaine Broadaway ◽  
Lori Ponder ◽  
Sheila T. Angeles-Han ◽  
Kirsten Jenkins ◽  
...  

Objective.Juvenile idiopathic arthritis (JIA) affects children of all races. Prior studies suggest that phenotypic features of JIA in African American (AA) children differ from those of non-Hispanic white (NHW) children. We evaluated the phenotypic differences at presentation between AA and NHW children enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry, and replicated the findings in a JIA cohort from a large center in the southeastern United States.Methods.Children with JIA enrolled in the multicenter CARRA Registry and from Emory University formed the study and replication cohorts. Phenotypic data on non-Hispanic AA children were compared with NHW children with JIA using the chi-square test, Fisher’s exact test, and the Wilcoxon signed-rank test.Results.In all, 4177 NHW and 292 AA JIA cases from the CARRA Registry and 212 NHW and 71 AA cases from Emory were analyzed. AA subjects more often had rheumatoid factor (RF)-positive polyarthritis in both the CARRA (13.4% vs 4.7%, p = 5.3 × 10−7) and the Emory (26.8% vs 6.1%, p = 1.1 × 10−5) cohorts. AA children had positive tests for RF and cyclic citrullinated peptide antibodies (CCP) more frequently, but oligoarticular or early onset antinuclear antibody (ANA)-positive JIA less frequently in both cohorts. AA children were older at onset in both cohorts and this difference persisted after excluding RF-positive polyarthritis in the CARRA Registry (median age 8.5 vs 5.0 yrs, p = 1.4 × 10−8).Conclusion.Compared with NHW children, AA children with JIA are more likely to have RF/CCP-positive polyarthritis, are older at disease onset, and less likely to have oligoarticular or ANA-positive, early-onset JIA, suggesting that the JIA phenotype is different in AA children.


2016 ◽  
Vol 6 (1) ◽  
pp. 60-65 ◽  
Author(s):  
Kim M. Holwerda ◽  
M. Susanne Weedon-Fekjær ◽  
Anne C. Staff ◽  
Ilja M. Nolte ◽  
Harry van Goor ◽  
...  

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