A case of rare allele T 126, 30,32 base pairs in a schizophrenic patient: A study case

2016 ◽  
Vol 33 (S1) ◽  
pp. S585-S586
Author(s):  
A.I. Sabau ◽  
P. Cristina ◽  
B. Valerica ◽  
P. Delia Marina

IntroductionSchizophrenia is a severe and complex disease clinically characterized by disturbed thought processes, delusions, hallucinations and reduced social skills. Gene coding for neregulin 1 (NRG 1) located in 8 p21chromosomeand single nucleotide polymorphism (SNPs) have been identified strongly supporting NRG1 gene as a susceptibility gene for schizophrenia.ObjectiveThe present preliminary study, determines the relationship between polymorphism nucleotide sites (SNPs2) of NRG1 gene and schizophrenia.AimsIdentifying rare allele T of neregulin 1 genein schizophrenic patients.MethodWe analyzed the polymorphism (SNPs2) of NRG1 gene in 20 patients recruited from Psychiatry Department of Emergency Clinical Hospital of Arad diagnosed with schizophrenia according to DSM-5-TM and ICD-10 criteria and 10 healthy controls. From all subjects, we obtained 2 mL of peripheral blood samples. Genomic DNA was extracted using the phenol-chloroform method. Genotyping was performed byPCR-based RFLP analysis for all subjects. The obtained PCR product mixture was completely digested with restriction enzyme, separated on SNP1 and SNP2 agarose gel. We present the case of a 31 years old, male, schizophrenic patient with the SNPs2 polymorphism and rare allele T 126.ResultsIn both groups, common allele G 127 and 60 base pairs was identified but only 2 schizophrenic patients presented rare allele T 126 and 30,32 base pairs.ConclusionsThe polymorphism SNPs2 of NRG1 gene with rare allele T 126 and 30,32 base pairs, may play a role in predisposing an individual to schizophrenia. Further and extended replicating studies with multiple sequencing of NRG1 gene are necessary.Disclosure of interestThe authors have not supplied their declaration of competing interest.

2016 ◽  
Vol 33 (S1) ◽  
pp. S612-S612
Author(s):  
F.X. Fluvia ◽  
R. Pastor

It is well known that when we have a schizophrenic patient who do not respond to two batches of neuroleptics at full dosage for more than six month, it may be wise to try with clozpine which is believed to be one of the best neuroleptics we have but with two main handicaps: it can produce leucopenia which can be fatal and epileptic seizures as well. We do think that in many cases, clozapine has been used too soon in the treatment of the schizophrenic patient, before we can really talk of a resistant patient. To prove that we have changed the clozapine treatment of four chronically ill schizophrenic patients admitted to a home for the chronically mentally ill. Two patients were changed from clozapine 400 mg/day to paliperidone 15 mg/day along two months time. They both improved in mental clarity and ability of thinking. Another patient were changed from 600 mg/day to 27 mg/day of paliperidone. That patient worsened a little bit mainly with hostility and social avoidance but it was mandatory to change neuroleptic because he had had two seizures and had low levels of platelets and therefore he was at risk of developing leukopenia. The fourth one was taking 300 mg of clozapine and was changed to 12 mg of paliperidone. We got no change in the clinical outcome.DiscussionWe discuss the different explanations for the results we got.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 41 (S1) ◽  
pp. s831-s831
Author(s):  
F. Romosan ◽  
L.M. Ienciu ◽  
A.M. Romosan ◽  
R.S. Romosan

IntroductionSchizoaffective disorder (SAD) and schizophrenia (SZ) are important causes of disability and morbidity. Finding clinical features that can help in their early differentiation may lead to a better understanding of these two nosologic entities.ObjectivesThe purpose of this study was to find clinical differences between SAD and SZ.MethodsWe selected for this study 83 inpatients from the Timisoara Psychiatric Clinic, diagnosed with either SAD (n = 35) or SZ (n = 48), according to ICD-10 criteria. The research was conducted between 2014 and 2016. Socio-demographic (age, sex, education, marital status) and clinical data were analysed. The Brief Psychiatric Rating Scale (BPRS) was used to assess symptom severity.ResultsDelusions of grandiosity were found significantly more frequent in SAD patients (P = 0.001). By contrast, bizzare delusions (P = 0.025), derealization phenomena (P = 0.03) and negative symptoms (P = 0.003) appeared more frequent in schizophrenic patients. We found no significant differences between the two samples regarding onset age, number of episodes, duration of episode, duration of remission and suicidal thoughts/attempts. Although the SZ sample had higher BPRS total scores than SAD patients, the differences were not statistically significant.ConclusionsEven though SAD and SZ are very similar in respect to their clinical presentation, this study also revealed certain differences that may enhance specific knowledge regarding these two disorders.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2016 ◽  
Vol 33 (S1) ◽  
pp. S576-S577
Author(s):  
M.A. Duarte ◽  
B. Lourenço ◽  
A. Ponte ◽  
A. Caixeiro

IntroductionCentro Hospitalar Psiquiátrico de Lisboa (C.H.P.L.), in Lisbon, Portugal, is the biggest psychiatric hospital in Portugal and one of the oldest still working. Along with acute inpatient clinics it has long duration inpatient units with 226 patients.Objectives/aimsCharacterize and improve the therapeutic approaches in patients committed to the long duration inpatient unit with long hospitalization times and the diagnose of schizophrenia.MethodsDuring the month of September 2015 all patients, committed before 2000 who fulfilled the diagnosis criteria ICD 10, F20.X (Schizophrenia) were characterized regarding age, gender, time of hospitalization and were evaluated using the Positive and Negative Symptom Scale (PANSS).ResultsFrom the original sample (n = 226), 31 patients were included in the study. The mean age was 64.4 years (min 50–max 91) and the majority were male (67.7%; n = 21). The mean years of hospitalization were 28.7 years (min 15–max 60). The average total PANSS score was 99.8 (positive symptoms: 25.4; negative symptoms: 29.9; general symptoms: 44.4).ConclusionsAlthough in last decades many psychiatric hospitals were closed and community approaches to treatment of the mentally ill were the direction preconized by several international organizations, some patients still “live” in the hospital. Mostly, as we found in our study, have a severe, refractory disease, sometimes with behaviour changes that unable them to be discharged. With the continuous evolution of psychopharmacological drug treatment, this paradigm may change. Meanwhile other therapeutic approaches should be used to improve the disease symptoms.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 41 (S1) ◽  
pp. S278-S278 ◽  
Author(s):  
G. Rupchev ◽  
A. Alekseev ◽  
M. Morozova ◽  
V. Kaleda ◽  
A. Tkhostov ◽  
...  

IntroductionImpairment of executive function is the fundamental feature of the cognitive dysfunction in schizophrenia has to be measured throughout the illness regularly. Computerized technologies for assessment of cognitive dysfunction are widely used. However, their applicability in hospitalized schizophrenic patients setting should be specially examined.ObjectiveExecutive function in schizophrenia.AimsTo test the applicability of “CANTAB” neurocognitive battery for measurement of executive function in young hospitalized schizophrenic patients in Russian sample.MethodsFifteen inpatients diagnosed with schizophrenia according to ICD-10 (F 20.хх), 13 males and 2 females, aged 23.5(SD 3.2), disease duration is 5(SD 1.6) years and 16 healthy individuals, 7 males and 9 females, aged 21.3(SD 0.7). Spatial Working Memory (SWM) (Mnemonic Executive function), Stockings of Cambridge (OTS) (Planning Executive function), Intra/Extra-Dimensional Shift (IED) (Cognitive flexibility) were administered.ResultsThe majority of patients and controls easily understood the test instructions. Both groups did not have any difficulties with the touchpad. The “CANTAB” demonstrated sensitivity to the impairments of executive function. As a group, patients with schizophrenia performed significantly worse than controls on almost all tests: SWM–Between errors (P = 0.028), Total errors (P = 0.019), Strategy (P = 0.03), Mean time to last response (P = 0.001); OTS–Mean choices to correct (P = 0.044), Problems solved on first choice (P = 0.009), Probability of error given correct (P = 0.021); IED–Total errors (P = 0.015), Total trials (P = 0.002).ConclusionThe “CANTAB” is an applicable instrument for assessment of the executive function in young hospitalized schizophrenic patients. It can be used both for experimental and clinical needs.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 41 (S1) ◽  
pp. s833-s833
Author(s):  
G. Rupchev ◽  
M. Morozova

IntroductionToday the scales for measurement of functional status and life satisfaction (GAF, PSP, EQ-5D, SQLS) gain more importance in assessing schizophrenic patients. Autonomy of living is to the great extent the basis of patient well-being. Each of these scales has the criteria, testing ability for independent life, but none of it tests autonomy as a separate object.ObjectiveDevelopment of a new scale.AimsDescription and validation of a scale for evaluation of autonomy of living in schizophrenic patients.MethodsForty patients diagnosed with schizophrenia according to ICD−10 (F 20.хх), 13 males and 27 females, aged 49.8 ± 9, disease duration is 22 ± 8.6 years. New scale and PANSS, CGI-S, NSA, BACS, GAF, PSP was administered.ResultsThe scale comprises five points (activity, intentional behavior, range of social interaction, specificity of interaction with the doctor (medical conventionality) and autonomy), and total score. The internal consistency of the scale was high – cronbach's alpha 0.83. The construct validity with GAF and PSP was moderate (R varied from 0.36 to 0.55). The total score of the new scale correlated with the PANSS negative subscale score (R = −0.51), with CGI-S score (R = −0.57), and with the BACS total score (R = −0.57).ConclusionThe scale of autonomy corresponds to the major psycho-diagnostic requirements: internal consistency, construct and discriminative validities. It can be considered a new instrument for assessing the integrative target of treatment and rehabilitation of patients with schizophrenia.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2016 ◽  
Vol 33 (S1) ◽  
pp. s229-s229
Author(s):  
A. Soler Iborte ◽  
S. Galiano Rus ◽  
J.A. Ruíz Sánchez

IntroductionThe total costs of schizophrenia increased to 2576 million Euros in 2013 in Spain, or 2.7% of the annual cost of health services. The hospitalizations, along with other intermediate resources, such as Day Hospital, etc., significantly contribute to the increase of economic burden. In Spain, the average hospital stay of schizophrenic patients is 18.24 days, totalling to an average cost of 6,753 Euros/patient (370.23 Euros/patient/day).Material and methodsThe sample selected included patients from both sexes, aged between 18 and 65 years old, with diagnostic criteria of schizophrenia (according to DSM-IV and ICD-10), admitted in the Mental Health Hospital Unit (MHHU), Úbeda between 2012 and 2013, with registered visits of at least 2 outpatient visits or 1 hospitalization related to the schizophrenia diagnosis (n = 48).ResultsAfter the start of treatment with the injectable antipsychotic drug of prolonged duration, the number of patients that required hospitalization for any psychiatric motive went from 24 patients (49.7%) to 11 patients (22.4%; P < 0.001). The patients who started treatment with PAP during hospitalization had an average stay of 15.7 days, as compared to 18.24 days of average hospital stay due to schizophrenia in Spain. The direct costs of hospitalization stays due to psychiatric reasons decreased from 162,071.88 Euros to 74,282.95 Euros (P < 0.001).ConclusionsThis observational study shows us that the treatment with PAP reduced the average length of the hospital stay, and resulted in a decreased percentage of re-admissions as compared to oral treatments for schizophrenia. These data led to savings of more than 50% of the direct costs of hospitalization.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2016 ◽  
Vol 33 (S1) ◽  
pp. s248-s248
Author(s):  
A. Fernandez-Quintana ◽  
M.D.C. García-Mahía

IntroductionPrevious studies highlight the difficulty of correctly diagnosing depressive symptoms in schizophrenic patients, as well as the impact on clinical progression among patients who present with both syndromes, worsening treatment adherence and overall prognosis.AimsTo determine the prevalence of depressive symptoms in patients diagnosed with schizophrenia. To analyze the relationship of depressive symptoms with other demographic and clinical variables.Material and methodsEighty-four patients diagnosed with schizophrenia according to ICD-10 criteria and treated in an Outpatient Mental Health Clinic were recruited for this study. Symptom severity was assessed using The Positive and Negative Syndrome Scale (PANSS; Kay et al., 1987); classifying patients as positive, negative or mixed schizophrenia subtypes. Data from clinical and sociodemographic variables was obtained from clinical records.ResultsThe mean age was 43.2 years (SD: 10.2). Depression is objectively detected in 10.3% of the sample, and presented as subjective depression in 29.5%. The prevalence of depressive symptoms is higher among women, unmarried patients, lower social classes and patients who met criteria for predominantly positive Schizophrenia subtype. Higher prevalence of depressive symptoms was found in patients with a shorter course of disease.ConclusionsDepressive symptoms present with a high prevalence among patients diagnosed with schizophrenia, especially during the early years of the disease. Given the severe impact of depression on both the evolution and prognosis of patients with severe mental illness, screening and early treatment must be carried out.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2016 ◽  
Vol 33 (S1) ◽  
pp. S123-S123
Author(s):  
L. Damian ◽  
I. Miclutia

IntroductionIn spite of more studies dedicated to the topic of sexual disorders among schizophrenic patients or to the sexual effects of antipsychotics and antidepressants, few studies entangle broadly the issue of sexual attitudes and behaviors of bipolar patients, due partly to the heterogeneity of the disorder and the variety of episodes, and treatments.ObjectivesTo establish if special sexual patterns are specific to depressive or manic episodes and if the sexual disorders are related to the severity of the mood episodes.AimsTo compare depressive, manic, and matched controls regarding their sexuality.MethodsThe current study is an observational cross sectional study, carried out on 173 women, among them 112 bipolar, diagnosed according to ICD-10 criteria (81 depressive, and 31 manic), and 61 controls. All subjects fulfilled the Sexual Disorders Interview (SDI), Female Sexual Function Index (FSFI) and to bipolar patients BDI, YMRS have been administered.ResultsFemale bipolar patients were significant less sexual active than controls, depressive women being less interested in sexuality than manic patients; there were not significant differences between the two patients’ samples regarding the frequency of sexual intercourse, degree of psychopathology. Sexual problems on FSFI were detected in 75% of bipolar patients, both bipolar groups emphasizing difficulties in arousal, lubrication and sexual satisfaction.ConclusionsThe issue of sexual problems in bipolar female patients is delicate to investigate and often neglected, being difficult to ascertain to the mood disorder itself or to different treatments the patients have been exposed to, or to stigma.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 41 (S1) ◽  
pp. s810-s810
Author(s):  
E. Dmitrieva ◽  
E. Kornetova

BackgroundMethods of assessment of medicated compliance are based upon preceding experience of taking therapy and cannot be applied at the first admission.ObjectiveTo investigate premorbid characteristics in schizophrenic patients and reveal the factors indicating noncompliance.MethodsWe used medical record background, interview, Medical Compliance Prediction Scale for Psychiatry for evaluation of the level of compliance, program STATISTICA10 for identification of the average level of compliance in the subgroups of each factor by Kruskal–Wallis test and revealing those subgroups for each factor where the average level of compliance was statistically significantly lower (P < 0.05).ResultsWe examined 120 patients (status corresponded to the ICD-10 diagnostic criteria for schizophrenia, age–18 and older, duration of the disease–5 years and more, patients taking typical or atypical antipsychotics or combined therapy) according to factors of premorbid period such as gender, family history of mental disorders, personality traits, nurture in the family, education level, marital status; substance use, age at the onset of disease.ConclusionsLevel of compliance was lower in subgroups of men, patients having several relatives with mental disorders, patients having personality with predominance of irritable and impulsive traits, patients with neglect in parental families, patients with education level lower than high school and with education level higher than bachelor; patients not working or studying to onset of disease; patients who were divorced or widowed; patients living alone; patients using psychoactive substances; patients aged 21 years and older to the onset of disease.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol 9 (2) ◽  
pp. 315
Author(s):  
Carlos A. Zárate-Chaves ◽  
Daniela Osorio-Rodríguez ◽  
Rubén E. Mora ◽  
Álvaro L. Pérez-Quintero ◽  
Alexis Dereeper ◽  
...  

Transcription activator-like effectors (TALEs) play a significant role for pathogenesis in several xanthomonad pathosystems. Xanthomonas phaseoli pv. manihotis (Xpm), the causal agent of Cassava Bacterial Blight (CBB), uses TALEs to manipulate host metabolism. Information about Xpm TALEs and their target genes in cassava is scarce, but has been growing in the last few years. We aimed to characterize the TALE diversity in Colombian strains of Xpm and to screen for TALE-targeted gene candidates. We selected eighteen Xpm strains based on neutral genetic diversity at a country scale to depict the TALE diversity among isolates from cassava productive regions. RFLP analysis showed that Xpm strains carry TALomes with a bimodal size distribution, and affinity-based clustering of the sequenced TALEs condensed this variability mainly into five clusters. We report on the identification of 13 novel variants of TALEs in Xpm, as well as a functional variant with 22 repeats that activates the susceptibility gene MeSWEET10a, a previously reported target of TAL20Xam668. Transcriptomics and EBE prediction analyses resulted in the selection of several TALE-targeted candidate genes and two potential cases of functional convergence. This study provides new bases for assessing novel potential TALE targets in the Xpm–cassava interaction, which could be important factors that define the fate of the infection.


Sign in / Sign up

Export Citation Format

Share Document