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Trypanosoma cruzi has three biochemically and morphologically distinct developmental stages that are programmed to rapidly respond to environmental changes the parasite faces during its life cycle. Unlike other eukaryotes, Trypanosomatid genomes contain protein coding genes that are transcribed into polycistronic pre-mRNAs and have their expression controlled by post-transcriptional mechanisms. Transcriptome analyses comparing three stages of the T. cruzi life cycle revealed changes in gene expression that reflect the parasite adaptation to distinct environments. Several genes encoding RNA binding proteins (RBPs), known to act as key post-transcriptional regulatory factors, were also differentially expressed. We characterized one T. cruzi RBP, named TcZH3H12, which contains a zinc finger domain and is up-regulated in epimastigotes compared to trypomastigotes and amastigotes. TcZC3H12 knockout (KO) epimastigotes showed decreased growth rates and increased capacity to differentiate into metacyclic trypomastigotes. Transcriptome analyses comparing wild type and TcZC3H12 KOs revealed a TcZC3H12-dependent expression of epimastigote-specific genes such as genes encoding amino acid transporters and proteins associated with differentiation (PADs). RNA immunoprecipitation assays showed that transcripts from the PAD family interact with TcZC3H12. Taken together, these findings suggest that TcZC3H12 positively regulates the expression of genes involved in epimastigote proliferation and also acts as a negative regulator of metacyclogenesis.
The objectives of the current study were to detect putative genomic loci and to identify candidate genes associated with milk production traits in Egyptian buffalo. A total number of 161 479 daily milk yield (DMY) records and 60 318 monthly measures for fat and protein percentages (FP and PP, respectively), along with fat and protein yields (FY and PY, respectively) from 1670 animals were used. Genotyping was performed using Axiom® Buffalo Genotyping 90 K array. Genome-wide association study (GWAS) for each trait was performed using PLINK. After Bonferroni correction, 47 SNPs were associated with one or more milk production traits. These SNPs were distributed over 36 quantitative trait loci (QTL) and located on 20 buffalo chromosomes (BBU). For the 47 SNPs, one was overlapped for three traits (DMY, FY, and PY), six were associated with two traits (one for PP and PY and five for FY and PY) while the rest were associated with only one trait. Out of 36 identified QTL, eleven were overlapped with previously reported loci in buffalo and/or cattle populations. Some of these SNPs are placed within or close to potential candidate genes, for example: TPD52, ZBTB10, RALYL and SNX16 on BBU15, ADGRD1 on BBU17, ESRRG on BBU5 and GRIP1 on BBU4. This is the first reported study between genome-wide markers and milk components in Egyptian buffalo. Our findings provide useful information to explore the genetic mechanisms and relevant genes contributing to the variation in milk production traits. Further confirmation studies with larger population size are necessary to validate the findings and detect the causal genetic variants.
Paediatric cardiomyopathy is a progressive and often lethal disorder and the most common cause of heart failure in children. Despite their severe outcomes, their genetic etiology is still poorly characterised. The current study aimed at uncovering the genetic background of idiopathic primary hypertrophic cardiomyopathy in a cohort of Egyptian children using targeted next-generation sequencing. The study included 24 patients (15 males and 9 females) presented to the cardiomyopathy clinic of Cairo University Children’s Hospital with a median age of 2.75 (0.5–14) years. Consanguinity was positive in 62.5% of patients. A family history of hypertrophic cardiomyopathy was present in 20.8% of patients. Ten rare variants were detected in eight patients; two pathogenic variants (8.3%) in MBPC3 and MYH7, and eight variants of uncertain significance in MYBPC3, TTN, VCL, MYL2, CSRP3, and RBM20.
Here, we report on the first national study in Egypt that analysed sarcomeric and non-sarcomeric variants in a cohort of idiopathic paediatric hypertrophic cardiomyopathy patients using next-generation sequencing. The current pilot study suggests that paediatric hypertrophic cardiomyopathy in Egypt might have a particular genetic background, especially with the high burden of consanguinity. Including the genetic testing in the routine diagnostic service is important for a better understanding of the pathophysiology of the disease, proper patient management, and at-risk detection. Genome-wide tests (whole exome/genome sequencing) might be better than the targeted sequencing approach to test primary hypertrophic cardiomyopathy patients in addition to its ability for the identification of novel genetic causes.
Obese subjects have shown a preference for dietary lipids. A recent collection of evidence has proposed that a variant in the CD36 gene plays a significant role in this pathway. We assessed the association between the orosensory detection of a long-chain fatty acid, i.e. oleic acid (OA), and genetic polymorphism of the lipid taste sensor CD36 in obese and normal-weight subjects. Adult participants were recruited in the fasting condition. They were invited to fat taste perception sessions, using emulsions containing OA and according to the three-alternative forced-choice (3-AFC) method. Genomic DNA was used to determine the polymorphism (SNP rs 1761667) of the CD36 gene. Obese (n 50; BMI 34⋅97 (sd 4⋅02) kg/m2) exhibited a significantly higher oral detection threshold for OA (3⋅056 (sd 3⋅53) mmol/l) than did the normal-weight (n 50; BMI 22⋅16 (sd 1⋅81) kg/m2) participants (1⋅20 (sd 3⋅23) mmol/l; P = 0⋅007). There was a positive correlation between OA detection thresholds and BMI in all subjects; evenly with body fat percentage (BF%). AA genotype was more frequent in the obese group than normal-weight group. OA detection thresholds were much higher for AA and AG genotypes in obese subjects compared with normal-weight participants. Higher oral detection thresholds for fatty acid taste are related to BMI, BF% and not always to CD36 genotype.
Nitric oxide synthase (NOS) activity, an enzyme potentially involved in the major depressive episodes (MDE), could be indirectly measured by the L-Citrulline/L-Arginine ratio (L-Cit/L-Arg). The aim of this study was: (1) to compare the NOS activity of patients with a MDE to that of healthy controls (HC); (2) to assess its change after antidepressant treatment.
A total of 460 patients with a current MDE in a context of major depressive disorder (MDD) were compared to 895 HC for NOS activity (L-Cit/L-Arg plasma ratio). L-Arg and L-Cit plasma levels were measured using a MS-based liquid chromatography method. Depressed patients were assessed at baseline, and after 3 and 6 months of antidepressant treatment for depression severity and clinical response.
Depressed patients had a lower NOS activity than HC at baseline [0.31 ± 0.09 v. 0.38 ± 0.12; 95% confidence interval (CI) −0.084 to −0.062, p < 0.0001]. Lower NOS activity at baseline predicted a higher response rate [odds ratio (OR) = 29.20; 95% CI 1.58–536.37; p = 0.023]. NOS activity in depressed patients increased significantly up to 0.34 ± 0.08 after antidepressant treatment (Est = 0.0034; 95% CI 0.0002–0.0067; p = 0.03).
Depressed patients have a decreased NOS activity that improves after antidepressant treatment and predicts drug response. NOS activity may be a promising biomarker for MDE in a context of MDD.
Presented is an approach to support margin allocation and management via a graph-theoretical network of assumptions. In contrast to the document-centric approach, the network captures assumptions dependencies, and enables an algorithmic process supporting margin allocation and management. Ultimately, this methodology is intended to assist decision-makers in managing assumptions and examining their impact on an architecture. Explicitly linking margins to assumptions allows to support mitigating their risk of invalidity. The approach is demonstrated with a conceptual aircraft design example.
Ageing leads to a progressive loss of muscle function (MF) and quality (MQ: muscle strength (MS)/lean muscle mass (LM)). Power training and protein (PROT) supplementation have been proposed as efficient interventions to improve MF and MQ. Discrepancies between results appear to be mainly related to the type and/or dose of proteins used. The present study aimed at determining whether or not mixed power training (MPT) combined with fast-digested PROT (F-PROT) leads to greater improvements in MF and MQ in elderly men than MPT combined with slow-digested PROT (S-PROT) or MPT alone. Sixty elderly men (age 69 (sd 7) years; BMI 18–30 kg/m2) were randomised into three groups: (1) placebo + MPT (PLA; n 19); (2) F-PROT + MPT (n 21) and (3) S-PROT + MPT (n 20) completed the intervention. LM, handgrip and knee extensor MS and MQ, functional capacity, serum metabolic markers, skeletal muscle characteristics, dietary intake and total energy expenditure were measured. The interventions consisted in 12 weeks of MPT (3 times/week; 1 h/session) combined with a supplement (30 g:10 g per meal) of F-PROT (whey) or S-PROT (casein) or a placebo. No difference was observed among groups for age, BMI, number of steps and dietary intake pre- and post-intervention. All groups improved significantly their LM, lower limb MS/MQ, functional capacity, muscle characteristics and serum parameters following the MPT. Importantly, no difference between groups was observed following the MPT. Altogether, adding 30 g PROT/d to MPT, regardless of the type, does not provide additional benefits to MPT alone in older men ingesting an adequate (i.e. above RDA) amount of protein per d.
The supplementation of ruminant diets with exogenous cellulolytic enzymes can improve their digestibility and feeding value. The objective of this study was to determine the effect of supplementing roughage (rice straw) and concentrate with inoculants containing four fungal strains (Pleurotus ostreatus, Phanerochaete chrysosporium, Trichoderma reesei and Trichoderma viride) and four bacterial strains (Paenibacillus polymyxa, Bacillus megaterium, Bacillus circulans and Bacillus subtilis), given separately or as a mixture, as a source of exogenous cellulolytic enzymes, on basic rumen parameters in vitro, including digestibility and methane production. A batch culture trial was used to select the best supplements, and a long-term rumen simulation technique (RUSITEC) was used to evaluate the effects of P. chrysosporium, B. subtilis, and a 1 : 1 mixture of these two on dietary component digestibility and fermentation parameters. In the batch culture evaluation, there were significant increases in the organic matter (OM) digestibility, the total gas production expressed as ml/g of dry matter, the OM, the neutral detergent fibre (NDF) and the acid detergent fibre (ADF) of the supplemented rations, as compared to the control, excluding the rations supplemented with T. viride and B. circulans. In the RUSITEC, the ration supplemented with mixed inoculants showed significantly higher digestibility of crude protein, ether extract, NDF and ADF than did the ration supplemented with the P. chrysosporium and B. subtilis inoculants. It can be concluded that the simultaneous use of fungal and bacterial exogenous cellulases on rice straw roughage improves its digestibility, without negative effects on other rumen parameters.
La sérotonine est une monoamine apparentée à l’adrénaline, la noradrénaline et la dopamine. Elle joue un rôle essentiel pour de nombreux organes du corps humain, notamment à l’étage cérébral où elle est impliquée dans d’importantes fonctions vitales de régulation de l’homéostasie de l’organisme. Son transporteur est le siège de thérapeutiques devenues incontournables en psychiatrie, et il existe une variation génétique de son expression qui serait impliquée dans de nombreuses pathologies psychiatriques.
À partir d’une revue récente de la littérature, nous proposons de se focaliser sur l’impact des variations génétiques du récepteur à la sérotonine (5-HTTLPR) dans les troubles anxieux et dépressifs et en particulier sur les mécanismes de régulation émotionnelle. Nous nous intéressons ainsi aux données croisées entre génétique et aspects neuropsychologiques de la dépression et des troubles anxieux. Ce travail permet d’offrir une synthèse des données récentes de la littérature et de réfléchir à de nouvelles voies de recherche sur ces pathologies fréquentes en psychiatrie.
The validation of mini international neuropsychiatric interview (MINI) into Moroccan Colloquial Arabic language demonstrated good psychometric properties. The concordance between translated MINI’s and expert diagnoses was good with kappa values greater than 0.80. The reliability inter-rater and test–retest were excellent with kappa values above 0.80 and 0.90, respectively.
Affective dysregulation is a core feature of bipolar disorder (BD) and a significant predictor of clinical and functional outcome. Affective dysregulation can arise from abnormalities in multiple processes. This study addresses the knowledge gap regarding the precise nature of the processes that may be dysregulated in BD and their relationship to the clinical expression of the disorder.
Patients with BD (n = 45) who were either in remission or in a depressive or manic state and healthy individuals (n = 101) were compared in terms of the intensity, duration and physiological response (measured using inter-beat intervals and skin conductance) to affective and neutral pictures during passive viewing and during experiential suppression.
Compared to healthy individuals, patients with BD evidenced increased affective reactivity to neutral pictures and reduced maintenance of subjective affective responses to all pictures. This pattern was present irrespective of clinical state but was more pronounced in symptomatic patients, regardless of polarity. Patients, regardless of symptomatic status, were comparable to healthy individuals in terms of physiological arousal and voluntary control of affective responses.
Our study demonstrates that increased affective reactivity to neutral stimuli and decreased maintenance of affective responses are key dimensions of affective dysregulation in BD.
Each year around 1/10,000 of general population sustain a traumatic brain injury (7,000 individual in UK) and as a result have an increased risk of epilepsy in the long term.
To the best of our knowledge there is not much literature available on incidence and prevalence of epilepsy following ABI in the group of patients who develop psychiatric presentation as a result.
To ascertain the prevalence of epilepsy in a group of in-patients with neuropsychiatric presentation admitted in a tertiary Brain Injury Neuropsychiatry Centre.
A cross sectional survey of healthcare records of 125 in-patients was carried out to ascertain the diagnosis of epilepsy. The current diagnosis of epilepsy and frequency of these patients’ seizures as well as history of early seizures following ABI were noted.
Out of 125 patients studied, 40 (32%) were diagnosed with epilepsy at some point following their brain injury or at the time of survey. Out of these, 35 patients had active epilepsy at the time of the survey with definite seizures witnessed and documented in the in-patients notes. Fifteen patients had had seizures in early phase following their ABI and no seizures reported since.
Patients who present with either cognitive impairment, challenging behaviour or and psychiatric illness are at a higher risk of epilepsy compared to those reported in general Brain Injury Neuro-rehabilitation setting. This could be explained by severity of ABI or the areas of brain damaged which may be involved in neuro-psychiatric presentation also causing epilepsy.
This study aimed to determine prevalence and correlates of suicidal attempts in an adult primary care population in Sousse (Tunisia).
Sampling followed a stratified multistage probability cluster design from witch a representative sample of adult primary care population of Sousse was obtained. The sample was composed of 1249 subjects aged 18 years or more. Subjects were interviewed by trained clinicians using the Tunisian version of Composite International Diagnostic Interview 2.1.
General and clinical characteristics of subjects who had reported previous suicidal attempts were compared with those of the remainder using t test and Chi-2 test.
Mean age in our sample was 43.4 ± 17.62 years, with female gender (70.9%) and urban residency (67.8%) predominance. 62.3% of participants were married, 27.3% celibates and 10.4% divorced or widowed. 68.4% of them had low educational level and 70% were out of work during the last 12 months. Suicidal attempts were found in 2.9% of participants. They were correlated to less than 40 years age (p=0.036) and to the diagnosis of major depressive episodes (p< 10-3), recurrent major depressive disorder (p=0.005) and dysthymic disorder (p< 10-3). Among major depressive episodes, only severe ones were associated to higher prevalence of suicidal attempts (p< 10-3).
Prevalence of suicidal attempts in Sousse primary care population was 2.9%. It was correlated to low age and to depressive disorders.
Cluster B personality disorders are the most common in psychiatric patients and are correlated with specific characteristics. However, dissimilarities may be noticed between different personality types.
This study aimed to compare sociodemographic and clinical features of patients with varied types of this cluster.
It's a comparative study held in the psychiatric outpatient unit. All five years first time attendances to the unit were retrospectively examined in order to identify those with diagnosis of cluster B personality disorder according to DSM-IV criteria (N=81). Statistical comparisons were performed for sociodemographic features, medical history and axis I comorbidity.
Antisocial personality was the most common (n=32), followed by histrionic (n=28), then borderline personality (n=19).
Patients with antisocial personality were mainly of male gender (p<10-4) and had more antecedents of incarcerations (p<10-4) than the remainder.
Patients with borderline personality had reported less alcohol (p=0.035) and prescribed drugs (p=0.01) use than patients with antisocial personality and more alcohol use (p=0.013) than patients with histrionic personality. History of alcohol (p<10-4), cannabis (0.002) and prescribed drugs (p<10-4) use was more frequent in antisocial compared to histrionic personality. Also, patients with histrionic personality had more conversion disorder than those with antisocial personality (p=0.001).
Cluster B personality disorders seem to share similar family and personal past medical history, but are very different in matter of substance use and comorbid conversion disorder. These findings support the idea that adapted psychiatric care is needed for each type of cluster B personality disorder.
Patients with ABI present with a relatively higher risk of developing psychotic illness. A co-morbid psychotic illness may pose multiple challenges in rehabilitation of these patients. The medical literature provides limited information on the nature, presentation, diagnosis, course, and prognosis of psychotic disorders after ABI.
Clinically generated data was used to study the prevalence and nature of co-morbid psychotic illness and cause of ABI amongst inpatients requiring multidisciplinary neurobehavioral rehabilitation. The data were collected in an anonymized fashion and analyzed using SPSS version 16.
We examined data from 64 patients (51 Male, 13 Female). The age range was 21-61 years (Mean 39, S.D. 10.6). 40% patients had a history of mental illness or self harm prior to ABI. 16% had sustained their ABI as a result of suicide attempts. 12% had history of schizophrenia or bipolar mood disorder prior to ABI.
A third (33%) had a Post-ABI diagnosis of a psychotic illness. The most common diagnosis was organic psychosis (21%) followed by schizophrenia (9%) and bipolar mood disorder (3%). The factors that influenced diagnostic differentiation in organic or non-organic psychotic illness included consideration of past psychiatric history, family history, psychopathology, and course of the disorder. The overall patient group showed a significant difference in post admission and latest HONOS-Secure (P< 0.01) and HONOS ABI (P< 0.01) ratings, showing improvement in outcomes during rehabilitation programme. This difference persisted when sub-groups of psychotic and non-psychotic patients were analysed separately.
Sexual dysfunction is reported by up to 80% of schizophrenic patients and seems to be mainly associated with antipsychotic medications.
This study aimed to compare sexual functioning and sexual dysfunction, as assessed by the Arizona Sexual Experience Scale, in drug naïve or drug free schizophrenic patients and in healthy controls.
A consecutive sample of 109 patients meeting DSM-IV criteria of schizophrenia was constituted in psychiatry department of Sousse Farhat Hached hospital (Tunisia), during a 24 months period. They were drug naïve or drug free for at least three months. 109 age and gender matched, consenting controls were recruited among blood donors attending Farhat Hached hospital during the same period. They were free from psychotic disorders as screened by MINI-Plus. Sexual functioning was assessed using the Arizona Sexual Experience Scale (ASEX) in sexually active patients (N = 84) and controls (N = 94).
There were no statistical differences in sexual dysfunction rates between schizophrenic patients (20.6%) and healthy controls (13.1%), according to usual threshold values. Also, global ASEX score was similar in schizophrenic patients (12.93 ± 4.48) as in healthy controls (12.61 ± 2.60). Besides, different ASEX item scores including sex drive, arousal, vaginal lubrification/penile erection and orgasm have not shown any differences between patients and controls. Only sexual satisfaction score was higher in schizophrenic patients than in healthy controls (2.73 ± 0.95 vs. 2.43 ± 0.77; p = 0.02).
Our results showed a low rate of sexual dysfunction in drug free schizophrenic patients without statistical differences with healthy controls. Only sexual satisfaction was lower in schizophrenic patients.
The prevalence of Human Herpesvirus 8 (HHV8) has never been investigated in schizophrenic patients.
This study aimed to assess the prevalence of HHV8 serum antibodies in schizophrenic patients and in healthy controls.
During a 24 months period, we consecutively enrolled 108 patients meeting DSM-IV criteria of schizophrenia, in psychiatry department of Sousse Farhat Hached hospital (Tunisia). We also enrolled 108 controls among consenting blood donors. They were age and sex matched and free from any psychotic disorder as screened by MINI-Plus.
Psychopathology and severity were measured using PANSS, BPRS, SANS, SAPS and CGI. Sera samples were obtained from patients and controls and then analyzed for the presence of anti-HHV8 antibodies (anti-HHV8) using a sensitive indirect immunofluorescence assay to latent and lytic HHV8 antigens.
A significantly higher prevalence of anti-HHV8 in schizophrenic patients than in healthy controls was found (28.7% vs. 14.8%, p = 0.01). Marital status, educational level, professional activity, poverty, promiscuity, number of children, sexual behavior or presence of risk factors of blood transmission were not associated with HHV8 prevalence (p > 0.05). However, among schizophrenic patients, HHV8 prevalence was statically associated with positive symptoms (SAPS score) (p = 0.01) and the severity of illness (CGI score) (p = 0.02).
To our knowledge, this would be the first report of high HHV8 prevalence in schizophrenic patients, which support the role of this virus in the pathogenesis of schizophrenia. To go on further with this hypothesis, more investigations of HHV8 in schizophrenia are needed.
Le trouble bipolaire est une maladie à déterminisme complexe associant des facteurs de vulnérabilité génétique et des facteurs environnementaux. Le traumatisme crânien constitue un de ces facteurs . En effet, il augmente d’une fois et demie à deux fois le risque de développer la maladie . Pourtant, son rôle dans l’émergence du trouble bipolaire reste sujet de controverses.
Objectif et méthodes
À travers une vignette clinique, nous rapportons l’état actuel des connaissances sur le lien existant entre ces deux entités. Nous soulevons la problématique d’une telle association notamment sur le plan médico-légal.
Mlle M., âgée de 36 ans, n’a aucun antécédent psychiatrique familial ou personnel. Elle a été victime d’un accident de la voie publique ayant occasionné un traumatisme crânien sévère. Ce dernier s’est compliqué secondairement d’une épilepsie généralisée, ayant bien évolué sous anticonvulsivants. Quelques mois après l’accident, la patiente a présenté des troubles du comportement à type d’excitation psychomotrice, irritabilité et désinhibition. Ces troubles évoluaient sur un mode épisodique et n’avaient pas de lien avec les crises épileptiques. La patiente nous a consulté 5 ans après le traumatisme crânien pour un tableau maniaque sévère avec caractéristiques psychotiques évoluant depuis deux mois. Le scanner cérébral a montré une lésion temporale cortico-sous-corticale séquellaire, ainsi qu’une atrophie occipitale bilatérale.
La manie post-traumatique est une entité discutable. Quelques cas ont été rapportés dans la littérature . Certains auteurs considèrent que le traumatisme crânien peut être directement responsable d’une manie. Mais l’état actuel des recherches tend à percevoir le traumatisme crânien comme un facteur précipitant de la maladie chez une personne prédisposée. Une telle considération peut influencer l’avis de l’expert médicolégal et avoir des répercussions importantes sur les barèmes d’indemnisation des sujets victimes de traumatisme crânien.
Cluster B personality disorders are common and often correlated with higher rates of axis I comorbidity, increased severity and impaired outcome.
This study aimed to compare sociodemographic and clinical features of patients with cluster B personality disorders to those with cluster A and C.
All five years (January 2000 to December 2004) first time attendances to an outpatient psychiatric unit were retrospectively examined. 127 cases with diagnosis of personality disorders (DSM-IV criteria)were selected: Cluster B (n=81), cluster C (n=32) and cluster A (n=14). Comparaisons were performed for sociodemographic features, medical history and axis I comorbidity.
Patients with cluster B personality disorders were younger(p=0,001), had higher education level (p=0,01) and more regular jobs (p=0,01).
There was less family history of depressive (p=0,011) and anxiety disorders (p=0,021) and more personal history of alcohol abuse (p=0,001). No differences in axis I comorbidity rates were found. However, patients with cluster B personality types had more depressive disorders, addictive disorders and somatoform disorders than those with cluster C (p=0,017) and cluster A (p=0,001). Also, cluster B personality disorders were correlated to earlier onset of addictive disorders (p=0,037) and more frequent follow-up withdrawal (p=0,009).
Clusters B personality disorders were not correlated to higer axis I comorbity rate but to specific comorbid disorders and to follow-up withdrawal.