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Sleep disorders in patients with a first psychotic episode: a case-control study
- M. Abdellatif, H. Nefzi, J. Nasri, M. Methni, K. Rania, M. Karoui, F. Ellouze
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S450-S451
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- Article
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Introduction
Patients with chronic schizophrenia experience significant disturbances in the quality and quantity of their sleep and it had been mainly attributed to severity of symptoms and antipsychotic use. Recent studies suggested that antipsychotic-naïve early course patients with schizophrenia and their non-psychotic first-degree relatives also show altered sleep quality.
ObjectivesIn this study we aimed to compare sleep parameters in antipsychotic-naive first-episode schizophrenia patients to their healthy siblings and age- and sex-matched healthy controls.
MethodsWe conducted a cross-sectional, descriptive case-control study in the Psychiatry « G » department at Razi Hospital, for a period of six months. Our sample consisted of three groups: a group of schizophrenic patients, a group of their healthy siblings and a group of healthy controls. The three groups were matched by age and sex. The Positive and Negative Syndrome Scale (PANSS) was used to assess the severity of symptoms in patients with schizophrenia. The Morningness-Eveningness Questionnaire (MEQr), Epworth Sleepiness Scale (ESS), and Pittsburgh Sleep Quality Index (PSQI) were used in the three groups to assess Circadian preference, daytime sleepiness and sleep quality.
ResultsThere was no significant difference between the groups regarding the chronotype. Patients had significantly higher daytime sleepiness compared to siblings (p=0.001) and controls (p<0.001). Patients also had poorer quality sleep (PSQI total score) than siblings (p<0.001) and controls (p<0.001), longer sleep latency than siblings (p=0.003) and controls (p<0.001); lower habitual sleep efficiency than siblings (p=0.003) and controls (p<0.001). Siblings had poorer sleep quality (p=0.001), longer sleep latency (p=0.006) and shorter sleep duration (p=0.033) compared to control subjects.
ConclusionsOur results joined those of the literature concerning the significant prevalence of sleep disorders in early psychosis. In addition, the alteration of sleep quality in unaffected siblings compared to healthy controls supports the hypotheses suggested in the literature that sleep disorders may be markers of genetic susceptibility to schizophrenia and serve as a potential endophenotype of the disease.
Disclosure of InterestNone Declared
Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children
- Dina A. Mehaney, Alireza Haghighi, Amira K. Embaby, Reham A. Zeyada, Rania K. Darwish, Nesrine S. Elfeel, Mohamed Abouelhoda, Sonia A. El-Saiedi, Nadida A. Gohar, Zeinab S. Seliem
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- Journal:
- Cardiology in the Young / Volume 32 / Issue 2 / February 2022
- Published online by Cambridge University Press:
- 26 May 2021, pp. 295-300
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Background:
Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy.
Aim:The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children.
Methods:This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing.
Results:Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients.
Conclusions:The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.
Genetic study of pediatric hypertrophic cardiomyopathy in Egypt
- Rania K. Darwish, Alireza Haghighi, Zeinab S. Seliem, Sonia A. El-Saiedi, Nora H. Radwan, Dina F. El-Gayar, Nesrine S. Elfeel, Mohamed Abouelhoda, Dina A. Mehaney
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- Journal:
- Cardiology in the Young / Volume 30 / Issue 12 / December 2020
- Published online by Cambridge University Press:
- 05 October 2020, pp. 1910-1916
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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.