Brain-Derived neurotrophic factor (BDNF) plasma level increases in patients with resistant schizophrenia treated with electroconvulsive therapy (ECT).

OBJECTIVES: The study aimed to assess the effect of Electroconvulsive Therapy (ECT) on plasma BDNF levels in patients with resistant schizophrenia. METHODS: It was a cohort study that included 60 patients with resistant schizophrenia fulfilling the DSM-5 criteria of schizophrenia and APA criteria of resistant schizophrenia. They were divided into two groups, followed over 4 weeks, and compared to their baseline assessment. Group (A) included 45 patients who received 4-10 sessions of ECT while Group (B) included 15 patients who received the usual treatment with antipsychotics without ECT. The assessment included the severity of psychotic symptoms assessed by the Positive and Negative Symptom Scale (PANSS) in addition to plasma BDNF level. RESULTS: Patients in Group (A) had an increased level of BDNF after treatment with a statistically significant difference in comparison to their baseline BDNF level (P = 0.027). Meanwhile, patients in group (B) showed a non-significant increase in BDNF. Patients in both groups improved significantly in all PANSS subscales after treatment. CONCLUSIONS: It was concluded that plasma BDNF levels in patients with resistant schizophrenia increase after electroconvulsive therapy in association with clinical improvement.Key pointsBDNF increases after ECT treatment of resistant schizophrenia.BDNF is not correlated with the severity of psychotic symptomsPatients treated with ECT showed a better response.

Health-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1.

BACKGROUND: The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler-Najjar syndrome (CNS) type I and its impact on their lives. METHODS: Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5). RESULTS: All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL. CONCLUSION: Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation.Abbreviations: CNS: Crigler-Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford-Binet intelligence scale: 5th edition; SF-36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'-diphosphate glucuronosyltransferase; WHOQOL-BREF: World Health Organization Quality of Life Brief Version.

Polymorphism in variable number of tandem repeats of dopamine d4 gene is a genetic risk factor in attention deficit hyperactive egyptian children: pilot study.

INTRODUCTION: The variable number of tandem repeats (VNTR) of the dopamine receptor D4 (DRD4) gene among humans may elucidate individual differences in susceptibility to neuropsychiatric diseases. Dopamine dysfunction may be involved with Attention Deficit Hyperactivity Disorder (ADHD) symptoms. In this study, we report the association between the phenotype of ADHD, a condition characterized by inattentiveness, hyperactivity, and impulsiveness, and a 48-base pair VNTR in exon 3 of the DRD4 polymorphism. SUBJECTS AND METHODS: We used a case control approach conducted on 29 ADHD and 31 ethnically matched control Egyptian children (ages 6-12 years). Cases were assessed by a psychiatric semi-structured interview and the Conners' Parent Rating Scale. VNTR polymorphisms of the DRD4 gene were done by touchdown PCR program using exon 3-specific primers followed by agarose gel electrophoresis. RESULTS: We observed a significant association between the existence of D4.4 allele of DRD4 and ADHD (P, 0.002); 6.9% of cases showed a single D4.4 and 10.3% showed a double D4.4 as compared to controls in whom D4.4 has never been detected. CONCLUSION: Children with smaller number of repeat alleles (two to four repeats) of the DRD4 gene have higher possibility to develop ADHD in Egyptian children.