The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and pain processing. The pathogenesis of autism may be related to dysfunction in the midbrain dopaminergic system. Therefore, we aimed to clarify how COMT gene variants affect dopamine level, and its potential impact on phenotype traits of autistic patients. 52 autistic patients were subjected to comprehensive clinical investigation, sequencing of exon 4 of the COMT gene by direct Sanger Sequencing, and measuring of dopamine levels. The clinical presentations of autistic subjects were correlated with detected COMT variants and dopamine level. Our molecular results revealed that three COMT variants were found: rs8192488 [C > T], rs4680 (Val158Met) and rs4818 [C > G]. Within autistic subjects, Val158Met rs4680 carriers were significantly distributed (71.2% P = 0.014) accompanied with abnormal dopamine, abnormal Electroencephalogram (EEG) and increasing the severity of autistic behaviour. As regards the haplotypes, CC/VM/CG block was significantly distributed among the autistic subjects (30.8%) presented with low mean dopamine level (15.8 ±â€¯4.7 pg/ml, p = 0.05), while CC/MM/CC were presented with high mean level (77.8 ±â€¯8.6 pg/ml, p = 0.05). Evidence is currently limited and preliminary, further studies are necessary in order to set up a coherent dopaminergic model of Autism Spectrum Disorder (ASD), which would further pave the way for an adequate treatment.

Vitamin D Status in Neonatal Pulmonary Infections: Relationship to Inflammatory Indicators.

AIM: The study aimed to evaluate serum vitamin D concentrations among neonates with pneumonia. METHODS: This case-control study enrolled 33 neonates with pneumonia in addition to 30 healthy controls. CBC, CRP, Serum vitamin D and Pentraxin 3 levels were measured for all participants. RESULTS: There was significant difference between patients and controls regarding Hemoglobin levels, TLC and CRP (p value < 0.01, = 0.002, < 0.01 respectively). Patients with pneumonia showed significant lower levels of Vit. D (9 ± 2.1) compared to controls (14.1 ± 2.8), P value < 0.01. However, patient group had significant higher levels of Pentraxin 3 (29.1 ± 4.8) compared with controls (12.6 ± 3), P value < 0.01. Moreover, mechanically ventilated patients revealed significant lower vit D (7.7 ± 1.8) and higher pentraxin 3 (32.2 ± 2.6) compared to patients on free oxygen (9.1 ± 2.1, 26.4 ± 3.7 respectively), P value = 0.05, 0.02 respectively. Regarding hospital stay, it had significant positive correlation with serum pentraxin 3 (r = 0.6, P value < 0.01) and significant negative correlation with serum vit D (r = -0.4, P value = 0.04). Finally a significant negative correlation between serum levels of vitamin D and Pentraxin 3 was found (r = -0.4, P value = 0.01). CONCLUSION: Lower concentration of serum vitamin D may be significantly associated with neonatal pneumonia. It also can predict the need for mechanical ventilation and duration of hospital stay in neonatal pneumonia. Similarly, higher levels of Pentraxin 3 may be used as an indicator for mechanical ventilation need and a longer hospital stay in neonates with pneumonia.

Adaptive Functioning and Psychosocial Problems in Children with Beta Thalassemia Major.

BACKGROUND: Beta thalassemia major is considered one of the serious health problems and the commonest hemoglobinopathy in Egypt that creates a burden not only on health system but also on the affected families and children who become vulnerable to emotional, social, psychological and behavioural problems. AIM: This study was designed to assess the psychosocial burden and the adaptive functioning in children with beta-thalassemia major. SUBJECTS AND METHODS: A group of 50 children with thalassemia major and 50 normal children matched for age and sex were included in a case-control study. Vineland Adaptive Functioning Scale was used to assess the adaptive functions; while the Pediatric Symptom Checklist (PSCL) was used to assess psychosocial morbidity. RESULTS: A group of 50 children aged 5-17 years old with thalassemia major, their mean age was 11.05 ± 3.8, showed a statistically significant lower total adaptive behaviour score and communication subscale score. All the mean values of adaptive behaviour for cases and controls were within the average values. Results from the PSCL revealed no significant difference between mean scores of children with thalassemia and controls. A score of attention domain was markedly higher in children with thalassemia. Internalising behaviour was the most dominant as it was detected in 10% of the patient group. CONCLUSION: Thalassemic patients had a relatively mild affection for adaptive and psychosocial functioning that can be explained by social and medical support they receive, which may increase their competence and psychological wellbeing.

Role of Procalcitonin As an Inflammatory Marker in a Sample of Egyptian Children with Simple Obesity.

BACKGROUND: Obesity is a multifactorial disease, associated with metabolic disorders and chronic low-grade inflammation. Procalcitonin (PCT) is well known as a biomarker of infection, and systemic inflammation. Recently, it has potential as a marker for chronic low-grade inflammation. AIM: This study aims to evaluate the role of serum PCT as an inflammatory biomarker in the diagnosis of obesity-related low-grade inflammation. METHOD: In this case-control study, 50 obese and 35 normal weight children and adolescents aged 5-15 years were enrolled. Anthropometric parameters were measured in all subjects. Blood samples were collected for measurement of lipid profile, blood glucose, insulin, high sensitivity-CRP (Hs-CRP) and serum procalcitonin. Serum (PCT) levels were assessed using enzyme-linked immunosorbent assay. RESULTS: Obese participants had higher concentrations of serum PCT, total cholesterol, triglycerides, LDL-c, glucose and Hs-CRP than control group. On correlation analysis, procalcitonin had significant positive correlation with (BMI) z-score (P = 0.02), insulin (P = 0.00), insulin resistance (HOMA-IR) (P = 0.006), Hs-CRP (P = 0.02), total cholesterol (P = 0.04) and triglycerides (P = 0.00) in obese group. CONCLUSION: The increased serum procalcitonin concentrations were closely related to measures of adiposity, Hs-CRP and insulin resistance, suggesting that PCT may be an excellent biomarker for obesity-related chronic low-grade inflammation in children and adolescents.

Serum Apelin and Obesity-Related Complications in Egyptian Children.

BACKGROUND: The rapidly increasing prevalence of childhood obesity became a major burden on health worldwide, giving an alarm to clinicians and researchers. Adipocytes act as an active endocrine organ by releasing plenty of bioactive mediators (adipokines) that play a major role in regulating metabolic processes. Apelin is a recently identified adipokine that is expressed in adipocytes. AIM: The current work aimed to uncover the relation between serum apelin and childhood obesity and its related complications as hypertension and hyperglycemia. METHOD: A group of 50 obese and 31 non-obese; sex- and age-matched children were enrolled in our study with a mean age of (9.5 ± 2.1) and (8.7 ± 1.3) respectively. Anthropometric measurements, blood pressure, were assessed in all studied participants, we also determined the lipid profile, serum insulin, fasting blood glucose (FBG) level, HOMA-IR and serum apelin. RESULTS: Obese children had higher levels of HbA1c, FBG, serum insulin, HOMA-IR, total cholesterol, triglycerides, low-density lipoprotein (LDL) and diastolic blood pressure (DBP Z-score); compared to controls (all P < 0.05). Apelin was significantly higher in obese children versus controls and correlated positively with BMI Z-Score (P = 0.008), DBP Z-Score (P = 0.02), cholesterol, TG (both P = 0.02), serum insulin (P = 0.003), FBG and HOMA-IR (both P = 0.001). Linear regression analysis showed that FBG was the most effective factor in predicting the level of serum apelin (P = 0.04). CONCLUSION: This work supports the hypothesis that apelin may have a crucial role in the pathogenesis of health hazards related to obesity in children including insulin resistance, hypertension and a higher risk of occurrence of metabolic syndrome.

Serum Apelin: A New Marker of Early Atherosclerosis in Children with Type 1 Diabetes Mellitus.

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases in children that may be complicated by micro or macrovascular complications. Measurement of the carotid intima-media thickness (CIMT) allows the early detection of atherosclerotic alterations of blood vessels that may complicate T1DM. SUBJECTS AND METHODS: This study is a case-control study. Participants were classified into two groups. The first group included 40 children with T1DM and the second group included 30 matched healthy controls. The studied cases were recruited from Endocrinology and Diabetology Unit, Pediatric Hospital, Ain Shams University. Serum apelin, cholesterol, TG, LDL were measured for every case. Also, albumin level was analyzed in urine. Measurement of the carotid intima-media thickness (CIMT) was done for all cases. RESULTS: Comparison between T1DM patients and controls revealed that serum apelin, cholesterol, TG, LDL and albuminuria were significantly increased in cases compared to controls. Significant positive correlations were detected between HbA1C, albuminuria and lipid profile with apelin in the diabetic group (p < 0.05). CIMT has significant positive correlation with serum apelin levels (r = 0.36, p = 0.05). Also, this study found positive correlations between CIMT and some variables as LDL, SBP z-score and duration of the illness. CONCLUSION: Increased levels of serum apelin in T1DM patients may be considered as predicting factor for the ongoing development of vascular sequels. This study highlighted the possible validity of apelin assay as an early predictor of atherosclerosis in T1DM children. Evaluating CIMT in these patients is of at most important for early detection of subclinical atherosclerosis.