Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and chromosomal microarray analysis (CMA) in patients with CAs among a population with a high fraction of consanguineous marriage. Depending on the patient's symptoms and family history, karyotype/Quantitative Fluorescence- Polymerase Chain Reaction (QF-PCR) (n = 84), CMA (n = 81), ES (n = 79) or combined CMA and ES (n = 24) were performed on 168 probands (66 prenatal and 102 postnatal) with CAs. Twelve (14.28%) probands were diagnosed by karyotype/QF-PCR and seven (8.64%) others were diagnosed by CMA. ES findings were conclusive in 39 (49.36%) families, and 61.90% of them were novel variants. Also, 64.28% of these variants were identified in genes that follow recessive inheritance in CAs. The diagnostic rate (DR) of ES was significantly higher than that of CMA in children from consanguineous families (P = 0·0001). The highest DR by CMA was obtained in the non-consanguineous postnatal subgroup and by ES in the consanguineous prenatal subgroup. In a population that is highly consanguineous, our results suggest that ES may have a higher diagnostic yield than CMA and should be considered as the first-tier test in the evaluation of patients with congenital anomalies.

Effectiveness of Viola Flower Syrup Compared with Polyethylene Glycol in Children with Functional Constipation: A Randomized, Active-Controlled Clinical Trial.

BACKGROUND: Functional constipation (FC) is a health concern that is prevalent in the pediatric population. It lowers the quality of life and increases the probability of comorbidities. As a complementary modality, herbal medicine has been considered useful in a variety of conditions. Persian medicine (PM) resources mention the Viola flower as an effective herb in treating constipation. The purpose of the current trial was to evaluate the efficacy of Viola flower syrup (VFS) compared with polyethylene glycol (PEG) in children with functional constipation. METHODS: This randomized, active-controlled, single-center trial was conducted on 140 children aged between 4 and 10 years with confirmed FC according to Rome III criteria. Participants were randomly assigned to receive either VFS or PEG for four weeks. Independent t-test and general linear model (GLM) repeated measures analysis of variance were used to determine the intergroup difference, and paired sample t-test was used to evaluate the intragroup difference. RESULTS: After four weeks of intervention, 133 individuals (66 in VFS and 67 in the PEG group) were analyzed. Results of both groups demonstrated significant improvement in all measured criteria at the end of the study compared to baseline (P < 0.001). No significant difference was observed between the two groups at baseline or at the end of the study (P > 0.05), except for fecal retention at baseline (P=0.028). Participants in the PEG group experienced more side effects compared to the VFS group. CONCLUSION: The findings of this investigation indicated that VFS is an effective and relatively safe medication to be used in the treatment of pediatric FC.

Maternal and neonatal outcomes of abnormal placentation: a case-control study.

BACKGROUND: There is limited information on neonatal outcomes in complicated pregnancies with abnormal placentation. The aim of this study was to assess the neonatal outcomes of abnormal placentation. METHODS: In this case-control study, known cases of abnormal placentation between the years 2010 and 2017 were extracted. The case group consisted of pregnant women with abnormal placentation (172 cases), while controls were selected from repeated cesarean section cases with normal placentation (341 people). RESULTS: In the case group, 145 cases (84.3%) had placenta accreta, 12 cases (7.07%) had placenta increta and five cases (8.7%) had placenta percreta. Characteristics significantly more common in the case group included lower mean gestational age and average neonatal weight (p < .001), low birth weight (LBW) and small for gestational age (SGA) (p < .001), admission to the NICU (p < .001), higher average number of hospitalization days in the NICU (p < .05), lower average 5-minute Apgar scores (p < .001), neonatal seizure (p = .004), cranial hemorrhage (p = .037), anemia (p = .002) and thrombocytosis (p = .029). The occurrence of abnormal placentation was associated with some underlying maternal characteristics such as high maternal age (p = .34), lower maternal weight (p = .044), multiparity (p = .11), history of previous abortion (p = .036), and history of cesarean (p = .001). The prevalence of placenta previa was significantly higher in the case group (p < .001). CONCLUSION: The presence of placenta previa has a close relationship with abnormal placentation and is considered to be a potential risk factor for LBW, SGA, lower 5 minutes Apgar scores, first-day seizure, cranial hemorrhage, the necessity for NICU admission and occurrence of anemia and thrombocytosis in neonates.

Healthcare professionals-related factors affecting parents' participation in decision making for neonates with life-threatening conditions: A qualitative study.

RATIONALE, AIMS, AND OBJECTIVES: Neonates with life-threatening conditions face complex clinical circumstances that confront parents and professionals with ethical decisions. Parents' participation in decision making has not gained sufficient attention in practice. Understanding factors affecting parents' participation is required. This study is part of a comprehensive project that explored the process of parents' participation in decision making for neonates with life-threatening conditions. The current study aimed to explore healthcare professionals-related factors affecting parents' participation in decision-making for neonates with life-threatening conditions. METHODS: A grounded theory methodology was used in the comprehensive project. Twenty-two interviews/68 hours of observation were conducted. Data were concurrently analysed throughout data generation and constant comparative analysis. Data collected until theoretical saturation was reached, the extracted categories were coherent and the emerging theory made sense. After coding stages, the core category and the relationships with other main categories involved in the process of parents' participation in decision-making were developed. For this study, the category reflecting healthcare professionals-related factors affecting parents' participation in decision-making was reported. RESULTS: Four themes were found: risk aversion including fear of litigation, fear of being accountable to the parents, and fear of bearing emotional distress; unprofessionalism including poor adherence to professional ethics, inadequate skill/knowledge, poor communication, and nurses' negligence in playing their professional role; information deficiencies including insufficient information, conflicting information, and complex and technical information, and clashes of attitudes including conflict about parents' participation in decision-making and conflict about the best interest of neonates. CONCLUSION: Professionals should be aware of their role in involving parents in decision making. Training professionals on family centred care principle and communication skills contribute to support parents emotionally and respond empathically to their negative expressions. Training on ethics, development, and dissemination of guidelines and rules of conduct can make professionals more sensitive to ethical aspects of their work and may reduce their fear of litigation.

Antibiotic Susceptibility Evaluation of Group A Streptococcus Isolated from Children with Pharyngitis: A Study from Iran.

BACKGROUND: The aim of this study was to evaluate the antibiotic susceptibility of Group A streptococcus (GAS) to antibiotics usually used in Iran for treatment of GAS pharyngitis in children. MATERIALS AND METHODS: From 2011 to 2013, children 3-15 years of age with acute tonsillopharyngitis who attended Mofid Children's Hospital clinics and emergency ward and did not meet the exclusion criteria were enrolled in a prospective study in a sequential manner. The isolates strains from throat culture were identified as GAS by colony morphology, gram staining, beta hemolysis on blood agar, sensitivity to bacitracin, a positive pyrrolidonyl aminopeptidase (PYR) test result, and the presence of Lancefield A antigen determined by agglutination test. Antimicrobial susceptibility was identified by both disk diffusion and broth dilution methods. RESULTS: From 200 children enrolled in this study, 59 (30%) cases were culture positive for GAS. All isolates were sensitive to penicillin G. The prevalence of erythromycin, azithromycin, and clarithromycin resistance by broth dilution method was 33.9%, 57.6%, and 33.9%, respectively. Surprisingly, 8.4% of GAS strains were resistant to rifampin. In this study, 13.5% and 32.2% of the strains were resistant to clindamycin and ofloxacin, respectively. CONCLUSION: The high rate of resistance of GAS to some antibiotics in this study should warn physicians, especially in Iran, to use antibiotics restrictedly and logically to prevent the rising of resistance rates in future. It also seems that continuous local surveillance is necessary to achieve the best therapeutic option for GAS treatment.