ABSTRACT
Objective: We aimed to evaluate the clinical profile and radiological findings of children with nutcracker syndrome (NCS) and to assess the association between the parameters. Methods: A retrospective analysis of the clinical, laboratory and radiological parameters of children diagnosed with NCS between January, 2011 and October, 2017 was done. Results: Of a total of 29 patients [19 girls, 65.5%] with NCS, having a mean (SD) age of 10.8 years, 72.4% had BMI <-2SD. Approximately half of the patients (51.7%) were asymptomatic. Left flank pain was commonest (9/29; 31%) symptom, followed by macroscopic hematuria (4/29; 13.8%). Isolated proteinuria was seen in 9 children. There was no significant difference between the symptomatic and asymptomatic patients in terms of Doppler ultrasonography findings. All patients were followed up conservatively, 5 received enalapril therapy for moderate proteinuria. Conclusion: NCS should be considered in children, especially with low BMI, presenting with orthostatic proteinuria and hematuria, with or without left flank pain after ruling out the common causes.
ABSTRACT
@#The Rejection of childhood vaccination is still a major issue in many countries. The aim of the study was to assess prevalence of Turkish parent refusal and hesitance rate and its associated factors in Childhood vaccination. A crosssectional study was carried out at the General Pediatric Poly Clinic of Ankara Keçören Training and Research Hospital from January – to April 2020. Data was collected using a questionnaire via face to face interviews with parents. We included parents who have 6 months to 7 years old children, who visited the clinic during the study period and who accepted to join the study. A total of 809 mothers and 132 fathers participated in the survey. Among the parents, 1.2% of them refused the vaccination of their children and 4.8 % of them had incomplete vaccination of their children. More than half (67.4%) of the parents have a high level of knowledge about vaccines. knowledge level was statistically significantly different based on the participant’s occupation, income, education background and father’s age (P <0.05). A majority (72.2%) of the participants had good attitudes toward childhood vaccination, there is no statistically significance based on their occupation, age, income and education background (P > 0.05). Parents with one child had bad attitudes towards vaccines (35.4%).
ABSTRACT
@#Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNAwas extracted from the peripheral blood of our patient and her parents. To investigate the moleculardiagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysiswas performed for all of the family members for the validation and segregation of this mutation. PubMed/Medline, Web of Science, and Google Scholar were also searched to find all of the publisheddata on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of ourpatient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutationwas also found to be heterozygous in her mother and father. The mutation caused alternative splicingof the ROGDI translation and resulted in a disruption of the ROGDI protein.