1.Prevalence of Turkish Parent Refusal and Hesitance Rate and Its Associated Factors in Childhood Vaccination (Prevalens Kadar Penolakan dan Keraguan Vaksinasi Kanak-kanak dan Faktornya Dalam Kalangan Ibu Bapa Turki )
ALI Ö ; ZLEM ; ARZU Ö ; ZLEM ; MESUT KOÇ ; AK ; NIMETCAN MEHMET
Malaysian Journal of Health Sciences 2022;20(No.2):11-22
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%).
2.A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome
Ç ; iğdem GENÇ ; SEL ; Ahmet Cevdet CEYLAN ; Ö ; zlem YAYICI KÖ ; KEN ; Deniz YÜ ; KSEL ; Kader Karlı OĞUZ
Neurology Asia 2020;25(3):401-413
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.