CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

Purpose: Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in PCG Egyptian patients, and study a possible genotype/phenotype correlation.Methods: Ninety-eight patients with PCG diagnosed at the Ophthalmology department ofAlexandria Main University Hospital were enrolled. Demographic and phenotypic characteristics were recorded. Patients and 100 healthy subjects (control group) were screened for two mutations in CYP1B1 gene (G61E, R368H) and one mutation in MYOC gene (Gln48His) using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Phenotypic characteristics pertaining to disease severity were compared.Results: Nineteen patients (19%) with PCG were found positive for one or more of the mutations screened for. Seven patients (7%) were homozygous for the G61E mutation. Ten patients (10%) were heterozygous; 6 for the G61E mutation, 2 for the R368H mutation and 2 for the Gln48His mutation. Two patients (2%) were double heterozygotes harboring a R368H as well as a Gln48His mutation. The most common mutation observed was the G61E in 13 patients; 7 homozygotes and 6 heterozygotes for the mutation. The control group were negative for all mutations screened for. No significant correlations between the mutations and phenotype severity were detected. A statistically significant positive correlation however was found between the different mutations andeach of the IOP and the cup/disk ratio.Conclusion: The current study further endorses the role of CYP1B1 mutations in the etiology of PCG among Egyptian patients and is the first study to report MYOC gene mutation in Egyptian patients with PCG

Reliability of routinely collected anthropometric measurements in primary care

Background Measuring body mass index (BMI) has been proposed as a method of screening for preventive primary care and population surveillance of childhood obesity. However, the accuracy of routinely collected measurements has been questioned. The purpose of this study was to assess the reliability of height, length and weight measurements collected during well-child visits in primary care relative to trained research personnel. Methods A cross-sectional study of measurement reliability was conducted in community pediatric and family medicine primary care practices. Each participating child, ages 0 to 18 years, was measured four consecutive times; twice by a primary care team member (e.g. nurses, practice personnel) and twice by a trained research assistant. Inter- and intra-observer reliability was calculated using the technical error of measurement (TEM), relative TEM (%TEM), and a coefficient of reliability (R). Results Six trained research assistants and 16 primary care team members performed measurements in three practices. All %TEM values for intra-observer reliability of length, height, and weight were classified as ‘acceptable’ ( 99% for both intra- and inter-observer reliability. Length measurements in children Conclusion There was agreement between routine measurements and research measurements although there were some differences in length measurement reliability between practice staff and research assistants. These results provide justification for using routinely collected data from selected primary care practices for secondary purposes such as BMI population surveillance and research.</p