Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. We recruited twelve individuals from eleven families with a clinical diagnosis of CMD with brain malformations that fell into two groups: seven patients with suspected dystroglycanopathy and five patients with suspected merosin-deficient CMD. WES was analyzed by variant filtering using multiple approaches including splicing and copy number variant (CNV) analysis. We identified likely pathogenic variants in FKRP in two cases and variants in POMT1, POMK, and B3GALNT2 in three individuals. All individuals with merosin-deficient CMD had truncating variants in LAMA2. Further analysis in one of the two unsolved cases showed a homozygous protein-truncating variant in Feline Leukemia Virus subgroup C Receptor 1 (FLVCR1). FLVCR1 loss of function has never been previously reported. Yet, loss of function of its paralog, FLVCR2, causes lethal hydranencephaly-hydrocephaly syndrome (Fowler Syndrome) which should be considered in the differential diagnosis for dystroglycanopathy. Overall, we reached a diagnostic rate of 86% (6/7) for dystroglycanopathies and 100% (5/5) for merosinopathy. In conclusion, our results provide further evidence that WES is an important diagnostic method in CMD in developing countries to improve the diagnostic rate, management plan, and genetic counseling for these disorders.

Physico-mechanical properties and bacterial adhesion of resin composite CAD/CAM blocks: An in-vitro study.

Background: The recent introduction of CAD/CAM technology has been strongly impacting the workflow in dental clinics and labs. Among the used CAD/CAM materials, resin composite CAD/CAM blocks offer several advantages. The aim of this study was to evaluate the physico-mechanical properties and bacterial adhesion of a recently introduced nanoceramic hybrid material (Grandio Blocs) comparing it to a nanoceramic CAD/CAM material (Lava Ultimate). Material and Methods: A total of 82 specimens were prepared; 41 specimens from each material. For flexural strength testing, bar shaped specimens were sectioned from each material and flexural strength was evaluated using a three point bending test. For surface hardness, specimens with 2 mm thickness were prepared, polished and tested using Vickers micro-hardness tester. For wear evaluation, specimens were tested in a block on ring tribometer and the amount of weight loss was determined. A stylus profilometer was used to evaluate the surface roughness of disc shaped specimens in three directions. For the bacterial adhesion, the same specimens from the roughness test were used to evaluate the adhesion of Streptococcus mutans to the surface of each material after incubation for 24 hours. The correlation between surface roughness and bacterial adhesion was also investigated. Results: The nano-ceramic hybrid CAD/CAM material exhibited significantly higher flexural strength and surface hardness than the nano-ceramic CAD/CAM material. It also showed significantly lower surface roughness and surface bacterial adhesion and lower wear that was not significantly different. A positive correlation was found between surface roughness and bacterial adhesion of both materials. Conclusions: The nano-ceramic hybrid CAD/CAM material showed better physico-mechanical properties compared to the nano-ceramic CAD/CAM material which could be attributed to the use of nanohybrid filler system and an enhanced resin matrix structure. Key words:CAD/CAM blocks, nano-ceramic hybrid, flexural strength, wear, surface hardness, surface roughness, bacterial adhesion.

Genetic determinants of essential hypertension.

This study aimed at determining the role of genetic and environmental risk factors in the development of essential hypertension in Alexandria, Egypt. A case-control-study was conducted in the Main Health Insurance Hospital, (MHI) Alexandria, Egypt, whereby cases previously diagnosed as hypertensive were included in the study. A hospital-based control group visiting the hospital for other unrelated conditions and randomly selected in the same day as cases was also included in the study. Both cases and controls were subjected to a semi-structured questionnaire including information concerning socio-demographic data and risk factors for hypertension Only cases were subjected to segregation analysis. This study included 165 cases with history of essential hypertension, and 196 controls. Multivariate analysis of potential risk factors showed the following factors to be independently associated with an increased risk of essential hypertension: age over 40 years, elevated BMI, workers, ever smoker and stress. Education less than 6 years remained in the model as an independent protective effect. Segregation analysis proved that the disease is not inherited as single gene mode of inheritance. On the other hand, the heritability for 1st, 2nd and 3rd degree relative was 28.2%, 28.7% and 20.0%. These figures provide evidence to multifactorial mode of inheritance in essential hypertension.