Consanguinity and its relevance to clinical genetics

Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely practiced in several global communities with variable rates. The present study was undertaken to analyze the effect of consanguinity on different types of genetic diseases and child morbidity and mortality. Patients were grouped according to the types of genetic errors into four groups: Group I: Chromosomal and microdeletion syndromes. Group II: Single gene disorders. Group III: Multifactorial disorders. Group IV: Diseases of different etiologies. Consanguineous marriage was highly significant in 54.4% of the studied group compared to 35.3% in the control group (P < 0.05). Consanguineous marriages were represented in 31.4%, 7.1%, 0.8%, 6%, 9.1% among first cousins, one and a half cousins, double first cousins, second cousins and remote relatives respectively in the studied group. Comparison between genetic diseases with different modes of inheritance showed that recessive and multifactorial disorders had the highest values of consanguinity (78.8%, 69.8%, respectively), while chromosomal disorders had the lowest one (29.1%). Consanguineous marriage was recorded in 51.5% of our cases with autosomal dominant diseases and in 31% of cases with X linked diseases, all cases of mental retardation (100%) and in 92.6% of patients with limb anomalies (P < 0.001). Stillbirths, child deaths and recurrent abortions were significantly increased among consanguineous parents (80.6%, 80%, 67%) respectively than among non consanguineous parents. In conclusion, consanguineous marriage is significantly higher in many genetic diseases which suggests that couples may have deleterious lethal genes, inherited from common ancestor and when transmitted to their offsprings, they can lead to prenatal, neonatal, child morbidity or mortality. So public health education and genetic counseling are highly recommended in our community.Keywords: Consanguinity; Chromosomal abnormality; Genetic counseling; Child death; HomozygosityThe Egyptian Journal of Medical Human Genetics (2013) 14, 157–16

Effect of Laser Therapy on the Osseointegration of Immediately Loaded Dental Implants in Patients under Vitamin C, Omega-3 and Calcium Therapy

BACKGROUND: The use of laser therapy in the biostimulation of bone repair has been growing steadily.AIM: This study aimed to evaluate the radio-densitometric effect of low-intensity laser therapy on the osseointegration of immediately loaded dental implants in patients under vitamin C, omega-3 and calcium therapy.PATIENTS AND METHODS:  A single implant was placed in the mandibular first molar region of twenty patients which were equally divided into two groups. In the non-laser group, the healing phase was left to progress spontaneously without any intervention, while in the laser group it was augmented with low-level laser therapy of wavelength 904 nm in contact mode, continuous wave, 20 mW output power and exposure time 30 sec with a dose 4.7 J/cm2. Patients in both groups were given vitamin C, calcium and omega-3 starting one month preoperatively. Postoperative digital panoramas were taken immediately after surgery, 1.5 months and 6 months postoperatively. Changes in bone density along the bone-implant interface at the mesial, distal and apical sides were assessed using the Digora software.RESULTS: Independent student t-test was used to compare means of variables between the laser and the non-laser group while repeated measures ANOVA was used to compare bone densities at different times for the same group. Significant increased differences were observed at the mesial, distal and apical sides surrounding the implants of both groups per time. However, the rate of increase was significantly higher in the laser group.  The mean difference at the mesial side after 6 months was 21.99 ± 5.48 in the laser group and 14.21 ± 4.95 in the non-laser group, while it read 21.74 ± 3.56 in the laser group and 10.78 ± 3.90 in non-laser group at the distal side and was 18.90 ± 5.91 in the laser group and 10.39 ± 3.49 in non-laser group at the apical side. Significance was recorded at P = 0.004, P = 0.0001, and 0.001 at the mesial, distal and apical sides respectively.CONCLUSION: The low-intensity laser irradiation significantly promoted bone healing and speeded up the osseointegration process emphasising the laser’s biostimulatory effect

Assessment of Osteogenic Material with and Without Low Intensity Laser Activation in Acceleration of Healing Intra-bony Defects

The purpose of this study was to evaluate the efficacy of a new material with or without Low intensity laser treatment in accelerating bone formation of an apical radiolucency through a surgical procedure. In this study a total of 30 upper anterior maxillary teeth with periapical lesions ranging from 5-8mm in diameter. Patients were divided randomly into three groups: Group A: Curettage and Filling osseous defect with Nanobone graft only (n=10).Group B: Curettage and treating the Osseous defect with Laser only (n=10).Group C: Curettage and Filling Osseous defect with Nanobone graft and treating the defect with Low intenisty laser (n=10). Cone beam was taken to determine the presence of periapical radiolucency and its approximate sizes, all patients were followed up using CBCT at 3, 6 and 12 months interval for evaluation of the bone density and size of the radiolucent area. Results: The results of our present study in case of panoramic view (CBCT), it was found that group A (NBG) and C(L+NBG) showed increase in the grey scale value(bone density), while the third group B(LG) had shown lowest grey scale value, on the other hand, in case of cross-section view (CBCT), it was found that group C(L+NBG) had shown the highest grey scale value regarding the other two groups (NBG, LG). Conclusion: The use of Nano-bone graft and Low intensity laser technique in endodontic surgery is considered an optimum choice, as they both accelerate bone and tissue healing, the use of Low intensity laser decrease the post- operative pain and symptoms, the use of CBCT is considered the only effective method for measuring the bone density or the grey value