Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.
Objective To evaluate the severity of the dental arch relationships and the treatment outcomes of reverse headgear (RHG) in southern Chinese patients with unilateral cleft lip and palate (UCLP). Design A retrospective study. Setting Faculty of Dentistry, The University of Hong Kong. Patients Thirty-eight UCLP patients with complete records. Among them, 14 were later treated with RHG (RHG group) and 24 were under review (non-RHG group) before definitive orthodontic or in conjunction with orthognathic surgery. Interventions Study models at T1 (aged 9.4 ± 0.4 years old), prebone grafting and before any orthodontic treatment started; T2 (aged 11.3 ± 0.6 years old), after bone grafting, and RHG treatment (RHG group) or under review (non-RHG group); and T3 (aged 15.3 ± 3.2 years old), pretreatment of definitive orthodontic or in conjunction with orthognathic surgery. Main Outcome Measures With satisfactory intra- and interexaminer agreement proven by the kappa value, the dental arch relationships of the study models at T1, T2, and T3 were assessed by a solo calibrated examiner using the GOSLON Yardstick. Results The median GOSLON score for southern Chinese patients with UCLP at T1 was 4.0. Sixty percent of the patients were categorized as "poor" at T1. RHG significantly improved dental arch relationships from T1 to T2, and the improvement was maintained until T3 assessed by the GOSLON Yardstick. Conclusions The dental arch relationships in southern Chinese UCLP patients at 8 to 10 years old are unfavorable. RHG treatment shows positive effects in improving the dental arch relationships in UCLP patients, as assessed by the GOSLON Yardstick.
The presented study was designed to probe the toxicity potential of newly identified compound naphthalen-2-yl 3,5-dinitrobenzoate (SF1). Acute, subacute toxicity and teratogenicity studies were performed as per Organization of economic cooperation and development (OECD) 425, 407, and 414 test guidelines, respectively. An oral dose of 2000 mg/kg to rats for acute toxicity. Furthermore, 5, 10, 20, and 40 mg/kg doses were administered once daily for 28 days in subacute toxicity study. Teratogenicity study was performed with 40 mg/kg due to its excellent anti-Alzheimer results at this dose. SF1 induced a significant rise in Alkaline Phosphatases (ALP), bilirubin, white blood cells (WBC), and lymphocyte levels with a decrease in platelet count. Furthermore, the reduction in urea, uric acid, and aspartate transaminase (AST) levels and an increase in total protein levels were measured in subacute toxicity. SF1 increased spermatogenesis at 5 and 10 mg/kg doses. Teratogenicity study depicted no resorptions, early abortions, cleft palate, spina bifida and any skeletal abnormalities in the fetuses. Oxidative stress markers (Superoxide dismutase (SOD), Catalase (CAT), and glutathione (GSH) were increased in all the experiments, whereas the effect on melanoaldehyde Malondialdehyde (MDA) levels was variable. Histopathology further corroborated these results with no change in the architectures of selected organs. Consequently, a 2000 mg/kg dose of SF1 tends to induce minor liver dysfunction along with immunomodulation, and it is well below its LD 50 . Moreover, it can be safely used in pregnancy owing to its no detectable teratogenicity.
The prevalence of cleft lip and palate in human is 1 in 500 live births worldwide. Non·syndromic clefts are a complex trait with both genetic and environmental etiology. The aim ofthe study was to assess the association between maternal exposure to second-hand smoke during pregnancy and ruk of having cleft child. Unmatched case-control study was carried out among Malays in Kelantan.
1 Case and control subjects were denned as mothers of cleft children and mothers of normal children respectively. The cleft children were recruited from the Combined Cleft Clinic at Kota Bharu Dental Clinic. Normal chiMren were selected at Orthodontic Clinic, Kota Bharu. A total of 184 cases and controb with age range from 17 to 50 years were interviewed using the standard craniofacial
registration form. Multiple Logistic Regression modeling was used to estimate adjusted odds ratio of factors associated with non-syndromic oral cleft. Signijicant factors include history of miscarriage (OR: 3.40; 95% C1:1.05, 11 .08) p=0.042; duration of exposure to second-hand smoke for 15-30 minutes (OR: 2.41; 95% C1:1.42, 4.09) p 30 minutes (OR: 5.16; 95% C1:Z.87, 9.28) p