Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

BACKGROUND: Several inherited metabolic diseases are underreported in Vietnam, namely glucose-6-phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. METHODS: Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. RESULTS: Of 3259 women screened across Vietnam, 450 (13.8%) carried disease-associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. CONCLUSION: This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost-effective genetic metabolic carrier screening programmes.

Effects of orthodontic treatment on mandibular rotation and displacement in Angle Class II division 1 malocclusions.

The aim of this retrospective cephalometric study was to investigate the effects of orthodontic treatment on rotation and displacement of the mandible in Angle Class II, division 1 malocclusions. Thirty patients in the treated group (15 boys and 15 girls; mean age at pretreatment, 12.27 +/- 1.36 years) were compared with 28 subjects who had untreated Class II, division 1 malocclusions (15 boys and 13 girls; mean age at T1, 12.01 +/- 0.07 years). The patients in the first group were treated nonsurgically, without extraction, and without the use of functional appliances. Cephalometric data were obtained from three lateral cephalograms per case representing pretreatment (T1), posttreatment (T2), and at least 2-years postretention (T3). Thirty-seven variables were measured representing craniofacial morphology, tooth measurements, and mandibular displacement. Some variables were obtained from cranial base, maxillary, or mandibular superimposition. Statistical significance was established at P < .05, P < .01, and P < .001. The findings indicated that orthodontic treatment of Class II, division 1 malocclusions induced a more vertical mandibular growth direction associated with an increased vertical displacement of pogonion. Occlusal or vertical movement of maxillary and mandibular molars was not correlated to mandibular rotation or horizontal displacement of pogonion. When compared with controls, the treated group did not exhibit a significant difference in mandibular rotation or occlusal movement of maxillary molars; however, it did show a greater occlusal movement of mandibular molars during treatment.