Novel Genetic Determinants of Dental Maturation in Children.

Dental occlusion requires harmonious development of teeth, jaws, and other elements of the craniofacial complex, which are regulated by environmental and genetic factors. We performed the first genome-wide association study (GWAS) on dental development (DD) using the Demirjian radiographic method. Radiographic assessments from participants of the Generation R Study (primary study population, N1 = 2,793; mean age of 9.8 y) were correlated with ~30 million genetic variants while adjusting for age, sex, and genomic principal components (proxy for population stratification). Variants associated with DD at genome-wide significant level (P < 5 × 10-8) mapped to 16q12.2 (IRX5) (lead variant rs3922616, B = 0.16; P = 2.2 × 10-8). We used Fisher's combined probability tests weighted by sample size to perform a meta-analysis (N = 14,805) combining radiographic DD at a mean age of 9.8 y from Generation R with data from a previous GWAS (N2 = 12,012) on number of teeth (NT) in infants used as proxy of DD at a mean age of 9.8 y (including the ALSPAC and NFBC1966). This GWAS meta-analysis revealed 3 novel loci mapping to 7p15.3 (IGF2BP3: P = 3.2 × 10-8), 14q13.3 (PAX9: P = 1.9 × 10-8), and 16q12.2 (IRX5: P = 1.2 × 10-9) and validated 8 previously reported NT loci. A polygenic allele score constructed from these 11 loci was associated with radiographic DD in an independent Generation R set of children (N = 703; B = 0.05, P = 0.004). Furthermore, profiling of the identified genes across an atlas of murine and human stem cells observed expression in the cells involved in the formation of bone and/or dental tissues (>0.3 frequency per kilobase of transcript per million mapped reads), likely reflecting functional specialization. Our findings provide biological insight into the polygenic architecture of the pediatric dental maturation process.

Ovarian vein thrombosis--a case report.

OBJECTIVE AND IMPORTANCE: Ovarian vein thrombosis is a rare condition usually seen in the puerperium. The incidence is 0.05-0.18% of pregnancies. Possible complications of ovarian vein thrombosis are sepsis, thrombus extension into the inferior vena cava or renal veins and pulmonary embolism. CLINICAL PRESENTATION: A 31-year-old puerpera complained about abdominal pain in the right lower quadrant and right inguinal region. INTERVENTION: Ultrasonographic examination and multislice computed tomography (MSCT) revealed the right ovarian vein thrombosis. Patient was treated with low-molecular weight heparin and antibiotics for 2  weeks. She was discharged with oral anticoagulants for 6  months. CONCLUSION: Ovarian vein thrombosis should be taken under consideration in the post-partum period.

Comparison of intermittent and continuous epidural analgesia on delivery and progression of labour.

In this study, 205 nulliparous parturients were enrolled to receive either intermittent (n = 101) or continuous (n = 104) type of epidural analgesia in labour. The primary outcome was rate of caesarean deliveries, whereas secondary outcomes included rate of fundal pressure manoeuvres, duration of labour from application of analgesia, dose of anaesthetic and short-term maternal and neonatal outcome between two groups. Rate of caesarean deliveries was significantly increased in the continuous group (15/104 vs 5/101, p = 0.02), as well as rate of fundal pressure manoeuvres (24/104 vs 11/101, p = 0.02) and dose of fentanyl (100 [100-300] vs 187.5 [125-450] µg, p < 0.001 and levobupivacaine (40 [40-60] vs 75 [50-90] ml, p < 0.001). Duration of labour from analgesia to delivery was not significantly different between the two groups (414 ±â€Š101 vs 432 ±â€Š94 min, p = 0.12).