Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects : A Population-based Study

Background: Congenital vertebral anomalies are a heterogeneous group of diagnoses, and studies on their epidemiology are sparse. Our aim was to investigate the national prevalence and mortality of these anomalies, and to identify associated anomalies. Methods: We conducted a population-based nationwide register study and identified all cases with congenital vertebral anomalies in the Finnish Register of Congenital Malformations from 1997 to 2016 including live births, stillbirths, and elective terminations of pregnancy because of major fetal anomalies. Cases were categorized based on the recorded diagnoses, associated major anomalies were analyzed, and prevalence and infant mortality were calculated. Results: We identified 255 cases of congenital vertebral anomalies. Of these, 92 (36%) were diagnosed with formation defects, 18 (7.1%) with segmentation defects, and 145 (57%) had mixed vertebral anomalies. Live birth prevalence was 1.89 per 10,000, and total prevalence was 2.20/10,000, with a significantly increasing trend over time (P < 0.001). Overall infant mortality was 8.2% (18/219); 3.5% (3/86) in patients with formation defects, 5.6% (1/18) in segmentation defects, and 12.2% (14/115) in mixed vertebral anomalies (P = 0.06). Co-occurring anomalies and syndromes were associated with increased mortality, P = 0.006. Majority of the cases (82%) were associated with other major anomalies affecting most often the heart, limbs, and digestive system. Conclusions: In conclusion, the prevalence of congenital vertebral anomalies is increasing significantly in Finnish registers. Detailed and systematic examination is warranted in this patient population to identify underlying comorbidities as the majority of cases are associated with congenital major anomalies.Peer reviewe

Prevalence and risk factors of radial ray deficiencies: A population based case-control study

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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes

Gastroschisis in Finland 1993 to 2014-Increasing Prevalence, High Rates of Abortion, and Survival : A Population-Based Study

Introduction The study aims to assess the changes in prevalence and mortality of gastroschisis, and to identify associated anomalies. Materials and Methods It is a population-based nationwide study. All gastroschisis cases were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded, and analyzed, and prevalence and infant mortality were calculated. Results There were 320 cases of gastroschisis; 235 (73%) live births, 16 (5%) stillbirths, and 69 (22%) terminations of pregnancy. Live birth prevalence of gastroschisis in Finland was lower than generally reported (1.73 in 10,000). However, due to relatively high rates of abortion, our total prevalence of 2.57/10,000 was similar with other reports. The most common risk factor was young maternal age. Babies with gastroschisis were born prematurely, on average on the 36th week and most are delivered by caesarean section. There was a significant increasing trend in live birth prevalence ( p =0.0018). Overall infant mortality was 7.7% (18/235), 7.2% (16/222) in simple gastroschisis and 15% (2/13) in complex gastroschisis. Associated anomalies were rare both in aborted fetuses and neonates, and there was only one case with a chromosomal abnormality. Conclusion Gastroschisis is usually an isolated anomaly with increasing birth prevalence and excellent survival rates. Regardless of the good prognosis, the abortion rates in Finland are higher than previously reported, and we hypothesize this to be due to lack of appropriate antenatal counselling.Peer reviewe

Health-related quality of life after segmental pedicle screw instrumentation : a matched comparison of patients with neuromuscular and adolescent idiopathic scoliosis

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