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- Suominen, EN, et al.
(author)
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Health-related quality of life outcomes in adolescent Scheuermann's kyphosis patients treated with posterior spinal fusion: A comparison with age- and sex-matched controls
- 2022
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In: Journal of children's orthopaedics. - : SAGE Publications. - 1863-2521 .- 1863-2548. ; 16:4, s. 290-296
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Journal article (peer-reviewed)abstract
- To assess the health-related quality of life and radiographic outcomes of surgically treated adolescent Scheuermann’s kyphosis patients after minimum of 2-year follow-up and to compare the health-related quality of life with age- and sex-matched healthy controls. Methods: Twenty-two consecutive adolescents (mean age = 16.7 years) undergoing posterior spinal fusion for Scheuermann’s kyphosis were included and matched by age and sex with two healthy controls. The health-related quality of life was evaluated using the Scoliosis Research Society-24 questionnaire. Radiographic parameters were measured for comparison preoperatively and at 6 months and 2-year follow-ups. The health-related quality of life parameters were compared with healthy controls at 2 years of follow-up. Results: The mean maximal thoracic kyphosis improved from 79° (range = 75°–90°) to 55° (range = 45°–75°) ( p < 0.001), and the mean lumbar lordosis was reduced from 71° (range = 51°–107°) to 52° (range = 34°–68°) ( p < 0.001) after 2 years postoperatively. Incidence of proximal junctional kyphosis (PJK) was 18%. The scores of the Scoliosis Research Society-24 improved, with statistical significance observed in pain and self-image domains from preoperative to 2-year follow-up ( p = 0.002 in both domains). The self-image and function were significantly lower in the operated patients at their 2-year follow-up visit compared to controls ( p = 0.023 for self-image and p < 0.001 for function). Conclusion: Instrumented posterior spinal fusion improves the health-related quality of life of Scheuermann’s kyphosis patients during the 2-year follow-up. The greatest improvement is observed in pain and self-image domains. The health-related quality of life in pain and activity domains reaches the level of healthy individuals, while function and self-image remain at a statistically lower level.
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- Helenius, I.
(author)
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Monte Carlo event generation of photon-photon collisions at colliders
- 2015
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Conference paper (peer-reviewed)abstract
- In addition to being interesting in itself, the photon-photon interactions will be an inevitable background for the future electron-positron colliders. Thus to be able to quantify the potential of future electron-positron colliders it is important to have an accurate description of these collisions. Here we present our ongoing work to implement the photon-photon collisions in the Pythia 8 event generator. First we introduce photon PDFs in general and then discuss in more detail one particular set we have used in our studies. Then we will discuss how the parton-shower algorithm in Pythia 8 is modified in case of photon beams and how the beam remnants are constructed. Finally a brief outlook on future developments is given.
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- Koskimies-Virta, E, et al.
(author)
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Hospital Care and Surgical Treatment of Children With Congenital Upper Limb Defects
- 2020
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In: Scandinavian journal of surgery : SJS : official organ for the Finnish Surgical Society and the Scandinavian Surgical Society. - : SAGE Publications. - 1799-7267. ; 109:3, s. 244-249
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Journal article (peer-reviewed)abstract
- To evaluate hospital care of children with congenital upper limb defects. Materials and Methods: Three hundred and sixty-two children with an upper limb defect, born 1993–2005, and alive after birth admission were identified in the Finnish Register of Congenital Malformations. The data on hospital care, with focus on operative treatment, were collected from the National Hospital Discharge Register, until 31 December 2009. Mean follow-up was 10.2 years (range: 4–17 years). The results were compared with data on the whole children population (1.1 million) in Finland. Results: Most children (321, 87%) with upper limb defects had hospital admissions: on average, one admission/year (range: 0–36), and they were treated in hospital 5 days/year (range: 0–150), which is 11-fold compared with an average child in Finland. Four surgical procedures/child were done (range: 0–45), including one hand surgical procedure. The most common procedures were orthopedic (513); gastrointestinal (263); ear, nose, and throat (143); dental (118); thoracic (48); and urologic (44). Of the 513 orthopedic procedures, 326 were directed to upper limbs, 107 to the lower limbs, and 10 to the spine. Median operation age was 2 years 7 months. Altogether, 60% of hospital admissions were non-surgical. Leading causes of non-operative hospital admissions were congenital anomalies (32%), gastroenterological problems (20%), respiratory tract conditions (13%), neurological problems (7%), perinatal conditions (5%), and infectious diseases (5%). Conclusion: Treatment of children with upper limb defects is teamwork between pediatric and surgical subspecialties. Burden of hospital care is 11-fold as compared with an average child.
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| 15. |
- Liu, Xueping, et al.
(author)
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Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
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Journal article (peer-reviewed)abstract
- The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P=3.96×10-14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality.
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- Raitio, A, et al.
(author)
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Congenital abdominal wall defects and cryptorchidism: a population-based study
- 2021
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In: Pediatric surgery international. - : Springer Science and Business Media LLC. - 1437-9813 .- 0179-0358. ; 37:7, s. 837-841
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Journal article (peer-reviewed)abstract
- PurposeSeveral studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD.MethodsAll male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes.ResultsWe identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele.ConclusionsCryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended.
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- Raitio, A, et al.
(author)
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Gastroschisis in Finland 1993 to 2014-Increasing Prevalence, High Rates of Abortion, and Survival: A Population-Based Study
- 2020
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In: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. - : Georg Thieme Verlag KG. - 1439-359X. ; 30:066, s. 536-540
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Journal article (peer-reviewed)abstract
- 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.
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| 23. |
- Raitio, A, et al.
(author)
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High incidence of inguinal hernias among patients with congenital abdominal wall defects: a population-based case-control study
- 2021
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In: European journal of pediatrics. - : Springer Science and Business Media LLC. - 1432-1076 .- 0340-6199. ; 180:8, s. 2693-2698
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Journal article (peer-reviewed)abstract
- The aim of this nationwide population-based case–control study was to assess the incidence of inguinal hernia (IH) among patients with congenital abdominal wall defects. All infants born with congenital abdominal wall defects between Jan 1, 1998, and Dec 31, 2014, were identified in the Finnish Register of Congenital Malformations. Six controls matched for gestational age, sex, and year of birth were selected for each case in the Medical Birth Register. The Finnish Hospital Discharge Register was searched for relevant diagnosis codes for IH, and hernia incidence was compared between cases and controls. We identified 178 infants with gastroschisis and 150 with omphalocele and selected randomly 1968 matched, healthy controls for comparison. Incidence of IH was significantly higher in gastroschisis girls than in matched controls, relative risk (RR) 7.20 (95% confidence interval [CI] 2.25–23.07). In boys with gastroschisis, no statistically significant difference was observed, RR 1.60 (95% CI 0.75–3.38). Omphalocele was associated with higher risk of IH compared to matched controls, RR 6.46 (95% CI 3.90–10.71), and the risk was equally elevated in male and female patients.Conclusion: Risk of IH is significantly higher among patients with congenital abdominal wall defects than in healthy controls supporting hypothesis that elevated intra-abdominal pressure could prevent natural closure of processus vaginalis. Parents should be informed of this elevated hernia risk to avoid delays in seeking care. We also recommend careful follow-up during the first months of life as most of these hernias are diagnosed early in life.What is Known:• Inguinal hernia is one of the most common disorders encountered by a pediatric surgeon.• Prematurity increases the risk of inguinal hernia.What is New:• Children with congenital abdominal wall defects have a significantly higher risk of inguinal hernia than general population.• Families should be informed of this elevated hernia risk to avoid delays in seeking care.
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| 26. |
- Raitio, A, et al.
(author)
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Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study
- 2021
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In: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. - : Georg Thieme Verlag KG. - 1439-359X. ; 31:022, s. 172-176
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Journal article (peer-reviewed)abstract
- Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies.Materials and Methods A population-based nationwide register study. All cases with omphalocele 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 perinatal and infant mortality and prevalence were calculated.Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively.Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.
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| 27. |
- Syvanen, J, et al.
(author)
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Hospital admissions and surgical treatment of children with lower-limb deficiency in Finland
- 2019
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In: Scandinavian journal of surgery : SJS : official organ for the Finnish Surgical Society and the Scandinavian Surgical Society. - : SAGE Publications. - 1799-7267. ; 108:4, s. 352-360
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Journal article (peer-reviewed)abstract
- There are no population-based studies about hospital admissions and need for surgical treatment of congenital lower-limb deficiencies. The aim is to assess the impact children with lower-limb deficiencies pose to national hospital level health-care system.Materials and Methods:A population-based study was conducted using the national Register of Congenital Malformations and Care Register for Health Care. All 185 live births with lower-limb deficiency (1993–2008) were included. Data on hospital care were collected until 31 December 2009 and compared to data on the whole pediatric population (0.9 million) live born in 1993−2008.Results:The whole pediatric population had annually on average 0.10 hospital admissions and the mean length of in-patient care of 0.3 days per child. The respective figures were 1.5 and 5.6 in terminal lower-limb amputations (n = 7), 1.1 and 3.9 in long-bone deficiencies (n = 53), 0.6 and 1.9 in foot deficiencies (n = 26) and 0.4 and 2.6 in toe deficiencies (n = 101). Orthopedic surgery was performed in 72% (5/7) of patients with terminal amputations, in 62% (33/53) of patients with long bone, in 58% (14/24) of patients with foot and in 25% (25/101) of patients in toe deficiencies. Half (54%) of all procedures were orthopedic operations.Conclusion:In congenital lower-limb deficiencies the need of hospital care and the number of orthopedic procedures is multiple-fold compared to whole pediatric population. The burden to the patient and to the families is markedly increased, especially in children with terminal amputations and long-bone deficiencies of lower limbs.
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- van Es, Michael A, et al.
(author)
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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
- 2011
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In: Annals of Neurology. - : Wiley-Blackwell. - 0364-5134 .- 1531-8249. ; 70:6, s. 964-973
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Journal article (peer-reviewed)abstract
- OBJECTIVE: Several studies have suggested an increased frequency of variants in the gene encoding angiogenin (ANG) in patients with amyotrophic lateral sclerosis (ALS). Interestingly, a few ALS patients carrying ANG variants also showed signs of Parkinson disease (PD). Furthermore, relatives of ALS patients have an increased risk to develop PD, and the prevalence of concomitant motor neuron disease in PD is higher than expected based on chance occurrence. We therefore investigated whether ANG variants could predispose to both ALS and PD.METHODS: We reviewed all previous studies on ANG in ALS and performed sequence experiments on additional samples, which allowed us to analyze data from 6,471 ALS patients and 7,668 controls from 15 centers (13 from Europe and 2 from the USA). We sequenced DNA samples from 3,146 PD patients from 6 centers (5 from Europe and 1 from the USA). Statistical analysis was performed using the variable threshold test, and the Mantel-Haenszel procedure was used to estimate odds ratios.RESULTS: Analysis of sequence data from 17,258 individuals demonstrated a significantly higher frequency of ANG variants in both ALS and PD patients compared to control subjects (p = 9.3 × 10(-6) for ALS and p = 4.3 × 10(-5) for PD). The odds ratio for any ANG variant in patients versus controls was 9.2 for ALS and 6.7 for PD.INTERPRETATION: The data from this multicenter study demonstrate that there is a strong association between PD, ALS, and ANG variants. ANG is a genetic link between ALS and PD.
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