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Mahjneh I.,University of Oulu | Mahjneh I.,Pietarsaari Central Hospital | Jaiswal J.,Center for Genetic Medicine Research | Lamminen A.,University of Helsinki | And 4 more authors.
Neuromuscular Disorders | Year: 2010

We have been following clinically and with muscle MRI for the past 3-decades a Finnish family with two patients with distal muscular dystrophy. Previously we demonstrated the cellular defect in these patients to be defective membrane repair and more recently have identified the causative gene to be anoctamin 5 (ANO5). The disorder seen in these patients is characterized by onset in the third decade. First symptoms were burning sensation on the calves and later on calf tightness during running. Muscle weakness and wasting were asymmetric and early involving the calf muscles, later spread to the thigh muscles. Biceps brachi was later manifestation. Clinical course was slow. CK levels were high. Muscle biopsy showed dystrophic pattern and multifocal disruption of the sarcolemmal membrane but no subsarcolemmal vesicle accumulation nor active inflammation. We conclude that the disease seen in our cases is a new separate clinical, genetic and histopathologic entity to include within the classification of autosomal recessive distal muscular dystrophies. © 2010 Elsevier B.V.


Hoischen A.,Radboud University Nijmegen | Van Bon B.W.M.,Radboud University Nijmegen | Rodriguez-Santiago B.,Radboud University Nijmegen | Rodriguez-Santiago B.,University Pompeu Fabra | And 21 more authors.
Nature Genetics | Year: 2011

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. © 2011 Nature America, Inc. All rights reserved.


Niinimaki M.,University of Oulu | Suikkari A.-M.,Family Federation of Finland | Makinen S.,Family Federation of Finland | Soderstrom-Anttila V.,Family Federation of Finland | Martikainen H.,University of Oulu
Human Reproduction | Year: 2013

Study Question Is an elective single-embryo transfer (eSET) policy feasible for women aged 40 or older? Summary Answer For older women (aged 40-44 years) with a good prognosis, an eSET policy can be applied with acceptable cumulative clinical pregnancy rates and live birth rates. What is Known AlreadyVarious studies have shown the effectiveness of eSET in women aged <35 years with high cumulative pregnancy rates and low rates of multiple births. Study Design , Size, DurationThis retrospective cohort study included 628 women treated between 2000 and 2009.PARTICIPANTS, SETTING, Method SWomen aged 40-44 years underwent a fresh cycle of IVF or ICSI treatment with eSET (n = 264) or double-embryo transfer (DET) (n = 364). In the subsequent frozen-thawed embryo transfer cycles, SET/DET was performed in both groups according to the number of embryos available and the opinion of the couple. The study was performed at the Family Federation of Finland Helsinki Fertility Clinic. Main Results and the Role of Chance In the fresh cycles, the clinical pregnancy rates were 23.5 and 19.5% in the eSET and DET groups, respectively, and live birth rates were 13.6 and 11.0%, respectively. In the fresh cycles with eSET, there were no twin pregnancies, but in the DET group, there were three sets of twins (7.5%). The cumulative clinical pregnancy rates per oocyte retrieval were 37.1 and 24.2% in the eSET and DET groups, respectively (P < 0.001), and the cumulative live birth rates were 22.7 and 13.2%, respectively (P = 0.002). Cumulative twin rates were 6.7% (n = 4) in the eSET group and 8.3% (n = 4) in the DET group (P = 0.726). All of the twin pregnancies in the eSET group resulted from frozen and thawed DET embryo transfer cycles. Limitations The characteristics of the two patients groups are not comparable because the suitability of eSET was individually assessed by a clinician based on both clinical prognostic factors and the outcome of IVF or ICSI, i.e. the number and quality of embryos. Wider Implications of the FindingsThis study may be generalized to IVF units having experience in eSET and cryopreservation. Study Funding/Competing Interest (S)This study received no funding and there are no conflicts of interests to be declared. © 2012 The Author.


Makinen S.,Family Federation of Finland | Soderstrom-Anttila V.,Family Federation of Finland | Vainio J.,University of Helsinki | Suikkari A.-M.,Family Federation of Finland | Tuuri T.,Family Federation of Finland
Human Reproduction | Year: 2013

Study Question: Does the length of time during which embryos are cultured in vitro affect the birthweight of the infants? Summary Answer: The duration of the embryo culture period is a significant factor in determining the birthweight of the infants. What is Already Knownivf: children show adverse perinatal outcome when compared with the general population and increased incidence of preterm birth and low birthweight is commonly observed. Study Design , Size, Duration A retrospective cross-sectional cohort study including 1079 infants born after treatment at the Family Federation of Finland Fertility Clinic in Helsinki, between 2000 and 2010. Participants, Setting, Methodsall: singleton IVF children were included. The gestation-and gender-adjusted birthweights of the babies were analyzed according to mother's age, BMI, and parity, type of treatment (IVF or ICSI), main cause of infertility and embryo culture period. Two outcomes were investigated: the birthweight and the proportion of small and large for gestational age (SGA and LGA) infants. Multiple linear regression analysis was performed to show the significance of each individual factor on determining the birthweight of the babies born. Main Results and the Role of Chance: In the study group as a whole, the distribution of the SGA and LGA babies showed no deviation from the growth charts of the general population. However, when the birthweight of the children was analyzed according to the length of embryo culture from Day 2 to Days 5-6, an increase in the proportion of LGA babies was found (D2 9.4%, D3 11.5%, D5-6 18.8%; D2 n = 871, D3 n = 139, D5-6 n = 69). Multiple linear regression analysis showed that BMI (P < 0.001) and parity (P < 0.001) of the mother, as well as the embryo culture period (P = 0.007) had a significant effect on the birthweight. The value of the adjusted R2 was 0.437. Limitations, Reasons For Caution Small number of D5-6 infants and a lack of pregnancy-associated factors contributing to birthweight. Wider Implications of the Finding: This study warrants larger studies to analyze the birthweight of the IVF children, particularly after blastocyst culture. Study Funding/Competing Interes: TThe study was funded by the Family Federation of Finland, Fertility Clinic Helsinki. No competing interests. © 2013 The Author.


Anttila L.,Family Federation of Finland | Bachmann G.,University of New Brunswick | Hernadi L.,Markhot F Heves County Hospital | Kunz M.,Bayer AG | And 2 more authors.
European Journal of Obstetrics Gynecology and Reproductive Biology | Year: 2011

Objective: To determine the contraceptive efficacy of a low-dose combined oral contraceptive containing ethinyloestradiol (EE) 20 μg/drospirenone (drsp) 3 mg administered for 24 days followed by a four-day hormone-free interval (24/4 regimen), by pooling data from four clinical trials. Study design: Data on the occurrence of pregnancy during treatment in four open-label trials that enrolled healthy female volunteers aged 17-36 years, who received EE 20 μg/drsp 3 mg in a 24/4 regimen for 7 or 13 cycles, were pooled. Results: Sixteen pregnancies occurred among 2386 women during 729,537 days (26,055 cycles) of treatment exposure, resulting in a Pearl Index (PI) of 0.80 (upper two-sided 95% confidence interval (CI) limit of 1.30). Of these pregnancies, seven were defined as method failures, resulting in an adjusted PI of 0.41 (upper two-sided 95% CI limit of 0.85), based on 616,607 days (22,022 cycles) of treatment. The Kaplan-Meier estimate for the one-year cumulative probability of contraceptive protection was 99.21%. Conclusions: The EE 20 μg/drsp 3 mg combined oral contraceptive administered in a 24/4 regimen has acceptable contraceptive efficacy. © 2011 Elsevier Ireland Ltd.


Siggberg L.,University of Helsinki | Peippo M.,Family Federation of Finland | Sipponen M.,Family Federation of Finland | Miikkulainen T.,Family Federation of Finland | And 4 more authors.
Orphanet Journal of Rare Diseases | Year: 2011

Background: Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309). Methods and Results. We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K). The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085). The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions: This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling. © 2011 Siggberg et al; licensee BioMed Central Ltd.


Hagman A.,Gothenburg University | Loft A.,Copenhagen University | Wennerholm U.-B.,Gothenburg University | Pinborg A.,Copenhagen University | And 6 more authors.
Human Reproduction | Year: 2013

STUDY QUESTION What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)? SUMMARY ANSWER Pregnancies among women with TS carry a substantial risk, particularly for hypertensive disorders. Potentially life-threatening complications occurred in 3.3% of pregnancies. The neonatal outcomes were generally reassuring, with similar rates of preterm birth and low birthweight (LBW) as after conventional IVF and better than previously reported in deliveries after OD in women with TS. WHAT IS KNOWN ALREADY OD pregnancies in women with TS are known to be high-risk pregnancies. STUDY DESIGN, SIZE, DURATION This retrospective cohort study included 106 women with TS who delivered after OD (n = 122 deliveries, n = 131 newborns) in three Nordic countries (Finland, Denmark, Sweden) between 1992 and 2011. PARTICIPANTS, SETTING AND METHODSWomen with TS who delivered after OD in three Nordic countries were identified (n = 110). Four women declined to participate or were lost to follow-up, thus 106 women were included in the study. The medical data from fertility clinics, antenatal clinics and the hospitals where the women had been treated and/or delivered were scrutinized. MAIN RESULTS AND THE ROLE OF CHANCE In this cohort, the karyotype was 45,X in 44% of the women with TS. Ten women (9.4%) had a known cardiac defect before pregnancy. Single embryo transfer was performed in 70.3% of the cases and the multiple birth rate was 7.4%. In total, 35.0% of the pregnancies were associated with a hypertensive disorder including pre-eclampsia in 20.5%. Potentially life-threatening complications occurred in four pregnancies (3.3%), including one woman with aortic dissection, one with mild regurgitation of the tricuspid and mitral valve, one with a mechanical heart valve who developed HELLP syndrome (haemolysis, elevated liver enzymes, low platelets) and one who underwent a post-partum hysterectomy due to severe haemorrhaging. Neonatal outcomes were reassuring, with a preterm birth rate of 8.0% and LBW rate of 8.8% in singletons. Major birth defects were found in 3.8% of the children. The perinatal mortality was 2.3% (3/131), including a set of extremely preterm twins. LIMITATIONS, REASONS FOR CAUTION Although this study was performed over a period of almost 20 years in three different countries, with a low drop-out rate and little missing data, much larger series are needed to assess rare events. This study also lacks an appropriate control group. WIDER IMPLICATIONS OF THE FINDINGS This study suggests that cardiovascular evaluation before and during pregnancy may contribute to favourable obstetric outcomes in many cases. Maternal outcomes were in agreement with the literature while neonatal outcomes were generally better than previously reported. The outcomes were consistent across the three countries, supporting generalizability to similar populations. STUDY FUNDING/COMPETING INTEREST(S) No conflict of interest was reported. The study was supported by grants from the Gothenburg Medical Society, the Medical Care Executive Board of the Region Västra Götaland, grants from the ALF agreement at the Sahlgrenska University Hospital, the Hjalmar Svensson foundation, NFOG Nordic Fund, the Finnish Society of Paediatric and Adolescent Gynecology and Liv och hälsa Foundation in Finland. The Nordic Expert group's research work was unconditionally supported by MSD Finland, Norway and Denmark. © 2013 The Author. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.


Rana M.M.,University of Tampere | Huhtala H.,University of Tampere | Apter D.,Family Federation of Finland | Eriksson T.,University of Tampere | And 5 more authors.
International Journal of Cancer | Year: 2013

Phase III clinical trials of human papilloma virus (HPV) vaccination have shown ≥95% efficacy against HPV16/18 associated cervical intraepithelial neoplasia (CIN) Grade 2/3. Long-term surveillance is, however, needed to determine the overall vaccine efficacy (VE) against CIN3 and invasive cervical carcinoma (ICC). During population-based recruitment between September 2002 and March 2003, 1,749 16- to 17-year old Finns participated in a multi-national randomized Phase III HPV6/11/16/18 vaccine (FUTURE II) trial for the determination of VE against HPV16/18 positive CIN2/3. The passive follow-up started at the country-wide, population-based Finnish Cancer Registry (FCR) six months after the active follow-up and voluntary cross-vaccination in April 2007. A cluster randomized, population-based reference cohort of 15,744 unvaccinated, originally 18-19 year old Finns was established in two phases in 2003 and 2005 after the FUTURE II recruitment. We linked these cohorts with the FCR in 2007-2011 (HPV vaccine and placebo cohorts) and 2006-2010 and 2008-2012 (unvaccinated reference cohorts 1 and 2) to compare their incidences of CIN3 and ICC. The four years passive follow-up resulted in 3,464, 3,444 and 62,876 person years for the HPV6/11/16/18, original placebo and reference cohorts, after excluding cases discovered during the clinical follow-up and individuals not at risk. The numbers of CIN3 and ICC cases identified were 0 and 0, 3 and 0, 59 and 3 for the HPV6/11/16/18, placebo and the unvaccinated reference cohorts. The corresponding CIN3 incidence rates were 0/100,000 (95% confidence interval 0.0-106.5), 87.1/100,000 (95% CI 17.9-254.5) and 93.8/100,000 (95% CI 71.4-121), respectively. Long-term surveillance up to 8 years (and longer) post vaccination of the HPV6/11/16/18 vaccine and placebo cohorts, and the unvaccinated reference cohort (not exposed to interventions) for the most stringent efficacy end-points by passive cancer registry-based follow-up is feasible. Copyright © 2012 UICC.


PubMed | Eduardo Mondlane University, Family Federation of Finland, Finnish National Institute for Health and Welfare and Duke University
Type: | Journal: BMC pregnancy and childbirth | Year: 2015

The Caesarean section (C-section) rate is used as an indicator for availability and utilization of life-saving obstetric services. The purpose of the present study was to explore changes in C-section rates between 1995 and 2011 by area, place of delivery and maternal socioeconomic factors in Mozambique.Cross-sectional data from the Demographic and Health Surveys conducted in Mozambique in 1997, 2003 and 2011 were used, including women having a live birth within 3 years prior to the survey. Descriptive statistics and logistic regressions were used to identify factors associated with having a C-section.The C-section rate decreased slightly from 2.5% in 1995-1997 to 2.1% in 2001-2003 and then increased to 4.7% in 2009-2011. In 2009-2011, C-section rates ranged in urban areas from 4.6% in the northern region to 12.2% in the southern region and in rural areas from 1.6% in the northern region to 3.9% in the southern region. 12.3% of the richest women had had a C-section, compared to 1.7% of the poorest women. C-sections were the most common at public hospitals (12.6% in 2009-2011), but C-sections at health centers increased from the second to the third period. The likelihood of having a C-section was associated with living in urban areas and in the southern region, having a formal education and living in a rich household, even adjusting for age and parity (and study periods). The strongest relationship was for the richest household wealth quintile [OR (95% CI): 9.8 (6.3-15.3)]. The highest rate (20.6%) was found among the richest women giving birth at public hospitals in the southern region in 2009-2011.In Mozambique, underuse of C-section was likely among the poor and in rural areas, but overuse in the most advantaged groups seemed to be emerging.


HELSINKI--(BUSINESS WIRE)--The employees of Finnish telecommunications company DNA who become grandparents are entitled to one week’s paid grandparental leave. The aim of the leave is to promote family-friendliness at the workplace even at a later stage of the career. DNA participates in the Family-Friendly Workplace pilot project of Väestöliitto, the Family Federation of Finland. The aim of the project is to promote family-friendly attitudes and practices at workplaces. “The possibility of balancing working life with personal life is one of the key factors for the well-being of our employees. We participate in the project, because we want to be among Finland’s best places to work. We believe that we are the first company in Finland to offer paid grandparental leave to the employees,” says Marko Rissanen, Senior Vice President of Human Resources at DNA. The paid grandparental leave is available to grandparents of children born after 1 January 2017. Employees who have become grandparents through adoption are also entitled to the leave. “The grandparental leave should be used for spending time with the family within a year from the birth of a grandchild. The only support network many new mothers and fathers have may be far away, and it is important that grandparents can be present when they are needed.” “DNA is already a very family-friendly working place, as employees can freely select where they work without having to ask for a separate permission from their managers. However, the grandparental leave will be available as a new benefit in the entire organisation,” Rissanen concludes. More information about benefits for families in Finland: DNA Plc is a Finnish telecommunications group providing high-quality voice, data and TV services for communication, entertainment and working. DNA is Finland’s largest cable operator and the leading pay TV provider in both cable and terrestrial networks. For DNA, the key area for growth in corporate business is the new way of working. In 2016, DNA recorded net sales of EUR 859 million and an operating profit of EUR 91 million. DNA has more than 3.8 million subscriptions in its fixed and mobile communications networks. DNA shares are listed on Nasdaq Helsinki Ltd. For further information, visit www.dna.fi.

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