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Jokela M.,University of Helsinki | Rotkirch A.,Vaestoliitto | Rickard I.J.,University of Sheffield | Pettay J.,University of Turku | Lummaa V.,University of Sheffield
Behavioral Ecology | Year: 2010

Evolutionary theory predicts that males seek more sexual partners than females because of their higher fitness benefits from such a reproductive strategy. Accordingly, variance in numbers of partners and offspring is expected to be greater and association between mating and reproductive success to be stronger in males. Studies testing key predictions of this hypothesis in humans are lacking. Using data of 3700 men and 4010 women living in contemporary United States, we examined sex differences in the variance of number of spouses and offspring and in the association between spouse number and number of offspring. The results suggested a stronger selective advantage of serial monogamy in men than in women. Variance in spouse and offspring number was, respectively, 5% and 10% higher in men. In addition, the association between mating and reproductive success was stronger in men, so that men with 3 or more consecutive spouses had 19% more children than men with only spouse, whereas spouse number beyond the first partner was not associated with number of children in women. When the sample was stratified by ethnic group, the sex differences were stronger among Black and Hispanic participants than among White participants. © 2010 The Author.

Avela K.,Vaestoliitto | Valanne L.,University of Helsinki | Helenius I.,University of Turku | Makitie O.,University of Helsinki
American Journal of Medical Genetics, Part A | Year: 2011

Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc.

Siggberg L.,University of Helsinki | Sirpa A.-M.,Rinnekoti Foundation Rehabilitation Home for Children | Tarja L.,University of Helsinki | Kristiina A.,Vaestoliitto | And 11 more authors.
BMC Medical Genetics | Year: 2012

Background: Diagnostic analysis of patients with developmental disorders has improved over recent years largely due to the use of microarray technology. Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however.Methods and Results: Using the Genome-Wide Human SNP array 6.0, we analyzed 35 patients with a developmental disorder of unknown cause and normal array comparative genomic hybridization (array CGH) results, in order to characterize previously undefined genomic aberrations. We detected no seemingly pathogenic copy number aberrations. Most of the vast amount of data produced by the array was polymorphic and non-informative. Filtering of this data, based on copy number variant (CNV) population frequencies as well as phenotypically relevant genes, enabled pinpointing regions of allelic homozygosity that included candidate genes correlating to the phenotypic features in four patients, but results could not be confirmed.Conclusions: In this study, the use of an ultra high-resolution SNP array did not contribute to further diagnose patients with developmental disorders of unknown cause. The statistical power of these results is limited by the small size of the patient cohort, and interpretation of these negative results can only be applied to the patients studied here. We present the results of our study and the recurrence of clustered allelic homozygosity present in this material, as detected by the SNP 6.0 array. © 2012 Siggberg et al.; licensee BioMed Central Ltd.

Avela K.,University of Helsinki | Toiviainen-Salo S.,The Hospital for Children and Adolescents | Karttunen-Lewandowski P.,Mikkeli Central Hospital | Kauria L.,Mikkeli Central Hospital | And 2 more authors.
European Journal of Medical Genetics | Year: 2012

We describe two Finnish brothers with frontotemporal pachygyria, intellectual deficiency and mild dysmorphisms. Previously, only a few cases of similar frontotemporal pachygyria have been reported. This report provides further evidence about frontotemporal pachygyria being a distinct genetic entity inherited as an autosomal recessive trait. © 2012 Elsevier Masson SAS.

Richardson R.J.,University of Manchester | Richardson R.J.,University of Bristol | Hammond N.L.,University of Manchester | Coulombe P.A.,Johns Hopkins University | And 8 more authors.
Journal of Clinical Investigation | Year: 2014

Appropriate development of stratified, squamous, keratinizing epithelia, such as the epidermis and oral epithelia, generates an outer protective permeability barrier that prevents water loss, entry of toxins, and microbial invasion. During embryogenesis, the immature ectoderm initially consists of a single layer of undifferentiated, cuboidal epithelial cells that stratifies to produce an outer layer of flattened periderm cells of unknown function. Here, we determined that periderm cells form in a distinct pattern early in embryogenesis, exhibit highly polarized expression of adhesion complexes, and are shed from the outer surface of the embryo late in development. Mice carrying loss-of-function mutations in the genes encoding IFN regulatory factor 6 (IRF6), IκB kinase-α (IKKα), and stratifin (SFN) exhibit abnormal epidermal development, and we determined that mutant animals exhibit dysfunctional periderm formation, resulting in abnormal intracellular adhesions. Furthermore, tissue from a fetus with cocoon syndrome, a lethal disorder that results from a nonsense mutation in IKKA, revealed an absence of periderm. Together, these data indicate that periderm plays a transient but fundamental role during embryogenesis by acting as a protective barrier that prevents pathological adhesion between immature, adhesion-competent epithelia. Furthermore, this study suggests that failure of periderm formation underlies a series of devastating birth defects, including popliteal pterygium syndrome, cocoon syndrome, and Bartsocas-Papas syndrome.

Avela K.,Vaestoliitto | Aktan-Collan K.,Vaestoliitto | Aktan-Collan K.,University of Helsinki | Horelli-Kuitunen N.,Medix Laboratories Ltd. | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009]. Here, we report an additional patient with a microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 gene, that was inserted into the long arm of chromosome 4. The patient had psychomotor and growth retardation, dysmorphic features, small ventricular septal defect (VSD), and immunoglobulin abnormality. Only subtle abnormalities in brain MRI scan were seen. Interestingly, the facial features of our patient closely resemble those previously reported in 17p trisomy patients. © 2011 Wiley-Liss, Inc. Copyright © 2011 Wiley-Liss, Inc..

Auranen M.,University of Helsinki | Ylikallio E.,University of Helsinki | Toppila J.,University of Helsinki | Somer M.,Vaestoliitto | And 2 more authors.
Neurogenetics | Year: 2013

We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. The mutation explains up to 14 % of CMT2 in Finland, where most patients with axonal neuropathy have remained without molecular diagnosis. Only three families out of 28 were found to carry putative disease mutations in the MFN2 gene encoding mitofusin 2. In addition, the MFN2 variant p.V705I was commonly found in our patients, but we provide evidence that this previously described mutation is a common polymorphism and not pathogenic. GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype. Besides distal leg muscle weakness, most patients showed mild proximal weakness, often with asymmetry and pes cavus. Our findings broaden the understanding of GDAP1 mutations in CMT2 phenotypes and provide support for the use of whole-exome sequencing in CMT gene diagnostics. © 2013 Springer-Verlag Berlin Heidelberg.

Lahtela J.,University of Helsinki | Nousiainen H.O.,University of Helsinki | Stefanovic V.,University of Helsinki | Tallila J.,University of Helsinki | And 7 more authors.
New England Journal of Medicine | Year: 2010

We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. We identified the molecular defect that causes this syndrome, using a combined strategy of gene-expression arrays, candidate-gene analysis, clinical studies, and genealogic investigations. A point mutation in two affected fetuses led to the loss of the conserved helix-loop-helix ubiquitous kinase (CHUK), also known as IκB kinase α. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. (Funded by the Academy of Finland and others.) Copyright © 2010 Massachusetts Medical Society.

Char A.,University of Tampere | Char A.,University of Helsinki | Saavala M.,Vaestoliitto | Saavala M.,University of Helsinki | Kulmala T.,University of Tampere
BMC Public Health | Year: 2011

Background: We investigated the accessibility of reproductive health information and contraceptives in a relatively less developed area of rural central India and assessed the risks facing young unmarried men. Methods. This cross-sectional study used both qualitative and quantitative methods. Participants included 38 unmarried rural men in four focus-group discussions and a representative sample of 316 similarly profiled men, aged 17-22 years, in a survey. Information was collected on the men's socioeconomic characteristics; awareness, knowledge, and perceptions of family planning; attitudes toward future contraceptive use; intra-family communication; knowledge about STIs/HIV/AIDS; and access and use of condoms. Content analysis for qualitative information and descriptive analysis for survey data were used to draw conclusions. Results: Young unmarried rural Indian men's sexual and reproductive health (SRH) knowledge is limited, although the majority is familiar with condoms (99%). The young men identified electronic mass media (67%) as the prime source of reproductive health information, yet they lacked detailed knowledge of various contraceptives and felt ignored by health providers, who, they felt, would be capable of providing SRH information through interpersonal communication. Young men are more concerned about avoiding infections and securing sexual pleasure and less concerned about avoiding potential pregnancies. For example, 68% of the young men were aware of condoms and their HIV/AIDS preventive role, but only about two-fifths mentioned condom use to prevent unwanted pregnancies. Although most young men (96%) knew where to access a condom, they felt uncomfortable or embarrassed doing so in their own villages or close by because of socio-cultural norms that prevented them from using contraceptives. Very few respondents (4%) disclosed using condoms themselves, but 59% said they knew someone from their peer group who had used them. Conclusions: Young unmarried men in rural India are underserved with regard to SRH information and services, because they are not recognized as key targets under the public health system, and they receive their limited knowledge and information mainly from the mass media; this situation could be greatly improved by public health service providers. It is important that programmers involve young men with effective communication strategies to enable them to act responsibly with regard to their own sexual health needs. © 2011 Char et al; licensee BioMed Central Ltd.

PubMed | Vaestoliitto
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2011

Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.

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