Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene
We report the first two cases of DNAJC30-linked autosomal recessive LHON in a young male and a female originating from Estonia. The patients presented severe loss of central vision and clinical features indistinguishable from mitochondrial LHON. The whole exome sequencing carried out in the male patient and the next-generation sequencing panel in the young female patient identified the same homozygous missense variant in the DNAJC30 gene. Our cases further reinforce the pathogenicity of c.152A > G, p.(Tyr51Cys) DNAJC30 variant causing autosomal recessive LHON. According to the gnomAD database, the allele frequency of th...
Source: European Journal of Medical Genetics - August 14, 2023 Category: Genetics & Stem Cells Authors: L Mauring S Puusepp M Parik E Roomets R Teek T Reimand S Pajusalu K Kaljurand K Õunap Source Type: research
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene
We report the first two cases of DNAJC30-linked autosomal recessive LHON in a young male and a female originating from Estonia. The patients presented severe loss of central vision and clinical features indistinguishable from mitochondrial LHON. The whole exome sequencing carried out in the male patient and the next-generation sequencing panel in the young female patient identified the same homozygous missense variant in the DNAJC30 gene. Our cases further reinforce the pathogenicity of c.152A > G, p.(Tyr51Cys) DNAJC30 variant causing autosomal recessive LHON. According to the gnomAD database, the allele frequency of th...
Source: European Journal of Medical Genetics - August 14, 2023 Category: Genetics & Stem Cells Authors: L Mauring S Puusepp M Parik E Roomets R Teek T Reimand S Pajusalu K Kaljurand K Õunap Source Type: research
The role of economic freedom in achieving the environmental sustainability for the highest economic freedom countries: testing the environmental Kuznets curve hypothesis
Environ Sci Pollut Res Int. 2023 Aug 12. doi: 10.1007/s11356-023-29120-5. Online ahead of print.ABSTRACTIn the study, the relationship between ecological footprint, economic freedom, renewable energy consumption, and economic growth is analysed under the scope of environmental Kuznets curve (EKC) hypothesis. Here, fifteen countries with the highest economic freedom for the period 1996-2018 are selected to more clearly underline the impact of economic freedom on the environment and examined, i.e., Australia, Canada, Denmark, Estonia, Finland, Germany, Latvia, Lithuania, Luxembourg, Netherlands, Norway, Singapore, South Kore...
Source: Environmental Science and Pollution Research International - August 12, 2023 Category: Environmental Health Authors: Çisem Bektur Source Type: research
The role of economic freedom in achieving the environmental sustainability for the highest economic freedom countries: testing the environmental Kuznets curve hypothesis
Environ Sci Pollut Res Int. 2023 Aug 12. doi: 10.1007/s11356-023-29120-5. Online ahead of print.ABSTRACTIn the study, the relationship between ecological footprint, economic freedom, renewable energy consumption, and economic growth is analysed under the scope of environmental Kuznets curve (EKC) hypothesis. Here, fifteen countries with the highest economic freedom for the period 1996-2018 are selected to more clearly underline the impact of economic freedom on the environment and examined, i.e., Australia, Canada, Denmark, Estonia, Finland, Germany, Latvia, Lithuania, Luxembourg, Netherlands, Norway, Singapore, South Kore...
Source: Environmental Science and Pollution Research International - August 12, 2023 Category: Environmental Health Authors: Çisem Bektur Source Type: research
Lifeday coverage of oral anticoagulants and one-year relative survival in patients with atrial fibrillation: a population-based study in Estonia
Routine oral anticoagulation (OAC) is recommended for almost all high-risk patients with atrial fibrillation, yet registries show that OACs are still underused. Our aim was to study the lifeday coverage (LDC) ... (Source: BMC Cardiovascular Disorders)
Source: BMC Cardiovascular Disorders - August 11, 2023 Category: Cardiology Authors: Priit Pauklin, Toomas Marandi, Mart Kals, Tiia Ainla, Katrin Martinson, Jaan Eha and Priit Kampus Tags: Research Source Type: research
Cancers, Vol. 15, Pages 3663: The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
Conclusion: The most common genes affected in the diagnostic and EstBB cohorts were MLH1 and PMS2 genes, respectively. The LS diagnosis mean age was 44.8 years for index cases and 36.8 years (p = 0.003) for family members. In the MMR IHC pilot study, 29% had LS. (Source: Cancers)
Source: Cancers - July 18, 2023 Category: Cancer & Oncology Authors: Laura Roht Piret Laidre Mikk Tooming Neeme T õnisson Margit N õukas Miriam Nurm Estonian Biobank Research Team Hanno Roomere Kadri Rekker Kadri Toome Olga Fjodorova Ülle Murumets Ustina Šamarina Sander Pajusalu Anu Aasp õllu Liis Salum äe Kristina Tags: Review Source Type: research
Pilot study: Correlation between nasalance scores and cephalometric parameters in Estonian cleft palate children
CONCLUSION: The results showed differences in cephalometric parameters in the two groups. Still, we continue to collect data and plan to conduct the analysis on larger and more homogenous sample size.PMID:37436176 (Source: Stomatologija)
Source: Stomatologija - July 12, 2023 Category: Dentistry Authors: Lagle Lehes Carina Aria Marika Padrik Priit Kasen õmm Triin Jagom ägi Source Type: research
