BackgroundAs a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impacts on the genetic structure of mitochondrial DNA (mtDNA) in historical Romanian provinces. We studied 714 Romanians from all historical provinces, Wallachia, Dobrudja, Moldavia, and Transylvania, by analyzing the mtDNA control region and coding markers to encompass the complete landscape of mtDNA haplogroups.ResultsWe observed a homogenous distribution of the majority of haplogroups among the Romanian provinces and a clear association with the European populations. A principal component analysis and multidimensional scaling analysis supported the genetic similarity of the Wallachia, Moldavia, and Dobrudja groups with the Balkans, while the Transylvania population was closely related to Central European groups. These findings could be explained by the topology of the Romanian territory, where the Carpathian Arch played an important role in migration patterns. Signals of Asian maternal lineages were observed in all Romanian historical provinces, indicating gene flow along the migration routes through East Asia and Europe.ConclusionsOur current findings based on the mtDNA analysis of populations in historical provinces of Romania suggest similarity between populations in Transylvania and Central Europe, supported both by the observed clines in haplogroup frequencies for several European and Asian maternal lineages and MDS analyses.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-017-0487-5) contains supplementary material, which is available to authorized users.

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Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.

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The aim of the present study is to explore the use of salivary 8-hydroxideoxyguanosine (8-OHdG) and Interleukin-1 (IL-1) gene polymorphism in the diagnosis of the patients with aggressive periodontitis. The correlation between salivary 8-OHdG level and clinical parameters was analyzed, at the same time as the use of 8-OHdG level and IL-1gene polymorphism in patients with aggressive periodontitis. Eighteen patients suffering from aggressive periodontitis and 18 healthy subjects without any sign of periodontitis were enrolled into the study after clinical examination. The analysis of genetic polymorphism of IL-1 gene was carried out from oral swabs by using the GenoType IL-1 test; the 8-OHdG biomarker was quantified from saliva samples by using an ELISA competition test. The salivary level of 8-OHdG in the control group was 0.70±0.54 ng/mL and in aggressive periodontitis, 6.93±2.90 ng/mL (p<0.001). A positive genotype consisting of allele 2 (Thymine/Thymine) was found with lower prevalence in healthy subjects-5.56%-when compared to aggressive periodontitis, respectively 72.22 % (p<0.001). Our study demonstrated that the salivary level of the 8-OHdG biomarker and IL-1 gene polymorphism can be used in the evaluation of the oro-dental status at patients with aggressive periodontitis.