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Introduction: Metanephric adenoma (MA) is an uncommon benign tumor accounting for 0.2–0.7% of adult renal epithelial neoplasms. The clinical course is often indolent, but diagnosis should not be delayed since clinical symptoms (hematuria, fever, palpable abdominal mass, and flank pain) may be non-specific and overlap with those of a malign renal neoplasm. We report on 4 cases of AM, for which morphological and mutational analysis were performed. Material and Methods: Immunohistochemical staining was performed on sections cut from paraffin blocks to assess expression of WT1, vimentin, racemase, CK7, CD10 and RCC. Testing for the BRAF gene mutation V600 was carried out using real-time PCR (Cobas® 4800). Results: In all four cases, tumors were visible as well-circumscribed, non encapsulated masses located in the renal cortex and extending towards the medulla. At immunohistochemical examination, tumor cells stained negative for CK7, CD10 and RCC and positive for both WT1 (nuclear, intense) and vimentin (cytoplasmic, intense, and diffuse). Molecular analysis revealed the BRAF gene mutation V600E in three cases and wild-type BRAF in the fourth. Conclusions: BRAF molecular mutation analysis may aid diagnosis in cases with atypical histological features, especially in small incisional biopsies when reassessment of surgical treatment may be considered.

The taxonomy of Merodon dobrogensis Bradescu, 1982 (Diptera: Syrphidae) species subgroup was reviewed. Multiple data sources (morphology, geometric morphometry of wings and surstylus, molecular data, and distributional data) were used to investigate the species subgroup in the manner of integrative taxonomy. Merodon dobrogensis Bradescu, 1982 and M. puniceus Vujić, Radenković, and Pérez-Bañón, 2011 are supported as distinct species belonging to the M. dobrogensis species complex within the M. dobrogensis species subgroup. Additionally, evidence is presented for the description of a new species, M. rojoi Radenković and Vujić new species, with a distribution in mainland Greece, the Greek island Euboea, and the Peloponnese. A short diagnosis is provided for the M. aureus species group, the M. dobrogensis species subgroup, and the newly defined M. dobrogensis species complex, in addition to a description of the new species, with drawings and photographs of adult morphology.

The prevalence of multiple primary tumors has significantly increased last time. The question of choosing the optimal tactics of therapy today not fully resolved. Particular interest is the simultaneous detection of two neoplasms of similar origin in one study biopsy material. This publication presents a case of simultaneous diagnosis of myeloid sarcoma and mantle cell lymphoma in a 65-year-old patient, which required use of two different chemotherapy protocols. This example shows the need to use an extended diagnostic approach at all stages of the therapy, which allows choosing right tactics of therapy and achieving complete remission of two neoplasms.Распространенность первично-множественных опухолей в последнее время значимо выросла, но вопрос выбора оптимальной тактики терапии при данной нозологии по-прежнему остается нерешенным. Особый интерес представляет одномоментное, или симультанное, выявление двух новообразований родственного происхождения в одном и том же очаге или очагах поражения. В данной публикации представлен случай одномоментной диагностики миелоидной саркомы и лимфомы из клеток мантийной зоны у больной 65 лет, потребовавший последовательного применения двух различных подходов и схем химиотерапии. Этот пример демонстрирует необходимость внедрения расширенного диагностического подхода с применением гистологических, иммуногистохимических, цитогенетических, молекулярных методов исследования на всех этапах диагностики и лечения, что позволяет своевременно выбрать правильную тактику терапии и достичь полной ремиссии при длительных сроках наблюдения по двум новообразованиям при первично-множественных опухолях.

Background Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms. Materials In the present study 35 Iranian NPC unrelated patients were enrolled. These patients were first analysed by the Filipin Staining test of cholesterol deposits in cells for NPC diagnostics. Genomic DNA was extracted from the samples of peripheral blood leukocytes in EDTA following the manufacturer's protocol. All exon–intron boundaries and coding exons of the NPC1gene were amplified by polymerase chain reaction (PCR) using appropriate sets of primers. Thereafter, the products of PCR were sequenced and analysed using the NCBI database (https://blast.ncbi.nlm.nih.gov/Blast.cgi). The variants were reviewed by some databases including the Human Gene Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk/ac/index.php) and ClinVar (https://www.ncbi.nlm.nih.gov/clinvar (. Moreover, all the variants were manually classified in terms of the American College of Medical Genetics and Genomics (ACMG) guideline. Results The sequence analysis revealed 20 different variations, 10 of which are new, including one nonsense mutation (c.406C > T); three small deletions, (c.3126delC, c.2920_2923delCCTG, and c.2037delG); and six likely pathogenic missense mutations, (c.542C > A, c.1970G > A, c.1993C > G, c.2821 T > C, c.2872C > G, and c.3632 T > A). Finally, the pathogenicity of these new variants was determined using the ACMG guidelines. Conclusion The present study aimed to facilitate the prenatal diagnosis of NPC patients in the future. In this regard, we identified 10 novel mutations, and verified that the majority of them occurred in six NPC1 exons (5, 8, 9, 13, 19, and 21), that should be considered with a high priority for Iranian patients' cost-effective evaluation.

Peroxisome proliferator-activated receptor γ2 (PPARγ2) is a nuclear hormone receptor of ligand-dependent transcription factor with a key role in adipogenesis and insulin sensitization in diabetes mellitus. In this study, we investigated genetic variants in PPARγ2 promoter, its association with gestational diabetes mellitus (GDM), and its molecular regulation. PPARγ2 promoter and start codon (-2,091 to +82 bp) from 400 pregnancies with GDM and 400 gestational-age matched control pregnancies were sequenced. Association and linkage disequilibrium of the identified polymorphisms with GDM was determined. ChIP-seq, gene silencing, and dual-luciferase reporter assays were performed to confirm transcription factor binding sites and promoter activity of the variants. Transfection experiments were carried out to determine the effects of variants on gene expression and adipogenesis. Among 15 variants identified, 7 known variants were not significantly associated with the risk of GDM (odds ratio: 0.710–1.208, 95% confidence interval: 0.445–0.877 to 1.132–1.664, P > 0.05) while linkage disequilibrium was significant (D’ > 0.7, R2 > 0.9). However, T-A-A-T-G haplotype was not significantly associated with GDM (χ2 = 2.461, P = 0.117). Five rare variants and 3 novel variants (rs948820149, rs1553638909, and rs1553638903) were only found in GDM. Transcription factor glucocorticoid receptor β (GRβ) bound to -807A/C (rs948820149) and knockdown of GRβ suppressed PPARγ2 promoter activity. This mutation significantly down-regulated PPARγ2 expression and alleviated adipogenesis. In conclusion, a novel -807A/C in PPARγ2 promoter was identified in Chinese women with GDM and the mutation affected GRβ binding and transcription of PPARγ2 for adipogenesis.

Phuket Marine Biological Center Research Bulletin, 77, 1, 61-76

Polygonia c-album var. interposita Staudinger, 1881 recently raised to the species level was studied by molecular methods. It is shown that this taxon is the subspecies of P. c-album (Linnaeus, 1758): P. c-album interposita Staudinger, 1881, stat. rev. The Polygonia c-album group populations from Mongolia also did not have good differences from European and Middle Asiatic populations in sequences COI and EF-1a, so the taxon adiya we can treat as subspecies Polygonia c-album adiya Churkin, 2003, stat. n.; it is possibly a synonym of Siberian subspecies kultukensis Kleinschmidt, 1929.

Cetacean morbillivirus (CeMV) is considered the most pathogenic virus in cetaceans. Three strains have been already described the dolphin morbillivirus (DMV), the porpoise morbillivirus (PMV) and the tentatively named pilot whale morbillivirus (PWMV).This study describes the molecular characterization of a strain of CeMV detected in the brain of a short-finned pilot whale that had stranded in the Eastern Atlantic Ocean around the Canary Islands and that showed lesions compatible with morbilliviral disease. Sequences for the nucleoprotein, phosphoprotein, fusion protein and haemagglutinin genes were obtained. The phylogenetic study showed high homology (97%) with the PWMV strain previously detected from a long-finned pilot whale stranded in the Western Atlantic Ocean. These results support the existing classification of CeMV into three principal genetic clusters. © 2010 Elsevier Ltd.

Aspiculuris tetraptera is a heteroxynematid nematoda infecting most of the laboratory animals, occasionally mice which represent the mostly used animal for biological, medical, and pharmacological studies. The present study aimed to investigate the prevalence of nematode parasites infection in the laboratory mice Mus musculus in Egypt. Morphologically, this oxyurid possessed four distinct cephalic papillae on a cephalic plate, with three small rudimental lips carrying two sessile poorly developed labial papillae and one pair of amphidial pores. Esophagus divided into cylindrical corpus and globular bulb. Distinct cervical alae interrupted at the level of esophago–intestinal junction forming an acute angle. At the caudal end, twelve caudal papillae in male worms while an ovijector apparatus opening and a vulva surrounded by protruded lips in females were observed. The general morphological criteria include this nematode with other Aspiculuris species which were compared in the present study. Molecular characterization based on 18SSU rDNA sequencing performed to confirm the taxonomic position of this species and to documents the morphological data. Sequence alignment detects a percent of identity up to 88.0% with other Heteroxynematidae species. Phylogenetic analysis showed that the present recorded is a putative sister taxon to A. tetraptera recorded in a previous study. The SSU rDNA sequence has been deposited in the GenBank under the accession no. MG019400.

A new feather mite species, Dolichodectes hispanicus sp. n. (Astigmata: Proctophyllodidae), is described from the Melodious Warbler Hippolais polyglotta (Vieillot) (Passeriformes: Acrocephalidae) in Spain. The new species is closest to the type species of the genus, D. edwardsi (Trouessart, 1885) from the Grear Reed-Warbler Acrocephalus arundinaceus (Linnaeus) (Acrocephalidae). Adults of D. hispanicus differ from those of D. edwardsi by dimensional characteristics, in particular, by having shorter aedeagus that does not extend to the anal suckers in males and shorter hysteronotal shield in females. Tritonymphs of D. hispanicus are much more distinctive and differ from those of D. edwardsi by having the prodorsal shield covering all the prodorsum, the hysteronotal shield occupying about three quarters of the hysterosoma, and idiosomal setae h3 being filiform. The morphological description of the new species is augmented by sequence data from the mitochondrial cytochrome c oxidase subunit I gene fragment (COI).

In the past decade, a notable advance has been made in the understanding of the pathogenesis of NK/T-cell lymphomas; however, their diagnosis remains difficult because of their rarity and clinical and morphological variabilities. The paper generalizes the ten-year experience of the Hematology Research Center, Ministry of Health of Russia, in diagnosing and treating hepatosplenic T-cell lymphoma (HSTL), considers the problems of differential diagnosis with other hematological diseases occurring with similar clinical and laboratory symptoms, and lays down current approaches to the diagnosis and treatment of this condition. A clinician's view of the problem of diagnosis and treatment of this disease is given. HSTL is shown to be a heterogeneous group of diseases differing in a T-cell receptor chain gene rearrangement, the clinical course of the disease, and overall survival (OS). According to our data, 3-year OS was 12%; the median survival was 26 months. Two-year OS for γδ and αβ HSTL was equal to 25 and 70%, respectively. The difference in OS for the variants of HSTL failed to reach statistical significance (because the sample might be insufficient).За последнее десятилетие достигнуты значительные успехи в понимании патогенеза NK/Т-клеточных лимфом, однако их диагностика остается затруднительной вследствие их редкости и клинико-морфологического разнообразия. В статье обобщен десятилетний опыт диагностики и лечения гепатолиенальной Т-клеточной лимфомы (ГЛТЛ) в ФГБУ 'Гематологический научный центр' Минздрава России, рассмотрены вопросы дифференциальной диагностики с другими гематологическими заболеваниями, протекающими со сходными клинико-лабораторными симптомами, сформулированы современные подходы к диагностике и лечению. Представлен взгляд клинициста на проблему диагностики и лечения данного заболевания. Показано, что ГЛТЛ - гетерогенная группа заболеваний, различающихся по реаранжировкам генов цепей Т-клеточного рецептора, клиническому течению заболевания, общей выживаемости (ОВ). По нашим данным, 3-летняя ОВ составила 12%, медиана продолжительности жизни - 26 мес. Для вариантов γδ и αβ ГЛТЛ 2-летняя ОВ равна 25 и 70% соответственно. Различие ОВ для вариантов ГЛТЛ не достигало статистической значимости (возможно, в силу недостаточного объема выборки).

Benign lymphoepithelial lesions (BLEL) are usually found in salivary glands in autoimmune disorders. Some LEL are recognized to already be, or may progress to become, lymphomas. Skin lesions similar to LEL have been described in lymphomas, and are caused by neoplastic lymphocytes which infiltrate adnexal structures. To date, BLEL have not widely been recognized in the skin.We describe skin lesions similar to BLELs, at the periphery of squamous cell carcinomas (SCC) in 8 healthy patients, in one of whom the lesion recurred. Immunocharacterization of both epithelial and lymphocytic components and molecular genetic investigation was performed. Polymerase chain reaction (PCR) analysis was done to detect IgH chain gene, and T-cell receptor beta and gamma gene rearrangements. Association with Epstein-Barr virus (EBV) was also tested by in situ hybridization (ISH) for EBV-encoded RNAs (EBERs).Epithelial cells showed the immunophenotype of eccrine sweat gland ducts. Infiltrating lymphocytes expressed overwhelming B antigens and CD5. Neither clonal B and/or T proliferations nor EBERs signals were demonstrable.We observed skin lesions similar to BLELs, showing modifications of sweat gland duct and CD5+, B lymphocytic expansion. In our cases there were no associated autoimmune disorders; the local immunoresponse to SCC might have caused BLEL.

Background: Achondroplasia (ACH) is the most frequent form of short-limbed dwarfi sm, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. The molecular techniques are the only available methods to confi rm the diagnosis of a skeletal dysplasia. Clinical and radiological features are only suggestive and not confi rmatory. The present study was conducted to fi nd out how often the clinical diagnosis of achondroplasia is verifi ed on molecular studies. Materials and Methods: From 1998 through 2007, we carried out molecular analysis for the two common mutations in the FGFR3 gene in 130 cases clinically suspected to have ACH. Results: A diagnostic mutation was identifi ed in 53 (40.8%) cases. The common mutation (1138G>A) was present in 50 (94.7%) of the positive cases, while the rare 1138 G>C substitution was found in three (5.3%). Conclusion: This study shows that confi rmation of clinical diagnosis of ACH by molecular genetic testing is essential to distinguish it from other skeletal dysplasias, to plan therapeutic options, and to offer genetic counseling. Management (medical and surgical) in patients confi rmed to have ACH, is briefl y discussed.