Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the <i>LBR</i> gene and a homozygous likely pathogenic variant in the <i>SLC26A4</i> gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition, and in the current literature, there is no case with PDS and PHA co-existence either. PHA may be accompanied by multiple skeletal abnormalities. In our case, there is also concomitance with osteochondroma. Although these are independent and distinct diagnoses, we present this case due to the concomitance of these situations.

Molecular (ISSR, cp DNA, ITS) and Morphological Study of the Genus Tragopogon L. (Asteraceae)

Tragopogon L. (Cichorioideae, Lactuceae, Scorzonerinae) is an Old World genus with 150 species, Rechinger in Flora Iranica divided this genus in 13 section and 37 species that 26 species of them are exist in Iran. Safavi et al. divided it into 26 species without sections in flora Iran. Despite the anatomical and molecular studies done around the world, the exact classification of this genus is not clear due to the high number of secret species, hybridization, polyploidy and rapid diversification. The morphology studies of 32 species and Molecular studies (ISSR, ITS, cp DNA) of 22 species of the genus Tragopogon was investigated . The purpose of these studies are classification and determination of interspecific relationship in this genus. Sections of Rubriflori, Sosnowskya, Chromopappus, Majores, Angustissimi, Krascheninnikovia in flora of Iranica are confirmed on the basis of morphometry and molecular data. Section of Profundisulcati in flora Iranica is confirmed on the base of morphometry data. The Species of T. jesdianus, T . porphyrocephalus, T. rezaiyensis and T. Stroterocarpus in the flora of Iranica are not classified in any section which we classified in the Rubriflori section, Cp DNA dendrogram are not useful for classification in this genus and Chloroplast sequences are very similar among Tragopogon species, Therefore, the use of cp DNA markers in the classification of this genus is not recommended.

Measles and rubella in the North-West of Russia in period of elimination

Aim: To evaluate the epidemic situation on measles and rubella and to carry out the laboratory diagnostics of these infections in the North-West of Russia in the period of elimination.Materials and Methods. In 2016-2019 a total of 534 blood serum samples from patients with measles diagnosis, 210 – from patients with rubella diagnosis and 1251 – from patients with exanthema were studied by ELISA using “VectoMeasles-IgM” and “EIA-Rubella-IgM” test-systems.Results. Measles incidence in NWR varied from 0 to 0.96 per 100,000 in 2016 and 2019, respectively. Among measles patients the proportion of children and adults changed in 2018-2019, adults constituted 65.9%. Patients not vaccinated against measles and those with the unknown vaccination status were mainly involved in epidemic process (85%). High level of patients with revaccination status was revealed in 2018 (18.4%). These patients demonstrated high levels of IgG (>3.0 IU/ml) as well as high percentage of IgG avidity (>94.3%) on 4-7th day of rash onset thus evidencing secondary immune response. Molecular studies of the samples from patients revealed the circulation of D8 and B3 genotypes of measles virus. Strains of D8 and B3 genotypes were represented by 3 and 4 variants, respectively. Rubella incidence did not exceed 0.13 per 100,000. Strains of rubella virus of genotype 1E were detected.Conclusion. The data of annual measles incidence and molecular studies of circulating wild type measles viruses prove the on-going measles elimination process in the NorthWest of Russia. For rubella, the persistent phase of elimination was demonstrated in the region.

Classifications of Iris L. genus at the biological and molecular levels as a basis for modern phylogenetic studies

Aim. To analyze and summarize literature data on the state of classification and taxonomy of Iris genus plants of Iridaceae family.Results and discussion. The genus Iris L. is one of the largest species of Iridaceae Juss family, which includes 1,800 species of 80 genera. Despite the fact that plants are very common as ornamental plants, there is currently no single classification for both horticultural and wild species of Iris genus. Various classifications and systems of irises have been proposed, the main difference between them is related to the understanding of the genus scope. The taxonomy of Iris genus underwent dramatic changes in the last century, especially in recent decades after the introduction of molecular methods. This paper deals with the analysis of current literature data on the existing classifications of Iris genus plants, the correspondence between taxonomic studies and the results of recent molecular studies. The data presented summarize the traditional classifications according to Rodionenko and Matthew, and also describe modern achievements in phylogenetic studies of this genus using functional genomic studies, involving molecular markers in irises. Conclusions. The data analyzed and summarized in the article can be useful for solving issues of taxonomy, phylogeny, genetics and practical problems of selection of plants of Iris genus; in addition, they will contribute to a more appropriate use of the Iris raw material in practical pharmacy.

A versatile tRNA modification-sensitive northern blot method with enhanced performance

The ~22 mitochondrial and ~45 cytosolic tRNAs contain several dozen different posttranscriptional modified nucleotides such that each carries a unique constellation that complements its function. Many tRNA modifications are linked to altered gene expression and their deficiencies due to mutations in tRNA modification enzymes (TMEs) are responsible for numerous diseases. Easily accessible methods to detect tRNA hypomodifications can facilitate progress in advancing such molecular studies. Our lab developed a northern blot method that can quantify relative levels of base modifications on multiple specific tRNAs ~10 years ago which has been used to characterize four different TME deficiencies and is likely further extendable. The assay method depends on differential annealing efficiency of an DNA-oligo probe to the modified versus unmodified tRNA. The signal of this probe is then normalized by a second probe elsewhere on the same tRNA. This positive hybridization in the absence of modification (PHAM) assay has proven useful for i6A37, t6A37, m3C32 and m2,2G26 in multiple laboratories. Yet, over the years we have observed idiosyncratic inconsistency and variability in the assay. Here we document these for some tRNAs and probes and illustrate principles and practices for improved reliability and uniformity in performance. We provide an overview of the method and illustrate benefits of the improved conditions. This is followed by data that demonstrate quantitative validation of PHAM using a TME deletion control, and that nearby modifications can falsely alter the calculated apparent modification efficiency. Finally, we include a calculator tool for matching probe and hybridization conditions.

Bothrops bilineatus: An Arboreal Pitviper in the Amazon and Atlantic Forest

The two-striped forest-pitviper (Bothrops bilineatus) is an arboreal snake that is currently represented by two subspecies (B. b. bilineatus and B. b. smaragdinus) that comprise a species complex, and its distribution is in the Amazon and the Atlantic Forest. The rarity of encounters with this snake is reflected in the low occurrence of cases of snakebites throughout its geographic distribution and the resulting low number of published clinical reports. However, in some areas, B. bilineatus proves to be more frequent and causes envenomations in a greater proportion. Herein, we review the main aspects of the species complex B. bilineatus, including its biology, ecology, taxonomy, morphology, genetic and molecular studies, geographic distribution, conservation status, venom, pathophysiology and clinical aspects, and epidemiology. In addition, the different antivenoms available for the treatment of envenomations caused by B. bilineatus are presented along with suggestions for future studies that are needed for a better understanding of the snakebites caused by this snake.