CREVICULAR FLUID LEVEL OF ELASTASE IN TYPE I AND TYPE II DIABETES MELLITUS PATIENTS

ABSTRAC

Validation of a microarrays protocol for detection and genotyping isolates of Plum pox virus

A genomic strategy for PPV identification has been recently developed (Pasquini et al., 2008). The method is based on using a 70-mer oligonucleotide DNA microarray chip capable of simultaneously detecting and genotyping PPV strains. Universal and specific probes have been identified and used with a sensitive protocol of hybridization using an indirect fluorescent labelling of cDNA product with cyanine able to enhance the sensitivity of the virus detection avoiding the use of the PCR amplification step. In order to evaluate the protocol fitness for diagnostic use, about 30 samples belonging to a PPV isolates collection, including M, D, EA and C strains, have been used for its validation, that was determined, estimating the performance criteria that include the following parameters: diagnostic sensitivity (D-SN), diagnostic specificity (D-SP) and diagnostic accuracy (D-AC). Keywords: oligonucleotides chip, PPV, sensitivity, specificity, accuracy, performance criteri

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. OBJECTIVE: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. RESULTS: We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. CONCLUSION: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis

Redating the formation of Lake Bafa, western Turkey: Integrative geoarchaeological methods and new environmental and dating evidence

The ancient Gulf of Latmos is an iconic example of a dynamic landscape and humankind's historical relationship with it. Using extensive new primary data and original models for calibrating radiocarbon dates in transitional lagoon environments, we demonstrate that Lake Bafa (or Bafa Gölü, in Turkish) formed at a much earlier date than previously thought. In questioning the logical process by which previous dates were achieved, we re‐examine the relationship between sedimentological data, archaeology and written history. We reassert the need to establish independently dated environmental data sets as the foundation of regional studies as distinct from archaeological and historical interpretive processes. We conclude that Lake Bafa slowly transitioned to become an isolated lagoon sometime between the end of the second millennium B.C. and end of the first millennium B.C.; becoming a fully closed brackish lake during the second millennium A.D. This marks a major shift in our understanding of the nature of human occupation and activity here during the last four millennia but also in the way we date ancient lagoons and integrate historical and environmental data in general

On field testing after anterior cruciate ligament reconstruction

[No abstract available

Effect of social isolation on the brain injury following focal cerebral ischemia in mice and proteomic approach for identifying possible cellular pathways

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Identification of a phytoplasma associated with cherry decline in Turkey

Large scale surveys were conducted in the Mediterranean and Aegean Regions of Turkey between 2011-2015. Some sweet cherry (Prunus avium L.) trees exhibiting symptoms typical of phytoplasma diseases such as proliferation, off season flowering and decline were observed in Adana and Uşak provinces. In order to establish phytoplasma association with these symptoms, nucleic acid was extracted from leaf midribs of symptomatic and symptomless plants. Nested PCR assays and RFLP analysis showed that all amplicons had identical restriction profiles, according to the enzymes and primers employed. Phylogenetic analysis of one sequence from the 1,006-bp R16F2n ⁄R16R2 product (KF476062) showed 99% identity with 16S rDNA from several phytoplasmas related to ‘Candidatus Phytoplasma asteris’ and in particular to aster yellows strains from cherries. Studies on the characterization of cherry phytoplasma isolates and their possible vectors are still under investigation