family

Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation, and is sometimes extremely difficult, particularly in adult patients. Genetic diagnosis based on DNA sequencing, on the other hand, can be expensive, time-consuming, and intensive because COMP mutations may be scattered throughout the gene. However, there is evidence that decreased plasma COMP concentration may serve as a diagnostic marker in PSACH, particularly in adult patients. Here, we report the serum and/or plasma COMP concentration-based differential diagnosis of a family with affected adult members. The mean serum and/or plasma COMP concentrations of the three affected family members alive (0.69 +/- 0.15 and/or 0.81 +/- 0.08 mu g/ml, respectively) were significantly lower than those of an age-compatible control group of 21 adults (1.52 +/- 0.37 and/or 1.37 +/- 0.36 mu g/ml, respectively; PG in exon 14 of the COMP gene, resulting in a substitution of amino acid 511 from aspartic acid to glycine in COMP. Thus, serum and/or plasma COMP concentration may be suggested as an additional diagnostic marker to aid clinical and radiographic findings in suspected cases of PSACH.C1 Pamukkale Univ, Sch Med, Dept Histol & Embryol, Denizli, Turkey.Pamukkale Univ, Res Ctr Genet Engn & Biotechnol, Denizli, Turkey.Pamukkale Univ, Sch Med, Ctr Genet Diag, Dept Med Biol,Mol Genet Lab, Denizli, Turkey.St Marys Hosp, NGRL, Manchester M13 0JH, Lancs, England.Republ Turkey Minist Hlth, Birgi Med Ctr, Izmir, Turkey.Pamukkale Univ, Sch Med, Dept Radiol, Denizli, Turkey

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.

Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation, and is sometimes extremely difficult, particularly in adult patients. Genetic diagnosis based on DNA sequencing, on the other hand, can be expensive, time-consuming, and intensive because COMP mutations may be scattered throughout the gene. However, there is evidence that decreased plasma COMP concentration may serve as a diagnostic marker in PSACH, particularly in adult patients. Here, we report the serum and/or plasma COMP concentration-based differential diagnosis of a family with affected adult members. The mean serum and/or plasma COMP concentrations of the three affected family members alive (0.69+/-0.15 and/or 0.81+/-0.08 microg/ml, respectively) were significantly lower than those of an age-compatible control group of 21 adults (1.52+/-0.37 and/or 1.37+/-0.36 microg/ml, respectively; PG in exon 14 of the COMP gene, resulting in a substitution of amino acid 511 from aspartic acid to glycine in COMP. Thus, serum and/or plasma COMP concentration may be suggested as an additional diagnostic marker to aid clinical and radiographic findings in suspected cases of PSACH

on Focused Ion Beam nanocuts

The marine diatom Olifantiella Riaux-Gobin et Compere predominantly occurs in tropical Indo-Pacific coral reef environments. The genus has about a dozen validly published taxa and is characterized by transapically elongate striae composed of a macroareola, broad perforated girdle, and tubular buciniportula process of trumpet-shape. The valve mantle of taxa related to the generitype, O. mascarenica, have a canal- shaped structure around the valve at the face / mantle junction, while those to O. gorandiana have a simple mantle or strongly narrow canal and complex buciniportula composed of hollow processes. The geographic distribution of Olifantiella is expanded in this study to include species observed in loggerhead sea turtles scrapes from the Aegean Turkish coast and samples from the Turkish Black Sea and Adriatic Sea coasts. Olifantiella has also been identified in Martinique Island, Caribbean Sea. A transfer of Navicula infirmitata is proposed due to the areola and buciniportula structure, as Olifantiella infirmitata. Further, an application of the Focused Ion Beam (FIB) to a sequential cutting of frustules allows resolution of Olifantiella mascarenica valve ultrastructure

AN OVERLOOKED GENUS "OLIFANTIELLA C. RIAUX-GOBIN & COMPERE". EXPANDING

Tristan Richmond Temple High Schoolhttps://dc.swosu.edu/barkpic16/1138/thumbnail.jp

Biodiversity of carapace epibiont diatoms in loggerhead sea turtles (Caretta caretta Linnaeus 1758) in the Aegean Sea Turkish coast.

BACKGROUND: The Aegean Sea coast of Turkey hosts one of the most important nesting grounds for loggerhead sea turtles (Caretta caretta) in the Mediterranean Sea. Previous studies have revealed that the sea turtle carapace provides favourable conditions for various epibiontic organisms. Epibionts occurring on the carapace have been examined from different locations in the oceans. METHODS: This is the first time such a high number (39) of samples collected from nesting turtles during such a long time period (extending from 2011 to 2018) has been used for the study of the diatom component of the microbiome on the turtle carapaces. A total of 33 samples were investigated in terms of light microscopy (LM) and scanning electron microscopy (SEM). Six unprocessed biofilm fragments were subject to SEM observations. RESULTS: A total of 457 epizoic diatom taxa belonging to 86 genera were identified. Epizoic forms, e.g., Achnanthes spp., Chelonicola spp. or Tripterion spp. (also identified by SEM observations of the undisturbed pieces of the microbiome) dominated in terms of relative abundance, but the highest numbers of taxa were ubiquitously represented by Navicula (79), Nitzschia (45), Amphora (40), Cocconeis (32), Diploneis (25) and Mastogloia (23). Navicula perminuta and Delphineis australis were the most frequent taxa, present in 65% of the samples, both with an average relative abundance of 10%. The results of our study revealed that diatoms are an essential component of the loggerhead sea turtles' microbiome, in terms of high biodiversity and abundance. Although strict epibionts provide a signature of the turtle microbiome, the carapace as a solid substrate attracts numerous benthic diatom species which are considered opportunistic forms and can be found in the surrounding benthic habitats of the vast ocean littoral space