• Medeiros Vaughn posted an update 6 months ago

    Many mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA). Patients’ cells contain a mixture of mutant and nonmutant mtDNA (a phenomenon called heteroplasmy). The proportion of mutant mtDNA varies across patients and among tissues within a patient. We simultaneously assayed single-cell heteroplasmy and cell state in thousands of blood cells obtained from three unrelated patients who had A3243G-associated mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes. We observed a broad range of heteroplasmy across all cell types but also found markedly reduced heteroplasmy in T cells, a finding consistent with purifying selection within this lineage. We observed this pattern in six additional patients who had heteroplasmic A3243G without strokelike episodes. N6-methyladenosine nmr (Funded by the Marriott Foundation and others.).

    In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However, the causal nature of single-nucleotide variants and small insertions and deletions in exomes has been understudied.

    We generated exome sequencing data for 246 stillborn cases and followed established guidelines to identify causal variants in disease-associated genes. These genes included those that have been associated with stillbirth and strong candidate genes. We also evaluated the contribution of 18,653 genes in case-control analyses stratified according to the degree of depletion of functional variation (described here as “intolerance” to variation).

    We identified molecular diagnoses in 15 of 246 cases of stillbirth (6.1%) involving seven genes that have been implicated in stillbirth and six disease genes that are good candidates for phenotypic expansion. Among the cases we evaluated, we alsnal (as generated through the stratified analysis) was similar to that in known disease genes, which indicates that the genetic cause of stillbirth remains largely unknown. (Funded by the Institute for Genomic Medicine.).

    The aim was to determine the load-bearing capacity of anterior crowns prepared using two types of single-structure short fibre-reinforced composites (SFRCs). Furthermore, fracture toughness (FT), flexural strength (FS) and flexural modulus (FM) of tested composites were measured.

    Seven groups of composite crowns were designed for an upper central incisor (n=8/group). Two groups were CAD/CAM fabricated made of Cerasmart 270 and experimental single-structure SFRC blocks. Two groups were 3D-printed made of GC Temp PRINT and Pro3dure GR-17 composites. Two groups were made of conventional light-cured composites (Essentia and Gradia Plus). The last group was a single-structure SFRC made of commercial flowable SFRC (everX Flow). Crown restorations were loaded until fracture. Failure-modes were then visually examined. FT, FS and FM were determined for each tested composite (n=8). The data were analysed using analysis of variance (p=0.05) followed by Tukey’s post-hoc test.

    ANOVA revealed that crowns made of experimental SFRC blocks had significantly higher load-bearing capacities (1650 ±230 N) (p⟨0.05) among all the groups tested. Experimental SFRC blocks exhibited the highest FT (2.9 MPa m1/2) and FS (245.8 MPa) values (p⟨0.05) among tested composites.

    CAD/CAM fabricated restorations made of experimental SFRC blocks demonstrated encouraging performance related to their fracture-behaviour.

    CAD/CAM fabricated restorations made of experimental SFRC blocks demonstrated encouraging performance related to their fracture-behaviour.Scientific data analysing color masking abilities of chairside CAD/CAM materials is lacking. The purpose of this in-vitro study was to evaluate the thickness and shade influence of three materials on their optical behaviour. Three materials a) LD Lithium disilicate glass ceramic (Emax, Ivoclar Vivadent), b) LDS Lithium-disilicate-strengthened aluminosilicate glass ceramic (N!ce, Straumann) and c) RNC Resin Nanoceramic (Lava Ultimate, 3M ESPE) were polished in different shades (A1,A2,A3) and thicknesses (0.1- 1.2mm). Specimens (N=108; n=36 per group) (12x12x1mm3) were positioned on resin composite base (Clearfil AP-X, Kuraray) in shade A3. Spectrophotometric measurements were performed and the parameters thickness, shade and material were analysed using three-way ANOVA, and pairwise T-tests (P-values ⟨ 0.05). Both the shade (p⟨0.001) and the interaction of material in correlation to thickness (p⟨0.001) were significant. Shade value A1-A3 comparisons were significant A1 vs. A2 (p=0.045); A2 vs. A3 (p=0.002); A1 vs. A3 (p⟨0.001)). A significant correlation of the material and thickness was observed when comparing LD and LDS (p=0.007) at the thickness of 0.1-0.4 mm. Masking abilities were influenced by material and thickness choice. Reinforced glass ceramics showed the best results in the smallest thickness tested (0.1-0.4 mm). LDS could be considered as an advantageous alternative in minimal-invasive cases.We report on a new species, Micryletta dissimulanssp. nov., from the lowland forests of southern Thailand, which is described based on molecular and morphological evidence. The new species is characterized by a combination of the following characters small body size (20.3-22.4 mm in males, 24.4-26.7 mm in females); slender body habitus; head longer than wide; snout rounded in dorsal and lateral view; eye length equal to snout length; tibiotarsal articulation reaching to tympanum; dorsal surface slightly granulated to shagreened; supratympanic fold indistinct, ventrally edged in black with large black spot behind eye; outer metatarsal tubercle absent; dorsum reddish-brown with merging irregular-shaped brown blotches edged in beige, no black spots on dorsum; body flanks brown with large black spots edged in whitish mottling, two large black blotches in axillary and inguinal areas on each side; lateral sides of head black, with white patches on lips absent, whitish mottling on tympanum and axillary region; ventral surface pinkish to bluish-gray, translucent, laterally with dark-brown marbled pattern, medially immaculate; throat in males dark-gray with sparse white mottling laterally; iris copper-orange. The new species is divergent from all other congeners in 16S rRNA gene sequences (5.0%-7.4%). To date, Micryletta dissimulanssp. nov. is only known from a single locality in Saba Yoi District, Songkhla Province, Thailand, at an elevation of 120 m a.s.l., but is also expected to occur in neighboring parts of Malaysia. We suggest Micryletta dissimulanssp. nov. be considered as a Data Deficient (DD) species following the IUCN’s Red List categories (IUCN Standards and Petitions Committee, 2019).

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