Dual mini-fragment plate fixation of midshaft clavicle fractures is biomechanically equivalent to anatomic pre-contoured plating.

OBJECTIVES: To biomechanically compare the stiffness of midshaft synthetic clavicle osteotomies fixed with either superior anatomic pre-contoured locking plates, anterior anatomic pre-contoured locking plates, or short-segment dual orthogonal mini-plate fixation. DESIGN AND SETTING: Controlled laboratory study. Specimens Twenty-one synthetic pre-osteotomized clavicles were separated into three groups: superior plating, anterior plating, or dual-plating. Each clavicle was sequentially tested in non-destructive cycles of axial compression, three-point bending, and torsion. Load and displacement were recorded. Stiffness was calculated. RESULTS: No statistically significant differences were found between construct stiffness during axial compression, three-point bending, or torsional testing. One superior plated clavicle suffered catastrophic failure during axial compression. One dual mini-fragment plated clavicle suffered catastrophic failure during torsion. CONCLUSIONS: Orthogonal dual mini-fragment fixation of transverse clavicle fractures is biomechanically similar to superior and anterior pre-contoured anatomic locking plate fixation. No statistically significant differences in construct stiffness were found in axial compression, three-point bending, or torsion testing. Further clinical research is required to determine the long-term stability of dual mini-fragment plate fixation. LEVEL OF EVIDENCE: IV.

A Case Series of TERC Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada.

TERC variant telomere biology disorders (TBDs) are a rare, heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERC lead to accelerated telomere attrition and can manifest as many different phenotypes. In this case series, we aimed to add to the literature describing TERC variant TBDs by reporting cases from two unrelated families from Atlantic Canada. The first case, a previously described germline TERC variant, n.107G>T (NR_001566.1), was identified in a young woman with myelodysplastic syndrome (MDS) and found to segregate with cytopenias in the family. This case represents a unique phenotypic presentation: this variant has not previously been described in patients with MDS and adds important segregation data to the literature. The second case, a novel TERC n.437T>G variant, was identified in a patient with both aplastic anemia and pulmonary fibrosis manifesting in his early 30s. We report these novel cases of germline TERC variants in order to help clinicians recognize TBDs, as well as to add important supporting information for the pathogenicity of these variants.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3 weeks to 67 years, with disease onset after age 40 years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in SNORD118. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5' end and 3' extension of precursor-U8. There was no obvious genotype-phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3' end processing of precursor-U8.

A survey of Polytomella (Chlorophyceae, Chlorophyta) strains in public culture collections.

Polytomella is a genus of colorless green algae in the Reinhardtinia clade of the Chlamydomonadales, which has proven useful for a broad range of studies particularly those exploring the evolutionary loss of photosynthesis and mitochondrial genomics/biochemistry. Although 13 Polytomella strain accessions are currently available from public culture collections, the taxonomic status and redundancy of many of these strains is not clear because of possible mix-ups, deficient historical records, and incomplete molecular data. This study therefore considers previously available and/or new cox1 and mitochondrial DNA telomere sequences from all 13 Polytomella strain accessions. Among four of these, namely P. parva SAG 63-3, P. piriformis SAG 63-10, P. capuana SAG 63-5, and P. magna SAG 63-9, cox1 and mitochondrial telomere regions are both highly divergent between strains. All of the remaining nine Polytomella strain accessions have cox1 sequences that are identical to that of P. parva SAG 63-3 and although five of these have a mitochondrial telomere haplotype that is identical to that of P. parva SAG 63-3, the remaining four have one of three different haplotypes. Among the 10 strains with identical cox1 sequences, we suggest that three of the telomere haplotypes are associated with distinct geographical isolates of Polytomella and the fourth evolved from one of these isolates during 50 years of active culture.

Validation of Polytomella piriformis nomen nudum (Chlamydomonadaceae): a Distinct Lineage Within a Genus of Nonphotosynthetic Green Algae.

Polytomella strain SAG 63-10 was first described by Pringsheim (1963) as Polytomella piriformis nomen nudum. The current study validates the name Polytomella piriformis following the International Code of Nomenclature for algae, fungi, and plants (ICN). We present 18S rRNA sequences of SAG 63-10 and several other Polytomella strains, which, along with existing mitochondrial DNA sequences, clearly distinguishes P. piriformis n. sp. from other available Polytomella species. The first type material of the species is presented, as well as an illustration and micrographs. Our own observations of P. piriformis SAG 63-10 are compared to Pringsheim's description and to descriptions of other valid Polytomella spp.

BioMiCo: a supervised Bayesian model for inference of microbial community structure.

BACKGROUND: Microbiome samples often represent mixtures of communities, where each community is composed of overlapping assemblages of species. Such mixtures are complex, the number of species is huge and abundance information for many species is often sparse. Classical methods have a limited value for identifying complex features within such data. RESULTS: Here, we describe a novel hierarchical model for Bayesian inference of microbial communities (BioMiCo). The model takes abundance data derived from environmental DNA, and models the composition of each sample by a two-level hierarchy of mixture distributions constrained by Dirichlet priors. BioMiCo is supervised, using known features for samples and appropriate prior constraints to overcome the challenges posed by many variables, sparse data, and large numbers of rare species. The model is trained on a portion of the data, where it learns how assemblages of species are mixed to form communities and how assemblages are related to the known features of each sample. Training yields a model that can predict the features of new samples. We used BioMiCo to build models for three serially sampled datasets and tested their predictive accuracy across different time points. The first model was trained to predict both body site (hand, mouth, and gut) and individual human host. It was able to reliably distinguish these features across different time points. The second was trained on vaginal microbiomes to predict both the Nugent score and individual human host. We found that women having normal and elevated Nugent scores had distinct microbiome structures that persisted over time, with additional structure within women having elevated scores. The third was trained for the purpose of assessing seasonal transitions in a coastal bacterial community. Application of this model to a high-resolution time series permitted us to track the rate and time of community succession and accurately predict known ecosystem-level events. CONCLUSION: BioMiCo provides a framework for learning the structure of microbial communities and for making predictions based on microbial assemblages. By training on carefully chosen features (abiotic or biotic), BioMiCo can be used to understand and predict transitions between complex communities composed of hundreds of microbial species.

Maternal reminiscing style during early childhood predicts the age of adolescents' earliest memories.

Individual differences in parental reminiscing style are hypothesized to have long-lasting effects on children's autobiographical memory development, including the age of their earliest memories. This study represents the first prospective test of this hypothesis. Conversations about past events between 17 mother-child dyads were recorded on multiple occasions between the children's 2nd and 4th birthdays. When these children were aged 12-13 years, they were interviewed about their early memories. Adolescents whose mothers used a greater ratio of elaborations to repetitions during the early childhood conversations had earlier memories than adolescents whose mothers used a smaller ratio of elaborations to repetitions. This finding is consistent with the hypothesis that past-event conversations during early childhood have long-lasting effects on autobiographical memory.

Looking back to the future: Maori and Pakeha mother-child birth stories.

Maori adults have earlier first memories than adults in any culture studied to date. To test the role of early memory socialization in this advantage, Maori (n= 15) and New Zealand European (or Pakeha, n= 17) mothers told birth stories and stories of shared past events to their children (3-4 or 7-8 years). Compared to Pakeha mothers, Maori mothers elaborated more in the birth stories, relative to their elaborations in stories about shared past events, and included more references to relational time and internal states in their birth stories. These data provide the first empirical evidence that Maori children experience a richer narrative environment than Pakeha children for significant events in their past.