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Objective Mutations in polymerase gamma gene (POLG) are believed to be an important cause of early and juvenile onset of non-syndromic intractable epilepsy. The aim of this study is to investigate the incidence/prevalence of POLG pathogenic variants in epilespy patients of Han population through sequencing it.Methods Han Chinese patients with seizures prior valproic acid (VPA) exposure at Shanghai Children's Hospital were collected from 2015 to 2019. The clinical diagnosis was based on the 2014 Consensus Statement of Epilepsy by the International League against Epilepsy (ILAE). Blood sampling were performed before VPA treatment. The POLG gene DNA was sequenced by either the first or the next generation sequencing (NGS). The POLG variant burden was illustrated. Liver functions were tested to describe whether they experienced VPA toxicity.Results Totally 216 Han Chinese patients were included, aged from 1 month to 15 years old, 102 were male and 114 were female. The onset age was 1 month old to 13 years old, and the epilepsy course ranged from 2 weeks to about 3 years. VPA treatment was delivered for the generalized or intractable partial seizures at standard dosage. No patient experienced hepatic toxicity following VPA exposure. DNA sequencing data showed no patient had either a homozygous mutation or compound heterozygous mutation of POLG. Single heterozygous mutations of c.1150G>T and p.D384Y were found in 2 patients, and single heterozygous mutation of c.156_158dupGCA was found in 1 patient. None of these variants showed clinical significance.Conclusions Functional modifying POLG homozygous mutations and compound heterozygous mutations were not detected and VPA toxicity was not seen in the current study. POLG mutation frequency might be rare in Han Chinese, and standard VPA therapeutic dosage might be safe for Han Chinese patients.
Assuntos
Povo Asiático/genética , DNA Polimerase gama/genética , Etnicidade/genética , Mutação/genética , Sequência de Aminoácidos , Sequência de Bases , DNA Polimerase gama/química , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Fases de Leitura Aberta/genéticaRESUMO
BACKGROUND: No clinical data for the relationship of pronator quadratus (PQ) muscle to distal radius had been reported. The aim of this study was to investigate the anatomical features of the PQ muscle related to plate osteosynthesis for distal radius fractures in clinical cases. The feasibility of PQ muscle sparing surgery was investigated as well. METHODS: Fifty two distal radius fractures (23-A2) were enclosed in this study. The whole width of the muscle and the distance from the distal edge of the muscle to the joint surface of the distal radius were measured. The distance from the fracture site of the radius to the joint surface was measured as well. RESULTS: The average width of the pronator quadratus muscle was 37.6 mm. The average distance from the pronator quadratus muscle to the lunate fossa surface was 12.2 mm, and the average distance from the pronator quadratus muscle to the scaphoid fossa surface was 13.6 mm. The average distance from the lunate fossa of the distal radius to the fracture site was 12.2 mm (range, 7.3-17 mm), and the scaphoid fossa of the distal radius to the fracture site was 13.2 mm (range, 9.4-18.8 mm). CONCLUSIONS: This PQ muscle sparing surgery is feasible and can be performed without difficulty. The data might provide a useful basis for the preservation of pronator quadratus muscle applied to a functionally reduced fracture regarding the potential efficacy of conventional volar plate osteosynthesis.
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Fixação Interna de Fraturas/métodos , Músculo Esquelético/cirurgia , Fraturas do Rádio/cirurgia , Estudos de Viabilidade , Fixação Interna de Fraturas/efeitos adversos , Consolidação da Fratura , Humanos , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Estudos Prospectivos , Radiografia , Fraturas do Rádio/diagnóstico , Resultado do Tratamento , Extremidade SuperiorRESUMO
Long non-coding regions (NCRs) and gene rearrangements are commonly seen in mitochondrial genomes of Mantodea and are primarily focused on three regions: CR-I-Q-M-ND2, COX2-K-D-ATP8, and ND3-A-R-N-S-E-F-ND5. In this study, eight complete and one nearly complete mitochondrial genomes of praying mantises were acquired for the purpose of discussing mitochondrial gene rearrangements and phylogenetic relationships within Mantodea, primarily in the newly established families Haaniidae and Gonypetidae. Except for Heterochaeta sp. JZ-2017, novel mitochondrial gene arrangements were detected in Cheddikulama straminea, Sinomiopteryx graham, Pseudovates chlorophaea, Spilomantis occipitalis. Of note is the fact that one type of novel arrangement was detected for the first time in the Cyt b-S2-ND1 region. This could be reliably explained by the tandem replication-random loss (TDRL) model. The long NCR between trnT and trnP was generally found in Iridopteryginae and was similar to the ND4L or ND6 gene. Combined with gene rearrangements and intergenic regions, the monophyly of Haaniidae was supported, whereas the paraphyly of Gonypetidae was recovered. Furthermore, several synapomorphies unique to some clades were detected that conserved block sequences between trnI and trnQ and gaps between trnT and trnP in Toxoderidae and Iridopteryginae, respectively.
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The complete mitochondrial genome of the Annamanum lunulatum is 15,610 bp in length, which contains 13 protein-coding genes, 22 transfer RNAs, two ribosomal RNAs, and the A + T-rich region. The arrangement of genes is identical to all know longhorn beetles mitochondrial genomes. The overall AT content of the mitochondrial genome is 75.3%, whereas the AT content of A + T-rich region is 84.3%. In ML and BI phylogenetic analyses, A. lunulatum is a sister clade to Blepephaeus succinctor, and the monophyly of Lamiinae is supported.
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The mitochondrial genome of Epeorus herklotsi (Ephemeroptera: Heptageniidae) is a circular molecule of 15,801 bp in length with a base composition of 32.7% A, 32.9% T, 21.5% C, 13.0% G, including extra tRNAMet gene. The IMQM tRNA cluster is found in E. herklotsi as well as Parafornuru youi and two species of Epeorus (KM244708, KJ493406), while the typical IQM tRNA cluster is found in Paegniodes cupulatus. In BI and ML phylogenetic trees, the monophyly of the families Heptageniidae, Baetidae, and Ephemerellidae are highly supported. E. herklotsi is a sister clade to Epeorus sp2. (KJ493406).
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We acquired 21 complete mitogenomes and 6 nearly complete mitogenomes of mantises belonging to 8 families (Hymenopodidae, Iridopterygidae, Mantidae, Metallyticidae, Sibyllidae, Tarachodidae, Thespidae, Toxoderidae) using 14 pairs of mantid specific primer sets and found that 5 species of mantises have duplicate copies (2-4) of trnR: Ambivia undata, Creobroter jiangxiensis, Creobroter urbanus, Phyllothelys sp1. and Theopropus elegans while two novel gene arrangements CR-I-NCR-I-NCR-I-NCR-I-NCR-I-NCR*-Q-M and COII-K*-D*-K-D*-K-D*-K-D were found in Schizocephala bicornis and Stenotoxodera porioni, respectively. The multiple copies of trnR are caused by independent duplications. The gene arrangements in Stenotoxodera porioni with three identical copies of trnK can be explained as mid-way through the TDRL process while the form of gene arrangement in Schizocephala bicornis is unclear. In the phylogeny at the family level, the monophyly of Liturgusidae and Iridopterygidae was supported, whereas the monophyly of Hymenopodidae, Mantidae and Tarachodidae wasn't. The features of mantis mitochondrial genomes including high duplication rates of trnR, trnK and trnI indicate that Mantodea mitochondrial genomes maybe a useful model system for studying gene duplication. However, derived gene arrangements may not be appropriate for phylogenetic inference in Mantodea as they aren't synapomorphy and aren't shared by close relatives.
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Genoma Mitocondrial/genética , Mantódeos/genética , Filogenia , RNA de Transferência/genética , Animais , Baratas/genética , Duplicação GênicaRESUMO
In this data article, we provide five datasets of mantis mitochondrial genomes: (1) PCG123: nucleotide sequences of 13 protein-coding genes including all codon positions; (2) PCG123R: nucleotide sequences of two rRNAs and 13 protein-coding genes including all codon positions; (3) PCG12: nucleotide sequences of 13 protein-coding genes without third codon positions; (4) PCG12R: nucleotide sequences of two rRNAs and 13 protein-coding genes without third codon positions, and (5) PCGAA: amino acid sequences of 13 protein-coding genes. These were used to construct phylogenetic relationships within Mantodea and the phylogenetic trees inferred from Bayesian analysis using two data sets (PCG12R, PCGAA) and Maximum Likelihood analysis using four data sets (PCG123, PCG12, PCG12R and PCGAA). We also provide initiation codon, termination codon, amino acid length and nucleotide diversity (Pi) of protein-coding genes among 27 mantises. The whole mitochondrial genomes of 27 praying mantises were submitted to GenBank with the accession numbers KY689112-KY689138.