Comparison of Clinical Effects of the Modified Masquelet Technique and Kirschner Wire External Fixation-Assisted Autogenous Bone Transplantation in the Treatment of Segmental Metacarpophalangeal Bone Defects.

OBJECTIVE: The present study aims to explore the (1) clinical effects of the modified Masquelet technique, whose improved Masquelet technique innovates the in vitro plasticity of the bone cement module and prefabricated hollow design, and the Kirschner wire external fixation-assisted autologous bone transplantation technique in the treatment of segmental metacarpophalangeal bone defects and (2) the differences between the two techniques. METHODS: The clinical data of 32 patients with segmental metacarpophalangeal bone defects (15 patients treated with the modified Masquelet technique and 17 patients treated with the self-made Kirschner wire external fixation technique) admitted to our department between January 2012 and January 2020 were retrospectively analyzed. The postoperative bone healing time, hand function, and complications were compared between the two groups. RESULTS: The two groups were comparable; there were no significant differences in age, sex, length of bone defect, and time from injury to operation between the two groups (P > 0.05). All patients were followed up with for 6-24 months (average = 13.7 months), and all patients with segmental metacarpophalangeal bone defects achieved fracture healing. The postoperative hospital stay, fracture healing time, functionary scores of the affected limb, and incidence of severe complications were better in the modified group than in the external fixation group (P < 0.05). CONCLUSION: Compared with the Kirschner wire external fixation stent assisted autologous bone transplantation, the improved Masquelet technique has the advantages of simple operation, fast healing, accurate effect, wide indications, and less complications, making it more worthy of clinical promotion.

Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.

BACKGROUND AND AIMS: Cleidocranial dysplasia (CCD) represents a rare autosomal dominant skeletal dysplasia caused by mutations that induce haploinsufficiency in RUNX2, the important transcription factor of osteoblasts related to bone/cartilage development and maintenance. Clavicular hypoplasia, which involves aberrant tooth/craniofacial bone/skeletal formation, is a feature of classic CCD. RUNX2 mutations can be found in approximately 60-70% of patients with CCD, and around ∼10% of these mutations are microdeletions. The present paper describes the radiological and clinical characteristics of a 5-year-old girl who showed representative CCD features, including extra teeth, aplasia of clavicles, sloping shoulders, marked calvarial hypomineralization, and osteoporosis. MATERIALS AND METHODS: We obtained genomic DNA of her family members and performed whole-genome sequencing (WGS) for samples collected from the proband. Quantitative fluorescent PCR (QF-PCR) and specific PCR plus electrophoresis were then performed as validation assays for all participants. In vitro analysis was performed. Luciferase assay for Runx2 transcription activity and evaluation of mRNA levels of Runx2 downstream osteogenic markers were conducted. RESULTS: WGS identified a 11.38-kb microdeletion in RUNX2 comprising 8-9 exons, which was validated by QF-PCR and specific PCR plus electrophoresis. In vitro experiments confirmed the pathogenicity of this variation. CONCLUSION: The present study identified a 11.38-kb microdeletion in RUNX2 that causes CCD. The deletion in the PST domain of RUNX2 reduces its transcription activity and reduces osteogenic marker levels, eventually decreasing the differentiation of osteoblasts. These findings clarify the role of the CCD-related mechanism in the development of CCD and suggest that it is important to consider copy number variation for the suspected familial patients early.

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

BACKGROUND: Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3 gene causes several types of arthrogryposis conditions and therefore has a pivotal role in the skeletal and muscle development of the fetus. For this study, we recruited a five-generation Chinese family with members presenting DA features and phenotypic variability. Further clinical study characterized it as CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). METHODS: Genomic DNA was extracted from eight family members, including one fetus. Whole-exome sequencing (WES) was then conducted on the proband's sample, followed by Sanger sequencing as validation for each of the participants. In silico analysis was performed. Western blotting (WB) detection and pathological staining were conducted on skeletal muscle tissue of the induced fetus after prenatal diagnosis. RESULTS: A novel heterozygous pathogenic variant, namely NM_002470.3: c.3044_3047delinsTCAATTTGTT: p.E1015_D1016delinsVNLF in the MYH3 gene, was identified and shown to be cosegregated with the condition in the subject family. This variant resulted in the replacement of amino-acid residues E1015 and D1016 by a string of VNLFs. The pregnancy was selectively terminated because the fetus was genetically affected. However, the WB and pathological results did not indicate a significant change in the norm. CONCLUSIONS: Our study expanded the variant spectrum of CPSFS1A, in addition to which it provided solid evidence for the appropriateness of genetic counseling and pregnancy management for the family. The results may also provide further insight into the molecular mechanism of MYH3.

Hydroxyapatite nanorod-assembled porous hollow polyhedra as drug/protein carriers.

Hydroxyapatite (HAP) with a porous hollow structure is an ideal biomaterial owing to its excellent biocompatibility and unique architecture. In this study, HAP nanorod-assembled porous hollow polyhedra, consisting of nanorod building blocks, have been successfully prepared at room temperature or under hydrothermal circumstances using a self-sacrificing Ca(OH)2 template strategy. The hydrothermal treatment (at 180°C for 1h) can promote the HAP nanorods to be arranged with their axial direction normal to the polyhedron surface. The HAP nanorod-assembled porous hollow polyhedra have been explored for the potential application in drug/protein delivery, using ibuprofen (IBU) as a model drug and hemoglobin (Hb) as a model protein. The experimental results indicate that the HAP nanorod-assembled porous hollow polyhedra have a relatively high drug loading capacity and protein adsorption ability, and sustained drug and protein release. The HAP nanorod-assembled porous hollow polyhedra have promising applications in various biomedical fields such as the drug and protein delivery.

An efficient multi-stage fermentation strategy for the production of microbial oil rich in arachidonic acid in Mortierella alpina.

BACKGROUND: Fungal morphology and aeration play a significant role in the growth process of Mortierella alpina. The production of microbial oil rich in arachidonic acid (ARA) in M. alpina was enhanced by using a multi-stage fermentation strategy which combined fed-batch culture with precise control of aeration and agitation rates at proper times. RESULTS: The fermentation period was divided into four stages according to the cultivation characteristics of M. alpina. The dissolved oxygen concentration was well suited for ARA biosynthesis. Moreover, the ultimate dry cell weight (DCW), lipid, and ARA yields obtained using this strategy reached 41.4, 22.2, 13.5 g/L, respectively. The respective values represent 14.8, 25.8, and 7.8% improvements over traditional fed-batch fermentation processes. CONCLUSIONS: This strategy provides promising control insights for the mass production of ARA-rich oil on an industrial scale. Pellet-like fungal morphology was transformed into rice-shaped particles which were beneficial for oxygen transfer and thus highly suitable for biomass accumulation.

Ligand Induced Anionic Cuprous Cyanide Framework for Cupric Ion Turn on Luminescence Sensing and Photocatalytic Degradation of Organic Dyes.

A new microporous luminescent coordination polymer [(CH3)2NH2]·[Cu2(CN)3] (1) with channels occupied by dimethylamine cations was synthesized due to the inducing effect of 2-(2'-pyridyl)imidazole. Complex 1 exhibits bright-green emission in the solid state, and its emission intensity would be significantly enhanced, especially by DMAc and cupric ion after immersing the as-synthesized crystals of 1 into common organic solvents or methanol solutions of various metal ions. In addition, 1 exhibits photocatalytic activity for the degradation of RhB and MB under natural light and is stable during the photocatalysis process. Thus, 1 can act as a multifunctional material for selectively sensing of Cu(2+) and effectively photocatalytic degradation of dyes.

Lipid Fraction and Intracellular Metabolite Analysis Reveal the Mechanism of Arachidonic Acid-Rich Oil Accumulation in the Aging Process of Mortierella alpina.

The mechanism of arachidonic acid (ARA) content increase during aging of Mortierella alpina was elucidated. Lipid fraction analysis showed that ARA content increased from 46.9% to 66.4% in the triacylglycerol (TAG) molecule, and ARA residue occupation increased in the majority of TAG molecules during the aging process. For the first time, intracellular metabolite analysis was conducted to reveal the pathways closely associated with ARA biosynthesis during aging. The main reason for the increased ARA content was not only at the expense of other fatty acids degradation but also at the expense of further ARA biosynthesis during aging. Furthermore, translocation played a vital role in ARA redistribution among the glycerol moiety, and mycelium did not die immediately with key pathways activated to maintain a relatively stable intracellular environment. This study lays a foundation for further improvement of ARA content in the oil product obtained from M. alpina.

Spontaneous symmetry breaking of Co(II) metal-organic frameworks from achiral precursors via asymmetrical crystallization.

The racemic conglomerate (1P-NH3 + 1M-NH3) and enantioenriched bulk samples (1P-H2O or 1M-NH3) of Co(II) metal­organic frameworks were obtained from achiral precursors under different solvothermal conditions. The bulk homochirality was generated through asymmetrical crystallization in the absence of any chiral additives confirmed by single crystal X-ray diffraction and CD spectroscopy.

Ulnar impaction syndrome with different operative methods: a comparative biomechanical study.

OBJECTIVE: Ulnar impaction syndrome seriously impairs wrist and hand function. Three main treatment procedures are available; however, little systematic research on the post-operation changes in wrist biomechanics currently exists. This study aimed to determine the long-term effects of these procedures and the optimal treatment methods for ulnar impaction syndrome. METHODS: Twenty-four cases of fresh upper limb specimens were randomized into four groups: (1) the control group, (2) the ulnar-shortening operation group, (3) the Sauvé-Kapandji procedure group (distal radioulnar arthrodesis and intentional distal ulnar pseudoarthrosis), and (4) the Darrach procedure group (distal ulna resection). After keeping the wrist in a neutral position, a pressure sensitive film was applied. Starting at 0 N, the load was increased gradually at a speed of 0.1 N/s until reaching 200 N and then maintained for 60 s by the CSS-44020 series biomechanical machine. Then, the pressure sensitive films from each group were measured, and the results were analyzed with SPSS software. RESULTS: The mean pressure and force on the ulna in the groups followed a decreasing trend from the control group, Sauvé-Kapandji procedure group and ulnar-shortening operation group. The mean pressure of the scaphoid fossa and the force on distal aspect of the radius in the groups followed an increasing trend from the control group, Sauvé-Kapandji procedure group, ulnar-shortening operation group and Darrach procedure group. This study found no significant differences in the mean pressure of the scaphoid fossa and the force on distal aspect of the radius between the Sauvé-Kapandji procedure group and the ulnar-shortening operation group. The Sauvé-Kapandji procedure group showed the greatest mean pressure on lunate fossa. CONCLUSIONS: In this comprehensive analysis of wrist biomechanics, the ulnar-shortening operation was superior to the Sauvé-Kapandji procedure and Darrach procedure, which adequately maintained the anatomical relationships of the wrist.

[Identification of atractylodis macrocephalae rhizoma and atractylodis rhizoma from their adulterants using DNA barcoding].

Atractylodis Macrocephalae Rhizoma and Atractylodis Rhizoma were widely used in strengthening spleen under different disease conditions, and were easily and often misused each other. Therefore, DNA barcode was used to distinguish Atractylodis Macrocephalae Rhizoma and Atractylodis Rhizoma from their adulterants to ensure the safe use. The sequence lengths of ITS2 of Atractylodes macrocephala, Atractylodis Rhizoma (A. lancea, A. japonica and A. coreana) were both 229 bp. Among the ITS2 sequences of A. macrocephala, only one G/C transversion was detected at site 98, and the average GC content was 69.42%. No variable site was detected in the ITS2 sequences of A. lancea. The maximum K2P intraspecific genetic distances of both A. japonica and A. coreana were 0.013. The maximum K2P intraspecific genetic distances of A. macrocephala, A. lancea, A. japonica and A. coreana were less than the minimum interspecific genetic distance of adulterants. The ITS2 sequences in each of these polytypic species were separated into pairs of divergent clusters in the NJ tree. DNA barcoding could be used as a fast and accurate identification method to distinguish Atractylodis Macrocephalae Rhizoma, Atractylodis Rhizoma, from their adulterants to ensure its safe use.

Modulation of argentophilic interactions by bridging amine ligands: photoluminescence tuneable by excitation energy or temperature.

A series of Ag(I) coordination oligomers with Ag-Ag distances tuned by amine auxiliary ligands were designed and synthesized. Their dual emissions could be adjusted by changing either excitation energy or temperature. The emission assignments were clarified by both experimental and DFT evidence herein.

Functional sensory function recovery of random-pattern abdominal skin flap in the repair of fingertip skin defects.

The fingertip skin defect is a common hand injury often accompanied by tendon or bone exposure, and is normally treated with flaps. The aim of this study was to evaluate the functional sensory recovery of random-pattern abdominal skin flap in the repair of fingertip cutaneous deficiency. A total of 23 patients, aged between 18 and 50 years (mean age, 31 years) with fingertip cutaneous deficiency (30 digits) were treated with random-pattern abdominal skin flaps. The post-debridement defect area measured from 0.7×1.2 to 2.5×3 cm. The flap pedicle was divided three weeks after surgery, which marked the onset of the second stage. A second surgery was performed on 2 patients after 3 months and on another set of 2 patients after 6 months to create a thinner flap. Tissue was dissected during surgery for a histological examination. All the flaps survived and the post-operative follow-up ranged from 2 weeks to 6 months. Patients were satisfied with the appearance of their fingers and the flaps. All flaps demonstrated satisfactory flexibility and texture and sensory recovery was achieved. Only 4 patients were subjected to a second surgery to make the flap thinner. The flaps for the 3-month tissue section had several low-density, free nerve endings, whereas those of the 6-month section had more intensive free nerve endings, nerve tracts, tactile cells and lamellar corpuscles. Random-pattern abdominal skin flap therefore repairs fingertip skin defects achieving sensory recovery.

Residues Lys-149 and Glu-153 switch the aminoacylation of tRNA(Trp) in Bacillus subtilis.

Tryptophanyl-tRNA synthetase (TrpRS) consists of two identical subunits that induce the cross-subunit binding mode of tRNA(Trp). It has been shown that eubacterial and eukaryotic TrpRSs cannot efficiently cross-aminoacylate the corresponding tRNA(Trp). Although the identity elements in tRNA(Trp) that confer the species-specific recognition have been identified, the corresponding elements in TrpRS have not yet been reported. In this study two residues, Lys-149 and Glu-153, were identified as being crucial for the accurate recognition of tRNA(Trp). These residues reside adjacent to the binding pocket for Trp-AMP and show phylogenic diversities in the charge on their side chains between eubacteria and eukaryotes. Single mutagenesis at Lys-149 or Glu-153 reduced the activity of TrpRS in the activation of Trp. The reduction was less than that caused by the double mutant WBHA (K149D/E153R). It is unusual that E153G had no detectable activity in the activation of Trp unless tRNA(Trp) was added to the reaction. In addition, we successfully switched the species specificity of Bacillus subtilis TrpRS recognition of tRNA(Trp). The affinity of WBHA, K149E and E153K to human tRNA(Trp) was 31-, 13.5-, and 12.9-fold greater than that of wild type B. subtilis TrpRS, respectively. Indeed WBHA and E153K were found to prefer genuine human tRNA(Trp) to their cognate eubacteria tRNA(Trp).