“One-piece” patient-specific reconstruction plate for double-barrel fibula-based mandibular reconstruction

Segmental mandibular defects require reconstruction. The fibula flap serves as a versatile flap in restoring mandibular contour and bony height. With the advances in computer-aided design and additive manufacturing technology, an innovative “one-piece” patient-specific reconstruction plate to facilitate double-barrel fibula flap shaping and bone securing was developed; the plate is described in this study. The “one-piece” plate is fabricated with individualized specifications and is mainly composed of three components: the long-bar reconstruction plate, a short-bar plate, and connecting bars. Our initial experiences showed that mandibular reconstructive surgery was greatly facilitated by the “one-piece” reconstruction plate for double-barrel fibula flap reconstruction and achieved satisfactory outcomes. A well-designed clinical trial is required to confirm the superiority of the “one-piece” reconstruction plate in the future. ClinicalTrials.gov registration: NCT03057223.     

胃肠道间质瘤诊断方法的研究进展

胃肠道间质瘤（gastrointestinal stromal tumor，GIST）是起源于胃肠道间叶组织的肿瘤，由于GIST存在恶性潜能，且多数GIST患者无明显临床症状，所以GIST的早期发现、诊断和治疗显得尤为重要。GIST通常在内窥镜、超声内镜（endoscopic ultrasound，EUS）检查中发现。GIST的诊断取决于形态学和免疫组织化学染色，因此组织样本的充足性是其关键。近年来，新的成像技术的应用和分子生物学的发展提高了GIST的诊断准确率，并为GIST的预后及辅助治疗提供了依据。     

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2-year-old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c.34G>A; p.Gly12Ser) was identified in his affected scalp and hair follicle specimens. This is the first reported WHN type 1 (no cutaneous involvement) patient caused by somatic HRAS mutation. The other individual was a 12-year-old girl with CS caused by germline HRAS mutation (c.34G>A), that manifested with coarse face, palmoplantar keratoderma, deep palmar and plantar creases, hyperpigmented patches, asymmetry and deformity of lower limbs, atopic dermatitis, as well as mental retardation. Of note, a linear hyperpigmented plaque was observed in her father’s lumbosacral region. Although the father refused to provide semen and skin tissue for further examination, this reminds us of possible mosaicism in parents of individuals with germline de novo HRAS mutation and underlines the importance of parental evaluation for prenatal counseling.     

Guía de práctica clínica 2021 para la detección temprana,el diagnóstico,el tratamiento y el seguimiento de los pacientes con espondiloartritis axial. Asociación Colombiana de Reumatología

BackgroundAxial spondyloarthritis is a rheumatic condition affecting young patients with social and occupational consequences. Diagnosis delay is associated with functional impairment and impact on quality of life, requiring a multidisciplinary approach.ObjectiveTo develop a set of recommendations based on the best available evidence for the early detection, diagnosis, treatment, and monitoring of adult patients with axial spondyloarthritis.MethodsA working group was established, questions were developed, outcomes were graded, and a systematic search for evidence was conducted. A multidisciplinary panel of members was established (including patient representatives), minimizing bias in relation to conflicts of interest. The GRADE approach Grading of Recommendations Assessment, Development and Evaluation was used to assess the quality of the evidence as well as the direction and strength of recommendations. In total, 11 recommendations on diagnosis (n=2), pharmacological treatment (n=6), non-pharmacological treatment (n=2) and monitoring (n=1) are presented.ResultsSacroiliac joint radiography as the first diagnostic method, and the use of disease activity scales for patient monitoring (ASDAS or BASDAI), are recommended. Nonsteroidal anti-inflammatory drugs are the first treatment option; in case of intolerance or residual pain, acetaminophen or opioids are recommended. In patients with axial involvement, it is recommended not to use conventional disease-modifying antirheumatic drugs or systemic or local glucocorticoids. In patients with failure to non-steroidal anti-inflammatory drugs, anti-TNF or anti-IL17A is recommended. In those patients presenting with anti-TNF failure, starting an anti-IL17A is recommended. Exercise, physical and occupational therapy are recommended as part of treatment. It is recommended not to use unconventional therapies as the only treatment option.ConclusionsThis set of recommendations provides an updated guideline for the diagnosis, treatment, and monitoring of patients with axial spondyloarthritis.     

Influence of the Intracanal Material and Metal Artifact Reduction Tool in the Detection of the Second Mesiobuccal Canal in Cone-beam Computed Tomographic Examinations

IntroductionThe aim of this study was to evaluate the influence of different intracanal materials and the metallic artifact reduction (MAR) tool of cone-beam computed tomographic (CBCT) imaging on the detection of the second mesiobuccal (MB2) canal in maxillary first molars.MethodsForty maxillary first molars were selected; half of them had the MB2 canal in the mesiobuccal root confirmed by micro–computed tomographic imaging. All teeth were instrumented, except for the MB2 canal, and filled with gutta-percha, which was passively inserted up to the working length. Each tooth was individually inserted into a dry human skull, and CBCT scans were performed using the OP300 device (Instrumentarium Dental, Tuusula, Finland) with and without the use of the MAR tool. For each scanned tooth, the following intracanal materials were used in the palatal root: gutta-percha, silver palladium, nickel chromium, and cobalt chromium. Five examiners assessed the images for the detection of the MB2 canal using a 5-point scale. The weighted kappa test was applied to evaluate intra- and interexaminer reproducibility. The diagnostic values (sensitivity, specificity, and area under the receiver operating characteristic curve) were calculated in the different groups and compared using 2-way analysis of variance and the Tukey post hoc test.ResultsThe intra- and interobserver agreement ranges for the different conditions were studied. The diagnostic values were not significantly different (P > .05) regardless of the intracanal material and the use of the MAR tool.ConclusionsThe presence of different intracanal materials and MAR activation does not influence CBCT-based detection of MB2 canals.     

单基因青光眼的临床实践指南

青光眼(glaucoma)是一组视网膜神经节细胞及其轴突变性的进行性视神经病,其典型临床特征为视乳头凹陷性萎缩和特征性视野缺损,遗传因素在其发病过程中起着重要作用。本指南主要介绍单基因变异相关的青光眼,包括原发性先天性青光眼(primary congenital glaucom a,PCG)和原发性开角型青光眼(primary open-angle glaucoma,POAG)的致病基因、疾病诊断以及临床咨询等方面,旨在规范单基因青光眼临床分子遗传诊疗,为临床医生对单基因青光眼诊治和遗传咨询服务提供参考。     

早产的诊治现状和面临的问题

近20年来，我国为降低早产发病率，改善早产儿结局不懈努力，取得了令人瞩目的成就，但由于中国人口基数庞大，早产的数量仍不容小觑。加之早产和分娩启动的机制至今仍未完全阐明，区域内早产诊疗水平和早产儿救治水平存在较大差异，在一定程度上制约了早产诊治水平的提高。对我国围产医学工作者而言，进一步降低早产率，改善早产儿远、近期结局，依旧任重而道远。