Guided biopsy of osseous pathologies in the jaw bone using a 3D-printed,tooth-supported drilling template

Suspicious radiological findings in the jaw bone require histopathological examination for the confirmation of a diagnosis. As pathologies in this region are difficult to reach or are in close proximity to relevant anatomical structures, e.g. tooth roots or nerves, they often represent a challenge. Such factors may adversely affect the predictability of the surgical outcome of a biopsy of the osseous tissues. This technical note introduces a novel method for performing a digitally planned, guided biopsy. For this purpose, a cone beam computed tomography scan and an intraoral scan are superimposed using specific planning software. The resulting three-dimensionally printed, tooth-supported drilling template is designed for a trephine biopsy. It allows a precise, minimally invasive approach, with an exact three-dimensional determination of the biopsy location prior to surgery. The risk of devitalization of the neighbouring teeth or possible damage to the nerve structures can be minimized. Furthermore, a small access flap can be sufficient. In summary, the method of bone biopsy presented here allows high precision and greater predictability for biopsy sampling and is minimally invasive for the patient.     

Plasma Circulating Tumor DNA and Clonal Hematopoiesis in Metastatic Renal Cell Carcinoma

BackgroundThere is a lack of molecularly-informed biomarkers for patients with metastatic renal cell carcinoma (RCC). Plasma cell-free DNA (cfDNA) sequencing is a minimally-invasive alternative to tissue for profiling the genome in other cancers but relevance in metastatic RCC remains unclear.Materials and MethodsWhole blood was collected from 55 patients with metastatic RCC. Plasma cfDNA and leukocyte DNA were subjected to targeted sequencing across 981 cancer genes. Matched tumor tissue from 14 patients was analyzed.ResultsThirty-three percent of patients had evidence for RCC-derived circulating tumor DNA (ctDNA), significantly lower than patients with metastatic prostate or bladder cancer analyzed using the same approach. Among ctDNA-positive patients, ctDNA fraction averaged only 3.9% and showed no strong association with clinical variables. In these patients, the most commonly mutated genes were VHL, BAP1, and PBRM1, and matched tissue concordance was 77%. Evidence of somatic expansions unrelated to RCC, such as clonal hematopoiesis of indeterminate potential, were detected in 43% of patients. Pathogenic germline mutations in DNA repair genes were detected in 11% of patients. CtDNA-positive patients had shorter overall survival and progression-free survival on first-line therapy. Patients with evidence of clonal hematopoiesis of indeterminate potential had an intermediate prognosis compared with ctDNA-positive and -negative patients.ConclusionsCfDNA sequencing enables straightforward characterization of the somatic RCC genome in a minority of patients with metastatic RCC. Owing to low ctDNA abundance, and the presence of non-RCC derived somatic clones in circulation, cfDNA sequencing may not be a simple pan-patient alternative to tissue biopsy in metastatic RCC.     

经支气管镜介入治疗气管支气管结核的效果

目的 探讨对气管支气管结核患者选择经支气管镜介入+抗结核药物治疗后获得的临床效果.方法 选择医院2017年3月—2019年4月收治的78例气管支气管结核患者作为试验对象;数字奇偶法分组后探究每组治疗方法;比照组(39例):选择抗结核药物展开疾病治疗;试验组(39例):选择经支气管镜介入+抗结核药物展开疾病治疗;最终就组间气管支气管结核组间治疗结果 差异展开对比.结果 试验组气管支气管结核患者治疗总有效率(97.44%)高于比照组(74.36%)明显(P<0.05).结论 气管支气管结核患者于临床接受经支气管镜介入+抗结核药物治疗后,利于结核疗效提升,可促进气管支气管结核患者康复进程缩短.     

A well-tolerated core needle muscle biopsy process suitable for children and adults

Serial muscle biopsies within clinical trials for Duchenne muscular dystrophy (DMD) are critical to document therapeutic responses. Less invasive means of sampling muscle are needed. We analyzed a retrospective consecutive case-series cohort of vacuum-assisted core needle muscle biopsy procedures performed on healthy and dystrophic individuals at a single institution assessing for safety and reliability of obtaining sufficient high-quality biopsy tissue for histologic assessment in adult and pediatric subjects. Of 471 muscle cores from 128 biopsy procedures, 377-550 mg of total muscle tissue was obtained per procedure with mean core weight of 129 mg (SD, 25.1 mg). All biopsies were adequate for histological assessment. There were no significant adverse events. This core needle biopsy approach, when combined with improved sample processing, provides a safe means to consistently obtain muscle samples for diagnostic and clinical trial applications.     

Cirugía mayor ambulatoria en patología mamaria

IntroductionThe use of ambulatory surgery (AS) for breast pathology (BP) has increased. The objective of this study is to analyse a group of patients treated surgically for breast pathology in order to evaluate its quality and security in a MAS setting in 2017.MethodsA retrospective review of all patients undergoing breast surgery was conducted within an AS programme from January to December 2017 in Consorcio Hospital General Universitario of Valencia (CHGUV). The study analysed the number of patients, exclusion reasons, type of surgical procedures, evolution of substitution rate (SR), rate and causes of conversion to admission, postoperative complications, motives for not being included in the ambulatory programme and the satisfaction rate of the patients treated with ambulatory surgery. This has been compared with a 2013 group.ResultsIn 2017, 396 procedures for BP were performed: 170 for benign and 226 for malignant disease. The SR for the global mammary pathology was 72.8%. The SR for benign pathology was 93.4% and the SR for malignant pathology was 57.2%, which has increased in recent years from 45.4% in 2013. The unexpected hospitalization rate (HR) of malignant pathologies was 14.1%, while the HR in benign pathologies was 0.6%. Patients hospitalized for malignant pathologies presented higher complications (17%) than ambulatory patients (8.5%) and benign pathologies (6.5%).ConclusionsAt the CHGUV, the SR has steadily increased in malignant pathologies. The unexpected hospitalization rate is determined by perioperative sentinel lymph node biopsy results. AS for the treatment of mammary pathology is efficient and safe.     

原发性肝淀粉样变1例报告并文献回顾

目的:报道1例原发性肝淀粉样变病例，提高该病的认识水平，减少误诊误治。方法:分析我院2015年03月诊治并经病理学确诊的肝淀粉样变1例，并结合国内外文献，对本病的临床表现、诊断、治疗及预后进行讨论分析。结果:患者临床表现为右上腹隐痛、腹胀、肝大；既往:1年前因脾破裂于我院肝胆外科行脾切除术；术后病理:（脾）内有较多出血，有血肿形成，周围脾白髓萎缩，红髓间质有玻璃样变性，符合陈旧性脾破裂伴血肿形成。肝功提示:碱性磷酸酶明显升高，白蛋白减低，球蛋白升高，肝脏CT示肝脏体积明显增大，肝脏实质强化不均匀，胆囊结石。肝穿刺组织病理活检:肝细胞索变性坏死，有炎细胞浸润，肝索内肝细胞间有粉染无结构物质，免疫组化染色结果:CD34(-)、刚果红染色(+)。结论:对肝淀粉样变缺乏诊治经验是该病误诊的原因之一，以腹痛、肝大为主要临床表现极易误诊为脂肪肝，肝硬化及原发性肝癌。当临床上遇到肝脏肿大明显伴碱性磷酸酶明显升高且与其他肝功生化指标变化不平行时，尤其合并多器官受累表现者，须警惕肝淀粉样变的可能，确诊的惟一方法是肝穿刺行组织病理检查，但应注意出血等并发症。     

Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

BACKGROUNDNeuronal intranuclear inclusion disease (NIID) is an unusual autosomal dominant, chronic progressive neurodegenerative disease. The clinical manifestations of NIID are complex and varied, complicating its clinical diagnosis. To the best of our knowledge, this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis (AC) that was finally diagnosed by imaging studies, skin biopsy, and genetic testing.CASE SUMMARYA 63-year-old man presented with fever, gait unsteadiness, dysarthria, and an episode of convulsion. His serum levels of white blood cells and C-reactive protein were significantly elevated. T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis. While we initially considered a diagnosis of AC, the patient’s symptoms improved significantly without special treatment, prompting our consideration of NIID. Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction. Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells. GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID. CONCLUSIONFor patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations.