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Dual Cancer in a Patient with Type 1 Gaucher Disease: Case Report and Literature Review 1型戈谢病双癌1例报告及文献复习
Pub Date : 2021-10-01 DOI: 10.35995/TMJ20210202
A. Popa, Patricia Lupulescu, N. Iacob, R. Șirli
Gaucher Disease (GD) is a rare inherited lysosomal storage disease caused by biallelic mutations in the gene encoding the lysosomal enzyme acid β-glucocerebrosidase, with progressive accumulation of the sphingolipid glucosylceramide in the lysosomes of macrophages, mainly in the liver, spleen, bone, and bone marrow. It is characterized by anemia, thrombocytopenia, hepatosplenomegaly, sometimes severe bone involvement and, in certain forms, neurological involvement. We present the case of a 77-year-old male, diagnosed in 2006, at 63, with GD type1. At the onset, the patient presented fatigue, asthenia, upper abdominal discomfort, skin pallor and minor bone pain. During follow-up, CT was performed and displayed an enlarged spleen (25 cm) and a well-defined mass in the kidney cortex, but it could not establish whether it was malignant or not. Considering the patient refused surgery at that moment, a new CT exam was performed six months later, and the kidney tumor significantly increased in size. Nephrectomy and necessity splenectomy were performed, and recovery was uneventful. The histopathological examination revealed clear cell renal cell carcinoma, grade 2 Fuhrman. Enzyme substitution therapy with Imiglucerasum was initiated in 2012 with favorable evolution. Seven years later, during a routine ultrasound follow-up, a 4/3.8 cm hyperechoic mass was found in the eighth liver segment. The biological tests revealed a high value of alpha-fetoprotein (AFP-185.2 ng/mL). Considering the patient’s history, possible diagnoses of the newly found focal liver lesion were: gaucheroma, metastasis secondary to kidney cancer, or a primitive liver tumor. Core biopsy was performed, and it was suggestive of a poorly differentiated hepatocellular carcinoma G3. A non-anatomical resection of liver segments VII and VIII with partial resection of inferior vena cava was performed, followed by full post-operative recovery. A histopathological examination confirmed the initial diagnosis. Currently, one month postoperatively, the patient in good clinical condition, continues the enzyme replacement treatment and is undergoing oncological follow-up. We presented a complex case of GD, diagnosed at an advanced age, who responded well to substitution therapy in regard to hematologic and bone symptoms, but who unfortunately developed two types of cancer managed aggressively despite the advanced age.
戈谢病(Gaucher Disease, GD)是一种罕见的遗传性溶酶体贮积病,由编码溶酶体酶酸β-葡萄糖脑苷酶的基因双等位基因突变引起,以巨噬细胞溶酶体中鞘脂糖神经酰胺进行性积累为主,主要见于肝、脾、骨和骨髓。其特点是贫血、血小板减少、肝脾肿大,有时严重累及骨骼,在某些形式下累及神经系统。我们报告一例77岁男性,2006年确诊为GD 1型,时年63岁。发病时,患者表现为疲劳、乏力、上腹部不适、皮肤苍白、轻微骨痛。随访时行CT示脾肿大(25cm),肾皮质有明显肿块,但不能确定是否为恶性。考虑到患者当时拒绝手术,6个月后复查CT,发现肾肿瘤明显增大。患者行肾切除术及脾切除术,恢复顺利。组织病理检查示透明细胞肾细胞癌,Fuhrman 2级。Imiglucerasum的酶替代疗法于2012年启动,并取得了良好的进展。7年后,在常规超声随访中,在肝脏第八节发现一个4/3.8 cm高回声肿块。生物学检测显示甲胎蛋白含量高(AFP-185.2 ng/mL)。考虑到患者的病史,新发现的局灶性肝脏病变的可能诊断为:gaucheroma,继发于肾癌的转移,或原发性肝脏肿瘤。行核心活检,提示低分化肝细胞癌G3。非解剖切除肝第七、八节段,部分切除下腔静脉,术后完全恢复。组织病理学检查证实了最初的诊断。目前,术后1个月,患者临床状况良好,继续进行酶替代治疗,正在进行肿瘤随访。我们提出了一个复杂的GD病例,诊断在高龄,谁对替代治疗的血液和骨骼症状反应良好,但不幸的是,谁发展了两种类型的癌症积极管理,尽管高龄。
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引用次数: 1
Effectiveness of Platelet-Rich Fibrin (PRF) Following Mandibular Third Molar Extraction: A Systematic Review 富血小板纤维蛋白(PRF)在下颌第三磨牙拔牙后的有效性:一项系统综述
Pub Date : 2021-08-01 DOI: 10.35995/TMJ20210105
A. Rahman, Tamiral Jannat
(1) Purpose: The employment of platelet-rich fibrin (PRF) in the extracted teeth socket has been shown to aid tissue healing. It also minimizes detrimental consequences. The rationale of this systematic review is to observe the possible association between PRF employment and postoperative consequences following mandibular third molar surgery. (2) Materials and Methods: The following databases were explored electronically (till 28 February 2021): PubMed, Cochrane library, Embase, International Clinical Trials Registry Platform (ICTRP), and ClinicalTrials.gov. A manual explore was accomplished on various journals regarding the subject of oral and maxillofacial surgery. The online explore applied the keywords “platelet-rich fibrin or PRF,” and “mandibular third molar.” To review the efficiency of PRF, the accompanying post-operative consequences were collected: pain, swelling, trismus, inter-incisal distance, analgesic consumption, soft tissue healing, bone healing, socket complications, and periodontal parameters. (3) Results: Just 9 full-text studies out of 26 were comprised of review for qualitative analysis. All of the studies were randomized clinical trials (RCTs), with eight split-mouth designs and one parallel design study. Significant outcomes were usually observed for pain, postoperative swelling, mouth opening, periodontal pocket depth, soft tissue healing, and the incidence of alveolar osteitis or dry sockets, but not constantly. The qualitative scrutiny disclosed that the PRF had no considerable outcome in bone healing. (4) Conclusions: Local administration of PRF is a practical way of alleviating pain, trismus, oedema, and enhancing soft tissue healing following mandibular third molar extraction. PRF tends to have no function in bone healing following extraction. More controlled clinical trials and RCTs are necessitating exploring the end results of PRF following mandibular third molar extraction.
(1)目的:富血小板纤维蛋白(PRF)在拔牙槽内的应用已被证明有助于组织愈合。它还能最大限度地减少有害后果。本系统综述的基本原理是观察PRF的使用与下颌第三磨牙手术后的术后后果之间可能的关联。(2)材料和方法:电子检索以下数据库(截至2021年2月28日):PubMed、Cochrane图书馆、Embase、国际临床试验注册平台(ICTRP)和ClinicalTrials.gov。手工探索完成了各种期刊关于口腔颌面外科的主题。在线搜索应用了关键词“富血小板纤维蛋白或PRF”和“下颌第三磨牙”。为了回顾PRF的有效性,我们收集了术后伴随的后果:疼痛、肿胀、牙关、切间距离、镇痛消耗、软组织愈合、骨愈合、窝窝并发症和牙周参数。(3)结果:26篇全文研究中仅有9篇纳入综述进行定性分析。所有研究均为随机临床试验(rct),其中8项裂口设计和1项平行设计研究。通常在疼痛、术后肿胀、开口、牙周袋深度、软组织愈合、牙槽骨炎或干槽发生率等方面观察到显著的结果,但并不总是如此。定性审查表明,PRF在骨愈合方面没有显著的效果。(4)结论:局部应用PRF是缓解下颌第三磨牙拔牙后疼痛、牙关、水肿和促进软组织愈合的一种实用方法。PRF在拔牙后的骨愈合中往往没有作用。需要更多的对照临床试验和随机对照试验来探索下颌第三磨牙拔除后PRF的最终结果。
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引用次数: 0
Analysis of Romanian National Publication Output in Orthopedics 罗马尼亚国家骨科出版物产量分析
Pub Date : 2021-07-01 DOI: 10.35995/TMJ20210104
M. Niculescu, T. Bataga, D. Anușca, Manuel-Paul Sava, N. Gheorghiu
(1) Aim: To analyze the publication output from Romania in the Web of Science (WoS) category of orthopedics. (2) Methods: We have used the WoS Core Collection Advanced Search between 2009 and 2018. (3) Results: Under the WoS Orthopedics category in SCI-Expanded, we found 72 articles with Romania as the country of origin, representing 0.105% of the total Romanian research output. Using journal rankings, distribution by quartile was: 1–12 (16.7%), 2–33 (45.8%), 3–9 (12.5%) and 4–18 (25%). Average citations in total and per year by category were: 1–22.6 range 1–91 (2.56), 2–8.85 range 0–30 (1.64), 3–8.44 range 1–30 (1.25), and 4–4.11 range 0–16 (0.74). Thirteen articles published from 1986 to 2008 were excluded by limiting the timespan. When searching for all document types and all WoS core collection citation indexes, we found 107 items; the total citations increased from 714 to 806. (4) Conclusions: Orthopedic publications from Romania have increased in the last decade, but are still low compared to category averages; however, the bibliometric qualitative distribution and patterns mostly resemble that of comparators.
(1)目的:分析罗马尼亚在Web of Science (WoS)骨科类期刊上的发表量。(2)方法:采用2009 - 2018年WoS核心馆藏高级检索。(3)结果:SCI-Expanded的WoS骨科分类中,以罗马尼亚为原产国的文献有72篇,占罗马尼亚研究总产出的0.105%。采用期刊排名,四分位数分布分别为:1-12(16.7%)、2-33(45.8%)、3-9(12.5%)和4-18(25%)。总平均引用数和年平均引用数分别为:1-22.6区间1-91(2.56),2-8.85区间0-30(1.64),3-8.44区间1-30(1.25),4-4.11区间0-16(0.74)。由于时间跨度的限制,排除了1986年至2008年期间发表的13篇文章。检索所有文献类型和所有WoS核心馆藏引文索引,共检索到107项;总引用数从714次增加到806次。(4)结论:罗马尼亚骨科出版物在过去十年中有所增加,但与类别平均水平相比仍然较低;然而,文献计量学的定性分布和模式大多类似于比较国。
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引用次数: 0
A Disease in Search for a Biomarker: MicroRNAs in Parkinson’s Disease 寻找生物标志物的疾病:帕金森病的microrna
Pub Date : 2021-06-01 DOI: 10.35995/TMJ20210102
A. Chiş, A. Moatăr, I. Sîrbu
This review discusses the current research data on using microRNAs as biomarkers for the diagnostics and screening of Parkinson’s Disease (PD). We provide a comprehensive, critical analysis of the overwhelmingly diverse data on circulant microRNAs associated with PD. We also highlight the possible underlying molecular pathogenesis-related circulant microRNAs in the context of the natural history of PD.
本文综述了利用microrna作为帕金森病(PD)诊断和筛查生物标志物的研究进展。我们提供了一个全面的,批判性的分析与PD相关的循环microrna的压倒性多样化的数据。我们还强调了在PD的自然史背景下可能潜在的与分子发病相关的循环microrna。
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引用次数: 0
Is There a Place for Elastography in the Assessment of Chronic Kidney Disease? 弹性成像在慢性肾脏疾病的评估中有一席之地吗?
Pub Date : 2021-06-01 DOI: 10.35995/TMJ20210103
F. Bob
Renal elastography is a real-time ultrasound-based imaging method that can potentially be used in order to assess diffuse diseases of native kidneys. In order to find a place in the clinical practice for renal elastography, what is influencing the obtained results should be known. The kidney shear wave speed is influenced by different factors such as age, gender, measurement depth or urinary pressure. The relationship with renal function and also with renal fibrosis is different across different studies, with not all studies showing an increase in renal stiffness in more advanced renal diseases. However, the changes in renal blood flow seem to influence renal elastography, and a decrease in renal blood flow could be the cause of the decrease in the shear wave speed and could have a bigger influence on elastography compared to renal fibrosis. This paper provides a summary about the factors that seem to influence renal elastography and also regarding the limitations of this method according to the published studies thus far.
肾脏弹性成像是一种实时超声成像方法,可用于评估肾脏弥漫性疾病。了解影响肾弹性成像结果的因素,才能在临床中占有一席之地。肾横波速度受年龄、性别、测量深度、尿压等因素的影响。在不同的研究中,与肾功能和肾纤维化的关系是不同的,并不是所有的研究都表明,在更晚期的肾脏疾病中,肾脏僵硬度增加。然而,肾血流的变化似乎影响肾弹性成像,肾血流的减少可能是横波速度降低的原因,与肾纤维化相比,对弹性成像的影响可能更大。本文综述了影响肾弹性成像的因素,并根据目前已发表的研究对该方法的局限性进行了讨论。
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引用次数: 0
Parents’ Knowledge and Behavior Regarding Fluoride Use for Their Children 家长对子女使用氟化物的知识和行为
Pub Date : 2021-05-01 DOI: 10.35995/TMJ20210101
Mariana Cărămidă, M. Dumitrache, I. Parlatescu, C. Pîrvu, L. Tribuș
(1) Background: Parents need an increased level of awareness regarding the role of fluoride in maintaining optimal oral health of their children. This cross-sectional study aimed to assess the level of parents’ knowledge and behavior towards fluoride administration in children. (2) Methods: an online self-administered Google Forms questionnaire was used. (3) Results: 73.97% did not administer fluoride products to their children. From 16 parents who have given their child local fluoride products, 15.06% made it on the recommendation of the dentist. In total, 71.23% did not know exactly the importance of using fluoride for optimal oral health of the child. In total, 63.01% did not know the possible side effects of excess fluoride. (4) Conclusions: The dentist has an important role to educate the parents and also their children on the appropriate use of fluoride at home and in dental offices, explaining to them the benefits it brings for optimal oral health status and to motivate patients for adequate oral hygiene, proper diet and regular check-ups.
(1)背景:家长需要提高对氟化物在保持孩子口腔健康中的作用的认识。本横断面研究旨在评估家长对儿童氟管理的知识和行为水平。(2)方法:采用在线自填式Google Forms问卷。(3)结果:73.97%的家长没有给孩子使用氟化物产品。在16名曾给孩子服用本地氟化物产品的家长中,15.06%是根据牙医的建议服用氟化物产品的。总的来说,71.23%的人不知道使用氟化物对儿童口腔健康的重要性。总共有63.01%的人不知道过量氟化物可能产生的副作用。(4)结论:在家庭和牙科诊所教育家长及其子女正确使用氟化物,向他们解释氟化物对最佳口腔健康状况的好处,并激励患者保持良好的口腔卫生,合理饮食和定期检查。
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引用次数: 0
Analysis of the Variability of the Pharmacokinetics of the Long Half-Life Drug Amiodarone in Bioequivalence Studies 长半衰期药物胺碘酮在生物等效性研究中的药代动力学变异性分析
Pub Date : 2021-03-01 DOI: 10.35995/TMJ20200210
Maytham Razaq Shleghm, I. Mircioiu, Valentina Anuța, C. Mircioiu, Roxana Sandulovici
The article provides an extensive analysis of the data obtained in bioequivalence studies, which can be considered for further evaluation in the development of general and individual therapeutic regimens. Concrete data obtained in two bioequivalence studies compared amiodarone formulations and included plasma levels of amiodarone and the active metabolite desethylamiodarone. The analysis included mean data and variability in plasma concentrations and pharmacokinetic parameters. In addition, a global and structural meta-analysis of the individual plasma level sets was performed. The half-life of amiodarone was not well defined and the total area below the plasma level curves was less appropriate for estimating bioequivalence.
本文对生物等效性研究中获得的数据进行了广泛的分析,可以考虑在制定一般和个别治疗方案时进行进一步评估。在两项生物等效性研究中获得的具体数据比较了胺碘酮制剂,包括胺碘酮和活性代谢物去乙基胺碘酮的血浆水平。分析包括平均数据和血浆浓度和药代动力学参数的变异性。此外,还进行了个体血浆水平集的整体和结构荟萃分析。胺碘酮的半衰期没有很好的定义,血浆水平曲线下的总面积不太适合估计生物等效性。
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引用次数: 0
Giant Hepatic Hydatid Cyst with Retroperitoneal Development—Management of Liver Hydatidosis 巨大肝包虫病伴腹膜后发育-肝包虫病的治疗
Pub Date : 2021-02-01 DOI: 10.35995/TMJ20200209
M. Murariu, S. Pop, Sorin Olariu
(1) Background: Infection with Echinococcus granulosus is the cause of hydatid cysts located frequently in the liver and lungs, but also in the kidneys, bones, spleen, brain and muscles. Cystic echinococcosis is sometimes complicated to treat, requiring radical surgery and prolonged medication. The hydatid cyst in the retroperitoneal space is frequently asymptomatic, unless it grows and produces symptoms caused by high intracystic pressure, secondary infection, wall breaking and allergy. (2) Case Report: We present the case of a 47-year old male patient, admitted for a giant bilobed retroperitoneal hydatid cyst. Following diagnosis, the patient was operated on using an anterior midline abdominal approach. The cyst was inactivated, the contents were evacuated and the cavity was drained and cleaned by opening the cyst in the middle area and at its lower pole, respectively. Subsequently, the cyst required re-installation of the drain. The evolution of the case was finally favorable but confirmed that the postoperative evolution of large hydatid cysts can be unexpected and even followed by complications. (3) Conclusions: For the presented case, the classic surgical method was the appropriate choice, considering the large size of the hydatid cyst. Bilobed cysts and those with calcified walls may cause problems with the spontaneous closing of the remaining cavity. For complicated cysts, the treatment is radical or conservative surgery, while for uncomplicated cysts, minimally invasive treatment is an appropriate choice.
(1)背景:细粒棘球绦虫感染是造成包虫囊肿的原因,包虫囊肿多见于肝、肺,也见于肾、骨、脾、脑和肌肉。囊性包虫病有时治疗起来很复杂,需要根治性手术和长期药物治疗。腹膜后间隙的包虫囊肿通常是无症状的,除非它生长并产生由囊内高压、继发感染、破壁和过敏引起的症状。(2)病例报告:我们报告一例47岁男性患者,因巨大的双叶腹膜后包虫囊肿而入院。诊断后,患者采用腹前中线入路手术。灭活囊肿,排出内容物,分别在中间和下极打开囊肿,排干和清洁腔体。随后,囊肿需要重新安装引流管。病例的发展最终是有利的,但证实了术后大包囊的发展可能是意想不到的,甚至随之而来的并发症。(3)结论:考虑到包虫体积较大,经典手术方法是本病例的合适选择。双叶囊肿和壁钙化的囊肿可能会导致剩余腔的自动关闭。对于复杂的囊肿,可采取根治性或保守性手术治疗,而对于不复杂的囊肿,可选择微创治疗。
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引用次数: 0
Meniscal Root Tears—The Crippling Epidemic. Case Report and Literature Review 半月板根部撕裂——致残流行病病例报告及文献复习
Pub Date : 2021-02-01 DOI: 10.35995/TMJ20200205
D. Crisan, D. Vermeşan, R. Prejbeanu, B. Deleanu, Sorin Craioveanu
(1) Background: Meniscal lesions are one of the most prevalent pathologies in orthopedics; meniscal root tears have been recognized as a specific subset with poor mid- to long-term results after standard treatment options (observation, physical therapy, arthroscopic partial meniscectomy) and frequent progression to osteoarthritis. Meniscal root repair has emerged as a new technique with promising results. We present a case report and review the current literature regarding the diagnosis, indications to repair, current techniques, alternatives and expected outcomes. (2) Case report: A 49-year-old woman, with a body mass index of 30 and no significant comorbidities or history of trauma, involved in moderate to heavy physical activity, presented with left knee pain at the internal meniscal line, which worsened over the last 4 months, despite an intra-articular steroid shot. Based on the magnetic resonance imaging (MRI), she was diagnosed with a type 2 medial meniscus posterior root tear and moderate internal compartment chondropathy (Outerbridge 2). She underwent side-to-side repair of the meniscal lesion and reattachment of the root through a bone tunnel over a button. Postoperatively, she was non-weight-bearing (NWB) for 6 weeks and with the knee immobilized at 30° of flexion. At 6 months’ follow-up, the patient was fully ambulant without crutches, with active knee flexion between 0° and 130°. (3) Conclusion: Meniscal root repair is reasonably accessible. It may provide additional benefits over current treatment options when used judiciously and with an adequate surgical technique.
(1)背景:半月板病变是骨科最常见的病变之一;半月板根撕裂被认为是标准治疗方案(观察、物理治疗、关节镜下半月板部分切除术)后中长期效果较差且经常进展为骨关节炎的一个特定子集。半月板牙根修复是一项具有良好效果的新技术。我们提出了一份病例报告,并回顾了目前关于诊断、修复指征、当前技术、替代方案和预期结果的文献。(2)病例报告:一名49岁女性,体重指数为30,无明显合并症或创伤史,参与中度至重度体育活动,表现为左膝半月板内线疼痛,尽管关节内注射类固醇,但在过去4个月内病情恶化。根据磁共振成像(MRI),她被诊断为2型内侧半月板后根撕裂和中度内腔室软骨病(Outerbridge 2)。她接受了半月板病变的侧对侧修复,并通过骨隧道在一个按钮上重新附着半月板根。术后患者无负重(NWB) 6周,膝关节屈曲30°固定。随访6个月时,患者无需拐杖即可完全行走,膝关节活动度在0°至130°之间。(3)结论:半月板牙根修复是可行的。如果使用得当并配合适当的手术技术,它可能比目前的治疗方案提供更多的好处。
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引用次数: 0
Long Non-Coding RNAs in Plasma and Urine as Potential Biomarkers in Prostate Cancer 血浆和尿液中的长链非编码rna作为前列腺癌的潜在生物标志物
Pub Date : 2021-02-01 DOI: 10.35995/TMJ20200206
Ionuț Andrei Păunescu, R. Bardan, B. Petrut, O. Bălăcescu, A. Cumpănaş, A. Dema, A. Marcu, C. Marian, E. Seclaman, I. Sîrbu
(1) Introduction: Prostate cancer is the second leading cause of cancer-related death in men in developed countries. Due to the existing biomarkers’ limitations, there is a stringent need to develop novel, better non-invasive markers for prostate cancer diagnostic and monitoring. (2) Material and methods: We assessed, by real-time PCR, the expression level of 84 long non-coding RNA (lncRNA) in plasma and the exosomes isolated from prostate cancer patients’ plasma and urine. (3) Results: Only a few lncRNAs were detected in high abundance (Ct between 25 and 30 cycles) across all sample types, the vast majority showing relatively modest levels (Ct > 30 cycles). As expected, plasma and plasma exosomes contain far more lncRNA species than urine, irrespective of whether they originate from patients or controls. We identified two statistically significant dysregulated lncRNAs in prostate cancer samples vs. controls: RBM5-AS1, 2.89 times downregulated in plasma (p = 0.036), and SNHG16, 13.69 times upregulated (p = 0.029) in urine exosomes. (4) Conclusions: These preliminary data need further validation in additional independent, more extensive studies before they can be considered as biomarkers for prostate cancer.
(1)引言:前列腺癌是发达国家男性癌症相关死亡的第二大原因。由于现有生物标志物的局限性,迫切需要开发新的、更好的非侵入性前列腺癌诊断和监测标志物。(2)材料与方法:采用real-time PCR技术检测84种长链非编码RNA (lncRNA)在前列腺癌患者血浆和尿液外泌体中的表达水平。(3)结果:在所有样品类型中,只有少数lncrna检测到高丰度(Ct在25到30个循环之间),绝大多数显示相对适度的水平(Ct在50到30个循环之间)。正如预期的那样,血浆和血浆外泌体比尿液含有更多的lncRNA种类,无论它们是来自患者还是对照组。我们在前列腺癌样本中发现了两种具有统计学意义的失调lncRNAs: RBM5-AS1在血浆中下调2.89倍(p = 0.036), SNHG16在尿外泌体中上调13.69倍(p = 0.029)。(4)结论:这些初步数据需要在其他独立的、更广泛的研究中进一步验证,才能被认为是前列腺癌的生物标志物。
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引用次数: 0
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Timisoara Medical Journal
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