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Use of Marsupialization as a Definitive Treatment for Large-sized Dentigerous Cysts in a Patient with Mucopolysaccharidosis Type I. 使用髓核摘除术彻底治疗一名 I 型黏多醣症患者的大型齿槽囊肿
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.22
Pedro Henrique Moraes de Menezes, Maria Clara Corrêa de Almeida Teixeira, Cleone de Fátima Oliveira Neder Fernandes, Marden Oliveira Bastos, Marina Reis Oliveira, Ronaldo Celio Mariano

The correct diagnosis is fundamental for the appropriate treatment to be employed in a particular pathology. The best treatment is not the one that solves only local problems, fragmenting the patient, and therefore, it is necessary to integrate the entire systemic condition of the individual before initiating any local treatment. This context inevitably requires dentistry to participate in a multidisciplinary approach, where the role of the dentist is expanded in concepts that encompass ethics, human dignity, and professional valorization. This article describes a clinical case of a patient with mucopolysaccharidosis type I, whose treatment of cystic lesions present in the mandible was exclusively performed through marsupialisation. The objective of this study is to demonstrate, within the complexity of this rare syndrome, the difficulties of diagnosis and the need for evaluation of the patient beyond the limits of the oral cavity, as well as to report two cases of large dentigerous cysts, surgically treated conservatively through marsupialisation, without the need for re-approach for enucleation and without recurrences over a 20-year period.

正确的诊断是对特定病症采取适当治疗的基础。最好的治疗方法并不是只解决局部问题、使病人支离破碎的治疗方法,因此,在开始任何局部治疗之前,有必要综合考虑个人的整个系统状况。在这种情况下,牙科不可避免地需要参与到多学科的治疗方法中,牙医的角色在包含伦理、人类尊严和专业价值的概念中得到了扩展。本文描述了一例 I 型粘多糖病患者的临床病例,该患者的下颌骨囊性病变完全是通过髓鞘化术进行治疗的。本研究的目的是证明这种罕见综合征的复杂性、诊断的困难性以及对患者进行口腔范围以外评估的必要性,并报告两例通过髓内埋植术进行保守治疗的巨大齿槽囊肿病例,患者在 20 年的时间里无需再次进行髓内埋植术,也没有复发。
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引用次数: 0
Unveiling a Silent Obstructor: Phytobezoar in the Third Duodenal Segment. 揭开无声障碍者的面纱:第三段十二指肠中的植物虫。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.13
Ana Fernanda Muñoz Durán, Juan Alberto Llanos Visbal, Leidy Vanessa Aguirre Carvajal, Juan Daniel Ayala Torres, Nicolás Álvarez Gärtner, Julián Andrés Muñoz Durán

We present a case of obstruction in the third portion of the duodenum secondary to a phytobezoar in an adult patient with no surgical history and without a vegan diet. High intestinal obstruction due to a phytobezoar is rarely described in the literature, posing a diagnostic challenge when evaluating potential differentials in the emergency setting. Subsequently, we conduct a review focusing on tomographic findings and the surgical specimen, highlighting key points to consider when addressing such pathologies.

我们介绍了一例继发于植物贝藻的十二指肠第三段梗阻病例,患者是一名成年患者,无手术史,也没有素食习惯。植物虫导致的高位肠梗阻在文献中鲜有描述,这给急诊评估潜在的鉴别诊断带来了挑战。随后,我们以断层扫描结果和手术标本为重点进行了综述,强调了处理此类病症时应考虑的要点。
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引用次数: 0
Evidence for Therapeutic Drug Monitoring of Atypical Antipsychotics. 非典型抗精神病药物治疗药物监测的证据。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.10
Veronika Krejčí, Irena Murínová, Ondřej Slanař, Martin Šíma

Second-generation antipsychotics (SGAs), also known as atypical antipsychotics, are a newer class of antipsychotic drugs used to treat schizophrenia, bipolar disorder, and related psychiatric conditions. The plasma concentration of antipsychotic drugs is a valid measure of the drug at its primary target structure in the brain, and therefore determines the efficacy and safety of these drugs. However, despite the well-known high variability in pharmacokinetics of these substances, psychiatric medication is usually administered in uniform dosage schedules. Therapeutic drug monitoring (TDM), as the specific method that can help personalised medicine in dose adjustment according to the characteristics of the individual patient, minimizing the risk of toxicity, monitoring adherence, and increasing cost-effectiveness in the treatment, thus seems to be an elegant tool to solve this problem. Non-response to therapeutic doses, uncertain adherence to medication, suboptimal tolerability, or pharmacokinetic drug-drug interactions are typical indications for TDM of SGAs. This review aims to summarize an overview of the current knowledge and evidence of the possibilities to tailor the dosage of selected SGAs using TDM, including the necessary pharmacokinetic parameters for personalised pharmacotherapy.

第二代抗精神病药物(SGA)又称非典型抗精神病药物,是一类较新的抗精神病药物,用于治疗精神分裂症、躁郁症和相关的精神疾病。抗精神病药物的血浆浓度是衡量药物在大脑主要靶结构中浓度的有效指标,因此决定了这些药物的疗效和安全性。然而,尽管众所周知这类药物的药代动力学具有很大的变异性,但精神科药物通常还是按照统一的剂量表进行给药。因此,治疗药物监测(TDM)作为一种特殊的方法,似乎是解决这一问题的有效工具,它可以帮助个性化医疗根据患者的个体特征进行剂量调整,最大限度地降低毒性风险,监测依从性,并提高治疗的成本效益。对治疗剂量无反应、服药依从性不确定、耐受性不佳或药代动力学药物间相互作用是 SGAs TDM 的典型适应症。本综述旨在概述目前关于使用 TDM 调整某些 SGAs 剂量的知识和证据,包括个性化药物治疗所需的药代动力学参数。
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引用次数: 0
Recurrent Stroke as a Presenting Feature of Takayasu Arteritis in an Adolescent: A Case Report and Literature Review. 作为青少年高安动脉炎表现特征的复发性中风:病例报告与文献综述
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.6
Vasiliki Sgouropoulou, Efthymia Vargiami, Maria Kyriazi, Sofia Kafterani, Stella Stabouli, Georgios Tsigaras, Athanasia Anastasiou, Maria Trachana, Dimitrios Zafeiriou

Takayasu arteritis is a large vessel vasculitis, characterized by granulomatous inflammation of arterial vessels, that typically affects the aorta, its main branches and pulmonary arteries. Disease diagnosis is a challenge and requires awareness of the condition, as clinical signs can be not specific. We report a case of an adolescent with recurrent stroke diagnosed with Takayasu arteritis. A diagnosis of Takayasu arteritis was established due to angiographic findings in the magnetic resonance angiography in conjunction with systolic blood pressure discrepancy, arterial hypertension and increased acute phase reactants. Takayasu arteritis is a rare cause of ischemic stroke in children. However, stroke may be the first manifestation of the disease. Clinical experience and multidisciplinary approach, including aggressive treatment, is essential for the favourable outcome of the disease and the reduction of the associated morbidity and mortality.

高安动脉炎是一种大血管炎,以动脉血管肉芽肿性炎症为特征,通常累及主动脉及其主要分支和肺动脉。疾病诊断是一项挑战,需要对病情有所了解,因为临床表现可能不具特异性。我们报告了一例青少年反复中风患者被诊断为高安动脉炎的病例。由于磁共振血管造影的血管造影结果与收缩压差异、动脉高血压和急性期反应物增高相结合,确定了高安动脉炎的诊断。高安动脉炎是儿童缺血性中风的罕见病因。然而,中风可能是该病的首发表现。临床经验和多学科方法,包括积极治疗,对于疾病的良好预后以及降低相关发病率和死亡率至关重要。
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引用次数: 0
An Unusual Etiology of Fluorodeoxyglucose Avid Intrathoracic Lymph Nodes. 胸腔内淋巴结荧光脱氧葡萄糖阳性的不寻常病因。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.8
Alyssa Bonnier, Santu Saha, Adam Austin, Biplab K Saha

A middle-aged man in his 50s, active smoker, presented to the pulmonary office for lung cancer evaluation. On a low-dose computed tomography for lung cancer screening, he was found to have an 8 mm endobronchial lesion in the right main stem bronchus. A PET-CT revealed no endobronchial lesion, but incidentally, fluorodeoxyglucose (FDG) avidity was present in the right hilar (SUV 13.2) and paratracheal lymph nodes (LNs). He underwent bronchoscopy and EBUS-TBNA of station 7 and 10 R LNs. The fine needle aspiration (FNA) revealed necrotizing epithelioid granuloma. The acid-fast bacilli (AFB) and Grocott methenamine silver (GMS) stains were negative. He had suffered from pneumonic tularemia 13 months ago and immunohistochemical staining for Francisella tularensis on FNA samples at Center for Disease Control and Prevention was negative. The intense positron emission tomography (PET) avidity was attributed to prior tularemic intrathoracic lymphadenitis without active tularemia, a rare occurrence. To the best of our knowledge, PET-positive intrathoracic lymph node beyond one year without evidence of active tularemia has not been previously reported.

一名 50 多岁的中年男子,是一名活跃的吸烟者,到肺科诊室进行肺癌评估。在肺癌筛查的低剂量计算机断层扫描中,他发现右主干支气管有一个 8 毫米的支气管内病变。PET-CT 显示没有支气管内病变,但意外发现右侧肺门(SUV 13.2)和气管旁淋巴结(LNs)出现氟脱氧葡萄糖(FDG)阳性。他接受了支气管镜检查和第 7 站和第 10 站 R LN 的 EBUS-TBNA 检查。细针穿刺术(FNA)发现了坏死性上皮样肉芽肿。酸-ast杆菌(AFB)和Grocott甲氰咪胍银(GMS)染色均为阴性。13 个月前,他曾患过肺土拉菌病,疾病控制和预防中心对他的 FNA 样本进行了土拉菌弗朗西斯菌免疫组化染色,结果呈阴性。强烈的正电子发射断层扫描(PET)阳性反应归因于患者曾患土拉菌性胸内淋巴结炎,但没有活动性土拉菌病,这种情况非常罕见。据我们所知,PET 阳性胸内淋巴结一年后仍无活动性土拉菌病证据的情况以前从未报道过。
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引用次数: 0
Cerebral Arterial and Venous Air Embolism Following Removal of Percutaneous Sheath Introducer. 移除经皮鞘导入器后的脑动脉和静脉空气栓塞。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.24
Sana Ghalib, Biplab K Saha, Hau Chieng, Scott H Beegle

Cerebral air embolism after removal of central venous catheter (CVC) is a rare complication but can lead to fatal outcomes. We report a rare case of both cerebral venous and arterial embolism occurring in a patient with underlying scleroderma-related interstitial lung disease (SSc-ILD) and pulmonary hypertension following removal of percutaneous introducer sheath for pulmonary artery catheterization. We discuss the mechanisms, pathophysiology, management and prevention of cerebral air embolism.

移除中心静脉导管(CVC)后发生脑空气栓塞是一种罕见的并发症,但可导致致命后果。我们报告了一例罕见病例,患者患有硬皮病相关间质性肺病(SSc-ILD)和肺动脉高压,在拔除经皮导入鞘进行肺动脉导管插入术后同时发生脑静脉和动脉栓塞。我们讨论了脑空气栓塞的机制、病理生理学、处理和预防。
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引用次数: 0
Rheumatoid Arthritis and Osteoarthritis in Adult Women: A Functional Approach to the Stomatognathic System. 成年女性的类风湿关节炎和骨关节炎:从功能角度看口颌系统。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.20
Danilo Stefani Esposto, Marcelo Palinkas, Mariah Acioli Righetti, Oswaldo Luiz Stamato Taube, Anna Luísa Alves Fernandes, Jéssica Chiaratto, Vitória Ricardo, Fernanda Cristina Toloi Fiori Rufato, Simone Cecilio Hallak Regalo, Selma Siéssere

Rheumatoid arthritis and osteoarthritis both affect the articular cartilage, and are characterized by signs and symptoms that can affect the functions of the human body. This cross-sectional observational study evaluated electromyographic activity in the masseter and temporalis muscles, molar bite force, and mandibular mobility in adult women with rheumatoid arthritis or osteoarthritis. A total of 42 women were distributed into 3 groups: rheumatoid arthritis group (ARG, n=14); osteoarthritis group (OAG, n=14); and a healthy control group (CG, n=14). Electromyography was used to evaluate mandibular tasks at rest, right and left laterality, protrusion, and dental clenching during maximum voluntary contraction, with and without parafilm, and a dynamometer was used to analyse the right and left molar bite forces. A digital caliper was used to measure the range of mandibular movement for maximum mouth opening, right and left laterality, and protrusion. Statistical analyses were performed, including analysis of variance and Tukey's test (P<0.05). Electromyography showed no significant differences between the groups when evaluating the masticatory muscles during the mandibular tasks. Significant difference was observed between the ARG and CG, however, in the maximum right (P=0.007) and left (P=0.02) molar bite forces. Significant difference was observed in the maximum mouth opening of the ARG and OAG groups compared with that of the CG (P=0.009), suggesting that adult women with rheumatoid arthritis or osteoarthritis experience functional alterations in the stomatognathic system, particularly in molar bite force and maximum mouth opening.

类风湿性关节炎和骨关节炎都会影响关节软骨,其特征是会出现影响人体功能的症状和体征。这项横断面观察性研究评估了患有类风湿性关节炎或骨关节炎的成年女性的咀嚼肌和颞肌的肌电活动、磨牙咬合力和下颌骨活动度。共有 42 名妇女被分为 3 组:类风湿性关节炎组(ARG,14 人)、骨关节炎组(OAG,14 人)和健康对照组(CG,14 人)。使用肌电图评估静止时的下颌任务、左右侧位、前突和最大自主收缩时的牙关紧闭情况(使用或不使用辅助薄膜),并使用测力计分析左右臼齿的咬合力。使用数字卡尺测量下颌最大张口、左右侧向和前突的移动范围。统计分析包括方差分析和 Tukey 检验(P<0.05)。肌电图显示,在下颌任务中评估咀嚼肌时,组间无明显差异。然而,ARG 和 CG 在右侧(P=0.007)和左侧(P=0.02)臼齿最大咬合力方面存在显著差异。ARG组和OAG组的最大张口度与CG组相比有显著差异(P=0.009),这表明患有类风湿性关节炎或骨关节炎的成年女性会出现口颌系统的功能性改变,尤其是臼齿咬合力和最大张口度。
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引用次数: 0
Laryngotracheoesophageal Cleft Type IV in a Preterm Neonate. A Case Report and Literature Review. 早产新生儿喉气管食管裂孔 IV 型。病例报告与文献综述。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.4
Rozeta Sokou, Anastasia Batsiou, Aikaterini Konstantinidi, Paschalia Kopanou-Taliaka, Marina Tsaousi, Maria Lampridou, Evangelia-Filothei Tavoulari, Konstantinos Mitropoulos, Paraskevi Liakou, Stamatina Willadara-Gamage, Petros V Vlastarakos, Zoi Iliodromiti, Theodora Boutsikou, Nicoletta Iacovidou

We present a case of a preterm neonate with a type IV laryngo-tracheo-oesophageal cleft, an uncommon congenital malformation, resulting from the failure of separation of the trachea and the oesophagus during fetal development, often associated with other deformities as well. Data in the literature shows that the long-term morbidity from the entity has declined over the last decades, even though prognosis remains unfavourable for types III and IV. This report emphasizes the complex issues neonatologists are faced with, when treating neonates with this rare disorder in the first days of life, what will raise suspicion of this rare medical entity, and that direct laryngoscopy/bronchoscopy finally depicts the exact extension of the medical condition. At the same time extensive evaluation for coexisting congenital anomalies should be performed. For all the above reasons, these neonates should be treated in specialized tertiary pediatric centers for multidisciplinary prompt management, which may improve, the outcome.

我们接诊了一例患有 IV 型喉-气管-食道裂的早产新生儿,这是一种不常见的先天性畸形,是由于气管和食道在胎儿发育过程中未能分离造成的,通常还伴有其他畸形。文献数据显示,尽管 III 型和 IV 型患者的预后仍然不佳,但在过去几十年中,该病的长期发病率已有所下降。本报告强调了新生儿科医生在治疗生命最初几天患有这种罕见疾病的新生儿时所面临的复杂问题,即怎样才能引起对这种罕见病症的怀疑,以及直接喉镜/支气管镜检查最终能准确描述病情的延伸。同时,还应对并存的先天性畸形进行广泛评估。鉴于上述原因,这些新生儿应在专业的三级儿科中心接受治疗,接受多学科的及时处理,以改善预后。
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引用次数: 0
A Rare Case of Primary Vulval Amelanotic Melanoma Involving the Urethra. 原发性外阴黑素瘤累及尿道的罕见病例。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.23
Manuela Montatore, Laura Eusebi, Federica Masino, Alessia Mariagrazia Costa, Willy Giannubilo, Ferioli Elena, Lucilla Diamanti, Giuseppe Guglielmi

A 60-year-old woman came to the Emergency Department complaining of a vaginal formation. The urologist suspected a urethral caruncle: the patient was discharged with vaginal oestrogen cream to relieve symptoms and a follow-up was suggested. After two months the patient returned to the Emergency Department since the mass was increasing in volume and complaining of dysuria and haematuria. Ultrasound, contrast-enhanced computed tomography, and contrast-enhanced magnetic resonance revealed a mass arising from the mucosa and involving the vulva and the urethra, suspicious of malignancy. We present a challenging diagnosis of an infiltrative and rapidly progressive primary vulval amelanotic melanoma with a complete imaging evaluation and a confirmed histological diagnosis.

一名 60 岁的妇女来到急诊科,诉说阴道有异物形成。泌尿科医生怀疑是尿道痈:患者出院时使用了阴道雌激素软膏来缓解症状,并建议进行随访。两个月后,患者再次来到急诊科就诊,因为肿块体积不断增大,并伴有排尿困难和血尿。超声波、造影剂增强计算机断层扫描和造影剂增强磁共振检查发现,肿块来自粘膜,累及外阴和尿道,怀疑为恶性肿瘤。通过完整的影像学评估和组织学确诊,我们对这一浸润性、进展迅速的原发性外阴黑色素瘤做出了具有挑战性的诊断。
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引用次数: 0
Outcome after Neuro-interventional Treatment of Intracranial Aneurysm (as a First Treatment Modality). 颅内动脉瘤神经介入治疗(作为第一种治疗方式)后的效果。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.2
Hossein Ghanaati, Aryoobarzan Rahmatian, Mohammad Reza Amiri-Nikpour, Davar Altafi, Morteza Taheri, Seyed Bahaadin Siroos, Madjid Shakiba, Reza Elahi, Mahsa Alborzi Avanaki

Endovascular treatment is widely applied as the first-line treatment for intracranial aneurysms and includes simple coiling (SC), stent-assisted coiling (SAC), flow diversion stent, and flow disruption stent. The present study is a retrospective cohort study performed in Imam Khomeini Hospital, Department of Neurovascular Intervention, between March 2016 and March 2021. A total number of 229 patients with intracranial aneurysms who underwent therapeutic intravascular interventions were enrolled, of which 89 were treated with SC, 111 with SAC, 25 with flow diversion stent, and 4 with flow disruption stent. The mean age of the subjects was 51.8±12.6 years, and 51.1% were male. Modified Raymond-Roy classification (MRRC) was used to define the occlusion outcome. The success rate, considered as Class I and Class II of MRRC at treatment time was 89% (94.4% in SC, and 84.7% in SAC), which was increased to 90.9% (94% in SC, 93% in SAC, 69.6% in flow diversion stenting, 100% in flow disruption) at 6-month follow-up, and 84.6% (80.8% in SC, 87.8% in SAC, 78.3% in flow diversion stenting, and 100% in flow disruption) at 12-month follow-up. The mean modified Rankin Scale (mRS) before the procedure was 0.05±0.26 which was increased to 0.22±0.76 after the procedure, 0.22±0.76 at 6 months, and 0.30±0.95 at 12 months (P<0.001). Similar to previous studies, the present study demonstrates that neurovascular intervention can treat ruptured aneurysms as the first therapeutic modality with favourable outcomes. A double-blind, randomized clinical trial is needed to eliminate the confounding factors and better demonstrate the outcome.

血管内治疗作为颅内动脉瘤的一线治疗方法被广泛应用,包括简单卷曲(SC)、支架辅助卷曲(SAC)、血流分流支架和血流阻断支架。本研究是一项回顾性队列研究,于 2016 年 3 月至 2021 年 3 月期间在伊玛目霍梅尼医院神经血管介入科进行。共有 229 名颅内动脉瘤患者接受了治疗性血管内介入治疗,其中 89 人接受了 SC 治疗,111 人接受了 SAC 治疗,25 人接受了血流分流支架治疗,4 人接受了血流中断支架治疗。受试者的平均年龄为(51.8±12.6)岁,51.1%为男性。改良雷蒙德-罗伊分级(MRRC)用于定义闭塞结果。治疗时MRRC I级和II级的成功率为89%(SC为94.4%,SAC为84.7%),随访6个月时成功率增至90.9%(SC为94%,SAC为93%,血流分流支架植入术为69.6%,血流阻断术为100%),随访12个月时成功率增至84.6%(SC为80.8%,SAC为87.8%,血流分流支架植入术为78.3%,血流阻断术为100%)。术前平均改良 Rankin 量表(mRS)为 0.05±0.26,术后增至 0.22±0.76,6 个月时为 0.22±0.76,12 个月时为 0.30±0.95(P<0.001)。与之前的研究相似,本研究表明,神经血管介入治疗可作为治疗动脉瘤破裂的第一种治疗方式,且疗效良好。需要进行双盲、随机临床试验,以消除混杂因素,更好地证明疗效。
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引用次数: 0
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Prague medical report
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