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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
Coracoclavicular Joint Arthrosis - An Uncommon Cause of Shoulder Pain. 肩锁关节关节病--肩部疼痛的一个不常见原因。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.15
Natã Nascimento de Jesus Graça, Márcio Luís Duarte

The coracoclavicular joint is a diarthrodial synovial joint that is eventually located between the upper surface of the horizontal part of the coracoid process and the conoid tubercle of the clavicle, and is considered an unusual anatomical alteration. The coracoclavicular joint has a low prevalence and can be diagnosed by imaging tests - radiography and computed tomography. Treatment can be performed both conservatively and surgically. We report a case of an 81-year-old female patient presenting of pain in her left shoulder due to coracoclavicular joint arthrosis. A radiograph of the left shoulder was performed, which detected a deformity in the lower portion of the middle third of the clavicle and the upper portion of the coracoid process, corresponding to the coracoclavicular joint, a finding confirmed by computed tomography. The patient was treated conservatively with analgesics (Dipyrone) and anti-inflammatories (Ibuprofen) with improvement in symptoms.

冠状锁关节是一种二关节滑膜关节,最终位于冠状突水平部分的上表面和锁骨的锥体结节之间,被认为是一种不寻常的解剖学改变。冠状锁关节的发病率较低,可通过影像学检查--射线照相术和计算机断层扫描--确诊。治疗方法有保守治疗和手术治疗两种。我们报告了一例 81 岁女性患者的病例,她的左肩疼痛是由锁骨关节炎引起的。对患者的左肩进行了X光检查,发现锁骨中三分之一的下半部分和冠状突的上半部分出现畸形,与肩锁关节相对应,计算机断层扫描证实了这一发现。患者接受了止痛药(双黄连)和消炎药(布洛芬)的保守治疗,症状有所改善。
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引用次数: 0
Accessory Flexor Muscle of Forearm - A Rare Variant - Embryological and Clinical Prospect. 前臂副屈肌-一个罕见的变异-胚胎学和临床前景。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.32
Kamalesh Saravanan, Rajesh Kumar, Dibakar Borthakur, Harisha Kusuma, Seema Singh

Several muscle variations have been observed in flexor aspect of forearm which can hamper normal functioning of hand or may remain silent. One such unreported variation has been described in this report. An accessory muscle in the left forearm was found involving flexor carpi ulnaris (FCU) and palmaris longus (PL). This muscle was originating from the distal part of both FCU and PL through a slip from each tendon. After merging, it passed above the ulnar nerve and artery in the roof of Guyon's canal. This type of variation can cause neurovascular compression and can also mimic soft tissue mass, tumour or neuroma and can be misdiagnosed. Knowledge about this type of variation is important in cases of neurovascular decompression, forearm, and hand surgeries and these can be utilized in tendon transfer or free muscle flap for reconstruction purposes.

在前臂屈肌方面观察到一些肌肉变异,这可能妨碍手的正常功能或可能保持沉默。本报告描述了一种未报告的变异。左前臂的副肌包括尺腕屈肌(FCU)和掌长肌(PL)。该肌肉起源于FCU和PL的远端,通过每根肌腱的滑动。合并后,它通过尺神经和盖恩管顶部的动脉。这种类型的变异可引起神经血管压迫,也可模仿软组织肿块、肿瘤或神经瘤,并可能被误诊。了解这种类型的变异在神经血管减压、前臂和手部手术中是很重要的,这些可以用于肌腱转移或自由肌肉瓣重建目的。
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引用次数: 0
Acute Pancreatitis: Radiological Detection and Clinical Significance of Pancreatic Ascites, Pleural and Parapancreatic Fluid Effusions. 急性胰腺炎:胰腺腹水、胸膜及胰旁液积液的影像学检测及临床意义。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.28
Tetiana Formanchuk

Fluid collections are common manifestations of local complications of acute pancreatitis (AP). The determination of fluid collections is important in stratifying the severity of the course of acute pancreatitis and choosing the appropriate management. In this study, the frequency of detection of fluid effusions by various instrumental methods and their clinical significance in 677 patient was assessed, taking into account the severity of the course of AP and anatomical localization of fluid accumulations. The computed tomography (CT) method showed its advantage in detecting fluid effusions in the pleural cavities, while the ultrasound method showed its indisputable significant advantage in the diagnosis of fluid effusions located parapancreatically and in the lesser sac: the highest frequency of detection of fluid effusion was in 65.3% of all patients in the general group using CT compared to 39% using ultrasound and 12.5% using chest X-ray (p<0.05). Each of the above methods showed different sensitivity depending on the anatomical areas of fluid effusion detection. In particular, the CT method revealed the presence of fluid in the pleural cavities in 50.7% of the total group, in the abdominal cavity in 36.0% of cases, and only in 8.0% of cases in the parapancreatic or lesser sac. The opposite picture was revealed when using the ultrasound method, in which fluid was found in the parapancreatic/lesser sac in the largest number of cases - 28.1%, in the abdominal cavity - in 22.6% of cases, and in the pleural cavity - in 14.3% of cases.

积液是急性胰腺炎(AP)局部并发症的常见表现。液体收集的测定对于区分急性胰腺炎病程的严重程度和选择适当的治疗是重要的。在本研究中,考虑到AP病程的严重程度和积液的解剖定位,评估了677例患者中各种仪器方法检测积液的频率及其临床意义。CT方法在检测胸腔积液方面具有优势,而超声方法在诊断胰腺旁及小囊积液方面具有无可争议的显著优势:普通组患者中,CT检出积液的最高频率为65.3%,超声为39%,胸片为12.5% (p < 0.05)。上述每种方法的灵敏度取决于液体渗出检测的解剖区域。特别是,CT方法显示,50.7%的患者胸膜腔有积液,36.0%的患者腹腔有积液,胰腺旁或小囊只有8.0%的病例有积液。超声检查的结果正好相反,在胰腺旁/小囊中发现的液体最多,占28.1%,在腹腔中占22.6%,在胸膜腔中占14.3%。
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引用次数: 0
Gorlin-Goltz Syndrome - A Rare Case Entity in Young Child. 戈林-戈尔茨综合征--幼儿中的罕见病例。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.7
Shovita Mondal, Nikil Kumar Jain, Abhishek Dutta, Nishant, Abhijit Dutta, Moushumi Shil, Suman Sen

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, which depicted presence of numerous basal cell carcinoma in conjunction with multiorgan abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the keratocystic odontogenic tumour are usually one of the first manifestations of the syndrome. This article includes a case report of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumour and treatment modalities.

戈林-戈尔茨综合征(Gorlin-Goltz Syndrome,GGS)是一种不常见的多系统疾病,具有常染色体显性遗传特征,描述了大量基底细胞癌与多器官异常的结合。由于角化囊性牙源性肿瘤通常是该综合征的首发表现之一,因此牙科医生可在患者出生后的头十年通过常规放射检查早期诊断出该综合征。本文包括一份关于牙源性角化囊肿综合征的病例报告,内容涉及牙源性角化囊肿综合征的病史、发病率、病因、特征、检查、诊断标准、牙源性角化囊肿和治疗方法。
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引用次数: 0
A Curious Case of Clear Cell Morphology in a Patient with Lung Cancer: Diagnostic Challenges. 肺癌患者透明细胞形态的奇特病例:诊断难题。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.12
Alyssa Bonnier, Mufaddal Najmuddin, Michael D Curry, Anum Nida, Biplab K Saha

An 82-year-old woman with COPD presented to the emergency department with cough, increasing sputum production, wheezing, and worsening shortness of breath for two weeks. On imaging studies, the patient was found to have a right upper lobe spiculated nodule and an endobronchial lesion with near total occlusion of the right lower lobe bronchus with sub-segmental atelectasis. Bronchoscopy with EBUS-TBNA of subcarinal and right hilar lymph nodes revealed lung cancer with clear cell phenotype. Given the predominance of clear cell morphology, the diagnosis of metastatic renal or ovarian cancer was entertained. However, there was no evidence of renal or ovarian lesions on the PET-CT scan, ruling out the possibility. Salivary gland type lung cancer (STLC), which is responsible for less than 1% of all lung cancer cases in adults, was also considered. The two distinct STLCs that may have similar morphologic appearances are hyalinizing clear cell carcinoma (HCCC) and mucoepidermoid carcinoma (MEC). The other type of tumour in the lung that demonstrates a clear cell phenotype is perivascular epithelioid cell neoplasms or PEComa, which are mesenchymal in origin. Immunohistochemical staining was strongly positive for p63, CK5/6, CK7, CK-LMW, and negative for TTF-1, Napsin A, p16, and CK20. Additional staining, including HMB-45, S-100, and mucicarmine, were also negative. Next-generation sequencing for the salivary gland fusion panel, including EWSR1-ATF1 fusion and EWSR1 gene rearrangement for HCCC and MAML2 gene rearrangements for MEC, was negative. She was diagnosed with non-small cell lung cancer favouring squamous cell carcinoma with clear cell phenotype, a rare entity.

一名患有慢性阻塞性肺病的 82 岁女性患者因咳嗽、痰液增多、喘息和气短加重两周来到急诊科就诊。影像学检查发现,患者右上叶有一个棘状结节,支气管内病变导致右下叶支气管近乎完全闭塞,并伴有亚段闭塞。支气管镜检查和心尖下和右肺门淋巴结的 EBUS-TBNA 检查发现肺癌为透明细胞表型。鉴于透明细胞形态占主导地位,患者被诊断为转移性肾癌或卵巢癌。然而,PET-CT 扫描未发现肾脏或卵巢病变,因此排除了这一可能性。此外,还考虑了唾液腺型肺癌(STLC),这种肺癌在成人肺癌病例中的发病率不到 1%。透明透明细胞癌(HCCC)和粘液表皮样癌(MEC)是两种不同的 STLC,它们可能具有相似的形态学表现。肺部另一种表现为透明细胞表型的肿瘤是血管周围上皮样细胞瘤或 PEComa,它们起源于间质。免疫组化染色显示 p63、CK5/6、CK7、CK-LMW 呈强阳性,TTF-1、Napsin A、p16 和 CK20 呈阴性。其他染色,包括HMB-45、S-100和粘液胭脂红也呈阴性。唾液腺融合基因组的新一代测序结果为阴性,其中包括针对HCCC的EWSR1-ATF1融合和EWSR1基因重排,以及针对MEC的MAML2基因重排。她被诊断为非小细胞肺癌,倾向于透明细胞表型的鳞状细胞癌,这是一种罕见的疾病。
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引用次数: 0
Weight-bearing Ultrasound to Diagnose Talar Dislocation Causing Tarsal Tunnel Syndrome. 负重超声波诊断引起跗骨隧道综合症的距骨脱位。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.17
Márcio Luís Duarte, Mayara Oliveira da Silva, Ocacir de Souza Reis Soares, Norma Sueli Albino Moreira, Eduardo Kenzo Arie

The neuropathic compression of the tibial nerve and/or its branches on the medial side of the ankle is called tarsal tunnel syndrome (TTS). Patients with TTS presents pain, paresthesia, hypoesthesia, hyperesthesia, muscle cramps or numbness which affects the sole of the foot, the heel, or both. The clinical diagnosis is challenging because of the fairly non-specific and several symptomatology. We demonstrate a case of TTS caused by medial dislocation of the talar bone on the calcaneus bone impacting the tibial nerve diagnosed only by ultrasound with the patient in the standing position.

踝关节内侧的胫神经和/或其分支受到神经性压迫,称为跗骨隧道综合征(TTS)。TTS 患者会出现疼痛、麻痹、感觉减退、感觉减退、肌肉痉挛或麻木,影响足底、足跟或两者。由于症状相当非特异性且多种多样,因此临床诊断极具挑战性。我们展示了一例由于小腿骨上的距骨内侧脱位影响胫神经而引起的 TTS,该病例仅在患者站立时通过超声波诊断。
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引用次数: 0
Validation of the Idiopathic Hypersomnia Severity Scale in the Czech Republic. 捷克共和国特发性嗜睡严重程度量表的验证。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.26
Jitka Bušková, Eva Miletínová, Tereza Dvořáková, Radana Měrková, Jana Krpešová, Soňa Nevšímalová, Martin Milata, Karolína Galušková, Simona Dostálová, Karel Šonka

We have verified the eligibility of the Idiopathic Hypersomnia Severity Scale (IHSS) as a basic clinical tool for determining the subjective severity of illness in patients with idiopathic hypersomnia (IH) in the Czech Republic. Total of 37 patients with a diagnosis of IH (9 men, 28 women, mean age 40.2 ± 12.8) completed the IHSS scale. At the same time, they were instructed to complete the Epworth Sleepiness Scale (ESS), the Fatigue Severity Scale (FSS), the Hospital Anxiety and Depression Scales (HADS-A and HADS-D), and a short version of the Quality of Life Questionnaire (SF-36). The control group consisted of 88 age- and sex-matched healthy volunteers. The IHSS scale showed good internal consistency of the questionnaire using Cronbach's α, which was 0.88. The KMO (Keiser-Meyer-Olkin index) was 0.72, confirming sufficient structural validity of the questionnaire. The correlation of the total IHSS score with the ESS (ρ = 0.59, p=0.0001) and FSS (ρ = 0.84, p<0.0001) as well as with the HADS-A scales (ρ = 0.64, p<0.0001), HADS-D (ρ = 0.79, p<0.0001) and SF-36 in both the mental (ρ = -0.85, p<0.0001) and physical health (ρ = -0.66, p<0.0001) components. The IHSS is a convenient and easy-to-apply clinical tool to assess subjective severity of illness, which describes well the symptoms of idiopathic hypersomnia and assesses their impact on health and daily activities.

我们已经验证了特发性嗜睡严重程度量表(IHSS)作为确定捷克共和国特发性嗜睡(IH)患者主观疾病严重程度的基本临床工具的资格。37例确诊为IH的患者(男9例,女28例,平均年龄40.2±12.8岁)完成了IHSS量表。同时,他们被要求完成爱普沃斯嗜睡量表(ESS)、疲劳严重程度量表(FSS)、医院焦虑和抑郁量表(HADS-A和HADS-D)以及生活质量问卷(SF-36)的简短版本。对照组由88名年龄和性别匹配的健康志愿者组成。采用Cronbach's α计算的IHSS量表显示问卷具有良好的内部一致性,其内部一致性为0.88。KMO (keizer - meyer - olkin指数)为0.72,证实问卷具有足够的结构效度。IHSS总分与ESS (ρ = 0.59, p=0.0001)、FSS (ρ = 0.84, p<0.0001)以及HADS-A量表(ρ = 0.64, p<0.0001)、HADS-D量表(ρ = 0.79, p<0.0001)和SF-36在心理(ρ = -0.85, p<0.0001)和身体健康(ρ = -0.66, p<0.0001)分量的相关性。IHSS是一种方便且易于应用的临床工具,用于评估主观疾病的严重程度,它很好地描述了特发性嗜睡症的症状,并评估了它们对健康和日常活动的影响。
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引用次数: 0
Accessory Flexor Carpi Ulnaris Muscle in Humans: A Rare Anatomical Case with Clinical Considerations. 人类的拇外侧肌:一个罕见的解剖病例及临床考虑因素。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.16
Dibakar Borthakur, Arthi Ganapathy, Mohammed Ahmed Ansari, Ritu Sehgal

Anatomical variations of the forearm flexor muscles are occasionally encountered. Though usually observed incidentally during autopsies or imaging studies, they may at times cause concern due to associated clinical symptoms. This report presents a case of unilateral accessory flexor carpi ulnaris (AFCU) muscle observed in a human male cadaver aged 78 years. During routine cadaveric dissection, an anomalous AFCU muscle was observed in the left forearm of a human male cadaver aged 78 years. Standard institutional guidelines pertaining to the use of human cadaver for teaching and research were followed. A thorough literature review about the flexor carpi ulnaris (FCU) through the PubMed, Embase and Google scholar databases was undertaken, using the keywords - accessory flexor carpi ulnaris muscle, aberrant flexor carpi ulnaris muscle and anatomical variation of flexor carpi ulnaris muscle. Relevant gross anatomical findings were recorded and photographed. AFCU was identified on the medial aspect of the distal third of the left forearm. The AFCU was found originating from the ante-brachial fascia and the fascia covering the FCU on the left forearm, forming a small separate belly deep to the main muscle. It terminated as a thin tendon running alongside the hypothenar muscles and attached distally to the base of the proximal phalanx of the little finger. The AFCU was found to be innervated by a branch of the ulnar nerve. Awareness about the rare AFCU muscle is clinically important as a possible cause of ulnar nerve compression but also as a possible graft in reconstruction surgeries.

前臂屈肌的解剖变异偶有发生。虽然这些变异通常是在尸检或成像研究中偶然观察到的,但有时也会因相关的临床症状而引起关注。本报告介绍了一例在 78 岁男性尸体上观察到的单侧尺侧屈肌(AFCU)。在例行尸体解剖过程中,在一具 78 岁男性尸体的左前臂发现了一块异常的 AFCU 肌肉。在使用人类尸体进行教学和研究时,我们遵循了标准的机构指导方针。通过PubMed、Embase和Google scholar数据库对有关尺侧屈肌(FCU)的文献进行了全面的回顾,使用的关键词包括:附属尺侧屈肌、畸形尺侧屈肌和尺侧屈肌的解剖变异。对相关的大体解剖结果进行了记录和拍照。AFCU 位于左前臂远端三分之一处的内侧。AFCU 起源于左前臂的肱前筋膜和覆盖 FCU 的筋膜,在主肌肉深处形成一个独立的小腹部。它的末端是一条细长的肌腱,与腓下肌并行,远端附着在小指近节指骨基部。研究发现,AFCU 由尺神经的一个分支支配。对罕见的 AFCU 肌肉的认识在临床上非常重要,因为它可能是尺神经受压的原因之一,也可能是重建手术中的移植物。
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引用次数: 0
A Giant Scrotal Neurofibroma in a Child Masquerading as Filariasis: Uncommon Presentation of a Common Disease. 伪装成丝虫病的儿童巨大阴囊神经纤维瘤:一种常见疾病的罕见表现。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.5
Anurag Singh, Gyanendra Singh, Anuragani Verma, Yogendra Narayan Verma

Neurofibroma of the scrotum is a very uncommon benign neoplasm, specifically when it affects teenagers and is not associated with neurofibromatosis type I. To the best of our knowledge, only a couple of cases of neurofibroma in children have been documented. Here, we report a case study of a 17-year-old boy who had a giant scrotal lump for ten years masquerading clinically as filariasis. A provisional diagnosis of benign nerve sheath neoplasm was made based on cytology findings. The lump was surgically removed from the patient, and a histopathological and immunohistochemistry examination established the diagnosis of neurofibroma. The combined clinical, preoperative cytological, histological, and immunohistochemistry findings were not presented in the literature in any of the formerly documented cases of scrotal neurofibroma. The current case expands the spectrum of differential diagnoses for scrotal tumours that clinicians have previously observed.

阴囊神经纤维瘤是一种非常少见的良性肿瘤,尤其是当它影响到青少年且与神经纤维瘤病 I 型无关时。在此,我们报告了一例 17 岁男孩的病例研究,该男孩患有巨大阴囊肿块长达 10 年之久,临床上被伪装成丝虫病。根据细胞学检查结果,初步诊断为良性神经鞘瘤。手术切除了患者的肿块,组织病理学和免疫组化检查确定了神经纤维瘤的诊断。结合临床、术前细胞学、组织学和免疫组化检查结果的阴囊神经纤维瘤病例未见文献报道。本病例扩展了临床医生以前观察到的阴囊肿瘤的鉴别诊断范围。
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引用次数: 0
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Prague medical report
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