Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene [0.03%]
粘多糖贮积症VII型（Sly综合征）：GUSB基因中新的意义未明的变异
Emilio I Abecia Martínez,Jorge Puente Prieto,Jorge Luis Delgado Fernández et al.
Emilio I Abecia Martínez et al.
Mucopolysaccharidoses (MPS) are a group of diseases caused by the accumulation of glycosaminoglycans (GAGs). Currently, eleven enzyme deficiencies have been described, with eight different MPS subtypes reported. MPS VII, also known as Sly s...
Diagnostic challenges of retroperitoneal leiomyosarcoma: A case of confusion with adrenal tumour [0.03%]
腹膜后平滑肌肉瘤的诊断挑战：一例与肾上腺肿瘤相混淆的病例
Víctor Pedrero Castillo,Víctor Cristóbal Redondo,Antonio Tejera-Muñoz et al.
Víctor Pedrero Castillo et al.
Leiomyosarcoma (LMS) represents an aggressive neoplasm that often involves a diagnostic challenge when encountered in atypical anatomical sites. The case here exposed involves a 70-year-old female with a retroperitoneal mass measuring 65mm...
Cardiac amyloidosis: A diagnosis made from an ophthalmological finding and suspicion [0.03%]
心脏淀粉样变性：一个由眼科发现和怀疑作出的诊断
Germán Allendes-Urquiza,Yolanda Castro Álvarez,Rafael Montejano-Milner et al.
Germán Allendes-Urquiza et al.
Background: Amyloidosis refers to a heterogeneous group of diseases characterized by extracellular deposits of amyloid. Transthyretin is one of the precursor proteins in hereditary forms, where amyloid mainly accumulates ...
Irene Salvador Marí,Elisa Ortega Pastor,Pedro Palao Moreno et al.
Irene Salvador Marí et al.
A thyroglossal duct cyst is a benign congenital lesion present in 7% of the population. Malignant transformation is rare, with an incidence of 1%, 90% of which are papillary carcinomas. We report the case of a 36-year-old woman with an asym...
Francisco Javier Torres Gómez,Consolación Sánchez Noriega,Francisco Navarro Lara
Francisco Javier Torres Gómez
Unusual tumour of the anterior mediastinum: Intrathymic bronchogenic cyst mimicking a thymoma [0.03%]
前纵隔不常见肿瘤：胸腺内支气管源囊肿一例疑似胸腺瘤
Mireia Rusca Giménez,Steffi Verónica Vidal Aguirre,Juan Gómez Tabales et al.
Mireia Rusca Giménez et al.
Bronchogenic cysts are rare congenital cystic lesions. Their occurrence in the anterior mediastinum as intrathymic bronchogenic cyst is extremely uncommon. These cysts present as mediastinal masses, and are generally asymptomatic and often ...
GATA-3 biomarker as a confounding factor in a patient with intraocular metastasis from squamous cell carcinoma of the lung [0.03%]
来自肺鳞状细胞癌的眼内转移患者中GATA-3生物标志物作为一个混淆因素
Antonio Manuel Garrido-Hermosilla,Raquel Monge-Carmona,Rafael Perea-Pérez et al.
Antonio Manuel Garrido-Hermosilla et al.
Metastatic tumours to the retina are rare and are mainly found in the uvea (choroid, iris, or ciliary body). Despite their rarity, they pose a diagnostic challenge due to their diverse origins and subtle manifestations. This study examines ...
Parotid rhabdomyosarcoma with spindle cell features masquerading as a benign salivary gland tumour: Pitfall alert [0.03%]
具有梭形细胞特征的腮腺横纹肌肉瘤误诊为良性唾液腺肿瘤：需要注意的陷阱
Thotadamane Nagaraja Chandrashekhar,Apoorva Narayana Reddy,Priyadharshini Bargunam et al.
Thotadamane Nagaraja Chandrashekhar et al.
Rhabdomyosarcoma (RMS) is the most common sarcoma in children and adolescents, with the head and neck region, extremities, and genitourinary tract being the most common locations. Rhabdomyosarcoma of the salivary glands is rarely seen in ch...
Peritoneal carcinomatosis after lumboperitoneal shunt in a patient with a cancer of unknown primary site: Case report and review of the literature [0.03%]
不明原发灶癌症患者腰腹腔分流术后的腹膜癌病：病例报告及文献回顾
Miquel Piñol Ribas,Robert Begué,Víctor Martínez et al.
Miquel Piñol Ribas et al.
Cancer of unknown primary site (CUP) often presents with atypical clinical behaviours that make identifying the primary tumour challenging. In this paper, we discuss the case of a patient with brain metastases from a CUP, which was ultimate...
Experience of Biology Degree students in the recognition of tissue alterations in human histopathological samples [0.03%]
生物学专业学生对人体组织病理学样本的鉴定经历
Fernando Leiva-Cepas,Cristina García-Caballero,Julio Osuna-Soto et al.
Fernando Leiva-Cepas et al.
Introduction: The analysis of histological images plays a fundamental role in studying pathological alterations associated with human diseases, especially in the context of practical teaching. However, in the Biology Degr...