Non-compaction of the ventricular myocardium: a cardiomyopathy in search of a pathoanatomical definition

Ventricular non-compaction is a rare cardiomyopathy characterized by numerous, excessively prominent ventricular trabeculations and deep intertrabecular recesses communicating with the ventricular cavity. The lesion is postulated to result from an intrauterine developmental arrest that stops compaction of the myocardial fiber meshwork. This cardiomyopathy affects the left ventricle, with or without concomitant right ventricular involvement. The disease is now seen with increasing frequency and it is clinically diagnosed by imaging techniques such as echocardiography or cardiac magnetic resonance. Current diagnostic criteria are considered too sensitive, particularly in black individuals. Therefore, this condition has generated considerable controversy and demands a new definition. Non-compaction cardiomyopathy shows variability of hereditary patterns, genetic heterogeneity, diversity in associated phenotypes and a wide spectrum of clinical presentation and pathophysiological findings. Non-compaction can be simply a variant of normal maturation of the ventricular myocardium with only the most severe forms producing a distinct clinical-pathological entity. Ventricular noncompaction most probably is a secondary consequence of an underlying molecular derangement produced by a pathogenetic mutation. It is likely that surgical pathologists will find this entity more frequently due to involvement in transplantation teams

Subgemmal neurogenous plaques of the tongue: a systematic autopsy study

Subgemmal neurogenous plaque (SNP) is a subepithelial nerve plexus associated with taste buds, occasionally observed in tongue biopsies. There is no evaluation of the prevalence of this structure in the general population. We present a systematic study of samples obtained at random from the dorsal portion of the oral tongue in 205 consecutive complete autopsies. Each sample was about 15 mm long and 10 mm thick. Four hundred fifty-eight samples were routinely obtained and an average of 2.23±0.88 samples per case (range 1-7) was collected. The total number of SNPs observed was 556, with a mean of 2.71±2.68 per case (range 0-16). This means that for every 15 linear mm of the oral tongue, approximately 2.7 SNPs can be present. SNPs display several ages, and they do not show sex differences. The mean size of these structures was 2.1±0.94 mm (range 0.6-3.6 mm). SNP is characterized by its unique neural, zonal pattern with a superficial neurofibroma-like area and a deeper neuroma-like area. Special features of the SNPs include the presence of taste buds (49.1%), ganglion cells (26.3%), dilated thin-walled vessels (11.3%), salivary gland excretory ducts emptying on the surface of the papillae (6.1%), moderate-severe inflammatory infiltrate (6.8%), presence of lymphoid tissue in the vicinity (7.0%), and hyperplasia of the epithelial cover with pseudoepitheliomatous appearance (7.0%). The differential diagnoses include schwannoma, neurofibroma, ganglioneuroma, traumatic neuroma, mucosal neuroma, and squamous cell carcinoma. SNPs are small, normal structures that may undergo hyperplasia and are usually seen incidentally

Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male

Histiocytoid/oncocytic cardiomyopathy (HCM) is a rare, distinctive arrhythmogenic disorder that presents as arrhythmia or sudden death in infants and children. Ventricular noncompaction (VNC) is a rare cardiomyopathy characterized by a thickened endocardial layer of noncompacted myocardium and a thin epicardial layer of compacted myocardium. Only six cases of the association of both cardiomyopathies have been reported previously in the literature. All these cases were in children. To the best of our knowledge, a case of HCM has not been described in the adult. We report the case of a 45-year-old man with an increased heart weight and involvement of both ventricles by HCM and VNC cardiomyopathy. Besides, multiple foci of myocardial disorganization were detected. He died suddenly while hiking. The association of both processes HCM and VNC was an unexpected finding at autopsy. The death was linked to functional abnormalities of the cardiac histiocytoid cells, and it was favored by a state of abnormal development of the heart

Basaloid squamous cell carcinoma with prominent shadow (ghost) cell differentiation. An unreported neoplasm of the parotid gland

Basaloid squamous cell carcinoma (BSCC) is an aggressive type of squamous cell carcinoma (SCC) predominant in the upper aerodigestive tract. To our knowledge, only one case of that tumor has been previously described in the parotid gland. Shadow (ghost) cell differentiation (SCD) is a specialized form of keratinization characteristic of pilomatricoma, and other skin tumors with follicular differentiation. SCD has also been described infrequently in some visceral carcinomas and rarely in the minor salivary glands. Recently, an SCC with prominent SCD has been reported in the parotid. We report for the first time the case of parotid BSCC with prominent SCD in an 87-year-old man. He was admitted due to the appearance in the last few months of a mass, painful on palpation, in the left parotid region. Imaging studies and tru-cut biopsies indicated the need for surgical removal. A left superficial parotidectomy, including the branch of the cervicofacial nerve, was performed. The BSCC showed predominance (62%) of SCD. Immunohistochemically, the basaloid cells were positive for ?-catenin, pan-cytokeratin (pan-CK) AE1?AE3, CK19, high-molecular-weight CK (HMWCK), p63, p40, and cluster of differentiation 10 (CD10) in a diffuse pattern. No signs of recurrence or metastasis were observed four months after surgery. The main differential diagnoses include nuclear protein in testis (NUT) carcinoma, adamantinoma-like Ewing sarcoma, embryonal carcinoma, and basal cell adenocarcinoma of the solid type. SCD in BSCC of the parotid should be recognized to avoid misdiagnosis, especially in small samples. Although rare, BSCC with SCD should be added to the list of tumors that may originate in the parotid gland.Funding: This study was not funded externally

Infección cutánea por Alternaria triticina en un paciente con trasplante bilateral de pulmón

We report the case of a 60-year-old man who was receiving immunosuppressive therapy for a bilateral lung transplant and presented with a crusted, violaceous plaque on the left hand. Based on histopathology and microbiological culture the patient was diagnosed with infection by Alternaria species. Treatment with itraconazole led to complete resolution of the skin lesion. Forty months later he developed four reddish, nodular, skin lesions on the left leg. Analysis of a biopsy from one of these lesions using histopathologic and molecular techniques identified a mold that shared 98% homology with a strain of Alternaria triticina. Alternaria species belong to a group of dematiaceous fungi that cause opportunistic infections in humans. The incidence of these infections is increasing, mainly in transplant centers. To the best of our knowledge, this is the first reported case of a human infection caused by A. triticinaPresentamos el caso de un hombre de 60 años en tratamiento inmunosupresor por un trasplante pulmonar bilateral que presentó una placa violácea costrosa en la mano. Se diagnosticó de infección por Alternaria spp mediante estudio histopatológico y cultivo microbiológico. El tratamiento con itraconazol condujo a la resolución completa de la lesión cutánea. Cuarenta meses más tarde el paciente desarrolló 4 lesiones nodulares rojizas en la pierna izquierda. Las muestras obtenidas de una de las lesiones fueron estudiadas mediante histopatología y técnicas moleculares. La secuencia de ADN que se obtuvo del germen causal mostraba una homología del 98% con una cepa de Alternaria triticina. Las especies de Alternaria forman parte del grupo de hongos que componen las feohifomicosis susceptibles de causar infecciones oportunísticas humanas. La incidencia de estas infecciones está aumentando, sobre todo en centros de trasplante. De acuerdo con nuestra información el presente caso es el primero en el que A. triticina es causante de una infección humanaAcknowledgement: We thank Manuel Cuenca Estrella and Emilia Mellado of the Instituto Nacional de Salud Carlos III in Madrid for confirmation of the identity of the fungus

Endobronchial ultrasound-guided transbronchial needle aspiration in the diagnosis of mediastinal metastases of clear cell renal cell carcinoma

Evaluation of mediastinal lymphadenopathy in patients with a previous diagnosis of renal cell carcinoma (RCC) is critical for the determination of further treatment. A minimally invasive method of cytology sampling of mediastinal lymph nodes using endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has emerged as a useful tool in diagnosis. Between January 2010 and April 2018, we performed 1744 EBUS-TBNA studies of mediastinal and hilar lymph nodes for a variety of clinical indications including mediastinal malignancy. Sixteen patients (93.7% males, mean age 59.1 years, range 44?81 years) were diagnosed by cytological and cell block study to have metastatic clear cell RCC. Twelve patients had been diagnosed with clear cell RCC in the past (mean 39 months, range 4?89 months) while in four, the tumor was primarily diagnosed in the staging phase on the basis of EBUS-TBNA. The EBUS features of the mediastinal nodal masses included increase of size (mean 2.5?cm, range 1.6?3.8?cm), irregular, inhomogeneous, hypervascular, and hyperechoic echotexture. EBUS-TBNA is a procedure safe and effective for evaluating mediastinal lymphadenopathy in patients with clear cell RCC. Immunohistochemistry in the cell block is decisive for proper diagnosis. The cytologist plays a key role in the diagnosis of metastatic clear cell RCC due to the treatment implications that this neoplasm encompasses

Solitary fibrous tumor arising from the mesentery of adult patients. Report of two cases and review of the literature

Solitary fibrous tumors (SFTs) represent an uncommon entity most frequently manifested in the pleura. We describe herein two new cases located in the jejunal and sigmoid mesentery incidentally found in patients aged 61 and 32 years. In a review of the literature, we have compiled 15 mesenteric SFTs including our two cases. The mean age of the patients at presentation was 51.7 years (range, 26-83 years). Most patients were males (males:females 4:1). Although occasionally these tumors were an incidental finding, the majority have been symptomatic. Tumors varied greatly in size (3 to 25 cm), but most of them were large (mean 14.8 cm). Most cases (60%) were located in the small intestine mesentery. The hemangiopericytomatous (cellular) variant was the most common. All patients were treated by surgery and no other therapeutic approaches (chemo-/radiotherapy) were used. Follow-up data were available in 11 cases and ranged from six days to 21 years, with a mean follow-up period of 36.2 months. None recurred or metastasized. Two (13.3%) of the 15 cases showed atypical histological features concordant with histological, but not clinical malignancy. The main differential diagnosis includes gastrointestinal stromal tumor, synovial sarcoma and reactive nodular fibrous pseudotumor of the mesentery. In one third of the cases, tumor excision did not require intestinal resection. To our knowledge, our Case No. 1 is the first reported that has been removed through laparoscopic surgery. Radical surgery remains the treatment of choice. The unpredictable behavior of SFTs requires a careful, close, long-term follow-up

OCT assessment of aortic wall degradation for surgical guidance

The degradation of the wall in large cardiovascular vessels, such as the aorta artery, induces weakness in the vessel that can lead to the formation of aneurysms and the rupture of the vessel. Characterization of the wall integrity is assessed by OCT for future intraoperative assistance in aneurysm graft surgery interventions. Optical Coherence Tomography (OCT) provides cross sectional images of the wall of the aortic media layer. Wall degradations appear as spatial anomalies in the reflectivity profile through the wall thickness. Wall degradation assessment is proposed by automatic identification and dimensioning of these anomalies within the homogeneous surrounding tissue