Case for diagnosis. A bluish nodule on the scalp

A 32-year-old man was seen due to a 24-month history of an asymptomatic nodular lesion in the left parietal region. Physical examination revealed a smoothly bluish elevated nodule of 1.5cm x 1cm. He reported no preceding history of trauma. Dermoscopy revealed a homogeneous blue pattern (Figure 1). The tumor was surgically excised and sent for dermatopathological study. Histological examination showed a circumscribed dermal tumor without epidermal attachmen

Meningioma con diferenciación rabdoide. Reporte de un caso y revisión de la bibliografía

Introducción: El meningioma constituye 1 a 4% de las neoplasias primarias malignas del SNC en la edad pediátrica y su incidencia se incrementa conforme a la edad. Si bien tiene una predisposición hacia el sexo femenino en edad adulta, la distribución es equitativa en la edad pediátrica. En 1998 Kepes, Perry y colaboradores describieron dos series de meningiomas con zonas de morfología rabdoide y sugirieron el término meningioma rabdoide, que se ha relacionado con un tipo histológico de comportamiento biológico agresivo y mal pronóstico. Caso clínico: Se presenta el caso de un paciente masculino de seis años de edad que ingresó por crisis convulsivas y de ausencia. En la RMN se encontró una tumoración en la región temporo-parietal derecha. Los cortes histológicos revelaron una neoplasia compuesta por células fusiformes, con núcleos alongados y seudoinclusiones, así como zonas con aumento en la celularidad conformadas por células con abundante citoplasma eosinófilo y núcleo desplazado a la periferia. Las tinciones de inmunohistoquímica fueron positivas para EMA en el componente meningotelial y para vimentina en el componente rabdoide. Se diagnosticó meningioma rabdoide. Discusión: El meningioma rabdoide se clasifica como grado III según la OMS. La importancia de identificar estas neoplasias radica en su comportamiento agresivo y en su alta tasa de recurrencia. A pesar de que existen numerosos casos reportados en pacientes adultos, la epidemiologia de estas neoplasias durante la infancia no es del todo clara y los parámetros pronósticos aquí mencionados aún no se estudian del todo en niños

Cutaneous mucormycosis

Cutaneous mucormycosis is an emerging fungal infection caused by opportunistic fungi of the phylum Glomeromycota. It is frequent in poorly controlled diabetic patients and individuals with immunosuppression. It is usually acquired by direct inoculation through trauma. The clinical presentation is nonspecific, but an indurated plaque that rapidly evolves to necrosis is a common finding. Diagnosis should be confirmed by demonstration of the etiological agent and new molecular diagnostic tools have recently been described. It is an invasive life-threatening disease and in order to improve survival, a prompt diagnosis and multidisciplinary management should be provided. The treatment of choice is amphotericin B, but new azoles, such as posaconazole and isavuconazole, must be considered. Keywords: Mucormycosis; Mucorales; Mucor; Zygomycosis; Rhizopu

Chondrocyte Turnover in Lung Cartilage

Cartilage is a highly differentiated connective tissue that forms mechanical support to soft tissues and is important for bone development from fetal period to puberty. It is conformed by chondrocytes and extracellular matrix. It is generally believed that adult cartilage has no capacity to renewal. A delicate balance between cell proliferation and cell death ensures the maintenance of normal tissue morphology and function. Stem cells play essential roles in this process. Mesenchymal stem cells (MSCs) can give rise to multiple lineages including bone, adipose and cartilage. Nestin protein was initially identified as a marker for neural stem cells, but its expression has also been detected in many types of cells, including MSCs. In vivo, chondrocyte turnover has been almost exclusively studied in articular cartilage. In this chapter we will review the findings about the chondrocyte turnover in lung cartilage. We have presented evidence that there exist nestin-positive MSCs in healthy adulthood that participates in the turnover of lung cartilage and in lung airway epithelium renewal. These findings may improve our knowledge about the biology of the cartilage and of the stem cells, and could provide new cell candidates for cartilage tissue engineering and for therapy for devastating pulmonary diseases

Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine

Abstract Gynecologic cancers are among the leading causes of death worldwide, ovarian cancer being the one with the highest mortality rate. Olaparib is a targeted therapy used in patients presenting mutations in BRCA1 and BRCA2 genes. The aim of this study was to describe BRCA1 and BRCA2 gene variants in Mexican patients with ovarian cancer. Sequencing of BRCA1 and BRCA2 genes from tumors of 50 Mexican patients with ovarian cancer was made in a retrospective, non-randomized, and exploratory study. We found genetic variants in 48 of 50 cases. A total of 76 polymorphic variants were found in BRCA1, of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in BRCA2, of which 63 (60%) had not been reported previously. Of these polymorphisms, 5/76 (6.6%) and 4/104 (3.8%) were classified as pathogenic in BRCA1 and BRCA2, respectively. We have described the genetic variants in BRCA1 and BRCA2 of tumors from Northeast Mexican patients with sporadic ovarian cancers. Our results showed that the use of genetic testing helps recognize patients that carry pathogenic variants which could be beneficial for personalized medicine treatments. Keywords: BRCA; ovarian cancer; personalized therapy; sequencin

A case report of small bowel perforation secondary to cytomegalovirus related immune reconstitution inflammatory syndrome in an AIDS patient

Non-traumatic small bowel perforation is rare in adults but carries a high morbidity and mortality. The diagnosis is made on clinical suspicion, and the most common causes in developing countries are infectious diseases, being cytomegalovirus infection in immunocompromised patients the main etiology. We describe a patient with a recently diagnosed advanced stage HIV infection and an intestinal perforation associated with cytomegalovirus immune reconstitution inflammatory syndrome after highly active antiretroviral therapy initiation.•Cytomegalovirus (CMV) is the main etiology of non-traumatic perforation of the small bowel in immunocompromised individuals.•We describe a case of CMV associated Immune reconstitution inflammatory syndrome.•To our knowledge this is the first case of small bowel perforation due to IRIS related CMV.•It is of importance for the clinician to consider CMV related IRIS as a cause of acute abdomen