RESUMO

La ictiosis arlequín, también conocida como queratosis difusa fetal, es un trastorno cutáneo hereditario, extremadamente raro y grave desde el punto de vista fenotípico, con herencia autosómica recesiva. La enfermedad es causada por mutaciones en el gen de la proteína transportadora de casetes de unión a trifosfato de adenosina (ABCA12). La ecografía prenatal y el análisis genético son importantes para el diagnóstico prenatal. El diagnóstico ecográfico prenatal es difícil y los hallazgos incluyen placas de ectropión, pabellón auricular anormal, nariz plana, piel engrosada con apariencia de armadura, labios engrosados con estado sostenido de boca abierta (boca de pez) y fijación en flexión de las extremidades. Estas generalmente son encontradas durante el tercer trimestre. La ecografía tridimensional contribuye a la evaluación de la morfología facial. El pronóstico es generalmente desfavorable. Los neonatos afectados no suelen sobrevivir más allá de los primeros días de vida. Se presenta un caso de diagnóstico prenatal de ictiosis arlequín.

Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and phenotypically severe hereditary skin disorder with autosomal recessive inheritance. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein (ABCA12) gene. Prenatal ultrasonography and genetic analysis are important for prenatal diagnosis. Prenatal ultrasonographic diagnosis is difficult, and findings include ectropion plates, an abnormal auricular pinna, a flat nose, thickened skin with an armor-like appearance, thickened lips with sustained open mouth (fish mouth) status, and flexion fixation of the extremities. These are usually found during the third trimester. Three-dimensional ultrasonography contributes to the evaluation of facial morphology. The prognosis is generally poor. Affected neonates usually do not survive beyond the first days of life. A case of prenatal diagnosis of harlequin ichthyosis is presented.

RESUMO

Introducción: El carcinoma basocelular sólido es el tumor más frecuente de piel con un grado de malignidad limitada que rara vez metastiza, a pesar de esto se detectan cada vez más personas que sufren este tipo de cáncer, lo que indica una falla en su diagnóstico y tratamiento oportuno. Los estudios morfométricos se hacen necesarios por el valor que aportan en el diagnóstico histológico y el pronóstico de la enfermedad. Objetivo: Describir el comportamiento de indicadores morfométricos como el área nuclear, volumen nuclear y factor de forma nuclear de las células tumorales del carcinoma basocelular sólido. Métodos: Se realizó un estudio de serie de casos de siete pacientes con el diagnóstico de carcinoma basocelular sólido de piel en el período septiembre 2018 a septiembre 2019 en la provincia Holguín. Se seleccionaron 300 campos y se midieron 1 777 núcleos celulares, lo que constituyó la muestra. Se caracterizaron indicadores morfométricos nucleares como el área, el volumen y el factor de forma. Se emplearon métodos teóricos y empíricos fundamentalmente, estos últimos basados en técnicas morfométricas. Resultados: La media aritmética del área nuclear es 130 µm2 y del volumen nuclear es 923 µm3, ambos están aumentados si se comparan con otros estudios realizados en piel sana envejecida. El factor de forma nuclear es 0,77, se acerca al valor 1 por lo que el pleomorfismo es bajo en el carcinoma basocelular. Conclusiones: Las células tumorales en el carcinoma basocelular sólido de piel se caracterizan por presentar núcleos que muestran un bajo pleomorfismo y un gran volumen, mayor que en el melanoma maligno, aunque menor que en la piel normal de personas mayores de 40 años.

Introduction: Solid basal cell carcinoma is the most frequent tumor of the skin with a limited degree of malignancy that rarely metastasizes, despite the fact that more and more people suffering from this type of cancer are being detected, which indicates a failure in its diagnosis and timely treatment. The morphometric studies are necessary due to the value they bring to the histological diagnosis and prognosis of the disease. Objective: To describe the behavior of morphometric indicators such as nuclear area, nuclear volume and nuclear shape factor of tumor cells from solid basal cell carcinoma. Methods: A study was carried out on a series of cases of 7 patients diagnosed with solid basal cell carcinoma of the skin from September 2018 to September 2019 in the province of Holguín. 300 fields were selected and 1 777 cell nuclei were averaged, which constituted the sample. Nuclear morphometric indicators such as area, volume and shape factor were characterized. Theoretical and empirical methods were used, the latter fundamentally based on morphometric techniques. Results: The arithmetic average of the nuclear area is 130 µm2 and of the nuclear volume is 923 µm3, both are increased if compared to other studies carried out on healthy, aged skin. The nuclear form factor is 0.77, it approaches the value 1 for that reason the pleomorphism is low in the basal cell carcinoma. Conclusions: The tumoral cells in solid basal cell carcinoma of the skin are characterized by presenting nuclei that show a low pleomorphism and a large volume, larger than in malignant melanoma, even smaller than in normal skin of people older than 40 years.

RESUMO

Trypanosoma cruzi, Trypanosoma brucei and Leishmania (Trypanosomatidae: Kinetoplastida) are parasitic protozoan causing Chagas disease, African Trypanosomiasis and Leishmaniases worldwide. They are vector borne diseases transmitted by triatomine bugs, Tsetse fly, and sand flies, respectively. Those diseases cause enormous economic losses and morbidity affecting not only rural and poverty areas but are also spreading to urban areas. During the parasite-host interaction, those organisms release extracellular vesicles (EVs) that are crucial for the immunomodulatory events triggered by the parasites. EVs are involved in cell-cell communication and can act as important pro-inflammatory mediators. Therefore, interface between EVs and host immune responses are crucial for the immunopathological events that those diseases exhibit. Additionally, EVs from these organisms have a role in the invertebrate hosts digestive tracts prior to parasite transmission. This review summarizes the available data on how EVs from those medically important trypanosomatids affect their interaction with vertebrate and invertebrate hosts.

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RESUMO

Las enfermedades perianales del adulto, de carácter no infeccioso y no neoplásico, son un motivo de consulta poco frecuente. Se caracterizan por la variedad de su etiología y de su sintomatología clínica, y plantean dificultad en el diagnóstico y en la terapéutica. El objetivo del presente trabajo es abordar una patología que plantea la necesidad de una intervención interdisciplinaria. Se incluyen consideraciones anatomopatológicas, clínicas y terapéuticas. (AU)

Noninfectious, non- neoplasic perianal affections are uncommon diseases. They are characterized by the variety of the etiology and clinical symptomatology, posing difficulty in diagnosis and therapeutics. The objective of this paper is to address a pathology that raises the need for interdisciplinary intervention anatomopathological, clinical and therapeutic considerations are included. (AU)

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ABSTRACT Objective: To describe the morphology of the supra- and infraumbilical linea nigra in puerperal women. Methods: The study was conducted from September 2017 to April 2018, and included 157 puerperal women admitted for childbirth care at the Obstetrics Department of a public maternity hospital of the city of São Paulo (SP), Brazil. The abdomen of subjects was photographed on the first or second day postpartum, with the patient lying symmetrically in dorsal decubitus at a standardized distance. Contrast was slightly adjusted and the morphological pattern of supra and infraumbilical linea nigra in the proximity of the umbilical scar was characterized. The images were independently analyzed by two researchers and only the matching results from both observers were used. Results: Of the 157 observed cases, 139 (88.5%) images provided concordant results between the two researchers. Excluding 41 cases of absence or poor definition of the linea nigra, 98 images were analyzed. Supra- and infraumbilical linea nigra were analyzed separately and classified according to three directions (left, center and right of the umbilical scar). The combination of the supra- and infraumbilical images resulted in the formation of nine distinct patterns, being the most prevalent, in primiparous (72.2%) and multiparous women (50.0%), and the authors named as "anticlockwise spiralization of the linea nigra". Conclusion: The analysis of supra- and infraumbilical linea nigra in puerperal women showed a predominance of what the authors named "anti-clockwise spiralization of the linea nigra sign".

RESUMO Objetivo: Descrever a morfologia da linea nigra supra e infraumbilical em puérperas. Métodos: O estudo foi realizado no período de setembro de 2017 a abril de 2018 e incluiu 157 puérperas admitidas para o parto no Serviço de Obstetrícia de uma maternidade pública da cidade de São Paulo (SP). O abdome das pacientes foi fotografado no primeiro ou segundo dia pós-parto, com a paciente deitada simetricamente em decúbito dorsal a uma distância padronizada. O contraste foi ligeiramente ajustado, e o padrão morfológico da linea nigra supra e infraumbilical na proximidade da cicatriz umbilical foi caracterizado. As imagens foram analisadas independentemente por dois pesquisadores, e apenas os resultados concordantes dos dois observadores foram utilizados. Resultados: Dos 157 casos observados, 139 (88,5%) imagens apresentaram resultados concordantes entre os dois pesquisadores. Excluindo 41 casos de ausência ou má definição da linea nigra, 98 imagens foram analisadas. As linea nigra supra e infraumbilicais foram analisadas separadamente e classificadas de acordo com três direções (esquerda, centro e direita da cicatriz umbilical). A combinação das imagens supra e infraumbilicais resultou na formação de nove padrões distintos, sendo os mais prevalentes nas primíparas (72,2%) e multíparas (50,0%), o que os autores denominaram "espiralamento anti-horário da linea nigra". Conclusão: A análise das linea nigra supra e infraumbilical em puérperas mostrou predominância do que os autores denominaram "sinal do espiralamento anti-horário da linea nigra".

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