Diagnostic potential of protein serum biomarkers for distinguishing small and non-small cell lung cancer in patients with suspicious lung lesions.

BACKGROUND: Biomarkers play a role in identifying, managing, and predicting cancer outcomes. In lung cancer, they are used at various time points. Doubts remain regarding their accuracy for differential diagnosis and histological subtyping. A diagnostic test study was conducted. It included malignant lesions and controls with benign lesions. Before lung biopsy, all patients had the following biomarkers measured in serum (Pro-GRP,NSE,CYFRA21-1,SCC-Ag,CEA). METHODS: The predictive capacity of serum biomarkers was evaluated to discriminate between lung cancer and benign pathology. The accuracy was also assessed for distinguishing between SCLC and NSCLC and explored their ability to perform histological subtyping. RESULTS: 93 patients were included, 60 with lung cancer, 33 with benign pathology. Pro-GRP and NSE were elevated in SCLC compared with NSCLC or nonmalignant disease. The most accurate for differentiating between malignant and benign pathology were CEA and CYFRA21-1. Pro-GRP had a poor predictive capacity for distinguishing NSCLC from SCLC. However, combined with CEA and CYFRA21-1, performance improved. For SCLC, the diagnostic capacity of Pro-GRP increased by combining with biomarkers, such as NSE/CYFRA21-1. CONCLUSIONS: Biomarkers lacked the sensitivity and specificity for independent differential diagnosis or histological subtyping. However, the observed patterns in biomarker levels associated with specific histological subtypes suggest potential utility in a multi-biomarker approach or in conjunction with other diagnostic tools. This insight could guide future research to improve diagnostic accuracy and personalized treatment strategies in lung cancer.

Biomarkers are crucial for identifying, managing, and predicting outcomes in lung cancer, though they lack accuracy in differentiating histological subtypes.CEA and CYFRA21-1 were the most accurate biomarkers for distinguishing between malignant and benign pathology.Pro-GRP and NSE levels were elevated in SCLC compared to NSCLC. Pro-GRP alone had poor predictive capacity for differentiating NSCLC from SCLC, but combining it with CEA and CYFRA21-1 improved diagnostic performance.Patterns in biomarker levels suggest that a multi-biomarker approach, especially when combined with other diagnostic tools, could improve diagnostic accuracy.

Primary thymus tumors: retrospective case analysis at a reference center in Latin America, 2011-2019.

BACKGROUND: Thymic tumors are unusual neoplasms, representing 0.2 to 1.5% of tumors in humans, but correspond to 20% of mediastinal tumors and 50% of those that occur in the anterior mediastinum. They tend to appear around the fourth and fifth decades of life without gender predilection. Up to 30% of patients are asymptomatic, therefore many are incidentally diagnosed. Radical thymectomy is the treatment of choice with high survival rates when detected in the early stages. METHODS: This was a retrospective descriptive study, including 18 adult patients' diagnosis of thymic neoplasm, who were managed with surgical resection from 2011 to 2019. Information about demographics, clinical characteristics, imaging findings, surgical and medical management, plus histological findings was obtained and reported. RESULTS: 18 patients with thymic tumors were included, of which specific histologic studies reveled thymomas, carcinomas, neuroendocrine tumors, thymolipoma and thymic cyst. Mean age was 52.7 years, with a predominance of male population. The main symptom was dyspnea, followed by cough and chest pain. Paraneoplastic syndromes such as myasthenia gravis, aplastic anemia and Cushing syndrome were reported. 89% of cases were treated by radical thymectomy alone, while only 2 cases required chemotherapy and radiotherapy. There were no surgical complications. Mean hospital stay length was 11. 9 days, with only 1 mortality during hospital admission. 5-year survival rate was 81%. CONCLUSIONS: The treatment of choice is radical thymectomy, which has been shown to positively impact patient mortality. Early detection is key to improve patient outcomes.

[Importance of early detection of hemoglobinopathies in the pediatric population in developing countries]. / Importancia de la detección temprana de hemoglobinopatias en la población pediátrica en países en desarrollo.

OBJECTIVE: The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide. PATIENTS AND METHOD: Retrospective study of the results of capillary electropho resis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from me dical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee. RESULTS: Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE. DISCUSSION: We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.

Lipoma-like hibernoma of the breast: A case report and literature review.

Hibernomas are uncommon and benign tumors made up of brown fat cells. These tumors are typically found in the thigh, axillae, shoulder, back, neck, thorax, arm, and retroperitoneum. There are 4 histological variants of hibernomas, including the typical pattern, myxoid, lipoma-like, and spindle cell variant. The lipoma-like variant is characterized by numerous univacuolated adipocytic cells with intermingled multivacuolated granular cells. It is worth noting that lipoma-like hibernoma in the breast is infrequent. In this case, we present a 72-year-old woman with a history of moderately differentiated cholangiocarcinoma, obesity, and no family history of breast cancer. She consulted for a mass sensation in her right breast that had been present for a year. The mass was not painful and showed no inflammation or nipple discharge. Upon physical examination, a palpable 14 cm mass was identified, occupying the 2 internal quadrants and causing deformation of the surface of the right breast. Imaging studies indicated a solid mass in the lower-inner quadrant of the right breast, which was oval-shaped, well-defined, and displayed internal vascularization. Initially, a diagnosis of low-grade liposarcoma was considered, leading to a core needle biopsy guided by ultrasound. However, the histopathology study revealed a lipoma-like hibernoma, an exceedingly rare benign lesion. Lipoma-like hibernoma can present as a palpable mass or may be incidentally discovered. It should be considered in the differential diagnosis of any lesion containing fatty content. Imaging methods may suggest its presence, but histopathology confirms the diagnosis and its accuracy prevents needless overtreatment.

Severe cryptogenic bronchiolitis: Case report.

Bronchiolitis obliterans (BO) is a progressive fibrotic process that predominantly affects the small airways and is identified as constrictive bronchiolitis by pathologists. It is commonly associated with allogeneic hematopoietic stem cell transplant (HSCT), lung transplant, exposure to inhaled toxins, post-infectious processes, autoimmune diseases, and sometimes, no known cause. In the latter case, it is referred to as cryptogenic bronchiolitis obliterans. A 52-year-old Hispanic man with a medical history of hypertension, diabetes mellitus, and coronary artery disease was referred to the pulmonary department due to experiencing dyspnea on exertion, intermittent dry cough, and progressive limitation of activities of daily living. Spirometry revealed severe obstructive changes, and chest high-resolution computed tomography showed ground-glass opacities with nodular infiltrates in the upper lobes, leading to a presumptive diagnosis of hypersensitivity pneumonitis. The patient underwent a lung surgical biopsy of the right upper and lower lobes, which revealed extensive constrictive bronchiolitis. Due to the patient's worsening general condition, bilateral lung transplantation succeeded without any further complications. Following the transplantation, the patient showed good recovery and functional improvement. Bronchiolitis obliterans, or constrictive bronchiolitis, has a variable natural history. It is associated with a higher risk of mortality in allogenic HSCT. When BO is secondary to inhalation of toxic gases, it is usually nonprogressive and limited to toxin exposure. Autoimmune diseases or cryptogenic bronchiolitis are rare and have a heterogeneous clinical course. To make a proper diagnosis, clinical history, radiologic and histologic findings must be considered.

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA), medical treatment of severe systemic compromise: case report.

Case description: A 42-year-old woman with severe pulmonary and mediastinal inflammatory involvement, secondary to infiltration of a silicone-related allogenic material with systemic migration. Clinical findings: The patient developed esophageal and bronchial stenosis, recurrent infections, malnutrition, and respiratory deterioration, making surgical removal of the allogenic material impossible. Treatment and outcome: Clinical and radiological improvement was achieved after treatment with multiple intravenous and oral immunomodulators. Clinical relevance: Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a heterogeneous disease resulting from exposure to allogenic substances in a susceptible subject. These substances cause autoimmune or autoinflammatory phenomena. Since ASIA was described ten years ago, its diagnostic criteria are still under discussion, with an uncertain prognosis. The ideal therapy is based on eliminating the causative substance, but this is not always possible. Therefore, it is necessary to start an immunomodulatory treatment, using it in this patient, a scheme that had not been previously reported in the literature.

Descripción del caso: Mujer de 42 años con compromiso inflamatorio pulmonar y mediastinal severo, secundario a infiltración de un material alogénico relacionado con la silicona con migración sistémica. Hallazgos clínicos: La paciente desarrolló estenosis esofágica y bronquial, infecciones recurrentes, desnutrición y deterioro respiratorio, imposibilitando la extracción quirúrgica del material alogénico. Tratamiento y resultado: Mejoría clínica y radiológica lograda tras un tratamiento con múltiples inmunomoduladores intravenosos y orales. Relevancia clínica: El síndrome autoinmune / inflamatorio inducido por adyuvantes (ASIA) es una enfermedad heterogénea que resulta de la exposición a sustancias alógenas en un sujeto con susceptibilidad genética. Estas sustancias inducen fenómenos autoinmunitarios o autoinflamatorios. Desde que ASIA fue descrito hace 10 años, sus criterios diagnósticos continúan en discusión, con un pronóstico incierto. El tratamiento idóneo se basa en eliminar la sustancia causante, pero no siempre es posible, por lo cual se hace necesario iniciar un tratamiento inmunomodulador, empleándose en esta paciente un esquema que no había sido reportado previamente en la literatura.

Idiopathic gigantomastia exacerbated during pregnancy. Its relationship with autoimmunity: A case report.

Gigantomastia is a rare entity characterized by diffuse and excessive breast enlargement. It mainly occurs during puberty and pregnancy as a consequence of hormonal fluctuations. We report an unusual case of gigantomastia in a 29-year-old woman with a history of personal and familiar autoimmune phenomena. She had autoimmune thyroiditis and several positive autoantibodies, and developed 3 crises of the disease, 1 related to pregnancy (possibly hormone-mediated), and 2 unrelated to pregnancy in which an autoimmune role is raised based in clinical, histological and laboratory findings. Immunological aspects that may be involved in this presentation of the disease are discussed.

Thoracic Computed Tomography Scan and Bronchoscopy Appearance of Mounier-Kuhn Syndrome: A Case Report.

Mounier-Kuhn syndrome (MKS) is a rare congenital disease with an autosomal recessive inheritance pattern, characterized by an enlargement of the trachea and bronchi. MKS is secondary to a thinning of the muscular mucosa and atrophy of the longitudinal muscle and elastic fibers of the tracheobronchial tree. As a consequence, tracheal diverticulosis and dilatations in the posterior membranous wall appear, along with bronchiectasis that tend to be cystic in appearance. Overall, there is an impairment of mucocilliary clearance, with an ineffective cough, which predisposes the patient to recurrent lower respiratory tract infections. Clinical manifestations vary from asymptomatic to respiratory failure and death, most patients being diagnosed between the third and fourth decades of life. It is an often undiagnosed disease, with a diagnostic algorithm that includes the use of radiological techniques, alone or in combination with bronchoscopy. Specific diagnostic criteria have been developed, based on patients' tracheal and main bronchi diameter on chest X-ray and thoracic computed tomography scan. We present the case of a 45-year-old African American man who presented with a history of multiples episodes of pneumonia that required management in the intensive care unit, on whom MKS was diagnosed.

Tracheobronchopathia Osteochondroplastica-Clinical, Radiological, and Endoscopic Correlation: Case Series and Literature Review.

Tracheobronchopathia osteochondroplastica (TO) is a rare idiopathic and benign disease that is often underdiagnosed. TO is characterized by multiple submucosal cartilaginous and osseous tracheobronchial nodules that spare the posterior wall. It usually affects the elderly, developing when the person is around 60 years old without gender preference and has a reported incidence of 0.11%. TO can be symptomatic and should be considered in patients with chronic cough, dyspnea, and recurrent pulmonary infections. Diagnosis is usually incidental by computed tomography or bronchoscopy, the latter being the gold standard diagnostic test for TO. Many thoracic imagers are not well acquainted with TO; thus, these patients are often underdiagnosed or misdiagnosed. We came across 5 patients in our institution who were incidentally diagnosed with TO, inspiring us to review the available literature on this disease. A total of 33 patients diagnosed with TO between 2009 and 2019 were identified by our retrospective review. Clinical and imaging data were collected on these patients. We also included the clinical, radiological, and endoscopic data of our 5 cases. TO should be considered in patients with chronic cough, dyspnea, and recurrent pulmonary infections. Our experience is that both computed tomography and bronchoscopy can be used to make a reliable diagnosis. It is crucial for physicians, especially radiologists and pulmonologists, to be aware of the existence of TO in order to ensure proper diagnosis.

Video-Assisted Thoracoscopic Lung Biopsy in Critically Ill Patients With Hematologic Malignancy and Acute Respiratory Distress Syndrome: A Case Series Report.

Pulmonary complications are prevalent among patients with hematologic malignancies, who are at high risk of developing acute respiratory distress syndrome (ARDS). Although diffuse alveolar damage is considered the diagnostic hallmark of ARDS, there are plenty of other non-diffuse alveolar damage etiologies that can mimic ARDS and benefit from a specific therapy, therefore correcting the underlying cause. When the etiology remains unclarified despite noninvasive procedures, a surgical lung biopsy (either open via thoracotomy or video-assisted thoracoscopic surgery [VATS]) may be warranted. However, the role of surgical lung biopsy has not been extensively studied in patients with hematologic malignancy and ARDS and so doubt exists about the risk-benefit relationship of such procedures. In this article, we report a series of 8 critically ill patients with hematologic malignancies and ARDS, who underwent VATS lung biopsy, in a specialized institution in Cali, Colombia, from 2015 to 2019, with special emphasis on its diagnostic yield, modifications in treatment protocol, and safety. VATS lung biopsy is a minimally invasive procedure that appears to be a relatively safe with few postoperative complications and minimal perioperative mortality. It has a high diagnostic yield, resulting in a modification of treatment in a nondepreciable percentage of patients. However, this subset of patients was critically ill, with a high risk of mortality, and the lung biopsy did not appear to affect in this aspect. Future randomized controlled trials are needed to further clarify this topic.

The porcine biomodel in translational medical research: From biomodel to human lung transplantation / El biomodelo porcino en la investigación médica traslacional: del biomodelo al humano en trasplante pulmonar.

Introduction: Human and porcine anatomy are comparable. In consequence, the porcine biomodel has the potential to be implemented in the training of surgical professionals in areas such as solid organ transplantation. Objectives: We described the procedures and findings obtained in the experiments of translational respiratory medicine with the porcine biomodel, within an experimentation animal laboratory, and we present a comparative review between human and porcine lung. Materials and methods: The experiment was done in nine pigs of hybrid race within a laboratory of experimental surgery. The anatomy and histology of the respiratory tract were studied with fibrobronchoscopy, bronchial biopsy and bronchoalveolar lavage. The bronchoalveolar lavage was studied with liquid-based cytology and assessed with Papanicolau and hematoxylin-eosin staining. Molecular pathology techniques such as immunohistochemistry, flow cytometry, and electronic microscopy were implemented. The pigs were subjected to left pneumonectomy with posterior implantation of the graft into another experimental pig. Results: Histopathologic and molecular studies evidenced predominance of alveolar macrophages (98%) and T-lymphocytes (2%) in the porcine bronchoalveolar lavage. Studies on the porcine lung parenchyma revealed hyperplasic lymphoid tissue associated with the bronchial walls. Electronic microscopy evidenced the presence of T-lymphocytes within the epithelium and the cilia diameter was similar to the human. Conclusions: The porcine biomodel is a viable tool in translational research applied to the understanding of the respiratory system anatomy and the training in lung transplantation. The implementation of this experimental model has the potential to strength the groups who plan to implement an institutional program of lung transplantation in humans.

Introducción. La anatomía humana y porcina son comparables. En consecuencia, el biomodelo porcino tiene el potencial de ser implementado para entrenar al profesional quirúrgico en áreas como el trasplante de órganos sólidos. Objetivo. Describir los procedimientos y hallazgos obtenidos mediante experimentos de medicina respiratoria traslacional con biomodelos porcinos realizados en un laboratorio de experimentación animal, y hacer una revisión comparativa entre el pulmón humano y el porcino. Materiales y métodos. El experimento se llevó a cabo en nueve cerdos de raza híbrida en un laboratorio de cirugía experimental. Se estudiaron la anatomía y la histología de las vías respiratorias mediante fibrobroncoscopia, biopsia bronquial y lavado broncoalveolar. El lavado broncoalveolar se estudió con citología en base líquida y se evaluó con las coloraciones de Papanicolau y hematoxilina y eosina. Se utilizaron técnicas de patología molecular, como inmunohistoquímica, citometría de flujo y microscopía electrónica. Los cerdos se sometieron a neumonectomía izquierda con posterior implante del injerto en otro cerdo experimental. Resultados. Los estudios histopatológicos y moleculares evidenciaron un predominio de macrófagos alveolares (98 %) y linfocitos T (2 %) en el lavado broncoalveolar porcino. En los estudios del parénquima pulmonar porcino se encontró tejido linfoide hiperplásico asociado a las paredes bronquiales. La microscopía electrónica evidenció linfocitos T dentro del epitelio y el diámetro de las cilias porcinas fue similar al de las humanas. Conclusiones. El biomodelo porcino es viable en la investigación traslacional para el entendimiento de la anatomía del sistema respiratorio y el entrenamiento en trasplante pulmonar. La implementación de este modelo experimental podría fortalecer los grupos que planean implementar un programa institucional de trasplante pulmonar en humanos.

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

BACKGROUND: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues. CASE PRESENTATION: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings. RESULTS: Whole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function. CONCLUSION: To our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype-phenotype correlation and is useful for providing better genetic counseling.

Hypophysitis an uncommon manifestation of IgG4-related disease: Case report

IgG4-related disease is a recently described disease that can involve various organs and systems. Single organ involvement is the exception to the rule, it is generally a multi-system entity. We present a 36-year-old woman, with no previous pathological history or autoimmune disease, with headache caused by cystic macroadenoma. A transsphenoidal resection was performed and pathology documented areas of fibrosis with a predominantly plasmolymphocytic infíltrate and positive IgG4 staining in more than 20 cells per high-power field, meeting diagnostic criteria for IgG4-related sclerosing disease. Involvement of other organs was ruled out, and the patient improved clinically after management.

La enfermedad relacionada con IgG4 es una entidad recientemente descrita, capaz de involucrar diversos órganos y sistemas. El compromiso de órganos aislados es la excepción a la regla, dado que generalmente se trata de una entidad multisistémica. Se presenta el caso de una mujer de 36 años, sin antecedentes patológicos previos, en quien como causa de cefalea se documenta un macroadenoma quístico llevado a resección transesfenoidal, cuyo resultado de patología documenta zonas de fibrosis con infiltrado de predominio plasmo-linfocitario y la tinción para IgG4 positiva en más de 20 células por campo de alto poder, lo que configura criterios diagnósticos para enfermedad esclerosante relacionada con IgG4; se descartó compromiso de otros órganos y hubo mejoría clínica posterior al manejo.

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA), medical treatment of severe systemic compromise: case report

Case description: A 42-year-old woman with severe pulmonary and mediastinal inflammatory involvement, secondary to infiltration of a silicone-related allogenic material with systemic migration. Clinical findings: The patient developed esophageal and bronchial stenosis, recurrent infections, malnutrition, and respiratory deterioration, making surgical removal of the allogenic material impossible. Treatment and outcome: Clinical and radiological improvement was achieved after treatment with multiple intravenous and oral immunomodulators. Clinical relevance: Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a heterogeneous disease resulting from exposure to allogenic substances in a susceptible subject. These substances cause autoimmune or autoinflammatory phenomena. Since ASIA was described ten years ago, its diagnostic criteria are still under discussion, with an uncertain prognosis. The ideal therapy is based on eliminating the causative substance, but this is not always possible. Therefore, it is necessary to start an immunomodulatory treatment, using it in this patient, a scheme that had not been previously reported in the literature.

Descripción del caso: Mujer de 42 años con compromiso inflamatorio pulmonar y mediastinal severo, secundario a infiltración de un material alogénico relacionado con la silicona con migración sistémica. Hallazgos clínicos: La paciente desarrolló estenosis esofágica y bronquial, infecciones recurrentes, desnutrición y deterioro respiratorio, imposibilitando la extracción quirúrgica del material alogénico. Tratamiento y resultado: Mejoría clínica y radiológica lograda tras un tratamiento con múltiples inmunomoduladores intravenosos y orales. Relevancia clínica: El síndrome autoinmune / inflamatorio inducido por adyuvantes (ASIA) es una enfermedad heterogénea que resulta de la exposición a sustancias alógenas en un sujeto con susceptibilidad genética. Estas sustancias inducen fenómenos autoinmunitarios o autoinflamatorios. Desde que ASIA fue descrito hace 10 años, sus criterios diagnósticos continúan en discusión, con un pronóstico incierto. El tratamiento idóneo se basa en eliminar la sustancia causante, pero no siempre es posible, por lo cual se hace necesario iniciar un tratamiento inmunomodulador, empleándose en esta paciente un esquema que no había sido reportado previamente en la literatura.

Importancia de la detección temprana de hemoglobinopatias en la población pediátrica en países en desarrollo / Importance of early detection of hemoglobinopathies in the pediatric population in developing countries

OBJETIVO: Alertar al personal de la salud sobre la importancia de la detección temprana de las he- moglobinopatías, dado que es el trastorno monogénico recesivo más frecuente. Pacientes y MÉTODO: Estudio retrospectivo del resultado de eletroforesis capilar (CE) de 152 pacientes entre 0 y 18 años que durante el año 2017 fueron evaluados por sospecha de hemoglobinopatías en un Hospital Universitario de Colombia. La información se tomó de los registros médicos y del Laboratorio de Hematología y Hemostasia, asegurando la privacidad de los datos y aprobado por el Comité de Ética local. RESULTADOS: De 152 pacientes, 48,6% tenía entre 7 y 18 años. La frecuencia de hemoglobinopatías fue de 42,7%. La variante más frecuente fue el rasgo de células falciformes (Hb S) con 14,5%. El hematólogo fue el profesional que más frecuentemente solicitó EC. DISCUSIÓN: Se detectó que las hemoglobinopatías se diagnostican usualmente en niños mayores de siete años. Esto puede favorecer las complicaciones y progresión de la enfermedad, y aumento en los costos de la salud. Se requiere más información y educación a los médicos generales y pediatras para un diagnóstico más temprano.

OBJECTIVE: The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide. PATIENTS AND METHOD: Retrospective study of the results of capillary electropho resis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from me dical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee. RESULTS: Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE. DISCUSSION: We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.

Utility of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) with rapid on-site evaluation (ROSE) for the molecular classification of progressive breast cancer / Utilidad de la aspiración transbronquial con aguja guiada por ultrasonido endobronquial con evaluación rápida in situ para la clasificación de cáncer de mama progresivo

Abstract Evidence of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in extrathoracic malignancy is limited but emergent. The technique plays a vital role in the diagnosis of mediastinal lesions, staging, and restaging of lung cancer. Its usefulness for the evaluation and molecular classification of progressive breast cancer is described in 7 patients. Stations 7, 11L, and 11R were punctured. Cellblocks, immunohistochemistry and digital analysis were developed in 100% of the cases for molecular classification. This procedure requires multidisciplinary evaluation, image analysis, and evaluation of the general condition of the patient, as well as the risks and benefits. Additionally, it is essential teamwork with a pathology group that performs the rapid on-site evaluation (ROSE), in order to ensure the quality of the samples and molecular characterization.

Resumen Evidencia de la aspiración transbronquial con aguja guiada por ultrasonido endobronquial en malignidad extratorácica es limitada pero emergente. Esta técnica desempeña un papel vital en el diagnóstico de lesiones mediastinales, estadificación y reestadificación del cáncer pulmonar. Se describe su utilidad para la evaluación y la clasificación molecular del cáncer de mama en progresión de siete pacientes. Se puncionaron las estaciones (ganglionares) 7, 11L y 11R. Se desarrollaron bloques celulares, inmunohistoquímica y análisis digital en el 100% de los casos para clasificación molecular. Este procedimiento requiere una evaluación multidisciplinaria, análisis de imágenes y la evaluación del estado general de la paciente, lo mismo que los riesgos y los beneficios. Adicionalmente, es esencial el trabajo conjunto con un grupo de patología que realice la evaluación rápida en sala (ROSE), para así asegurar la calidad de las muestras y la caracterización molecular.

El biomodelo porcino en la investigación médica traslacional: del biomodelo al humano en trasplante pulmonar / The porcine biomodel in translational medical research: From biomodel to human lung transplantation

Resumen Introducción. La anatomía humana y porcina son comparables. En consecuencia, el biomodelo porcino tiene el potencial de ser implementado para entrenar al profesional quirúrgico en áreas como el trasplante de órganos sólidos. Objetivo. Describir los procedimientos y hallazgos obtenidos mediante experimentos de medicina respiratoria traslacional con biomodelos porcinos realizados en un laboratorio de experimentación animal, y hacer una revisión comparativa entre el pulmón humano y el porcino. Materiales y métodos. El experimento se llevó a cabo en nueve cerdos de raza híbrida en un laboratorio de cirugía experimental. Se estudiaron la anatomía y la histología de las vías respiratorias mediante fibrobroncoscopia, biopsia bronquial y lavado broncoalveolar. El lavado broncoalveolar se estudió con citología en base líquida y se evaluó con las coloraciones de Papanicolau y hematoxilina y eosina. Se utilizaron técnicas de patología molecular, como inmunohistoquímica, citometría de flujo y microscopía electrónica. Los cerdos se sometieron a neumonectomía izquierda con posterior implante del injerto en otro cerdo experimental. Resultados. Los estudios histopatológicos y moleculares evidenciaron un predominio de macrófagos alveolares (98 %) y linfocitos T (2 %) en el lavado broncoalveolar porcino. En los estudios del parénquima pulmonar porcino se encontró tejido linfoide hiperplásico asociado a las paredes bronquiales. La microscopía electrónica evidenció linfocitos T dentro del epitelio y el diámetro de las cilias porcinas fue similar al de las humanas. Conclusiones. El biomodelo porcino es viable en la investigación traslacional para el entendimiento de la anatomía del sistema respiratorio y el entrenamiento en trasplante pulmonar. La implementación de este modelo experimental podría fortalecer los grupos que planean implementar un programa institucional de trasplante pulmonar en humanos.

Abstract Introduction: Human and porcine anatomy are comparable. In consequence, the porcine biomodel has the potential to be implemented in the training of surgical professionals in areas such as solid organ transplantation. Objectives: We described the procedures and findings obtained in the experiments of translational respiratory medicine with the porcine biomodel, within an experimentation animal laboratory, and we present a comparative review between human and porcine lung. Materials and methods: The experiment was done in nine pigs of hybrid race within a laboratory of experimental surgery. The anatomy and histology of the respiratory tract were studied with fibrobronchoscopy, bronchial biopsy and bronchoalveolar lavage. The bronchoalveolar lavage was studied with liquid-based cytology and assessed with Papanicolau and hematoxylin-eosin staining. Molecular pathology techniques such as immunohistochemistry, flow cytometry, and electronic microscopy were implemented. The pigs were subjected to left pneumonectomy with posterior implantation of the graft into another experimental pig. Results: Histopathologic and molecular studies evidenced predominance of alveolar macrophages (98%) and T-lymphocytes (2%) in the porcine bronchoalveolar lavage. Studies on the porcine lung parenchyma revealed hyperplasic lymphoid tissue associated with the bronchial walls. Electronic microscopy evidenced the presence of T-lymphocytes within the epithelium and the cilia diameter was similar to the human. Conclusions: The porcine biomodel is a viable tool in translational research applied to the understanding of the respiratory system anatomy and the training in lung transplantation. The implementation of this experimental model has the potential to strength the groups who plan to implement an institutional program of lung transplantation in humans.

Estaciones automatizadas preanalíticas en el laboratorio de hemostasia. Estudio observacional descriptivo prospectivo, realizado en un hospital universitario de referencia entre el 15 de abril y 15 de julio de 2017 / Automated preanalytical units in the hemostasis laboratory: an observational descriptive prospective study developed in a university hospital between April 15 to July 15, 2017

RESUMEN Introducción: los errores del proceso de análisis de las muestras del laboratorio clínico, impactan negativamente a la práctica médica, la seguridad del paciente e incrementan los costos de atención en la salud. El uso de estaciones automatizadas demostró una disminución de los errores en los laboratorios clínicos de inmunoquímica y hematología. Se propone comparar las primeras estaciones automatizadas de hemostasia con el método manual para determinar los interferentes en las muestras de cinco servicios del hospital durante tres meses. Métodos: estudio observacional descriptivo prospectivo de corte trasversal. Las muestras que ingresaron al laboratorio clínico fueron analizadas por la estación automatizada y el método manual. Las interferentes bilirrubinas, hemoglobina, lipemia, volumen de llenado del tubo y obstrucción fluídica-coágulo se estudiaron con ambos métodos. Se realizó el análisis estadístico y se calculó el índice kappa para determinar la fuerza de la concordancia entre los métodos. Resultados: de 8.970 muestras analizadas, 29 % provinieron del servicio de urgencias. Las muestras aportadas por la unidad de cuidado intensivo reportaron más interferentes con ambos métodos; la estación automatizada reportó más interferentes que el método manual, con un índice kappa 0,52; la bilirrubina fue el interferente más detectado por ambos métodos. El método manual no evidenció el interferente volumen de llenado del tubo ni obstrucción fluídica-coágulo, los cuales fueron detectados por la estación automatizada. Conclusiones: la estación automatizada detectó más interferentes en comparación con el método manual. Los interferentes son errores preanalíticos en el laboratorio de hemostasia y son detectados con poca frecuencia de forma visual, especialmente los interferentes volúmenes de llenado del tubo y obstrucción fluídica-coágulo.

SUMMARY Introduction: Errors in the process of analyzing a clinical laboratory sample have a negative impact on medical practice, patient safety and health care cost. The use of automated units demonstrated the reduction of errors in the clinical laboratories of immunochemistry and hematology. The purpose of the study is to compare the first automated unit with a manual method and to determine the interferences informed in the samples provided by five services studied in the hospital for three months. Methods: A prospective descriptive study was developed. The automated unit and manual method analyzed all analytical requested samples received by the clinical laboratory. Interferences such as bilirubin, hemoglobin, lipemic, tube filling volume, and fluidclot obstruction were studied with both methods. The statistical analysis was performed and the kappa coefficient was calculated to determine the strength of agreement between both methods. Results: Of the 8.970 samples analyzed, 29 % came from the emergency service. The samples contributed by the intensive united care reported more interferences with both methods. The automated unit reported more interference than the manual method, with a kappa coefficient of 0,52. Bilirubin was the most commonly detected interference by both methods. The manual method did not show the interferences volume of tube filling or fluidic obstruction-clot, which have been detected by the automated unit. Conclusions: Automated unit detected more interference in comparison with the manual method. The interferences are preanalytical errors in the hemostasis laboratory and are less frequently detected by visual examination, especially interferences volume of tube filling or fluidic obstruction-clot.

Detección rápida de metástasis en ganglio centinela y comparaciónde diferentes técnicas en carcinomas de mama de bajo grado / Rapid detection of sentinel lymph node metastases in different techniques and comparison in low-grade breast carcinomas

Introduction: The role of sentinel node biopsy has revolutionized breast cancer treatment. This determinationreduces the mobility of a complete axillary lymphadenectomy. The aim of our study is to analyze the value of sentinel node in low-grade histological breast tumors, studied with hematoxylin and eosin techniques, mmunohistochemistry,and molecular chain reaction in real-time quantitative polymerase (RT-PCR). Materials and methods: In a pilot study we studied a total of 21 patients with histological diagnosis of mucinous carcinoma, adenoid cystic carcinoma, and medullar carcinoma that underwent the sentinel node technique. Once the lymph node was removed, it was sent to pathology, where it was fragmented and evaluated, using between 25% and 50% of the lymph node for molecular biology laboratory studies. Results: The sentinel nodes studied were 32, corresponding to the 21 patients. Of the 32 lymph nodes analyzed, 29 (90.6%) were negative on histopathological examination and the molecular identification, 2 (6.2%) were positive in both techniques and 1 (3.125%) lymph node was positive with quantitative RT-PCR and negative in histology (H&E), which – subsequently by immunohistochemistry (IHC) – was diagnosed as isolated tumor cells (ITC). Conclusion: When comparing the techniques of hematoxylin and eosin, immunohistochemistry, and molecularRT-PCR technique, we found greater sensitivity of molecular techniques; this can reduce the false negative andimprove diagnosis of sentinel node metastases. Patients with low histological grade carcinomas have high survivalrates, less aggressive tumor behavior, and reduced lymph node at diagnosis.