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1.
Chest ; 166(2): e35-e39, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39122305

RESUMEN

CASE PRESENTATION: A 41-year-old man who currently smokes with previous sporadic use of cocaine and cannabinoids was admitted at the hospital suffering from hemoptysis which had developed 4 days before. The patient was on anticoagulant therapy with rivaroxaban due to paroxysmal atrial fibrillation diagnosed in 2018, for which he had undergone pulmonary vein electrical isolation by radiofrequency and ablation of cavotricuspid isthmus in January 2019. The procedure was completed in July 2019. Treatment with flecainide was introduced due to recurrences of atrial fibrillation. In February 2021, a new attempt at ablation was performed by electrical isolation of the left atrial posterior wall. The latest cardiologic checkup documented an echocardiographic framework of mild left atrial dilatation and normal-sized right ventricle with longitudinal shortening index at the lower limits, and a recurrence of asymptomatic atrial fibrillation at Holter ECG (March 2022).


Asunto(s)
Fibrilación Atrial , Hemoptisis , Humanos , Masculino , Adulto , Hemoptisis/etiología , Hemoptisis/diagnóstico , Fibrilación Atrial/complicaciones , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/cirugía , Ablación por Catéter/métodos , Ecocardiografía , Venas Pulmonares/cirugía , Venas Pulmonares/diagnóstico por imagen
2.
Minerva Med ; 114(2): 148-151, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34515456

RESUMEN

BACKGROUND: Chronic cough is a common symptom, addressed in the clinical setting by empirical treatment together with some laboratory investigations. The aim of the present study was to investigate the value of testing eosinophilic cationic protein (ECP) serum levels combined with other diagnostic procedures and empirical treatment in the diagnostic workup of chronic cough. METHODS: In this study, we evaluated 194 patients with chronic cough. No subject had received any anti-inflammatory treatment before clinical evaluation, and none was an active smoker. ECP was measured with a commercially available fluoroenzyme immunoassay and results were expressed as µg/L. RESULTS: The analysis of variance showed that mean ECP level differs among the various diagnosis categories (P<0.001). Mean ECP level was significantly higher in asthmatic patients, particularly in the active disease. CONCLUSIONS: Serum ECP concentration could represent a useful biomarker in the clinical work-up of chronic cough, managing to differentiate asthma from other chronic disorders.


Asunto(s)
Asma , Tos , Humanos , Eosinófilos , Proteínas en los Gránulos del Eosinófilo , Asma/tratamiento farmacológico , Antiinflamatorios/uso terapéutico , Enfermedad Crónica
3.
Int J Mol Sci ; 23(17)2022 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-36077263

RESUMEN

Alpha1-antitrypsin (AAT) is a serine protease inhibitor that is encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD), which is associated with an increased risk of lung and/or liver disease. On the basis of electrophoretic migration, AAT variants are named with capital letters; M (medium) signifies the normal protein. Among pathological variants, the M-like ones represent a heterogeneous group of rare allelic variants that exhibit the same electrophoretic pattern as the M wild-type protein, which makes them difficult to detect with routine methods. In order to avoid their misdiagnosis, the present study defines and validates effective methods for the detection of two pathogenic M-like variants, Mwurzburg and Mwhitstable. Comparison of protein phenotypes using isoelectric focusing of samples that presented the Mwurzburg variant, as revealed by exons 5 sequencing, identified a particular electrophoretic pattern amenable to the Mwurzburg protein. The specific phenotyping pattern was retrospectively validated, thus enabling the detection of 16 patients with Mwurzburg variant among the subjects already tested but not sequenced according to our diagnostic algorithm. The Mwhitstable allele was detected by intron 4 sequencing of SERPINA1 gene. Mwurzburg and Mwhitstable are often misdiagnosed and the introduction of diagnostic improvements can help the clinical management, especially in patients with established lung disease without any other reported risk factors.


Asunto(s)
Deficiencia de alfa 1-Antitripsina , Alelos , Técnicas de Laboratorio Clínico , Genotipo , Humanos , Fenotipo , Estudios Retrospectivos , alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/diagnóstico , Deficiencia de alfa 1-Antitripsina/genética
4.
Int J Mol Sci ; 22(16)2021 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-34445720

RESUMEN

Malignant Pleural Mesothelioma (MPM) is a rare and aggressive neoplasm of the pleural mesothelium, mainly associated with asbestos exposure and still lacking effective therapies. Modern targeted biological strategies that have revolutionized the therapy of other solid tumors have not had success so far in the MPM. Combination immunotherapy might achieve better results over chemotherapy alone, but there is still a need for more effective therapeutic approaches. Based on the peculiar disease features of MPM, several strategies for local therapeutic delivery have been developed over the past years. The common rationale of these approaches is: (i) to reduce the risk of drug inactivation before reaching the target tumor cells; (ii) to increase the concentration of active drugs in the tumor micro-environment and their bioavailability; (iii) to reduce toxic effects on normal, non-transformed cells, because of much lower drug doses than those used for systemic chemotherapy. The complex interactions between drugs and the local immune-inflammatory micro-environment modulate the subsequent clinical response. In this perspective, the main interest is currently addressed to the development of local drug delivery platforms, both cell therapy and engineered nanotools. We here propose a review aimed at deep investigation of the biologic effects of the current local therapies for MPM, including cell therapies, and the mechanisms of interaction with the tumor micro-environment.


Asunto(s)
Mesotelioma Maligno/patología , Mesotelioma Maligno/terapia , Terapia Combinada , Sistemas de Liberación de Medicamentos/métodos , Humanos , Inmunoterapia/métodos , Mesotelioma/patología , Mesotelioma/terapia , Neoplasias Pleurales/patología , Neoplasias Pleurales/terapia , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/terapia , Microambiente Tumoral/efectos de los fármacos , Microambiente Tumoral/fisiología
5.
BMC Cancer ; 21(1): 762, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-34210265

RESUMEN

BACKGROUND: Malignant pleural mesothelioma (MPM) is a rare and aggressive malignancy that most commonly affects the pleural layers. MPM has a strong association with asbestos, mainly caused by exposure to its biopersistent fibers in at least 80% of cases. Individuals with a chronic exposure to asbestos might develop disease with a 20-40-year latency with few or no symptoms. Such has been the case in the Italian regions of Piedmont and Lombardy, where industrial production of materials laden with asbestos, mainly cements, has been responsible for the onset of a large epidemic. Since 2018, a multidisciplinary team at San Matteo hospital in Pavia has been collecting data on over 100 patients with MPM. The main goal of this project is to define and describe an integrated profile for each MPM case at diagnosis by using data mining and partition analysis. METHODS: Here we bring together exhaustive epidemiologic, histologic and radiologic data of 88 MPM patients that came to our observation and draw correlations with predictive and prognostic significance. RESULTS: The median overall survival (OS) was 15.6 months. Most patients presented with pleural effusion, irrespective of disease stage. Quite unexpectedly, no statistically significant association was demonstrated between OS and TNM disease stage at diagnosis. Although average OS is similar in male and female patients, partition analysis of data underlined a significant differential hierarchy of predictor categories based on patient gender. In females with no smoking history, full chemotherapeutic regimens are associated with better outcomes. Moreover, concerning second line treatments, vinorelbine emerged as the most advantageous choice for female patients, whereas in the male subgroup no statistically significant difference resulted between gemcitabine and vinorelbine. CONCLUSION: A multidisciplinary approach to MPM is mandatory to define better therapeutic approaches, personalize the management and improve patient outcomes.


Asunto(s)
Mesotelioma Maligno/epidemiología , Mesotelioma Maligno/terapia , Neoplasias Pleurales/epidemiología , Neoplasias Pleurales/terapia , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Humanos , Masculino , Mesotelioma Maligno/mortalidad , Neoplasias Pleurales/mortalidad , Análisis de Supervivencia
7.
Cancers (Basel) ; 12(8)2020 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-32751137

RESUMEN

Despite the progress during the last decade, patients with advanced gastric and esophageal cancers still have poor prognosis. Finding optimal therapeutic strategies represents an unmet need in this field. Several prognostic and predictive factors have been evaluated and may guide clinicians in choosing a tailored treatment. Data from large studies investigating the role of immunotherapy in gastrointestinal cancers are promising but further investigations are necessary to better select those patients who can mostly benefit from these novel therapies. This review will focus on the treatment of metastatic esophageal and gastric cancer. We will review the standard of care and the role of novel therapies such as immunotherapies and CAR-T. Moreover, we will focus on the analysis of potential predictive biomarkers such as Modify as: Microsatellite Instability (MSI) and PD-L1, which may lead to treatment personalization and improved treatment outcomes. A multidisciplinary point of view is mandatory to generate an integrated approach to properly exploit these novel antiproliferative agents.

8.
Eur J Med Genet ; 59(5): 269-73, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-27058262

RESUMEN

AIM OF THE STUDY: Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. METHODS: We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. RESULTS: A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. CONCLUSION: In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies.


Asunto(s)
Adenomioma/genética , Neoplasias de la Vesícula Biliar/genética , Neoplasias/genética , Síndrome de Turner/genética , Adenomioma/complicaciones , Adenomioma/tratamiento farmacológico , Adenomioma/patología , Adulto , Cromosomas Humanos X/genética , Femenino , Estudios de Seguimiento , Neoplasias de la Vesícula Biliar/complicaciones , Neoplasias de la Vesícula Biliar/tratamiento farmacológico , Neoplasias de la Vesícula Biliar/patología , Predisposición Genética a la Enfermedad , Hormona del Crecimiento/administración & dosificación , Terapia de Reemplazo de Hormonas , Humanos , Cariotipo , Cariotipificación , Persona de Mediana Edad , Neoplasias/complicaciones , Neoplasias/patología , Síndrome de Turner/complicaciones , Síndrome de Turner/tratamiento farmacológico , Síndrome de Turner/patología
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