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1.
Arch Orthop Trauma Surg ; 144(6): 2655-2663, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38772929

RESUMEN

BACKGROUND: Reconstructive microsurgery techniques using vascularized bone grafts have revolutionized the treatment of complex cases associated with recalcitrant non-unions or osteomyelitis. The medial femoral corticoperiosteal flap (MFCP flap) has emerged as a valuable option in bone reconstruction. Its clinical applications have been extended over the years considering this flap from non-unions with minimal bone lost, up to large intercalary defects of the upper and lower extremities. This article aims to present the clinical applications and outcomes of the MFCP flap in various reconstructive scenarios. METHODS: Seventy-nine patients with persistent non-union and bone defects of the upper and lower limb were evaluated from June 2008 to October 2020. All of them were reconstructed with a corticoperiosteal flap from the medial femoral condyle in our hospital. Previous procedures, bone gap and type of flap used were recorded. Postoperative functional status was assessed with time of bone healing, complications and clinical final outcome. RESULTS: Radiological evidence of bone union was observed at 4.09 months (range 2-9). Healing rate was 97% with periosteal corticocancellous flaps (PCC flaps) and 93% with corticoperiosteal flaps (CP flaps). Average follow-up was 14.5 months (range 5-28). There were no significant donor site complications. CONCLUSIONS: The MFCP flap offers a versatile and reliable option for bone reconstruction. Its ability to provide vascularized bone tissue with low morbidity enhances the healing process and improves outcomes. The MFCP flap has been increasing its applications and it serves as a valuable option in the treatment of recalcitrant non-unions or bony defects irrespective of site and size up to 5 cm in the upper and lower extremities.


Asunto(s)
Fracturas no Consolidadas , Colgajos Quirúrgicos , Humanos , Adulto , Masculino , Femenino , Persona de Mediana Edad , Colgajos Quirúrgicos/irrigación sanguínea , Fracturas no Consolidadas/cirugía , Periostio/trasplante , Adulto Joven , Anciano , Adolescente , Trasplante Óseo/métodos , Procedimientos de Cirugía Plástica/métodos , Fémur/cirugía , Estudios Retrospectivos , Osteomielitis/cirugía
2.
Heliyon ; 8(9): e10388, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36097475

RESUMEN

Objective: The aim of this paper was to evaluate the intratubular penetration area of a bioceramic sealer, using continuous wave (CW), vertical condensation (VC) with two different types of gutta-percha (conventional (NG) and bioceramic-coated (BG)) and single cone (SC) technique with BG gutta-percha, in different root thirds. Methods: A total of 150 mature single-root human teeth (including incisors, canines and premolars) were prepared and randomly divided into five groups (n = 30). Teeth were filled using a bioceramic sealer (TotalFill BC Sealer HiFlow ®) and two different types of gutta-percha, with CW and VC techniques, the teeth in the control group were filled with SC technique and BG gutta-percha. The teeth were sectioned and evaluated as one-third portions in each case under a confocal laser microscope. The penetration area measurements were carried out with the Autocad ® programme. Data was analyzed using the one-factor ANOVA test (p < 0.05) and Post Hoc Test (p < 0.05). Results: The ANOVA Test showed significant differences in the penetration areas of the five obturation techniques (P < 0.05). The Post Hoc Test exhibited significant differences in multiple comparisons (P < 0.05). There was more dentinal tubule penetration in the coronal third than in the apical third in all techniques. Conclusions: The intratubular penetration of the bioceramic sealer was influenced by the obturation techniques tested, but not by the different gutta-percha tested. There was more penetration of sealer in the warm obturation techniques than the SC, regardless of the type of gutta-percha used.

3.
J Clin Exp Dent ; 14(8): e639-e645, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36046173

RESUMEN

Background: The aim of this paper was to evaluate the intratubular penetration percentage in the perimeter of the canals of the calcium silicate-based sealer HiFlow, using three warm obturation techniques, continuous wave (CW) and vertical condensation (VC) with two different types of gutta-percha (conventional (NG) and bioceramic-coated (BG), GuttaCore (GC) and single cone (SC) with BG in different root thirds. Material and Methods: 180 human teeth with a single root were selected including incisors, canines and premolars were prepared and randomly divided into six groups (n=30). Teeth were filled using a bioceramic sealer TotalFill BC Sealer HiFlow (HiFlow) and two different types of gutta-percha, with CW, VC and GC techniques, the teeth in the control group were filled with SC technique and BG gutta-percha. The teeth were sectioned and evaluated as one-third portions in each case under a confocal laser microscope. The penetration ability in the canal's perimeter was carried out with the Autocad® programme. Data was analyzed using Levene's test (p<0,05), ANOVA test (p<0,05), Welch's comparison test (p<0,05), Games-Howell multiple comparison test (p<0,05), Bonferroni test (p<0,05). Results: The percentages relative to penetration was higher in the warm obturation techniques than the SC in all thirds evaluated. Games-Howell test (p<0,05) showed up significant differences in multiple comparisons. There was greater penetration in the perimeter of the canals in the coronal third than in the apical third in all of the techniques. Conclusions: The warm obturation techniques (CW, VC and GC) generated a greater intratubular penetration percentage in the canal perimeter of the sealer than the single cone in all thirds. Key words:HiFlow, calcium silicate-based sealer, confocal laser microscope, dentinal tubules.

4.
Cerebellum ; 21(2): 208-218, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34109552

RESUMEN

The cerebellar cognitive affective syndrome (CCAS) has been consistently described in patients with acute/subacute cerebellar injuries. However, studies with chronic patients have had controversial findings that have not been explored with new cerebellar-target tests, such as the CCAS scale (CCAS-S). The objective of this research is to prove and contrast the usefulness of the CCAS-S and the Montreal Cognitive Assessment (MoCA) test to evaluate cognitive/affective impairments in patients with chronic acquired cerebellar lesions, and to map the cerebellar areas whose lesions correlated with dysfunctions in these tests. CCAS-S and MoCA were administrated to 22 patients with isolated chronic cerebellar strokes and a matched comparison group. The neural bases underpinning both tests were explored with multivariate lesion-symptom mapping (LSM) methods. MoCA and CCAS-S had an adequate test performance with efficient discrimination between patients and healthy volunteers. However, only impairments determined by the CCAS-S resulted in significant regional localization within the cerebellum. Specifically, patients with chronic cerebellar lesions in right-lateralized posterolateral regions manifested cognitive impairments inherent to CCAS. These findings concurred with the anterior-sensorimotor/posterior-cognitive dichotomy in the human cerebellum and revealed clinically intra- and cross-lobular significant regions (portions of right lobule VI, VII, Crus I-II) for verbal tasks that overlap with the "language" functional boundaries in the cerebellum. Our findings prove the usefulness of MoCA and CCAS-S to reveal cognitive impairments in patients with chronic acquired cerebellar lesions. This study extends the understanding of long-term CCAS and introduces multivariate LSM methods to identify clinically intra- and cross-lobular significant regions underpinning chronic CCAS.


Asunto(s)
Enfermedades Cerebelosas , Trastornos del Conocimiento , Accidente Cerebrovascular , Cerebelo , Cognición , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/patología , Humanos , Imagen por Resonancia Magnética , Accidente Cerebrovascular/complicaciones
5.
Cancer Res ; 80(19): 4244-4257, 2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-32855204

RESUMEN

Many cancers are termed immunoevasive due to expression of immunomodulatory ligands. Programmed death ligand-1 (PD-L1) and cluster of differentiation 80/86 (CD80/86) interact with their receptors, programmed death receptor-1 (PD-1) and cytotoxic T-lymphocyte antigen-4 (CTLA-4), respectively, on tumor-infiltrating leukocytes eliciting immunosuppression. Immunotherapies aimed at blocking these interactions are revolutionizing cancer treatments, albeit in an inadequately described patient subset. To address the issue of patient stratification for immune checkpoint intervention, we quantitatively imaged PD-1/PD-L1 interactions in tumor samples from patients, employing an assay that readily detects these intercellular protein-protein interactions in the less than or equal to 10 nm range. These analyses across multiple patient cohorts demonstrated the intercancer, interpatient, and intratumoral heterogeneity of interacting immune checkpoints. The PD-1/PD-L1 interaction was not correlated with clinical PD-L1 expression scores in malignant melanoma. Crucially, among anti-PD-1-treated patients with metastatic non-small cell lung cancer, those with lower PD-1/PD-L1 interaction had significantly worsened survival. It is surmised that within tumors selecting for an elevated level of PD-1/PD-L1 interaction, there is a greater dependence on this pathway for immune evasion and hence, they exhibit more impressive patient response to intervention. SIGNIFICANCE: Quantitation of immune checkpoint interaction by direct imaging demonstrates that immunotherapy-treated patients with metastatic NSCLC with a low extent of PD-1/PD-L1 interaction show significantly worse outcome.


Asunto(s)
Antígeno B7-H1/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/inmunología , Carcinoma de Células Renales/inmunología , Neoplasias Renales/inmunología , Neoplasias Pulmonares/inmunología , Melanoma/inmunología , Receptor de Muerte Celular Programada 1/metabolismo , Adulto , Anciano , Antígeno B7-H1/antagonistas & inhibidores , Antígeno B7-H1/inmunología , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Células Renales/tratamiento farmacológico , Carcinoma de Células Renales/metabolismo , Carcinoma de Células Renales/patología , Femenino , Transferencia Resonante de Energía de Fluorescencia/métodos , Humanos , Neoplasias Renales/tratamiento farmacológico , Neoplasias Renales/metabolismo , Neoplasias Renales/patología , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/patología , Masculino , Melanoma/tratamiento farmacológico , Melanoma/metabolismo , Melanoma/mortalidad , Persona de Mediana Edad , Terapia Molecular Dirigida , Receptor de Muerte Celular Programada 1/antagonistas & inhibidores , Receptor de Muerte Celular Programada 1/inmunología , Reproducibilidad de los Resultados , Resultado del Tratamiento
6.
Cancers (Basel) ; 12(2)2020 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-32098402

RESUMEN

Prostate cancer (PCa) is the second most common cancer of men and is typically slow-growing and asymptomatic. The use of blood PSA as a screening method has greatly improved PCa diagnosis, but high levels of false positives has raised much interest in alternative biomarkers. We used next-generation sequencing (NGS) to elucidate the urinary transcriptome of whole urine collected from high-stage and low-stage PCa patients as well as from patients with the confounding diagnosis of benign hyperplasia (BPH). We identified and validated five differentially expressed protein-coding genes (FTH1 BRPF1, OSBP, PHC3, and UACA) in an independent validation cohort of small-volume (1 mL) centrifuged urine (n = 94) and non-centrifuged urine (n = 84) by droplet digital (dd)PCR. These biomarkers were able to discriminate between BPH and PCa patients and healthy controls using either centrifuged or non-centrifuged whole urine samples, suggesting that the urinary transcriptome is a valuable source of non-invasive biomarkers for PCa that warrants further investigation.

7.
J Nephrol ; 33(1): 167-176, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31471818

RESUMEN

BACKGROUND: Evidence about the reliability of pre-implantation biopsy is still conflicting, depending on both biopsy type and pathologist's expertise. Aim of the study is to evaluate the agreement of general v specialist pathologists and to compare scores on biopsy and whole organs in a set of discarded kidneys. METHODS: 46 discarded kidneys were identified with their corresponding biopsies. The biopsies were reviewed by three general and two specialist pathologists, blinded to the original report, according to Remuzzi score. The intraclass correlation coefficient (ICC) was calculated for both groups. Discarded kidneys were scored according to Remuzzi score by a single specialist pathologist. Biopsies and organs were compared by Wilcoxon signed rank test. Weighted κ coefficients between biopsy and organ scores were also calculated. RESULTS: Specialist pathologists achieved higher values of ICC, reaching excellent or good agreement in most of the parameters, while general pathologists values were mainly fair or good. On whole organs, scores were consistently lower than biopsies, with a significant difference in most of the parameters. Weighted κ coefficient was slight or fair for most of the parameters. CONCLUSIONS: Our data suggests that the creation of a pool of specialist pathologists would improve organ utilization. Moreover, biopsies are not representative of the whole organ. As the Remuzzi score on biopsy is a major reasons for discard, a quota of transplantable kidneys may be erroneously discarded. Refinement in Remuzzi cut-offs based on expert reporting and recognition of sampling error of biopsies in correlation with clinical outcome data should be undertaken.


Asunto(s)
Biopsia , Selección de Donante , Trasplante de Riñón , Riñón/patología , Patología , Especialización , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados
8.
Radiographics ; 39(6): 1598-1610, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31589570

RESUMEN

Cerebral herniation, defined as a shift of cerebral tissue from its normal location into an adjacent space, is a life-threatening condition that requires prompt diagnosis. The imaging spectrum can range from subtle changes to clear displacement of brain structures. For radiologists, it is fundamental to be familiar with the different imaging findings of the various subtypes of brain herniation. Brain herniation syndromes are commonly classified on the basis of their location as intracranial and extracranial hernias. Intracranial hernias can be further divided into three types: (a) subfalcine hernia; (b) transtentorial hernia, which can be ascending or descending (lateral and central); and (c) tonsillar hernia. Brain herniation may produce brain damage, compress cranial nerves and vessels causing hemorrhage or ischemia, or obstruct the normal circulation of cerebrospinal fluid, producing hydrocephalus. Owing to its location, each type of hernia may be associated with a specific neurologic syndrome. Knowledge of the clinical manifestations ensures a focused imaging analysis. To make an accurate diagnosis, the authors suggest a six-key-point approach: comprehensive analysis of a detailed history of the patient and results of clinical examination, knowledge of anatomic landmarks, direction of mass effect, recognition of displaced structures, presence of indirect radiologic findings, and possible complications. CT and MRI are the imaging modalities of choice used for establishing a correct diagnosis and guiding therapeutic decisions. They also have important prognostic implications. The preferred imaging modality is CT: the acquisition time is shorter and it is less expensive and more widely available. Patients with brain herniation are generally in critical clinical condition. Making a prompt diagnosis is fundamental for the patient's safety.©RSNA, 2019.


Asunto(s)
Encefalopatías/clasificación , Encefalopatías/diagnóstico por imagen , Hernia/clasificación , Hernia/diagnóstico por imagen , Imagen por Resonancia Magnética , Neuroimagen , Tomografía Computarizada por Rayos X , Adulto , Encefalopatías/diagnóstico , Hernia/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Neuroimagen/métodos
9.
Rev Esp Patol ; 52(4): 234-241, 2019.
Artículo en Español | MEDLINE | ID: mdl-31530406

RESUMEN

Tumors display a high, albeit variable, grade of intratumor heterogeneity, both from a clinical and a morphological viewpoint. Furthermore, recent methods of large-scale molecular analysis demonstrate to what extent tumors can also be heterogeneous from a molecular perspective. This is of paramount importance for patients as it has a great impact on the success of so-called precision therapies and explains the reason for a significant number of therapeutic failures in modern oncology. We present an up-to-date review of the latest findings in a group of tumors with a high social impact, commonly seen in the daily routine of the pathology laboratory.


Asunto(s)
Neoplasias/patología , Neoplasias de la Mama/patología , Carcinoma de Células Renales/química , Carcinoma de Células Renales/patología , Células Clonales/química , Células Clonales/patología , Progresión de la Enfermedad , Neoplasias Endometriales/química , Neoplasias Endometriales/patología , Femenino , Humanos , Neoplasias Renales/química , Neoplasias Renales/patología , Melanoma/química , Melanoma/patología , Mutación , Invasividad Neoplásica , Proteínas de Neoplasias/análisis , Neoplasias/química , Neoplasias Primarias Múltiples/patología , Células Madre Neoplásicas/química , Células Madre Neoplásicas/patología , Sarcoma/química , Sarcoma/patología , Análisis de la Célula Individual , Microambiente Tumoral , Neoplasias Uterinas/química , Neoplasias Uterinas/patología
10.
J. Bras. Patol. Med. Lab. (Online) ; 55(1): 118-125, Jan.-Feb. 2019. graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1002360

RESUMEN

ABSTRACT Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm, composed of monotonous spindle cells, intermingled with collagen fibers. Kidney location is sporadic, with few reports in literature. We present two cases of 40- and 48-year-old males, one with incidental detection of a peripheral mass; another with hilar lesion perceived following investigation of hematuria. Both revealed a spindle-cell proliferation, without mitosis and necrosis. Immunohistochemical studies: positivity for CD34, CD99 and B-cell lymphoma 2 (Bcl-2). No sign of disease were evident nine and five months after surgery, respectively. SFT is mostly benign, but can show malignant behavior. Morphologic and immunohistochemical characteristics are essential for diagnosis.


RESUMEN Tumor fibroso solitario (TFS) es una neoplasia mesenquimal infrecuente de células fusiformes monótonas, separadas por bandas de colágeno. Localización renal es poco habitual, con escasos casos descriptos. Reportamos dos casos de pacientes masculinos, de 40 e 48 anos, el uno con detección incidental de masaperiférica; el otro con lesión hiliar descubierta en la investigación de hematuria. Los dos revelaronproliferación fusocelular sin necrosis ni mitosis. Inmunohistoquímica: positividad para CD34, CD99 y linfoma de células B2 (Bcl-2). No hay evidencia de recidiva a los nueve y cinco meses de la cirugía, respectivamente. TFS es, por lo general, benigno, pero puede revelar comportamiento agresivo. Características morfológicas y inmunohistoquímicas son esencialespara el diagnóstico.


RESUMO Tumor fibroso solitário (TFS) é uma neoplasia mesenquimatosa rara composta por células fusiformes monótonas, intercaladas por fibras de colágeno. Localização renal é incomum, com escassos casos descritos. Relatamos dois casos do gênero masculino, com 40 e 48 anos, um com detecção incidental de massa periférica; outro com lesão hilar descoberta na sequência de investigação por hematúria. Ambos revelaram proliferação fusocelular sem mitoses nem necrose. Imuno-histoquímica: positividade para CD34, CD99 e linfoma de células B2 (Bcl-2). Não há evidência de recidiva nove e cinco meses após cirurgia, respetivamente. TFS é maioritariamente benigno, mas pode revelar comportamento agressivo. Características morfológicas e imuno-histoquímicas são essenciais para o diagnóstico.

12.
Virchows Arch ; 473(6): 725-738, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30232607

RESUMEN

The spectrum of the renal oncocytic tumors has been expanded in recent years to include several novel and emerging entities. We describe a cohort of novel, hitherto unrecognized and morphologically distinct high-grade oncocytic tumors (HOT), currently diagnosed as "unclassified" in the WHO classification. We identified 14 HOT by searching multiple institutional archives. Morphologic, immunohistochemical (IHC), molecular genetic, and molecular karyotyping studies were performed to investigate these tumors. The patients included 3 men and 11 women, with age range from 25 to 73 years (median 50, mean 49 years). Tumor size ranged from 1.5 to 7.0 cm in the greatest dimension (median 3, mean 3.4 cm). The tumors were all pT1 stage. Microscopically, they showed nested to solid growth, and focal tubulocystic architecture. The neoplastic cells were uniform with voluminous oncocytic cytoplasm. Prominent intracytoplasmic vacuoles were frequently seen, but no irregular (raisinoid) nuclei or perinuclear halos were present. All tumors demonstrated prominent nucleoli (WHO/ISUP grade 3 equivalent). Nine of 14 cases were positive for CD117 and cytokeratin (CK) 7 was either negative or only focally positive in of 6/14 cases. All tumors were positive for AE1-AE3, CK18, PAX 8, antimitochondrial antigen, and SDHB. Cathepsin K was positive in 13/14 cases and CD10 was positive in 12/13 cases. All cases were negative for TFE3, HMB45, Melan-A. No TFEB and TFE3 genes rearrangement was found in analyzable cases. By array CGH, complete chromosomal losses or gains were not found in any of the cases, and 3/9 cases showed absence of any abnormalities. Chromosomal losses were detected on chromosome 19 (4/9), 3 with losses of the short arm (p) and 1 with losses of both arms (p and q). Loss of chromosome 1 was found in 3/9 cases; gain of 5q was found in 1/9 cases. On molecular karyotyping, 3/3 evaluated cases showed loss of heterozygosity (LOH) on 16p11.2-11.1 and 2/3 cases showed LOH at 7q31.31. Copy number (CN) losses were found at 7q11.21 (3/3), Xp11.21 (3/3), Xp11.22-11.21 (3/3), and Xq24-25 (2/3). CN gains were found at 13q34 (2/3). Ten patients with available follow up information were alive and without disease progression, after a mean follow-up of 28 months (1 to 112 months). HOT is a tumor with unique morphology and its IHC profile appears mostly consistent. HOT should be considered as an emerging renal entity because it does not meet the diagnostic criteria for other recognized eosinophilic renal tumors, such as oncocytoma, chromophobe renal cell carcinoma (RCC), TFE3 and TFEB RCC, SDH-deficient RCC, and eosinophilic solid and cystic RCC.


Asunto(s)
Adenoma Oxifílico/genética , Adenoma Oxifílico/patología , Neoplasias Renales/genética , Neoplasias Renales/patología , Adulto , Anciano , Biomarcadores de Tumor/genética , Aberraciones Cromosómicas , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Técnicas de Diagnóstico Molecular
13.
F1000Res ; 5: 607, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27158455

RESUMEN

A multifocal biphasic squamoid alveolar renal cell carcinoma in a 68-year-old man is reported. Four different peripheral tumor nodules were identified on gross examination. A fifth central tumor corresponded to a conventional clear cell renal cell carcinoma. Biphasic squamoid alveolar renal cell carcinoma is a rare tumor that has been very recently characterized as a distinct histotype within the spectrum of papillary renal cell carcinoma. Immunostaining with cyclin D1 seems to be specific of this tumor subtype. This is the first reported case with multifocal presentation.

14.
Breast Cancer Res Treat ; 156(1): 195-201, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26951504

RESUMEN

Molecular evidence has linked the pathophysiology of lymphangioleiomyomatosis (LAM) to that of metastatic breast cancer. Following on this observation, we assessed the association between LAM and subsequent breast cancer. An epidemiological study was carried out using three LAM country cohorts, from Japan, Spain, and the United Kingdom. The number of incident breast cancer cases observed in these cohorts was compared with the number expected on the basis of the country-specific incidence rates for the period 2000-2014. Immunohistochemical studies and exome sequence analysis were performed in two and one tumors, respectively. All cohorts revealed breast cancer standardized incidence ratios (SIRs) ≥ 2.25. The combined analysis of all cases or restricted to pre-menopausal age groups revealed significantly higher incidence of breast cancer: SIR = 2.81, 95 % confidence interval (CI) = 1.32-5.57, P = 0.009; and SIR = 4.88, 95 % CI = 2.29-9.99, P = 0.0007, respectively. Immunohistochemical analyses showed positivity for known markers of lung metastatic potential. This study suggests the existence of increased breast cancer risk among LAM patients. Prospective studies may be warranted to corroborate this result, which may be particularly relevant for pre-menopausal women with LAM.


Asunto(s)
Neoplasias de la Mama/epidemiología , Linfangioleiomiomatosis/complicaciones , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Femenino , Humanos , Incidencia , Japón/epidemiología , Linfangioleiomiomatosis/genética , Linfangioleiomiomatosis/metabolismo , Metástasis de la Neoplasia , Análisis de Secuencia de ADN , España/epidemiología , Reino Unido/epidemiología
15.
PLoS One ; 10(7): e0132546, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26167915

RESUMEN

Lymphangioleiomyomatosis (LAM) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either the tuberous sclerosis complex 1 or 2 (TSC1 or TSC2) genes. While allosteric inhibition of the mechanistic target of rapamycin (mTOR) has shown substantial clinical benefit, complementary therapies are required to improve response and/or to treat specific patients. However, there is a lack of LAM biomarkers that could potentially be used to monitor the disease and to develop other targeted therapies. We hypothesized that the mediators of cancer metastasis to lung, particularly in breast cancer, also play a relevant role in LAM. Analyses across independent breast cancer datasets revealed associations between low TSC1/2 expression, altered mTOR complex 1 (mTORC1) pathway signaling, and metastasis to lung. Subsequently, immunohistochemical analyses of 23 LAM lesions revealed positivity in all cases for the lung metastasis mediators fascin 1 (FSCN1) and inhibitor of DNA binding 1 (ID1). Moreover, assessment of breast cancer stem or luminal progenitor cell biomarkers showed positivity in most LAM tissue for the aldehyde dehydrogenase 1 (ALDH1), integrin-ß3 (ITGB3/CD61), and/or the sex-determining region Y-box 9 (SOX9) proteins. The immunohistochemical analyses also provided evidence of heterogeneity between and within LAM cases. The analysis of Tsc2-deficient cells revealed relative over-expression of FSCN1 and ID1; however, Tsc2-deficient cells did not show higher sensitivity to ID1-based cancer inhibitors. Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM.


Asunto(s)
Biomarcadores de Tumor/sangre , Neoplasias de la Mama/sangre , Neoplasias Pulmonares/sangre , Linfangioleiomiomatosis/sangre , Células Madre Neoplásicas/patología , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Perfilación de la Expresión Génica , Humanos , Neoplasias Pulmonares/secundario , Linfangioleiomiomatosis/patología , Metástasis de la Neoplasia , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis Tuberosa , Proteínas Supresoras de Tumor/genética
16.
Rev Neurol ; 50(10): 616-22, 2010 May 16.
Artículo en Español | MEDLINE | ID: mdl-20473838

RESUMEN

INTRODUCTION: The surgical treatment of refractory epilepsy represents a large step forward in the quality of life and survival of many patients, particularly for those whose pathology is located in the temporal lobe. AIM: To concentrate the basic histological aspects of an extremely varied, although generally little known, genuinely neural pathology into one single review work. DEVELOPMENT: The causes of refractory epilepsy with a genuinely neurohistological foundation can be either malformative or neoplastic. The former include cortical dysplasias and hippocampal sclerosis, while the latter involve the so-called glioneuronal tumours (dysembryoplastic neuroepithelial tumour, ganglioglioma) and some glial cell-related tumours. CONCLUSIONS: There is a group of disorders that are intrinsic to cerebral development and primary brain tumours which are closely related to epilepsy. Surgery applied to these processes cures epilepsy in a high percentage of cases that are resistant to pharmacological treatment.


Asunto(s)
Epilepsia/patología , Epilepsia/cirugía , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/cirugía , Epilepsia/etiología , Ganglioglioma/complicaciones , Ganglioglioma/patología , Ganglioglioma/cirugía , Humanos , Tumores Neuroectodérmicos Primitivos/complicaciones , Tumores Neuroectodérmicos Primitivos/patología , Tumores Neuroectodérmicos Primitivos/cirugía , Calidad de Vida , Lóbulo Temporal/patología , Lóbulo Temporal/cirugía , Teratoma/complicaciones , Teratoma/patología , Teratoma/cirugía , Resultado del Tratamiento
17.
Urol Int ; 84(3): 292-300, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20389158

RESUMEN

OBJECTIVE: To characterize a large series of renal cell carcinomas (RCCs) in young patients and to compare the data obtained to previously published data. PATIENTS AND METHODS: A total of 130 RCCs diagnosed in patients <40 years of age were collected from 9 different hospitals in Spain. Cases were re-evaluated following the diagnostic criteria of the 2004 WHO classification of renal tumors. RESULTS: Histologically, tumors were classified as clear cell (50.7%), papillary (8.5%), chromophobe (14.6%), unclassified (16.9%) and clear cell papillary (9.3%) RCCs. Organ-confined disease (OCD) was detected in 83.6% of the cases. Tumor size and Fuhrman's grade were statistically correlated (Spearman's rho = 0.391). CD10 (p = 0.000), CK7 (p = 0.000), CD15 (p = 0.016), CD117 (p = 0.000), 34betaE12 cytokeratin (p = 0.034) and e-cadherin (p = 0.000) immunostaining significantly differentiated the five histological categories. CONCLUSIONS: OCD was more common in young RCC patients. The clear cell phenotype accounted for only 50% of RCCs in this age group, with an increasing number of chromophobe and unclassified RCCs. Clear cell RCCs with a papillary growth pattern accounted for a significant proportion of the cases.


Asunto(s)
Carcinoma de Células Renales/patología , Neoplasias Renales/patología , Adolescente , Adulto , Femenino , Humanos , Inmunohistoquímica , Masculino , Estudios Retrospectivos , Adulto Joven
18.
CES med ; 23(1): 77-83, ene.-jun. 2009. ilus
Artículo en Español | LILACS | ID: lil-565202

RESUMEN

Los teratomas cervicales son tumoraciones infrecuentes y su ubicación a este nivel solo se presenta en el 6 % de todos los tumores de este tipo. Su pronóstico depende del tamaño, localización, tasa de crecimiento, compromiso en la vía aérea, y el manejo adecuado de la lesión. En la literatura se encuentran pocos reportes de casos, dado que dicha enfermedad es poco común. En la Fundación Valle del Lili, en el año anterior, se recibieron varios recién nacidos con masas en el cuello de los cuales dos correspondieron a teratomas congénitos. En el presente reporte se describen dos recién nacidos con grandes masas en cuello, sin diagnóstico prenatal, una de ellas con compromiso hasta región del lóbulo temporal, y en ambos casos con marcado compromiso de la vía aérea y lesiones de rápido crecimiento. El manejo inicial fue la resección quirúrgica con participación del grupo interdisciplinario de la Unidad de Neonatología. El estudio anatomopatológico reportó un teratoma benigno en el primer caso y en el segundo un teratoma inmaduro. Se resalta el manejo interdisciplinario y se incluyen los estudios de imágenes, resultados histopatológicos y se realiza revisión amplia de la literatura existente.


Cervical teratomas are rare tumors in newborns, usually represent close 6% of all of them. Pronostic depend of extension, localization of the mass, optim treatment, rate of growth and level of airway compromise. There are few reports of cases because of low frecuency of presentation. Last year in the Valle del Lili Foundation we admited some newborns with cervical tumors, two of them with congenital teratomas. We present two neonates patients with giant neck masses present at birth, without prenatal diagnosis, one with compromise until temporal lobe and both with severe airway compromise. Initial management was surgical excision with pediatric surgeon, neurosurgeon and interdisciplinary group of specialists of the neonatal intensive care unit. Histopathology study of the lesion reported benign teratoma in the first case and immature teratoma in the second one. We recognize interdisciplinary management and included imagenology histopathology studies and literature review is done.


Asunto(s)
Humanos , Recién Nacido , Teratoma/diagnóstico , Teratoma/patología , Teratoma/terapia , Diagnóstico
20.
Rev. méd. hered ; 18(3): 155-160, jul.-sept. 2007. ilus
Artículo en Español | LILACS, LIPECS | ID: lil-479968

RESUMEN

Mujer de 29 años que desarrolló insidiosamente ascitis y dolor abdominal. El estudio del líquido ascítico reveló su aspecto lechoso y de trasudado. El estudio tomográfico mostró un conglomerado ganglionar retroperitoneal. El CA 125 fue más de cien veces el límite superior normal. El estudio reveló que se trataba de un linfoma no Hodgkin intestinal difuso de células grandes, estirpe linfoide B.


Asunto(s)
Humanos , Adulto , Femenino , Ascitis Quilosa , Linfoma de Células B , Linfoma no Hodgkin
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