RESUMEN
El cáncer de mama en hombres es una patología poco frecuente, representa menos del 1 % de todos los cánceres masculinos y casi el 1 % de los cánceres de mama, y es responsable del 0,1 % de las muertes por cáncer en hombres. El tipo más común de cáncer de mama que se observa en los hombres es el carcinoma ductal invasivo, que constituye aproximadamente el 90 % de todos los cánceres de mama masculinos. El presente estudio reporta el caso de un hombre de 97 años al que se le diagnosticó un carcinoma ductal infiltrante invasivo que se trató con opioides en una unidad de cuidados paliativos. En este caso, que es poco frecuente en la literatura médica por el tipo de diagnóstico, sexo y edad del paciente, observamos que el buen uso de los opioides, el trabajo en equipo, el acercamiento con la familia y el seguimiento en el tiempo hace que se tomen mejores decisiones sobre el tratamiento, el bienestar, y que la calidad de vida sea mejor. (AU)
Breast cancer in men is a rare disease; it represents less than 1 % of all male cancers, and almost 1 % of breast cancers, and is responsible for 0.1 % of cancer deaths in men.The most common type of breast cancer seen in men is invasive ductal carcinoma, which accounts for approximately 90 % of all male breast cancers. The present study reports the case of a 97-year-old man who was diagnosed with invasive infiltrating ductal carcinoma, who was treated with opioids in a palliative care unit. In this case, which is rare in the medical literature due to the type of diagnosis, sex, and age of the patient, we observe that proper use of opioids, teamwork, closeness with the family, and follow-up over time result in better decisions about treatment, increased comfort, and improved quality of life. (AU)
Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Neoplasias de la Mama/tratamiento farmacológico , Cuidados Paliativos , El Salvador , Carcinoma Ductal de Mama , Analgésicos Opioides/uso terapéuticoRESUMEN
[This corrects the article DOI: 10.1371/journal.pone.0197254.].
RESUMEN
Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural progenitors and its correlation with the cell cycle has suggested its participation in development. However, ANKK1 functions still need to be identified. Here, we have further characterized the ANKK1 localization in vivo and in vitro, by using immunolabeling, quantitative real-time PCR and Western blot in the myogenic lineage. Histologic investigations in mice and humans revealed that ANKK1 is expressed in precursors of embryonic and adult muscles. In mice embryos, ANKK1 was found in migrating myotubes where it shows a polarized cytoplasmic distribution, while proliferative myoblasts and satellite cells show different isoforms in their nuclei and cytoplasm. In vitro studies of ANKK1 protein isoforms along the myogenic progression showed the decline of nuclear ANKK1-kinase until its total exclusion in myotubes. In adult mice, ANKK1 was expressed exclusively in the Fast-Twitch muscles fibers subtype. The induction of glycolytic metabolism in C2C12 cells with high glucose concentration or treatment with berberine caused a significant increase in the ANKK1 mRNA. Similarly, C2C12 cells under hypoxic conditions caused the increase of nuclear ANKK1. These results altogether show a relationship between ANKK1 gene regulation and the metabolism of muscles during development and in adulthood. Finally, we found ANKK1 expression in regenerative fibers of muscles from dystrophic patients. Future studies in ANKK1 biology and the pathological response of muscles will reveal whether this protein is a novel muscle disease biomarker.
Asunto(s)
Células Musculares/enzimología , Músculo Esquelético/enzimología , Proteínas Serina-Treonina Quinasas/metabolismo , Células Madre/enzimología , Adulto , Animales , Hipoxia de la Célula/fisiología , Línea Celular , Núcleo Celular/enzimología , Proliferación Celular , Niño , Citoplasma/enzimología , Femenino , Humanos , Lactante , Masculino , Ratones Endogámicos BALB C , Ratones Endogámicos C57BL , Persona de Mediana Edad , Células Musculares/citología , Células Musculares/patología , Músculo Esquelético/citología , Músculo Esquelético/crecimiento & desarrollo , Músculo Esquelético/patología , Distrofias Musculares/enzimología , Distrofias Musculares/patología , Células Madre/citología , Células Madre/patologíaRESUMEN
OBJECTIVE: To investigate the effects of an osteopathic manipulative treatment (OMT), which includes a diaphragm intervention compared to the same OMT with a sham diaphragm intervention in chronic nonspecific low back pain (NS-CLBP). DESIGN: Parallel group randomized controlled trial. SETTING: Private and institutional health centers. PARTICIPANTS: Participants (N=66) (18-60y) with a diagnosis of NS-CLBP lasting at least 3 months. INTERVENTIONS: Participants were randomized to receive either an OMT protocol including specific diaphragm techniques (n=33) or the same OMT protocol with a sham diaphragm intervention (n=33), conducted in 5 sessions provided during 4 weeks. MAIN OUTCOME MEASURES: The primary outcomes were pain (evaluated with the Short-Form McGill Pain Questionnaire [SF-MPQ] and the visual analog scale [VAS]) and disability (assessed with the Roland-Morris Questionnaire [RMQ] and the Oswestry Disability Index [ODI]). Secondary outcomes were fear-avoidance beliefs, level of anxiety and depression, and pain catastrophization. All outcome measures were evaluated at baseline, at week 4, and at week 12. RESULTS: A statistically significant reduction was observed in the experimental group compared to the sham group in all variables assessed at week 4 and at week 12 (SF-MPQ [mean difference -6.2; 95% confidence interval, -8.6 to -3.8]; VAS [mean difference -2.7; 95% confidence interval, -3.6 to -1.8]; RMQ [mean difference -3.8; 95% confidence interval, -5.4 to -2.2]; ODI [mean difference -10.6; 95% confidence interval, -14.9 to 6.3]). Moreover, improvements in pain and disability were clinically relevant. CONCLUSIONS: An OMT protocol that includes diaphragm techniques produces significant and clinically relevant improvements in pain and disability in patients with NS-CLBP compared to the same OMT protocol using sham diaphragm techniques.
Asunto(s)
Dolor Crónico/terapia , Dolor de la Región Lumbar/terapia , Osteopatía/métodos , Adolescente , Adulto , Dolor Crónico/fisiopatología , Diafragma/fisiopatología , Evaluación de la Discapacidad , Femenino , Humanos , Dolor de la Región Lumbar/fisiopatología , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Resultado del Tratamiento , Adulto JovenRESUMEN
Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.
Asunto(s)
Reprogramación Celular , Enfermedad de Charcot-Marie-Tooth/patología , Células Madre Pluripotentes Inducidas/citología , Proteínas del Tejido Nervioso/genética , Secuencia de Bases , Diferenciación Celular , Línea Celular , Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/metabolismo , Análisis Mutacional de ADN , Fibroblastos/citología , Fibroblastos/metabolismo , Vectores Genéticos/genética , Vectores Genéticos/metabolismo , Heterocigoto , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Cariotipo , Factor 4 Similar a Kruppel , Masculino , Microscopía Fluorescente , Polimorfismo de Nucleótido Simple , Virus Sendai/genética , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
The Spanish Hematic Derivatives Group, consisting of 26 biobanks, was established in 2011. We describe here the viability results of our publically available standard operating procedure to freeze and thaw peripheral blood mononuclear cells (PBMCs). Our protocol maximizes PBMC viability while avoiding where possible interbiobank and intrabiobank assay variability.
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Bancos de Muestras Biológicas , Separación Celular/métodos , Criopreservación/métodos , Leucocitos Mononucleares/citología , Supervivencia Celular , Congelación , Humanos , EspañaRESUMEN
No disponible
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Humanos , Masculino , Adulto , Linfoma Anaplásico de Células Grandes/diagnóstico , Linfoma Anaplásico de Células Grandes/tratamiento farmacológico , Linfoma no Hodgkin/diagnóstico , Heridas y Lesiones , Técnicas y Procedimientos Diagnósticos , Espectroscopía de Resonancia MagnéticaRESUMEN
Aminobisphosphonates (NBPs) are used widely against excessive bone resorption in osteoporosis and Paget's disease as well as in metastatic bone disease and multiple myeloma. Intravenous NBP administration often causes mild to severe acute-phase responses (APRs) that may require intervention with analgesics and antipyretics and lead to treatment noncompliance and nonadherence. We here undertook a phase IV safety trial in patients with osteoporosis to investigate the APR of otherwise healthy individuals to first-time intravenous treatment with the NBP zoledronate. This study provides unique insight into sterile acute inflammatory responses in vivo, in the absence of confounding factors such as infection or cancer. Our data show that both peripheral γδ T cells and monocytes become rapidly activated after treatment with zoledronate, which ultimately determines the clinical severity of the APR. Our study highlights a key role for IFN-γ in the zoledronate-induced APR and identifies pretreatment levels of monocytes and central/memory Vγ9/Vδ2 T cells as well as their responsiveness to zoledronate in vitro as predictive risk factors for the occurrence of subclinical and clinical symptoms. These findings have diagnostic and prognostic implications for patients with and without malignancy and are relevant for Vγ9/Vδ2 T-cell-based immunotherapy approaches.
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Reacción de Fase Aguda/inmunología , Difosfonatos/uso terapéutico , Imidazoles/uso terapéutico , Monocitos/inmunología , Linfocitos T/inmunología , Administración Intravenosa , Estudios de Cohortes , Citocinas/sangre , Difosfonatos/administración & dosificación , Difosfonatos/farmacología , Citometría de Flujo , Humanos , Imidazoles/administración & dosificación , Imidazoles/farmacología , Activación de Linfocitos , Ácido ZoledrónicoRESUMEN
Fundamento y objetivo: La enfermedad de Erdheim-Chester (EC) es una histiocitosis de células no-Langerhans que cursa con infiltración xantogranulomatosa multiorgánica por histiocitos CD68+/CD1a-. Se recogen las principales características de 12 pacientes diagnosticados de esta rara enfermedad. Pacientes y método: Se revisaron las historias clínicas y los hallazgos anatomopatológicos de 12 casos diagnosticados de enfermedad de EC en 7 hospitales terciarios de la península. Se consideró el diagnóstico de esta enfermedad ante un cuadro clínico compatible e infiltración tisular por histiocitos CD68+/CD1a-. Resultados: Se incluyó en el estudio a 12 pacientes, 7 varones, con una mediana de seguimiento de 36 meses (rango IQ: 20-84). La mediana de edad al inicio clínico de la enfermedad y en el momento del diagnóstico histológico fue de 49 (rango IQ: 28-61) y 56 años (37-62), respectivamente. En 6 casos se realizaron múltiples biopsias para poder llegar al diagnóstico, mientras que en 3 fue la revisión de las mismas piezas anatomopatológicas en un adecuado contexto de sospecha clínica lo que permitió el diagnóstico. Las manifestaciones neurológicas presentaron una asociación estadísticamente significativa con la mortalidad (p<0,05). La característica afectación ósea en forma de osteoesclerosis metadiafisaria de huesos largos se detectó en 9 casos. Conclusiones: La enfermedad de EC presenta una gran heterogeneidad en sus manifestaciones clínicas. Es preciso un alto índice de sospecha y una estrecha colaboración entre clínicos y patólogos para llegar al diagnóstico de esta enfermedad (AU)
Background and objective: Erdheim-Chester disease (EC) is a rare form of non-Langerhans cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC.Patients and methods: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. Results: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. Conclusion: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis (AU)
Asunto(s)
Humanos , Masculino , Femenino , Enfermedad de Erdheim-Chester/epidemiología , Enfermedades Raras/epidemiología , Estudios Retrospectivos , Fibrosis Retroperitoneal/patología , Enfermedades de la Hipófisis/etiología , Osteosclerosis/etiología , Orquitis/etiologíaRESUMEN
BACKGROUND AND OBJECTIVE: Erdheim-Chester disease (EC) is a rare form of non-Langerhans' cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC. PATIENTS AND METHODS: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. RESULTS: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. CONCLUSION: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis.
Asunto(s)
Enfermedad de Erdheim-Chester/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Tardío , Errores Diagnósticos , Enfermedad de Erdheim-Chester/tratamiento farmacológico , Enfermedad de Erdheim-Chester/mortalidad , Femenino , Estudios de Seguimiento , Glucocorticoides/uso terapéutico , Humanos , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana Edad , Pronóstico , Estudios RetrospectivosRESUMEN
No disponible
No disponible
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Humanos , Femenino , Persona de Mediana Edad , Anciano de 80 o más Años , Neumonía Neumocócica/complicaciones , Anemia Hemolítica Autoinmune/etiología , Diagnóstico ClínicoRESUMEN
Malignancies found in children and adults with constitutional trisomy 8 mosaicism (CT8M) could be in part the consequence of dysfunction of trisomic immune cells. An adult patient exhibiting trisomy in the entire natural killer (NK) cell population has made possible the characterization of trisomy 8-positive NK cells. The study showed normal cytotoxic activity but predominance of an immunosenescent phenotype (CD56(dim)CD94/NKG2(bright)) characterized by a weak response to IL-2, increased upregulation of CD95/Fas, and impaired TNF-alpha production. As these defects may contribute to the escape and expansion of neoplastic cells, the authors hypothesize that cancer predisposition in CT8M may be partly a result of altered immunosurveillance.
Asunto(s)
Cromosomas Humanos Par 8/inmunología , Vigilancia Inmunológica , Células Asesinas Naturales/inmunología , Mosaicismo , Neoplasias/inmunología , Trisomía/inmunología , Escape del Tumor , Adulto , Antígenos CD/inmunología , Cromosomas Humanos Par 8/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Vigilancia Inmunológica/genética , Interleucina-2/farmacología , Células Asesinas Naturales/patología , Neoplasias/genética , Trisomía/genética , Escape del Tumor/genética , Regulación hacia Arriba/efectos de los fármacos , Regulación hacia Arriba/inmunologíaAsunto(s)
Trastornos Mieloproliferativos/complicaciones , Vena Porta , Trombosis de la Vena/etiología , Adulto , Angiografía , Anticoagulantes/uso terapéutico , Humanos , Masculino , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/tratamiento farmacológico , Resultado del Tratamiento , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/tratamiento farmacológicoRESUMEN
No disponible
Asunto(s)
Humanos , Trastornos Mieloproliferativos/fisiopatología , Trombosis de la Vena/fisiopatología , Vena Porta/fisiopatologíaAsunto(s)
Hematopoyesis Extramedular , Enfermedades del Mediastino/diagnóstico por imagen , Piruvato Quinasa/deficiencia , Anemia Ferropénica/tratamiento farmacológico , Anemia Ferropénica/etiología , Diagnóstico Diferencial , Femenino , Ácido Fólico/uso terapéutico , Humanos , Hallazgos Incidentales , Hierro/uso terapéutico , Leiomioma/complicaciones , Enfermedades del Mediastino/etiología , Neoplasias del Mediastino/diagnóstico , Metrorragia/etiología , Persona de Mediana Edad , Neoplasias Primarias Múltiples/complicaciones , Radiografía , Neoplasias Uterinas/complicacionesAsunto(s)
Carcinoma de Células Pequeñas/complicaciones , Estreñimiento/etiología , Trastornos de Deglución/etiología , Neoplasias Pulmonares/complicaciones , Proteínas del Tejido Nervioso/inmunología , Síndromes Paraneoplásicos del Sistema Nervioso/complicaciones , Proteínas de Unión al ARN/inmunología , Anciano , Carcinoma de Células Pequeñas/sangre , Carcinoma de Células Pequeñas/inmunología , Estreñimiento/sangre , Trastornos de Deglución/sangre , Proteínas ELAV , Resultado Fatal , Humanos , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/inmunología , Masculino , Persona de Mediana Edad , Proteínas del Tejido Nervioso/sangre , Síndromes Paraneoplásicos del Sistema Nervioso/sangre , Síndromes Paraneoplásicos del Sistema Nervioso/inmunología , Proteínas de Unión al ARN/sangreRESUMEN
Engagement of major histocompatibility complex (MHC) class I molecules on immune cells, where they are usually highly expressed, induces signal transduction events of unclear significance. We show here that antibody-mediated cross-linking of MHC-I molecules on human natural killer (NK) cells inhibits their cytotoxic activity against tumor target cells. Inhibition by anti-MHC class I monoclonal antibody exhibits molecular specificity and is an isotype and Fc-independent process. Physical hindrance of specific molecular recognition, induction of apoptosis, or reciprocal NK cell killing, which could be induced by cross-linking of MHC I molecules, has also been ruled out as putative mechanisms of inhibition. Confocal microscopy analysis revealed that MHC class I molecules on the surface of NK cells colocalize constitutively with GM1, a marker of lipid rafts. Cross-linking of MHC class I resulted in the asymmetric redistribution of GM1-enriched raft domains, which are concentrated to the immunological synapse, and MHC I molecules, which segregate to the opposite pole. Also, the cross-linking of MHC I on NK cells induced intracellular tyrosine phosphorylations. These results suggest that MHC I molecules on NK cells could transmit inhibitory signals upon engagement with putative ligands expressed on the surface of those cells that need to be protected from natural cytotoxicity.