[Natural history of mucopolysaccharidosis type III in a series of Colombian patients]. / Historia natural de la mucopolisacaridosis III en una serie de pacientes colombianos.

INTRODUCTION: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Diagnosis is based on clinical features, with neurodevelopmental and neuropsychiatric alterations taking precedence, including over phenotype alterations. The disease is confirmed by biochemical analysis to identify the type of glycosaminoglycans present, enzyme assay and molecular genetic studies. CASE REPORTS: A clinical description was performed for eight patients diagnosed with MPS III in Colombia. Their initial symptoms were related to developmental delay and behavioural disorders presenting between 3 and 8 years of age, associated in all cases with coarse facial features, thick eyebrows, hepatomegaly and progressive hearing loss. One of the patients presented cardiac anomalies; two presented focal epilepsy; and one presented optic atrophy. They all presented neuroimaging alterations, with evidence of parenchymal volume loss, corpus callosum atrophy and cortical thinning; the diagnosis was performed by biochemical glycosaminoglycan chromatography studies, and all patients have a confirmatory genetic study. CONCLUSIONS: MPS III is a challenge for diagnosis, particularly in its early stages and in patients in which the course of the disease is attenuated. This is due to its variable course, non-specific early neuropsychiatric symptoms, and the absence of obvious somatic features compared to other types of MPS. After a definitive diagnosis has been made, interdisciplinary care must be provided for the patient and their family, and support given for the treatment of physical symptoms, ensuring the best possible care and quality of life for the patient and their family, as the condition is neurodegenerative.

TITLE: Historia natural de la mucopolisacaridosis III en una serie de pacientes colombianos.Introducción. La mucopolisacaridosis de tipo III (MPS III), o síndrome de Sanfilippo, es un trastorno de almacenamiento lisosómico con características neurodegenerativas progresivas, predominante del sistema nervioso central. Su diagnóstico se basa en el cuadro clínico, y priman alteraciones en el neurodesarrollo y neuropsiquiátricas, incluso antes de la presencia de alteraciones fenotípicas. El análisis bioquímico para identificar el tipo de glucosaminoglucanos presente, la determinación enzimática y el estudio de genética molecular confirman la enfermedad. Casos clínicos. Se realiza la descripción clínica de ocho pacientes con diagnóstico de MPS III en Colombia, con síntomas iniciales en relación con retraso del desarrollo y trastornos comportamentales evidenciados entre los 3 y 8 años, asociado a facies toscas, cejas pobladas, hepatomegalia y pérdida auditiva progresiva en todos los casos. Uno de los pacientes presentó anomalías cardíacas; dos de ellos, epilepsia focal; y en uno se evidenció atrofia óptica. Todos presentaron alteraciones en las neuroimágenes con evidencia de pérdida del volumen parenquimatoso, atrofia del cuerpo calloso y adelgazamiento cortical; el diagnostico se realizó a través de estudios bioquímicos de cromatografía de glucosaminoglucanos y todos cuentan con un estudio genético confirmatorio. Conclusiones. La MPS III es un desafío diagnóstico, particularmente en pacientes con un curso atenuado de la enfermedad, debido al curso variable, síntomas neuropsiquiátricos tempranos inespecíficos y falta de características somáticas evidentes en comparación con otros tipos de MPS. Cuando se tiene el diagnóstico definitivo, es fundamental brindar atención interdisciplinaria para el paciente y la familia, y apoyar el tratamiento de los síntomas físicos, garantizando ofrecer el mejor cuidado posible y la mejor calidad de vida para el paciente y su familia, al tratarse de una condición neurodegenerativa.

Historia natural de la mucopolisacaridosis III en una serie de pacientes colombianos / Natural history of mucopolysaccharidosis type III in a series of Colombian patients

Introducción: La mucopolisacaridosis de tipo III (MPS III), o síndrome de Sanfilippo, es un trastorno de almacenamiento lisosómico con características neurodegenerativas progresivas, predominante del sistema nervioso central. Su diagnóstico se basa en el cuadro clínico, y priman alteraciones en el neurodesarrollo y neuropsiquiátricas, incluso antes de la presencia de alteraciones fenotípicas. El análisis bioquímico para identificar el tipo de glucosaminoglucanos presente, la determinación enzimática y el estudio de genética molecular confirman la enfermedad. Casos clínicos: Se realiza la descripción clínica de ocho pacientes con diagnóstico de MPS III en Colombia, con síntomas iniciales en relación con retraso del desarrollo y trastornos comportamentales evidenciados entre los 3 y 8 años, asociado a facies toscas, cejas pobladas, hepatomegalia y pérdida auditiva progresiva en todos los casos. Uno de los pacientes presentó anomalías cardíacas; dos de ellos, epilepsia focal; y en uno se evidenció atrofia óptica. Todos presentaron alteraciones en las neuroimágenes con evidencia de pérdida del volumen parenquimatoso, atrofia del cuerpo calloso y adelgazamiento cortical; el diagnostico se realizó a través de estudios bioquímicos de cromatografía de glucosaminoglucanos y todos cuentan con un estudio genético confirmatorio. Conclusiones: La MPS III es un desafío diagnóstico, particularmente en pacientes con un curso atenuado de la enfermedad, debido al curso variable, síntomas neuropsiquiátricos tempranos inespecíficos y falta de características somáticas evidentes en comparación con otros tipos de MPS. Cuando se tiene el diagnóstico definitivo, es fundamental brindar atención interdisciplinaria para el paciente y la familia, y apoyar el tratamiento de los síntomas físicos, garantizando ofrecer el mejor cuidado posible y la mejor calidad de vida para el paciente y su familia, al tratarse de una condición neurodegenerativa.(AU)

Introduction: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Diagnosis is based on clinical features, with neurodevelopmental and neuropsychiatric alterations taking precedence, including over phenotype alterations. The disease is confirmed by biochemical analysis to identify the type of glycosaminoglycans present, enzyme assay and molecular genetic studies. Case reports: A clinical description was performed for eight patients diagnosed with MPS III in Colombia. Their initial symptoms were related to developmental delay and behavioural disorders presenting between 3 and 8 years of age, associated in all cases with coarse facial features, thick eyebrows, hepatomegaly and progressive hearing loss. One of the patients presented cardiac anomalies; two presented focal epilepsy; and one presented optic atrophy. They all presented neuroimaging alterations, with evidence of parenchymal volume loss, corpus callosum atrophy and cortical thinning; the diagnosis was performed by biochemical glycosaminoglycan chromatography studies, and all patients have a confirmatory genetic study. Conclusions: MPS III is a challenge for diagnosis, particularly in its early stages and in patients in which the course of the disease is attenuated. This is due to its variable course, non-specific early neuropsychiatric symptoms, and the absence of obvious somatic features compared to other types of MPS. After a definitive diagnosis has been made, interdisciplinary care must be provided for the patient and their family, and support given for the treatment of physical symptoms, ensuring the best possible care and quality of life for the patient and their family, as the condition is neurodegenerative.(AU)

A comparison of the efficacy of trastuzumab deruxtecan in advanced HER2-positive breast cancer: active brain metastasis versus progressive extracranial disease alone.

BACKGROUND: Trastuzumab deruxtecan (T-DXd) has demonstrated efficacy in patients with brain metastasis (BM), a group historically with poor outcomes. The prevalence of BMs in patients commencing T-DXd is currently unknown. No direct comparisons have been made of the activity of T-DXd in patients with active BM versus those with extracranial progression alone. This real-world study explored the prevalence of BMs in patients commencing T-DXd, the efficacy of T-DXd in active BM versus extracranial progression alone and the safety of T-DXd. PATIENTS AND METHODS: Patients with human epidermal growth factor receptor 2-positive advanced breast cancer treated with T-DXd between June 2021 and February 2023 at our specialist cancer hospital were identified and notes reviewed. Clinicopathological information, prior treatment, the presence or absence of central nervous system (CNS) disease, outcomes and treatment-emergent adverse events (TEAEs) were recorded. RESULTS: Twenty-nine female patients, with a median age of 52 years (interquartile range 44-62 years), were identified; the prevalence of BM was 41%. Median number of lines of prior therapy was 2 (range 2-6). At a median follow-up of 13.8 months, median progression-free survival (PFS) for the overall population was 13.9 months [95% confidence interval (CI) 12.4 months-not estimable (NE)], 16.1 months (95% CI 15.1 months-NE) for active BMs and 12.4 months (95% CI 8.3 months-NE) for progressive extracranial disease alone. The 12-month overall survival (OS) rate was 74% (95% CI 59% to 95%) in the overall population, and 83% (95% CI 58% to 100%) and 66% (95% CI 45% to 96%) for active BMs and extracranial disease only, respectively. Most common TEAEs were fatigue, alopecia, and constipation. In nine patients (31%, including two deaths), pneumonitis occurred. CONCLUSION: In this real-world population, we demonstrate T-DXd to be effective in patients with active BMs and those with progressive extracranial disease alone. PFS and OS were numerically longer in those with active BMs. These data demonstrate that patients with active BM treated with T-DXd have at least comparable outcomes to those with extracranial disease alone. The high rate of pneumonitis warrants further consideration.

Caso incomum de infarto agudo do miocárdio: embolia distal por grande aneurisma de tronco de coronária esquerda / Unusual case of acute myocardial infarction: distal embolism due to large aneurysm of the left main coronary artery

INTRODUÇÃO: Os aneurismas de artéria coronária (AAC) são definidos por uma dilatação focal de mais de uma vez e meia o segmento normal da artéria. São raros, sendo o aneurisma de tronco de coronária esquerda (TCE), ainda mais raro com incidência estimada em 0,1% dentre os pacientes submetidos a angiografia coronariana. Os aneurismas podem apresentar-se apenas como achado de exame em pacientes assintomáticos em sua maioria, porém podem também evoluir com trombose local, compressão extrínseca ou ruptura aneurismática. RELATO DE CASO: Homem de 42 anos, sem comorbidades, foi atendido no pronto socorro com dor torácica típica, sendo diagnosticado com infarto agudo de miocardio (IAM) anterior extenso e submetido a trombólise com critérios reperfusão. No ecocardiograma transtorácico apresentava acinesia do segmento médio e apical da parede anterior e anterolateral com fração de ejeção 45%. Realizada cineangiocoronariografia (CATE) que não evidenciou lesões obstrutivas significativas, porém identificou a presença de um aneurisma de 9 mm no TCE com imagem negativa sugestiva de alta carga trombótica. (Figura 1). Após uma semana de anticoagulação plena o CATE foi repetido e já não se observavam mais os trombos no TCE. (Figura 2) Realizada triagem para trombofilias, doenças do tecido conjuntivo e infecciosas sendo todas negativas. Paciente é mantido em tripla terapia por um ano. Atualmente estável sem novos eventos trombóticos. DISCUSSÃO: Apresentamos um caso raro de aneurisma de TCE com trombos no seu interior cuja manifestação inicial foi um IAM. O aneurisma de TCE, embora muito raro, pode ser causa de IAM. O AAC, na maioria das vezes, possui etiologia aterosclerótica, seguido por doença de Kawasaki, do tecido conjuntivo, autoimune, infecciosa e idiopática. A maioria dos AAC são assintomáticos, outros apresentam uma clínica variável. O baixo fluxo no segmento aneurismático pode levar a formação de trombo com consequente embolização distal podendo ocasionar um IAM. O CATE continua sendo o padrão ouro para o diagnóstico. O tratamento inclui a ligação cirúrgica, angioplastia com stent recoberto ou tratamento clínico mediante anticoagulação associada ou não a antiagregação plaquetária. A cirurgia é o tratamento de eleição em casos de doença aterosclerótica obstrutiva grave associada ou aneurismas gigantes com risco de ruptura. Os pacientes necessitam de acompanhamento clínico e de imagem periodicamente. Aneurismas pequenos tem um prognóstico favorável com baixo risco de eventos isquêmicos diferentemente dos aneurismas gigantes.

Artéria circunflexa com origem anômala em seio de valsalva direito em paciente idoso: relato de caso / Circumflex artery with anomalous origin in the right sinus of valsalva in an elderly patient: case report

INTRODUÇÃO: As anomalias coronárias congênitas são raras na população geral, com uma prevalência de 0,2 a 2,3%. Nos pacientes adultos a variante anatômica mais frequente é a artéria circunflexa (CX) anômala, tendo como possíveis origens o óstio separado dentro do seio coronário direito ou ramo proximal da arteria coronária direita (CD), sendo este último bastante incomum. O diagnóstico na maioria dos casos é realizado como um achado incidental durante uma cinecoronariografia. RELATO DE CASO: Paciente masculino, 71 anos, portador de hipertensão arterial sistêmica, diabetes mellitus, dislipidemia, hipotireoidismo, doença pulmonar obstrutiva crónica e ex-tabagista, com história de Doença Arterial Coronária Crónica (DAC) com revascularização miocárdica cirúrgica há sete anos, encaminhado ao nosso serviço por queixa de dispneia classe funcional NYHA II. Negava angina. Eletrocardiograma apresentava alteração inespecífica da repolarização ventricular e o ecocardiograma transtorácico revelou função ventricular preservada. Realizou prova funcional com evidência de isquemia em parede inferior e inferolateral (carga isquêmica 10-14%). Desta forma, foi submetido a cateterismo cardíaco que evidenciou Artéria Coronária Direita ocluída em terço proximal, descendente anterior (DA) com lesão de 95% no terço proximal enchendo retrogradamente por ponte de artéria mamaria interna esquerda pérvia, ponte safena para primeiro ramo diagonal ocluída e pontes safena para descendente posterior e primeiro ramo marginal pérvios. Evidenciada CX originando-se do seio coronário direito, achado não relatado previamente a despeito dos antecedentes do paciente. O caso foi discutido em HEART TEAM e optado por manutenção de tratamento clínico otimizado. DISCUSSÃO: A investigaçãoda doença aterosclerótica coronaria leva, por vezes, à necessidade de cinecoronarografia, o que pode levar ao diagnóstico de anomalias congênitas, sendo a origem de CX a partir do seio de valsalva direito um achado raro. Nos pacientes adultos que apresentam essas variantes anatómicas, a isquemia miocárdica pode ocorrer devido à aterosclerose precoce e mais agressiva quando comparada a uma artéria coronária normal, sendo descrito na literatura uma maior incidencia de estenoses em artérias com origem anômala do seio coronario direito. CONCLUSÃO: Trata-se de caso pouco frequente de um paciente com DAC e origem anômalada CX. Na literatura varios autores já sugerem esta associação, porém o prognóstico desses pacientes ainda é incerto e tratamento permanece um Figura 1. A - ECG com critérios clássico para HVE e alterações da repolarização ventricular, RNM de coração desafio.

Morte súbita abortada secundária à trombose coronariana em paciente jovem: relato de caso / Aborted sudden death secondary to coronary thrombosis in a young patient: case report

INTRODUÇÃO: A trombose coronaria (TC) é definida como a presença de um trombo no interior de uma artéria epicárdica podendo causar infarto agudo do miocardio (IAM) e até morte súbita. A TC sem aterosclerose é rara e pode ser uma complicação das trombofilias e distúrbios mieloproliferativos como Policitemia Vera (PV), entidade também rara com incidência de 2,8%. Os critérios diagnósticos são: Critérios Maiores: 1) hemoglobina≥16,5mg/dl e hematócrito≥49% no sexo masculino, 2) biopsia medular com hipercelularidade, 3) mutação JAK2. Critério Menor: eritropoietina baixa. O diagnóstico e feito com os três critérios maiores ou dois maiores e um menor. RELATO DE CASO: G.M masculino, 27 anos, sem comorbidades. Deu entrada no pronto socorro devido a dor torácica intensa, evoluindo subitamente com parada cardiorrespiratória em fibrilação ventricular, foi reanimado conforme ACLS retornando a circulação espontânea após dois minutos. O eletrocardiograma mostrou uma elevação do segmento ST em parede anterior extensa, sendo submetido a cinecoronariografia que evidenciou imagem de trombo no terço proximal e médio da artéria descendente anterior, fluxo TIMI 1, foi realizada tromboaspiração, sem melhora do fluxo. Optou­se por implante de stent farmacológico com resultado final fluxo TIMI 3. Ao ecocardiograma apresentou fração de ejeção de 25% com hipocinesia anterior e apical. Na investigação foi evidenciada hemoglobina de 21mg/dl com hematócrito de 59% associado a eritropoietina baixa, a mutação para JAK2 foi negativa e até o momento aguardamos o resultado da biópsia medular. Demais pesquisas foram negativas para deficiência de proteína C e S, Anti-Cardiolipina IgG e IgM, Beta 2 Microglobulina, FAN, Anti-Trombina III, Fator V de Leiden, Fator VIII. Após cinco dias o paciente foi submetido a um segundo cateterismo, evidenciando novo trombo intra-stent porém sem repercussão hemodinâmica. Iniciou-se triple terapia com o paciente assintomático. DISCUSSÃO: Relatamos aqui um caso de um paciente jovem com morte súbita abortada secundária a IAM por trombose coronária. A TC quando não associada a ruptura de placa, pode ser secundária a doenças mieloproliferativas como PV ou trombofilias sendo o diagnóstico diferencial um verdadeiro desafio para o clínico em pacientes sem fatores de risco clássicos e não usuários de drogas. CONCLUSÃO: A estratégia terapêutica nesses pacientes com obstrução sustentada ainda é controversa uma vez que o implante de stent pode significar um risco maior de oclusão, novos estudos são fundamentais para um manejo adequado e oportuno para este grupo de doenças.

Indicadores de calidad en patología pleural: consentimiento informado / Quality indicators in pleural pathology: informed consent

Objetivo. Medir el grado de cumplimiento de dos indicadores de calidad en patología pleural: consentimiento informado en toracocentesis (CIT) y consentimiento informado en biopsia pleural cerrada (CIBPC). Material y métodos. Estudio retrospectivo realizado en 6 hospitales de la Comunidad de Madrid. Se seleccionaron todas las toracocentesis y biopsias pleurales cerradas realizadas por un neumólogo desde el 01/12/2016 al 28/02/2017, en pacientes >16 años con derrame pleural. Variables a estudio: edad, sexo, modelo de consentimiento informado, presencia del CIT y CIBPC en la historia clínica o en archivos parciales e informatización del hospital. Se consideró buen cumplimiento cuando el consentimiento informado estaba presente y correctamente cumplimentado en > 90% de las historias clínicas. Las variables se recogieron en una tabla Excel. Análisis mediante Stata v.12. Resultados. Se realizaron 146 toracocentesis (63 mujeres/83 varones, edad media: 69) y 20 biopsias pleurales cerradas (7 mujeres/13 varones, edad media: 64). De forma global el indicador del CIT se cumple en 125/146 (85,6%) de las historias clínicas revisadas y el CIBPC en 18/20 (90%). Por hospitales 3/6 (50%) cumplen el indicador del CIT y 5/6 (83%) el CIBPC. Están informatizados 5 de los hospitales participantes, sólo uno utiliza la firma electrónica y existen archivos parciales en 2/6. No hay homogeneidad en los consentimientos informados. Conclusiones. El 50% de los hospitales cumple el indicador del CIT y el 83% el CIBPC. Existen diversos modelos de consentimiento informado en la Comunidad de Madrid localizados en la historia clínica, en la digital y en archivos parciales, que se deberían homogeneizar y simplificar

Objective. To measure the degree of compliance of two quality indicators in pleural pathology: informed consent in thoracocentesis (ICT) and informed consent in transthoracic needle biopsy (ICTTNB). Material and methods. Retrospective study carried out in 6 hospitals of the Community of Madrid. All thoracocentesis and transthoracic needle biopsy performed by a pneumologist were selected from 12/01/2016 to 02/28/2017, in patients > 16 years with pleural effusion. Variables to study: age, sex, model of informed consent, presence of ICT and ICTTNB in the clinical history or in partial files and computerization of the hospital. Good compliance was considered when the informed consent was present and correctly completed in > 90% of the clinical history. The variables were collected in an Excel table. Analysis by Stata v.12. Results. 146 thoracocentesis was performed (63 women/83 men, average age: 69) and 20 transthoracic needle biopsy (7 women/13 men, mean age: 64). Overall, the ICT indicator is met in 125/146 (85.6%) of the revised clinical history and the ICTTNB in 18/20 (90%). By hospitals 3/6 (50%) meet the ICT indicator and 5/6 (83%) the ICTTNB. They are computerized 5 of the participating hospitals, only one uses the electronic signature and there are partial files in 2/6. There is no homogeneity in the informed consent. Conclusions. 50% of the hospitals meet the ICT indicator and the 83% ICTTNB one. There are several informed consent's models in the Community of Madrid located in the clinical history, in digital and in partial files, which should be standardized and simplified

Testosterone is related to GABA+ levels in the posterior-cingulate in unmedicated depressed women during reproductive life.

BACKGROUND: The role of testosterone (T) in the pathophysiology of affective disorders and anxiety is broadly supported. Evidence suggests that T has anxiolytic and antidepressant properties. One proposed route for the central effects of T is its interaction with the gamma-aminobutyric acid (GABA) system. We explored the relationship between T levels and GABA+ levels in anterior-cingulate (ACC) and the posterior-cingulate (PCC) regions in depressed women, using magnetic resonance spectroscopy (1H-MRS). METHODS: Twenty-one depressed patients with regularly cycling who were not taking hormonal or psychotropic drugs were recruited. We assessed severity of depression using the Hamilton Depression Rating Scale (HDRS). Blood samples were taken for quantification of free (FT) and total testosterone (TT) on the day of the magnetic resonance (MR) scan. We evaluated GABA+ levels in the PCC and ACC, using the Hadamard Encoding and Reconstruction of MEGA-Edited Spectroscopy (HERMES) sequence. Pearson correlations were used to evaluate the association between FT, TT, GABA+ concentrations, and HDRS scores. RESULTS: TT and FT levels were positively correlated with GABA+ levels in the PCC. No correlation was observed between T levels and GABA+ levels in the ACC. The HDRS total scores correlated negatively with FT levels. LIMITATIONS: Limitations include the cross-sectional evaluation and the lack of a comparative healthy group. CONCLUSIONS: Our findings suggest that the potential anxiolytic and antidepressant properties of T are related to increased GABA+ levels in the PCC. This observation may contribute to increased understanding of the role of T in depressive and anxiety symptoms in women.

Rearing in captivity affects spermatogenesis and sperm quality in greater amberjack, Seriola dumerili (Risso, 1810).

The greater amberjack, (Risso, 1810), is a promising candidate for the diversification of European aquaculture production, but inconsistent reproduction in captivity prevents commercial production. Recent studies showed that greater amberjack confined in sea cages exhibited scarce gonad development and early interruption of gametogenic activity during the reproductive season. The aim of the present study was to improve our understanding of the observed impairment of spermatogenesis. Adult wild and captive-reared males were sampled during 3 different phases of the reproductive cycle: early gametogenesis (EARLY; late April to early May), advanced gametogenesis (ADVANCED; late May to early June), and spawning (SPAWNING; late June to July). Spermatogonial stem cells and proliferating germ cells were identified through the immunohistochemical localization of and proliferating cell nuclear antigen, respectively. Apoptotic germ cells were identified throughout the terminal deoxynucleotidyl transferase-mediated 2'-deoxyuridine 5'-triphosphate nick end labeling method. Sperm quality of captive-reared fish was evaluated using computer-assisted sperm analysis. Captive-reared males exhibited seminiferous lobules of a smaller diameter, a precocious and progressive decrease of spermatogonial mitosis, and a high level of apoptosis at the beginning of the reproductive season, concomitant with a many-fold higher 17ß-estradiol plasma concentration. The motile spermatozoa percentage of captive greater amberjack was lower than in other teleosts, and a drastic decrease of spermatozoa motility duration, velocity, and ATP content occurred along the reproductive season. An abnormal increase of sperm concentration as well as an increase of dead spermatozoa occurred during the SPAWNING phase, probably because of lack of sperm hydration and ejaculation and consequent sperm ageing. The present study demonstrates the extreme susceptibility of greater amberjack to rearing stress and underscores the need for improvement of the rearing and handling procedures to ameliorate gametogenesis dysfunctions in commercial aquaculture production.

Derrame pleural maligno como debut de neoplasia no conocida / No disponible

Objetivo: Conocer el origen de la neoplasia en los pacientes con derrame pleural maligno (DPM) como primera manifestación de enfermedad tumoral. Diseño: Estudio retrospectivo y multicéntrico, desarrollado en 11 hospitales públicos de la Comunidad de Madrid, en el que se incluyeron todos los pacientes consecutivos con DPM, sin antecedentes de neoplasia conocida entre el 1 de abril de 2008 y el 1 de abril de 2013. Resultados: El diagnóstico del tumor primario se realizó mediante muestras citohistológicas en 339 pacientes (84%). El cáncer de pulmón destacó como el origen más frecuente del DPM tanto en hombres (59%) como en mujeres (46%), siendo el adenocarcinoma la estirpe histológica más frecuente. Los tumores pleurales primarios ocuparon el segundo lugar en frecuencia (20%), de los que el 92% fueron mesoteliomas. En tercer lugar se situaron en igual proporción (5,5%), las neoplasias hematológicas y los tumores ováricos. El cáncer mamario, junto con los tumores digestivos, renales y urológicos fueron muy infrecuentes (<2%). En 39 pacientes (9,7%) no fue posible determinar el origen neoplásico. Se hallaron otras metástasis a distancia en 187 pacientes (47%). Conclusión: El pulmón es el órgano que con mayor frecuencia produce DPM como primera manifestación de enfermedad neoplásica, seguido por las neoplasias pleurales. En ausencia de otros síntomas, el clínico debe dirigir sus esfuerzos iniciales a descartar uno de estos órganos como el origen tumoral. En mujeres, nuestro estudio obliga a cambiar la sospecha y enfoque clínico, ya que en esta situación el carcinoma mamario es muy infrecuente

Objective: To determine the origin of neoplasms in patients with malignant pleural effusion (MPE) as the initial manifestation of tumor disease. Material and methods: This is a retrospective, multicenter study. It was developed at 11 public hospitals in the Community of Madrid, and included all consecutive patients with MPE and no history of previously detected neoplasm between April 1, 2008 and April 1, 2013. Results: We studied 402 patients with MPE. We obtained a cytohistological diagnosis of the primary tumor in 339 of them (84%). Lung cancer was the most frequent origin of the MPE in both men (59%) and in women (46%), while adenocarcinoma was the most frequent histological type. Primary pleural tumors were the second most frequent (20%), 92% of which were mesotheliomas. Third were both hematological cancers and ovarian tumors (5,5%). Breast cancer, along with gastrointestinal, renal and urological tumors, were very rare (<2%). It was not possible to determine the origin of the neoplasm in 39 patients (9,7%). Other distant metastases were found in 187 patients (47%). Conclusion: The lungs are the organs that most frequently produce MPE as the initial manifestation of neoplastic disease, which is followed in frequency by pleural neoplasms. Therefore, in the absence of other symptoms, clinicians should aim their initial efforts at ruling out one of these organs as the tumor origin. Our study shows that the clinical suspicion and focus should be changed when diagnosing women, because MPE is uncommon as the first manifestation of breast cancer

Clinical and biomechanical perspectives on pressure injury prevention research: The case of prophylactic dressings.

In this perspective paper, we discuss clinical and biomechanical viewpoints on pressure injury (or pressure ulcer) prevention research. We have selected to focus on the case of prophylactic dressings for pressure injury prevention, and the background of the historical context of pressure injury research, as an exemplar to illuminate some of the good and not so good in current biomechanical and clinical research in the wound prevention and care arena. Investigators who are conducting medical or clinical research in academia, in medical settings or in industry to determine the efficacy of wound prevention and care products could benefit from applying some basic principles that are detailed in this paper, and that should leverage the research outcomes, thereby contributing to setting higher standards in the field.

Características epidemiológicas y análisis de supervivencia en una consulta de cáncer de pulmón / No disponible

Objetivo: Nuestro objetivo principal es conocer la supervivencia de los pacientes diagnosticados de cáncer de pulmón (CP) en una consulta monográfica. Los objetivos secundarios son conocer sus características epidemiológicas y los tiempos de demora hasta el diagnóstico y tratamiento. Pacientes y método: Estudio retrospectivo de las características epidemiológicas y análisis de supervivencia de los pacientes diagnosticados de cáncer de pulmón. Para la comparación de medias se utilizó la U de Mann Whitney. Para el análisis de supervivencia se utilizó la prueba de Kaplan-Meyer. Resultados: Se analizaron 37 pacientes, edad media ± SD: 67 ± 8,4. Treinta y tres eran varones y casi el 92% tenían antecedentes de tabaquismo. Predominio de epidermoides (37,8%). El 69% se diagnosticaron en un estadio avanzado. Se objetivaron diferencias significativas en cuanto al tiempo diagnóstico, siendo mayor en los estadios iniciales. La mediana de supervivencia fue de 12,83 meses (IC 95%: 6,84 a 18,83). El porcentaje de pacientes vivos al final del estudio fue del 24%. Cuando se comparó por grupos, se observó que la mediana era mayor en mujeres, en pacientes sin EPOC, en EPOC graves frente a leves moderados, en los tumores no microcíticos y en los estadios quirúrgicos. Conclusiones: Nuestros datos de supervivencia son algo superiores a lo descrito en la literatura. Llama la atención la mayor supervivencia en pacientes con EPOC grave que en los leves-moderados. Los tiempos diagnósticos y hasta inicio de tratamiento están dentro de lo recomendado por las guías. El predominio de epidermoides puede justificarse por el mayor número de varones y la alta incidencia de tabaquismo

Introduction: The aim of this study is to know the survival rates in our outpatients with lung cancer (LC), the epidemiology and the delay time for diagnosis and treatment. Patients and methods: A retrospective study was performed in patients with LC. Survival was estimated by the Kaplan-Meier method. The U-Mann Whitney test was used to compare variables. Results: 37 patients were studied, with a mean age of 67 ± 8.3. 33 of them were men and 92% were smoker. The most were epidermoids (37.8%). 69% were diagnosed in a advanced stage. Time interval for diagnosis was longer in earlier stage. Mean survival time was 12.83 months (CI 95%: 6.84 to 18.83). Survival rates at the end of the study was 24%. Mean survival was better in women, patients without COPD, in severe COPD, non small cell lung carcinomas and in earliest stages. Conclusions: Our survival rates are a little better than other studies but they remain poor. The delay time for diagnosis and treatment is the recommended for de guides. The higher rates of epidermoids can be explained by a higher number of men and the high rates of smokers. The higher survival rates in severe COPD is not described by other groups

Clinical effectiveness of a silicone foam dressing for the prevention of heel pressure ulcers in critically ill patients: Border II Trial.

OBJECTIVE: Critically ill patients are at high risk of developing pressure ulcers (PU), with the sacrum and heels being highly susceptible to pressure injuries. The objective of our study was to evaluate the clinical effectiveness of a new multi-layer, self-adhesive soft silicone foam heel dressing to prevent PU development in trauma and critically ill patients in the intensive care unit (ICU). METHOD: A cohort of critically ill patients were enrolled at the Royal Melbourne Hospital. Each patient had the multi-layer soft silicone foam dressing applied to each heel on admission to the emergency department. The dressings were retained with a tubular bandage for the duration of the patients' stay in the ICU. The skin under the dressings was examined daily and the dressings were replaced every three days. The comparator for our cohort study was the control group from the recently completed Border Trial. RESULTS: Of the 191 patients in the initial cohort, excluding deaths, loss to follow-up and transfers to another ward, 150 patients were included in the final analysis. There was no difference in key demographic or physiological variables between the cohorts, apart from a longer ICU length of stay for our current cohort. No PUs developed in any of our intervention cohort patients compared with 14 patients in the control cohort (n=152; p<0.001) who developed a total of 19 heel PUs. CONCLUSION: We conclude, based on our results, that the multi-layer soft silicone foam dressing under investigation was clinically effective in reducing ICU-acquired heel PUs. The findings also support previous research on the clinical effectiveness of multi-layer soft silicone foam dressings for PU prevention in the ICU.

An estimate of the potential budget impact of using prophylactic dressings to prevent hospital-acquired PUs in Australia.

OBJECTIVE: To estimate the potential cost saving to the Australian health-care system of introducing the use of prophylactic dressings to prevent hospital-acquired pressure ulcers (PUs) for patients with a high-risk developing a PU. METHOD: We estimated the costs of pressure ulceration based on conservative estimates of an incidence rate of 13% within 10% of the total admitted Australian patient population. RESULTS from a recent large randomised control trial of prophylactic dressing used to prevent PUs in high-risk patients were then extrapolated to this population to derive a potential national cost/benefit calculation. RESULTS: Our estimate revealed that within the high-risk population of acute hospitals, more than 71,000 patients could be expected to develop a PU annually costing AU$77,800,000 (£43,000,000). Whereas by implementing a national PU prevention initiative based on the use of prophylactic multilayer silicone foam dressings for high-risk patients, an annual saving of AU$34,800,000 (£19,700,000) could be achieved, which represents a cost benefit of 55% to the Australian health-care system. CONCLUSION: Our estimate of the potential cost benefit of implementing the use of prophylactic dressings to prevent hospital acquired PUs in high-risk patients uses conservative estimates of both the incidence rates of ulceration and of treatment costs. However, this is also based on one of the largest reported randomised control trials of this technique to prevent PUs. We believe that our modelling is robust yet requires replication in other countries with different health-care systems and costing structures.

Características generales del derrame pleural maligno secundario a neoplasias de diferentes orígenes / No disponible

La presencia de un derrame pleural maligno (DPM) complica la evolución de los pacientes diagnosticados de un cáncer porque implica un estadio más avanzado de la enfermedad, un peor pronóstico y una peor calidad de vida. Aproximadamente el 50% de los pacientes con un cáncer diseminado desarrollará un DPM. El cáncer de pulmón, el cáncer de mama y los linfomas son los tumores que con más frecuencia lo producen. El diagnóstico del DPM se basa en la presencia de células tumorales malignas en la citología del líquido pleural o en la histología de la biopsia pleural. Existen varias opciones terapéuticas: la toracocentesis evacuadora, la pleurodesis, las derivaciones pleuroperitoneales, la colocación de catéteres pleurales tunelizados, la quimioterapia en tumores quimiosensibles y otros en estudio como la instilación intrapleural de agentes antineoplásicos

The presence of malignant pleural effusion (MPE) complicates the course of cancer-diagnosed patients because it implies a more advanced stage of the disease, worse prognosis and worse quality of life. Approximately 50% of the patients with disseminated cancer develop MPE. Lung cancer, breast cancer and lymphomas are the tumors that more frequently cause it. The diagnosis of MPE is based on the presence of malignant tumor cells in the pleural fluid cytology or in the pleural biopsy histology. There are several therapeutic options: evacuating thoracentesis, pleurodesis, pleuroperitoneal shunting, placement of tunnelled pleural catheters, chemotherapy in chemosenstive tumors and others that are under study such as intrapleuralinstillation of antineoplastic drugs

Liver melanomacrophage centres as indicators of Atlantic bluefin tuna, Thunnus thynnus L. well-being.

Melanomacrophage centres (MMCs), located in different organs of non-mammalian vertebrates, play a role in the destruction, detoxification or recycling of endogenous and exogenous materials. Cytochrome P450 monoxygenase 1A (CYP1A) is involved in xenobiotics biotransformation, and its liver expression is considered as a biomarker for detecting exposure to environmental pollutants. Atlantic bluefin tuna (ABFT), Thunnus thynnus L., liver samples were collected from: wild animals caught in the eastern Atlantic; juveniles reared in the central Adriatic; juveniles reared in the northern Adriatic; adults reared in the western Mediterranean. The samples were processed for basic histology, histochemistry and for CYP1A immunodetection. An unexpected high density of MMCs, containing ferric iron and lipofuscin-ceroids, was detected in the juveniles sampled in the northern Adriatic Sea. These individuals showed also a strong anti-CYP1A immunopositivity in hepatocytes and in the epithelium of bile ducts. This study supports the utility of MMCs as biomarkers of fish 'health status' and gives concern for a potential contaminant accumulation in ABFT.

Expression of vitellogenin receptor gene in the ovary of wild and captive Atlantic bluefin tuna (Thunnus thynnus).

The cDNA sequences of vitellogenin receptor proteins (VgR(+) and VgR(-)), containing or lacking the O-linked sugar domain, were determined in Atlantic bluefin tuna (Thunnus thynnus L.). VgR(-) gene expression in the ovary was compared in captive-reared and wild Atlantic bluefin tuna during the reproductive cycle. Gonad samples from adult fish were sampled from 2008 to 2010 from stocks reared in captivity at different commercial fattening operations in the Mediterranean Sea and from wild individuals caught either by traditional tuna traps during their migration towards the spawning grounds in the Mediterranean Sea or by the long-line artisanal fishery. In addition, juvenile male and female Atlantic bluefin tuna were sampled from a farming facility, to obtain baseline information and pre-adulthood amounts of VgR(-). The total length of VgR(+) cDNA was 4006 nucleotides (nt) and that of VgR(-) was 3946 nt. Relative amounts of VgR(-) were greater in juvenile females and in those adults having only previtellogenic oocytes (119 ± 55 and 146 ± 26 folds more than juvenile males, respectively). Amounts of VgR(-) were less in individuals with yolked oocytes (ripening stage, May-June) and increased after spawning in July (92 ± 20 and 113 ± 13 folds more than juvenile males in ripening and post-spawning fish, respectively). These data suggest that regulation of VgR(-) is not under oestrogen control. During the ripening period, greater VgR(-) gene expression was observed in wild fish than in fish reared in captivity, possibly because of (a) differences in water temperature exposure and/or energy storage, and/or (b) an inadequate diet in reared Atlantic bluefin tuna.

Evidence that severe acute stress and starvation induce rapid atresia of ovarian vitellogenic follicles in Atlantic bluefin tuna, Thunnus thynnus (L.) (Osteichthyes: Scombridae).

The effects of different stressors on the atretic degeneration of ovarian vitellogenic follicles, as well as on the ovarian mass, were examined in female Atlantic bluefin tuna, Thunnus thynnus (L.), from the Mediterranean Sea. The stressors taken into consideration were short-term starvation (up to 14 days), long-term cage rearing (1 year) and crowding-induced severe panic frenzy. Wild-caught individuals were used as a control group. Fish subjected to either severe panic frenzy or starvation exhibited a decrease in gonad mass and had significantly higher intensity of α atresia in the vitellogenic follicles (means: 78% and 58%, respectively; range: 36-100%) than either wild or long-term caged individuals (means: 32% and 30%, respectively; range: 19-44%). The extensive atresia in fish stressed by severe panic frenzy was observed as early as 24 h after the stressing event. The present study represents the first evidence of the extreme susceptibility of Atlantic bluefin tuna to severe acute stress during vitellogenesis; it also shows that starvation is associated with progressive reabsorption of vitellogenic oocytes.

Predicting concordance with multilayer compression bandaging.

OBJECTIVE: To examine the relationship between concordance with multilayer compression bandaging and a number of client and wound characteristics, including wound severity, health status and client independence with respect to activities of daily living. METHOD: Using data gathered for a randomised controlled trial that compared two types of antimicrobial dressings on infected or critically colonised lower leg ulcers, we explored the level of concordance with compression therapy by patients with wounds that had an ankle brachial pressure index of between 0.8 and 1.2. RESULTS: A logistic regression analysis found that increased pain and wound size, older age and shallow wound depth were all significant predictors of non-concordance with multilayer compression bandaging. CONCLUSION: Although the results suggest that pain, wound size, age and wound depth are all significant predictors of non-concordance with multilayer bandaging, the generalisability of these results is limited, given that data were gathered in the context of a RCT. Further studies are required to explore the relative contribution of predictors of concordance with compression therapy, in order to help inform strategies that promote it and, thereby, optimise healing. CONFLICT OF INTEREST: None.

Marcadores biológicos en el diagnóstico del derrame pleural maligno / Biological markers for malignant pleural effusions

En el proceso diagnóstico de los pacientes con derrame pleural y alta sospecha de malignidad, nos preguntamos con cierta frecuencia sobre la utilidad de algunos marcadores tumorales séricos o del líquido pleural. Hasta la fecha, los marcadores tumorales analizados de forma aislada no han mostrado una precisión diagnóstica lo suficientemente elevada como para prescindir del estudio mediante citología e histología de la pleura. Esta cuestión ha estimulado el desarrollo de múltiples paneles de marcadores bioquímicos e inmunohistoquímicos cuya combinación ha permitido mejorar la sensibilidad y la especificidad, discriminar entre lesiones benignas y malignas, y entre diferentes estirpes tumorales. Asimismo, ha permitido que dichos paneles de marcadores sirvan como factores pronósticos y de supervivencia. Hoy por hoy, no es posible recomendar unos paneles de marcadores específicos para cada estirpe. Nuestro objetivo es acercar al clínico la evidencia existente sobre esta materia para que tenga un conocimiento del significado de estos marcadores y de la conveniencia de saber interpretar los resultados obtenidos (AU)

The diagnostic process of patients with pleural effusion and high suspicion of malignancy often leads us to question the utility of some serum or pleural fluid tumor markers. Up to date, the tumor markers analyzed separately have not demonstrated sufficiently high diagnostic accuracy to obviate the study by cytology and histology of the pleura. This question has encouraged the development of multiple biochemical and immunohistochemical marker panels whose combination has made it possible to improve sensitivity and specificity, discriminate between benign and malignant lesions and between different tumor strains and it behaves as prognostic and survival factors. Currently, it is not possible to recommend specific marker panels for each strain, our objective being to make the existing evidence on this material more available to the clinician in order to have knowledge of the meanings of these markers and the convenience of knowing how to interpret the results obtained (AU)