RESUMEN

Multiple trichoepithelioma syndrome is a rare entity, and little is known about its epidemiological features. Patients usually present with multiple nonsuspicious skin lesions. Surgical excision is the mainstay of treatment, and diagnosis is usually made after the first pathology report. Once the diagnosis is established, patients are kept under clinical surveillance, and surgery is performed again if tumor burden and/or size justifies it. The authors present a male patient who presented to our outpatient clinic for the first time in 36 years without any relevant medical history, medication, or allergies. The patient had complaints of multiple skin lesions spreading across the head and neck regions. Surgical excision of the affected area and resurfacing using local advancement flaps were performed. Pathology reports were always consistent with trichoepitheliomas. No pathology of spiradenoma or cylindroma was ever reported. Usually, tumors are small enough for simple excision and primary closure. However, in the presented case, the size of the tumor and the involvement of central facial aesthetic units demanded a more complex approach.

Asunto(s)

Lipoma , Síndromes de Compresión Nerviosa

RESUMEN

Purpose: Home mechanical ventilation (HMV) use in chronic obstructive pulmonary disease (COPD) is becoming increasingly widespread. The aim of this study was to provide an accurate description of the current practices and clinical characteristics of COPD patients on HMV in Portugal. Methods: The study was designed as a cross-sectional, multicenter real-life study of COPD patients established on HMV for at least 30 days. Data related to clinical characteristics, adaptation and ventilatory settings were collected. Results: The study included 569 COPD patients on HMV from 15 centers. The majority were male, with a median age of 72 years and a high prevalence of obesity (43.2%) and sleep apnea (45.8%). A high treatment compliance was observed (median 8h/day), 48.7% with inspiratory positive airway pressure ≥20 cmH2O and oronasal masks were the preferred interface (91.7%). There was an equal distribution of patients starting HMV during chronic stable condition and following an exacerbation. Patients in stable condition were initiated in the outpatient setting in 92.3%. Despite the differences in criteria and setting of adaptation and a slightly lower BMI in patients starting HMV following an exacerbation, we found no significant differences regarding age, gender, ventilation pressures, time on HMV, usage, severity of airflow obstruction or current arterial blood gas analysis (ABGs) in relation to patients adapted in stable condition. Conclusion: Patients were highly compliant with the therapy. In agreement with most recent studies and recommendations, there seems to be a move towards higher ventilation pressures, increased use of oronasal masks and an intent to obtain normocapnia. This study shows that chronic hypercapnic and post exacerbation patients do not differ significantly regarding patient characteristics, physiological parameters or ventilatory settings with one exception: chronic hypercapnic patients are more often obese and, subsequently, more frequently present OSA.

Asunto(s)

Servicios de Atención de Salud a Domicilio , Ventilación no Invasiva , Enfermedad Pulmonar Obstructiva Crónica , Anciano , Estudios Transversales , Femenino , Humanos , Hipercapnia , Masculino , Ventilación no Invasiva/efectos adversos , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Enfermedad Pulmonar Obstructiva Crónica/terapia , Respiración Artificial/efectos adversos

Asunto(s)

Mano , Infecciones

RESUMEN

Despite having a membrane that is impermeable to all but the smallest of metabolites, peroxisomes acquire their newly synthesized (cytosolic) matrix proteins in an already folded conformation. In some cases, even oligomeric proteins have been reported to translocate the organelle membrane. The protein sorting machinery that accomplishes this feat must be rather flexible and, unsurprisingly, several of its key components have large intrinsically disordered domains. Here, we provide an overview on these domains and their interactions trying to infer their functional roles in this protein sorting pathway.

Asunto(s)

Proteínas Intrínsecamente Desordenadas/metabolismo , Peroxisomas/metabolismo , Dominios y Motivos de Interacción de Proteínas , Humanos , Dominios Proteicos , Transporte de Proteínas , Transducción de Señal

RESUMEN

Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability. This deformity was addressed by minimally invasive hallux interphalangeal joint arthrodesis with internal and external fixation. We report the results at the 2-year follow-up point.

Asunto(s)

Acrocefalosindactilia/complicaciones , Artrodesis/métodos , Artroscopía/métodos , Hallux Varus/etiología , Hallux Varus/cirugía , Acrocefalosindactilia/diagnóstico , Artrodesis/instrumentación , Artroscopía/instrumentación , Tornillos Óseos , Niño , Femenino , Hallux Varus/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Posicionamiento del Paciente/métodos , Pronóstico , Radiografía/métodos , Enfermedades Raras , Resultado del Tratamiento

Asunto(s)

Granuloma Piogénico/cirugía , Coagulación con Láser/métodos , Enfermedades de la Tráquea/cirugía , Broncoscopía/métodos , Femenino , Humanos , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Resultado del Tratamiento

Asunto(s)

Humanos , Femenino , Persona de Mediana Edad , Granuloma Piogénico/cirugía , Coagulación con Láser/métodos , Enfermedades de la Tráquea/cirugía , Broncoscopía/métodos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento

Asunto(s)

Obstrucción de las Vías Aéreas/etiología , Enfermedades Pulmonares/etiología , Neumotórax/etiología , Síndrome de Sjögren/complicaciones , Femenino , Humanos

RESUMEN

OBJECTIVES: To assess the impact of gender on myocardial revascularization using data collected in a French nationwide registry: the national observational study of diagnostic and interventional cardiac catheterization (ONACI). BACKGROUND: Gender differences in management of patients with acute coronary syndromes (ACS) have been reported. METHODS: We analysed data from a nationwide French prospective multicentre registry including 64,932 suspected ACS patients recruited in 99 centres from 2004 to 2008. RESULTS: Overall, women were older (70.7 ± 12.7 vs. 63.8 ± 12.9 years), had a higher cardiovascular risk profile, and were more frequently admitted with non ST-elevation myocardial infarction or unstable angina (NSTEMI/UA) compared to men (73% vs. 68%). Women had significantly more angiographically normal coronary arteries or non-significant coronary artery disease (CAD) in both STEMI (6% vs. 3%) and NSTEMI/UA (21% vs. 11%) while men had more severe CAD. After adjusting for age, cardiovascular risk factors, and extent of disease, myocardial revascularization (defined as the use of percutaneous coronary intervention (PCI) or coronary artery bypass grafting) was less frequently used in women (adjusted OR = 0.78; 95% CI: 0.77-0.83). For those receiving PCI, in-hospital mortality within 24 hr of intervention was higher in women (3.6% vs. 1.2%; adjusted OR = 1.51; 95% CI: 1.22-1.87). CONCLUSIONS: In the present study, despite having a higher cardiovascular risk profile, women more frequently had normal vessel/non-significant angiographic coronary artery disease. In patients with significant coronary artery disease, myocardial revascularization was less frequently used in women whatever the type of ACS.

Asunto(s)

Síndrome Coronario Agudo/diagnóstico , Síndrome Coronario Agudo/terapia , Cateterismo Cardíaco/estadística & datos numéricos , Puente de Arteria Coronaria/estadística & datos numéricos , Disparidades en Atención de Salud , Intervención Coronaria Percutánea/estadística & datos numéricos , Evaluación de Procesos, Atención de Salud/estadística & datos numéricos , Síndrome Coronario Agudo/mortalidad , Factores de Edad , Anciano , Anciano de 80 o más Años , Cateterismo Cardíaco/efectos adversos , Cateterismo Cardíaco/mortalidad , Distribución de Chi-Cuadrado , Angiografía Coronaria/estadística & datos numéricos , Puente de Arteria Coronaria/efectos adversos , Puente de Arteria Coronaria/mortalidad , Femenino , Francia , Disparidades en el Estado de Salud , Mortalidad Hospitalaria , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Intervención Coronaria Percutánea/efectos adversos , Intervención Coronaria Percutánea/mortalidad , Valor Predictivo de las Pruebas , Puntaje de Propensión , Sistema de Registros , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Resultado del Tratamiento

RESUMEN

AIMS: A shorter time delay between onset of symptoms and first call for medical attention would be expected in patients with a history of ischemic heart disease (IHD). We aimed to determine whether time to first call for an ST-elevation myocardial infarction (STEMI) differed between patients with or without history of coronary artery disease from the French registry of acute ST-elevation or non-ST-elevation myocardial infarction (FAST-MI) 2010 registry. METHODS: FAST-MI 2010 is a nationwide French registry that included 4169 patients with acute myocardial infarction (AMI, 2193 STEMI) at the end of 2010 in 213 centers. Factors correlated with time to first call were assessed, with a specific emphasis on previous history of IHD (IHD+; n = 402), compared with patients without history of IHD (IHD-; n = 1791). RESULTS: Time from onset to first call was 222 ±â€Š420 min (median time 68 min) in IHD+ patients versus 240 ±â€Š4423 min (median time 75 min) in IHD- patients (P = 0.28). In multivariate analysis, only a few factors were significantly related to a shorter time from onset to first call (≤75min); time of onset during the day (7:00 a.m. to 11:00 p.m.), upper socioeconomic class, anterior MI, cardiac arrest as the initial symptom, whereas history of IHD was not associated with a shorter time delay (odds ratio 0.86; 95% confidence interval 0.70-1.05). Similar results were found between patients with previous AMI and IHD- patients. CONCLUSION: Patients with a history of IHD do not call earlier than IHD-naïve patients when they are confronted with symptoms of AMI. Cardiologists should spend more time educating their coronary patients to recognize symptoms of AMI.Clinicaltrials.gov identifier: NCT01237418.

Asunto(s)

Infarto del Miocardio/terapia , Aceptación de la Atención de Salud/estadística & datos numéricos , Educación del Paciente como Asunto/métodos , Anciano , Anciano de 80 o más Años , Enfermedad de la Arteria Coronaria/complicaciones , Enfermedad de la Arteria Coronaria/epidemiología , Femenino , Francia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Infarto del Miocardio/etiología , Admisión del Paciente/estadística & datos numéricos , Sistema de Registros , Clase Social

RESUMEN

Todas las guías recomiendan la intervención coronaria percutánea primaria como estrategia por defecto para el tratamiento de reperfusión de pacientes con infarto agudo de miocardio con elevación del segmento ST. Estas recomendaciones se basan en ensayos aleatorizados en los que se ha comparado la intervención coronaria percutánea primaria con la fibrinolisis intravenosa sola. Sin embargo, desde la época en que se llevaron a cabo esos ensayos, se han realizado otros estudios que han puesto de manifiesto que usar la intervención coronaria percutánea de rescate en pacientes que no presentan signos de reperfusión después del tratamiento lítico y la angiografía coronaria sistemática en las primeras 24 h tras la administración de dicho tratamiento para todos los demás pacientes mejora los resultados del tratamiento fibrinolítico intravenoso. Esto ha llevado a proponer la estrategia farmacoinvasiva como alternativa a la intervención coronaria percutánea primaria. De hecho, no es infrecuente que las circunstancias concretas impidan la intervención coronaria percutánea primaria dentro de los límites temporales recomendados en las guías. En tales casos, el uso de una estrategia farmacoinvasiva puede ser una alternativa válida. Tanto el ensayo aleatorizado STREAM como la experiencia de la práctica clínica real, y en especial los resultados a largo plazo del registro FAST-MI, indican que la estrategia farmacoinvasiva, cuando se utiliza en una población adecuada, puede compararse favorablemente con la intervención coronaria percutánea primaria. Así pues, la puesta en práctica de un protocolo de estrategia farmacoinvasiva puede ser un complemento importante para compensar las posibles limitaciones de las redes de tratamiento del infarto agudo de miocardio con elevación del segmento ST (AU)

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All guidelines recommend primary percutaneous coronary intervention as the default strategy for achieving reperfusion in ST-segment elevation myocardial infarction patients. These recommendations are based upon randomized trials which compared primary percutaneous coronary intervention with stand-alone intravenous fibrinolysis. Since the time these trials were performed, however, it has been shown in further trials that use of rescue percutaneous coronary intervention in patients without signs of reperfusion after lysis, and routine coronary angiography within 24 h of the administration of lysis for all other patients, substantially improved the results of intravenous fibrinolytic treatment. This has led to proposing the pharmaco-invasive strategy as an alternative to primary percutaneous coronary intervention. Actually, it is not uncommon that circumstances prevent performing primary percutaneous coronary intervention within the recommended time limits set by the guidelines. In such cases, using a pharmaco-invasive strategy may constitute a valid alternative. Both the STREAM randomized trial and real-world experience, in particular the long-term results from the FAST-MI registry, suggest that the pharmaco-invasive strategy, when used in an appropriate population, compares favorably with primary percutaneous coronary intervention. Therefore, implementing a pharmaco-invasive strategy protocol may be an important complement to compensate for potential weaknesses in ST-segment elevation myocardial infarction networks (AU)

Asunto(s)

Humanos , Infarto del Miocardio/cirugía , Angioplastia Coronaria con Balón/métodos , Enfermedad Coronaria/cirugía , Fibrinólisis/fisiología , Intervención Coronaria Percutánea

RESUMEN

All guidelines recommend primary percutaneous coronary intervention as the default strategy for achieving reperfusion in ST-segment elevation myocardial infarction patients. These recommendations are based upon randomized trials which compared primary percutaneous coronary intervention with stand-alone intravenous fibrinolysis. Since the time these trials were performed, however, it has been shown in further trials that use of rescue percutaneous coronary intervention in patients without signs of reperfusion after lysis, and routine coronary angiography within 24 h of the administration of lysis for all other patients, substantially improved the results of intravenous fibrinolytic treatment. This has led to proposing the pharmaco-invasive strategy as an alternative to primary percutaneous coronary intervention. Actually, it is not uncommon that circumstances prevent performing primary percutaneous coronary intervention within the recommended time limits set by the guidelines. In such cases, using a pharmaco-invasive strategy may constitute a valid alternative. Both the STREAM randomized trial and real-world experience, in particular the long-term results from the FAST-MI registry, suggest that the pharmaco-invasive strategy, when used in an appropriate population, compares favorably with primary percutaneous coronary intervention. Therefore, implementing a pharmaco-invasive strategy protocol may be an important complement to compensate for potential weaknesses in ST-segment elevation myocardial infarction networks.

Asunto(s)

Angioplastia Coronaria con Balón/normas , Infarto del Miocardio/terapia , Guías de Práctica Clínica como Asunto , Sistema de Registros , Terapia Trombolítica/normas , Angiografía Coronaria , Electrocardiografía , Fibrinolíticos/uso terapéutico , Humanos , Infarto del Miocardio/diagnóstico por imagen

RESUMEN

Os autores apresentam um novo sistema de confeçäo da contençäo fixa colada pós tratamento, na qual uma "Tela" é envolvida e fixada nas linguais dos dentes interessados por uma resina composta fóto-polimerizável

Asunto(s)

Humanos , Masculino , Femenino , Dentadura Parcial Fija con Resina Consolidada , Alambres para Ortodoncia , Prótesis Periodontal , Ferulas Periodontales

RESUMEN

Apresentação de um novo tipo de confecção da contenção fixa usada na ortodontia, na qual é usada uma tela envolvida e fixada nas linguais dos dentes interessados por uma resina composta fotopolimerizada

Asunto(s)

Diastema/terapia , Aparatos Ortodóncicos

RESUMEN

Os autores relatam a experiencia do Serviço de Colo-Proctologia do Hospital-Escola da FMTM no tratamento cirurgico do megacolon chagasico com a tecnica de Duhamel-Haddad no periodo de cinco anos e analisam as complicaçoes precoces observadas. As complicaçoes infecciosas foram responsaveis pela alta morbidade e elevado tempo medio de hospitalizaçao. A mortalidade foi relativamente baixa (2,4//)

Asunto(s)

Humanos , Masculino , Femenino , Megacolon/cirugía , Procedimientos Quirúrgicos Operativos , Megacolon/terapia