RESUMO
La tuberculosis es una de las principales causas de mortalidad infantil, alcanzando una tasa de mortalidad de hasta 40% en los casos entre 0 y 4 años. Una forma infrecuente es la otomastoiditis tuberculosa (TOM), siendo un desafío diagnóstico, con consecuencias severas como destrucción del oído medio, hipoacusia y diseminación intracraneal. Se presenta el caso de un lactante de 8 meses con mal control pediátrico, desnutrido, donde la tuberculosis ótica fue un hallazgo secundario a otorrea persistente en el contexto de tuberculosis diseminada y múltiples otras infecciones. El diagnóstico de TOM es desafío diagnóstico, dado lo inespecífico del cuadro. Clásicamente, se describe otorrea persistente pese a tratamiento, hipoacusia y parálisis facial, con microscopía con granulaciones pálidas y perforaciones timpánicas múltiples. Los métodos diagnósticos tradicionales tienen un mal rendimiento, el cultivo de Koch alcanza una sensibilidad de hasta un 35%, mientras que pruebas basadas en la detección de ADN de 95%. La instalación de terapia antituberculosa es fundamental para la prevención de complicaciones locales y diseminación, mientras que el abordaje quirúrgico se reservará para casos con complicaciones.
Tuberculosis is one of the leading causes of child mortality, with a mortality rate of up to 40% in cases between 0 and 4 years old. An uncommon form is tuberculous otomastoiditis (TOM), which poses a diagnostic challenge and has severe consequences such as destruction of the middle ear, hearing loss, and intracranial dissemination. Clinical case: We present the case of an 8-month-old infant with poor pediatric control and malnutrition, where otic tuberculosis was a secondary finding due to persistent otorrhea in the context of disseminated tuberculosis and multiple other infections. Discussion: The diagnosis of TOM is a diagnostic challenge given the nonspecific presentation. Classically, it is characterized by persistent otorrhea despite treatment, hearing loss, and facial paralysis, with microscopy showing pale granulations and multiple tympanic perforations. Traditional diagnostic methods have poor performance, with Koch's culture achieving a sensitivity of up to 35%, while DNA-based tests reach 95% sensitivity. The initiation of antituberculosis therapy is crucial for the prevention of local complications and dissemination, while surgical intervention is reserved for cases with complications.
Assuntos
Humanos , Masculino , Lactente , Otite Média/diagnóstico , Tuberculose/diagnóstico , Mycobacterium tuberculosisRESUMO
Introducción: El colesteatoma del conducto auditivo externo (CCAE) es una estructura quística revestida por epitelio escamoso estratificado queratinizado que tiene la capacidad de invadir y erosionar localmente al hueso temporal. Su incidencia es de 0,19 a 0,3/100.000 habitantes siendo 60 veces menos frecuente que el de oído medio. Objetivo: Describir las características epidemiológicas, clínicas, imagenológicas y tratamiento de los pacientes diagnosticados con CCAE en el Servicio de Otorrinolaringología Hospital del Salvador. Material y Método: Se presenta una serie de ocho casos clínicos recopilados durante el período 2017 y 2021. Se realizó revisión de fichas clínicas, biopsias y tomografías computadas de oídos (TC oídos). Se describen los hallazgos y tratamiento efectuado. Resultados: El promedio de edad fue de 65,6 años, correspondiente a 5 mujeres y 3 hombres con presencia de tabaquismo y diabetes en la mitad de los casos. Los síntomas y signos más frecuentes fueron otalgia e hipoacusia seguido de otorrea. 7 pacientes se presentaron con tímpano íntegro y el compromiso de la pared inferior del conducto se evidenció en 6 de 8 pacientes. La TC oídos mostró erosión ósea del conducto, con o sin compromiso de estructuras adyacentes, en todos los casos y el diagnóstico histológico fue efectuado en el 100% de los pacientes. Se privilegió el tratamiento conservador mediante curaciones óticas periódicas asociado a ácido salicílico al 3% y/o antibióticos tópicos en 6/8 pacientes. Conclusiones: El CCAE es una entidad poco frecuente sin signos ni síntomas patognomónicos por lo que el diagnóstico histológico junto con el estudio imagenológico es perentorio. El tratamiento conservador es una alternativa terapéutica válida que ofrece buenos resultados en pacientes con adecuada adherencia al tratamiento y posibilidad de seguimiento estricto.
Introduction: External ear canal cholesteatoma (EECC) is a cystic structure lined by keratinized stratified squamous epithelium that has the ability to locally invade and erode the temporal bone. Its incidence is 0.19 to 0.3 / 100,000 habitants, being 60 times less frequent than that of the middle ear. Aim: To describe the epidemiological, clinical, imaging and treatment characteristics of patients diagnosed with EECC in the Hospital del Salvador ENT department. Material and Methods: A series of eight clinical cases collected during the period 2017 and 2021 is presented. A review of clinical records, biopsies and computed tomography of the ear (ear CT) was carried out. The findings and treatment carried out are described. Results: The average age was 65.6 years corresponding to 5 women and 3 men with the presence of smoking and diabetes in half of the cases. The most frequent symptoms and signs were earache and hearing loss followed by otorrhea. 7 patients presented with an intact eardrum and compromise of the inferior wall of the canal was evidenced in 6 of 8 patients. Ears CT showed bone erosion of the canal with or without compromise of adjacent structures in all cases and the histological diagnosis was made in 100% of the patients. Conservative treatment with periodic ear dressings associated with 3% salicylic acid and / or topical antibiotics was favored in 6/8 patients. Conclusion: EECC is a rare entity without pathognomonic signs or symptoms, therefore the histological diagnosis together with the imaging study is peremptory. Conservative treatment is a valid therapeutic alternative that offers good results in patients with adequate adherence to treatment and the possibility of strict follow-up.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Colesteatoma/diagnóstico , Colesteatoma/epidemiologia , Meato Acústico Externo/diagnóstico por imagem , Tomografia , Chile/epidemiologia , Epidemiologia DescritivaRESUMO
Introducción: El olfato tiene una gran importancia en la calidad de vida. Los accesos quirúrgicos selares pueden realizarse por vía transcraneal, transeptal y transnasal, y pueden generar hiposmia al incluir resecciones que afectan a la mucosa olfatoria. Objetivo: Determinar la existencia de alteración persistente en el olfato ocasionado por los accesos quirúrgicos transeptal y transnasal en pacientes operados por adenoma hipofisiario en el Instituto de Neurocirugía Dr. Asenjo. Material y Método: Estudio prospectivo de cohorte con comparación de resultados olfatorios ("sniffin' sticks" versión extendida) y encuesta SNOT-22 pre y poscirugía por adenoma hipofisiario por vía transeptal o transnasal. Se utilizaron medidas estadísticas de comparación de pruebas pareadas paramétricas y no paramétricas según las características de las variables evaluadas. Resultados: Se reclutaron 60 pacientes, completando el seguimiento 39. En 21 se realizó acceso transeptal y en 18 transnasal. Al analizar el total de pacientes y por cada técnica quirúrgica, no hubo diferencias significativas en los puntajes del "sniffin' sticks" versión extendida y tampoco en SNOT-22. Conclusión: La literatura describe incidencia de hiposmia posoperatoria muy variable, entre 0% y 88%, con mediciones subjetivas y objetivas. Existe una predilección por la técnica endoscópica a nivel internacional, por lo que cuenta con estudios de mejor calidad. A nivel nacional existen dos estudios previos que han encontrado tasas de hiposmia posoperatoria de 10% y 14%. En este estudio no hubo diferencias significativas en los puntajes obtenidos en la prueba de olfato entre el pre y posoperatorio.
Introduction: Olfaction is of great importance in quality of life. Surgical accesses to the sellar region can be performed by transcranial, transseptal, and transnasal routes, which can generate hyposmia when including resections that affect the olfactory mucosa. Aim: To determine the existence of persistent alteration in olfaction caused by transseptal and transnasal surgical accesses in patients operated for pituitary adenoma at the Instituto de Neurocirugía Dr. Asenjo. Material and Method: Prospective cohort study with comparison of olfactory results ("sniffin' sticks" extended version) and SNOT-22 survey pre and post transseptal or transnasal surgery for pituitary adenoma. Parametric and non-parametric paired test comparison statistics were used according to the characteristics of the variables evaluated. Results: 60 patients were recruited and 39 completed follow-up. 21 patients underwent transseptal access and 18 underwent transnasal access. When analyzing the total number of patients and for each surgical technique, there were no significant differences in the scores obtained in the "sniffin' sticks" extended version and neither for the SNOT-22. Conclusion: The literature describes a highly variable incidence of postoperative hyposmia, between 0% and 88%, with subjective and objective measurements. There is a predilection for the endoscopic technique at an international level, which is why it has better quality studies. At the national level there are two previous studies that have found postoperative hyposmia rates of 10% and 14%. In this study there were no significant differences in the scores obtained between pre and postoperative olfaction test.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Olfato/fisiologia , Adenoma/cirurgia , Cirurgia Endoscópica por Orifício Natural , Chile , Estudos Prospectivos , Percepção Olfatória , Transtornos do OlfatoRESUMO
PURPOSE: Screening modalities for Developmental Dysplasia of the Hip (DDH) and indications for treatment of mild forms remain controversial. Ultrasound (US) measurement of the pubofemoral distance (PFDâ¯>â¯6â¯mm, composed of the pubic cartilage and the pulvinar) can avoid late diagnoses of DDH. A thick pubic cartilage may nevertheless lead to false positives. The purpose of this study was to establish standard measurements of pubic cartilage and pulvinar, through universal US screening, to lower false positive results and thus any overtreatment. METHODS: This is a single-center observational prospective study conducted from December 2016 to January 2018, on infants who underwent universal US screening for DDH. The only inclusion criterion was an adjusted age between 4 and 12 weeks when US was realized. PFD measurement was made using the Couture and Tréguier method. In addition, thicknesses of pubic cartilage and pulvinar were measured on the same US section, in millimeters. RESULTS: Nine hundred and forty-eight patients, representing 1896 hips, were included. The average value of pubic cartilage thickness was 1.25â¯mm⯱â¯0.58â¯mm, with an upper threshold of 2.39â¯mm (+1.96σ). The average value of pulvinar thickness was 2.67â¯mm⯱â¯0.78â¯mm, with an upper threshold of 4.20â¯mm (+1.96σ). We found high inter-observer reproducibility in pubic cartilage measurements. CONCLUSION: Systematic measurements of pubic cartilage and pulvinar may refine therapeutic decision by identifying false positives. Patients with increased PFD due to a thick pubic cartilage >2,39â¯mm, without an associated pulvinar enlargement (<4,20â¯mm), could be therefore only monitored and not overtreated.
Assuntos
Displasia do Desenvolvimento do Quadril , Luxação Congênita de Quadril , Pulvinar , Cartilagem , Luxação Congênita de Quadril/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Estudos Prospectivos , Reprodutibilidade dos Testes , UltrassonografiaRESUMO
Resumen La traqueostomía es un procedimiento generador de aerosoles, lo que cobra particular importancia en la pandemia por SARS-CoV-2, causante de COVID-19, al tener un importante riesgo de contagio asociado si no implementamos adecuadamente las modificaciones necesarias para disminuir los aerosoles formados. A medida que el número de pacientes infectados aumente, también lo hará la necesidad de realizar traqueostomías, por lo que es fundamental estar preparados. Todos los ámbitos del procedimiento, desde la selección del paciente hasta el cuidado postoperatorio tienen modificaciones importantes para permitir realizar una cirugía y seguimiento seguro, tanto para el paciente como para los trabajadores de salud involucrados. En este artículo se realiza una revisión narrativa de la literatura disponible hasta mediados de abril de 2020 y se describen los principales cambios a considerar, tanto previo, durante y después de la cirugía de traqueostomía. Con respecto a la técnica quirúrgica, la decisión puede ser controversial entre una traqueostomía abierta y percutánea según las fuentes citadas, pero con las actuales modificaciones a ambas, se deberían considerar equivalentes en la cantidad de aerosoles generados, por lo que la elección debería estar basada en la experiencia local. Está desaconsejado innovar en una técnica con la que el cirujano esté poco familiarizado por el potencial riesgo de infección que significa para todas las personas involucradas en el procedimiento en este tipo de pacientes.
Abstract Tracheostomy is an aerosol-generating procedure, which is particularly important during the COVID-19 pandemic caused by SARS-CoV-2, since it presents a significant risk of infection if we do not properly implement the necessary modifications to decrease aerosolization. As the number of infected patients increases, so will the demand for performing tracheostomies, therefore being prepared is fundamental. Every aspect of the procedure, from patient selection to postoperative care have significant modifications to allow for a safe surgery and follow-up, both for the patient and the health workers involved. In this article, a literature review of the available information until mid-april is performed and the main changes to consider before, during and after the surgery are described. Regarding the surgical technique, there is no clear consensus between open and percutaneous tracheostomy depending on the sources cited, but with the current modifications to both, they should be considered equivalent in the aerosolization generated, therefore the decision should be based on the local experience. Innovating in a technique in which the physician is unfamiliar is discouraged due to the potential risk of infection for everyone involved in the procedure in this type of patients.
Assuntos
Humanos , Pneumonia Viral/cirurgia , Traqueostomia/métodos , Infecções por Coronavirus , Cuidados Pós-Operatórios , Aerossóis , Pandemias , BetacoronavirusRESUMO
RESUMEN La rinosinusitis bacteriana aguda es la infección de la mucosa nasal y de senos paranasales, que se manifiesta con congestión nasal, rinorrea purulenta y fiebre, de curso generalmente autolimitado. La trombosis del seno cavernoso (TSC) es una complicación poco frecuente, que se asocia a compromiso del seno esfenoidal y etmoidal, manifestándose clínicamente con cefalea, fiebre, alteración de pares craneanos y síntomas oculares. Ante su sospecha el estudio imagenológico es fundamental. En estos exámenes se debe buscar un defecto de llene en el seno cavernoso comprometido. El tratamiento debe iniciarse de forma precoz y contempla: antibioticoterapia, drenaje quirúrgico del seno afectado y anticoagulación. Se presenta a un paciente pediátrico masculino con TSC derecha posterior a una rinosinusitis esfenoidal no tratada, que respondió favorablemente al tratamiento. Se describe la clínica y manejo de esta patología, que presenta alta morbimortalidad, y que puede disminuirse considerablemente con un tratamiento precoz y agresivo.
ABSTRACT Acute bacterial rhinosinusitis is the infection of the nasal and paranasal mucous membrane, with symptoms such as nasal congestion, purulent rhinorrhea and fever, usually self-limiting. Cavernous sinus thrombosis (CST) is a rare complication, which is associated with sphenoid and ethmoid sinus involvement, clinically manifest with headache, fever, cranial nerve involvement and ocular symptoms. When suspected, imaging studies will confirm the clinical impression. They will show abnormal flow parameters in the compromised cavernous sinus. The treatment has to start as soon as possible and consists in broad spectrum intravenous antibiotics, surgical drainage of the site of the infection and anticoagulation. We present a patient with a right CST secondary to a non-treated sphenoidal sinusitis, that responded favorably to treatment. The clinical and management of this pathology is described, which presents a high morbidity and mortality that can be reduced considerably with an early and aggressive treatment.
Assuntos
Humanos , Masculino , Adolescente , Sinusite Esfenoidal/complicações , Trombose do Corpo Cavernoso/etiologia , Doenças dos Seios Paranasais , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Seio Cavernoso/diagnóstico por imagem , Trombose do Corpo Cavernoso/cirurgia , Trombose do Corpo Cavernoso/diagnóstico por imagemRESUMO
Myasthenia gravis (MG) is an autoimmune disease caused by antibodies targeting the neuromuscular junction of skeletal muscles. Triple-seronegative MG (tSN-MG, without detectable AChR, MuSK and LRP4 antibodies), which accounts for ~10% of MG patients, presents a serious gap in MG diagnosis and complicates differential diagnosis of similar disorders. Several AChR antibody positive patients (AChR-MG) also have antibodies against titin, usually detected by ELISA. We have developed a very sensitive radioimmunoprecipitation assay (RIPA) for titin antibodies, by which many previously negative samples were found positive, including several from tSN-MG patients. The validity of the RIPA results was confirmed by western blots. Using this RIPA we screened 667 MG sera from 13 countries; as expected, AChR-MG patients had the highest frequency of titin antibodies (40.9%), while MuSK-MG and LRP4-MG patients were positive in 14.6% and 16.4% respectively. Most importantly, 13.4% (50/372) of the tSN-MG patients were also titin antibody positive. None of the 121 healthy controls or the 90 myopathy patients, and only 3.6% (7/193) of other neurological disease patients were positive. We thus propose that the present titin antibody RIPA is a useful tool for serological MG diagnosis of tSN patients.
Assuntos
Autoanticorpos/sangue , Conectina/imunologia , Miastenia Gravis/sangue , Miastenia Gravis/diagnóstico , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Cooperação Internacional , Proteínas Relacionadas a Receptor de LDL/imunologia , Masculino , Miastenia Gravis/epidemiologia , Ensaio de Radioimunoprecipitação , Receptores Proteína Tirosina Quinases/imunologia , Receptores Colinérgicos/imunologiaRESUMO
Seronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of muscle specific kinase (MuSK) antibodies undetectable by radioimmunoassay. We tested 633 triple-seronegative MG patients' sera from 13 countries, detecting 13% as positive. MuSK antibodies were found, at significantly lower frequencies, in 1.9% of healthy controls and 5.1% of other neuroimmune disease patients, including multiple sclerosis and neuromyelitis optica. The clinical data of the newly diagnosed MuSK-MG patients are presented. 27% of ocular seronegative patients were MuSK antibody positive. Moreover, 23% had thymic hyperplasia suggesting that thymic abnormalities are more common than believed.
Assuntos
Autoanticorpos/sangue , Miastenia Gravis/sangue , Miastenia Gravis/diagnóstico , Receptores Proteína Tirosina Quinases/imunologia , Adulto , Idoso , Feminino , Citometria de Fluxo , Humanos , Cooperação Internacional , Proteínas Relacionadas a Receptor de LDL/imunologia , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/patologia , Neuromielite Óptica/diagnóstico , Radioimunoensaio , Receptores Colinérgicos/imunologia , Timo/patologia , Hiperplasia do Timo/diagnósticoRESUMO
Food fortification is the most effective and sustainable strategy to combat iron deficiency anemia (IDA). The objective of this was to evaluate the effectiveness of a precooked corn-based cereal (Nutricrema®) fortified with ferrous gluconate stabilized with glycine or ferrous bisglycinate chelate on iron status in of preschool children. A prospective, double-blind, cluster-randomized trial was conducted in a rural and indigenous area of Panama. During a six month period, 36 rural community soup-kitchens were divided into two groups randomly assigned to receive either: Group-A: 90 g of cereal with 10 mg of iron as ferrous gluconate stabilized with glycine; or Group-B (n=129): 90 g of cereal with 10 mg of iron as ferrous bisglycinate chelate. A total of 393 children aged 24 to 59 months of both sexes were recruited. Before and after the fortification trial iron status was evaluated. Two hundred and fifty-four children ended the follow-up (125 and 129 in groups A and B, respectively). Prevalence of IDA in group A was 29.6% and 26.4% (NS) before and after the trial, respectively; the corresponding figure for group B was 32.6% and 10.9% (p <0.05), respectively. In conclusion, the precooked corn-based cereal fortified with ferrous bisglycinate is effective in reducing the prevalence of IDA, while the cereal fortified with ferrous gluconate stabilized with glycine did not have a significant effect on the prevalence of IDA.
La fortificación de los alimentos es la estrategia más efectiva y sustentable para combatir la anemia por deficiencia de hierro (ADH). El objetivo de este estudio fue evaluar la efectividad de un alimento basado en maíz precocido (Nutricrema®) fortificado con gluconato ferroso estabilizado con glicina o bisglicinato ferroso sobre la nutrición de hierro de preescolares. Se realizó un estudio prospectivo aleatorizado por grupos, doble ciego, en un área rural indígena de Panamá. Treinta y seis comedores infantiles se asignaron aleatoriamente en dos grupos para que los niños recibieran, durante 6meses, 90 g de cereal fortificado con 10 mg de hierro como gluconato ferroso estabilizado con glicina (grupo comedores A) o con 10 mg como bisglicinato ferroso (grupo comedores B). Se reclutaron 393 niños de 24 a 59 meses de ambos sexos. Se evaluó la nutrición de hierro antes y después de la intervención. Doscientos cincuenta y cuatro niños finalizaron el estudio (125 y129 en los grupos A y B). La prevalencia de ADH en el grupo A fue 29,6% y 26,4% (NS) antes y después de la intervención; las prevalencias correspondientes en el grupo B fueron 32,6% y 10,9% (p <0,05). En conclusión, el cereal precocido basado en maíz fortificado con bisglicinato ferroso es efectivo en reducir la prevalencia de ADH, mientras el fortificado con gluconato ferroso estabilizado con glicina no tuvo un impacto significativo sobre la prevalencia de ADH.
Assuntos
Pré-Escolar , Alimentos Fortificados , Grão Comestível , Pré-Escolar , Estado Nutricional , Anemia Ferropriva , Suplementos Nutricionais , FerroRESUMO
Purines and more specifically adenosine monophosphate (AMP) and adenosine triphosphate (ATP) have a strong relaxant effect on smooth muscle cells of the dog, rabbit and human corpus cavernosum, to approximately the same degree as nitric oxide (NO). However, purines are considered as modulators of erectile function rather than key mediators. This suggests that the use of purines combined with NO donors could be effective to treat some specific erectile disorders. The relaxation induced by the combination of l-arginine (Arg), a natural substrate for NO synthase, was assessed with a purine-nucleotide (AMP, ATP) on a rabbit corpus cavernosum model, to determine if these substances could potentiate each other's effect. When a pre-contraction was induced by phenylephrine, AMP alone induced a 43% CC relaxation rate and ATP alone a 26% rate. The relaxation rate induced by Arg was lower in comparison (8% at 5.10(-4) m vs. 25% at AMP 5.10(-4) m and 15% at ATP 5.10(-4) m). NO synthase inhibitor n-nitro-l-arginine did not modify the relaxing effect provoked by AMP suggesting that the mechanism of action of this nucleotide does not involve the NO pathway. The combination of Arg at 5.10(-4) m with either AMP or ATP at different doses ranging from 5.10(-4) to 10(-3) m significantly enhanced the relaxing response reaching rates of 62 and 80% respectively, leading to a synergistic effect. The present data indicate that a 'NO donor' combined with an 'adenosine donor' could be an effective therapeutic approach.
Assuntos
Monofosfato de Adenosina/farmacologia , Trifosfato de Adenosina/farmacologia , Arginina/farmacologia , Pênis/efeitos dos fármacos , Animais , Técnicas In Vitro , Masculino , Relaxamento Muscular/efeitos dos fármacos , Pênis/fisiologia , CoelhosRESUMO
BACKGROUND: The detection and diagnosis of neuroendocrine tumors (NETs) is challenging. Endoscopic ultrasonography (EUS) has a significant role in the detection of NETs suspected from clinical manifestations or imaging techniques, as well as in their precise localization and cytological confirmation using EUS-Fine-needle aspiration-puncture (FNA). OBJECTIVE: To assess the usefulness and precision of EUS-FNAP in the differential diagnosis and confirmation of NETs, in a retrospective review of our experience. PATIENTS AND METHODS: in a total of 55 patients with suspected NETs who underwent radial or sectorial EUS, 42 tumors were detected in 40 cases. EUS-FNA using a 22G needle was performed for 16 cases with suspected functional (hormonal disorders: 6 cases) and non-functional NETs (10 cases). Ki 67 or immunocytochemistry (ICC) testing was performed for all.There was confirmation in 9 cases (5 female and 4 male) with a mean age of 51 years (range: 41-81 years).All tumors were located in the pancreas except for one in the mediastinum and one in the rectum, with a mean size of 19 mm (range: 10-40 mm). RESULTS: There were no complications attributable to FNA. Sensitivity was 100% and both precision and PPV were 89%, as a false positive result suggested a diagnosis with NET during cytology that surgery finally revealed to be a pancreatic pseudopapillary solid tumor. CONCLUSIONS: EUS-FNA with a 22G needle for NETs has high sensitivity and PPV at cytological confirmation with few complications.
Assuntos
Tumores Neuroendócrinos/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Biópsia por Agulha Fina , Sedação Consciente , Endossonografia , Feminino , Humanos , Imuno-Histoquímica , Antígeno Ki-67/análise , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/diagnóstico , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
INTRODUCTION: Carcinoid tumors (CTs) represent the most common type of neuroendocrine tumors (NETs). Digestive CTs in the gastroduodenal and colorectal tracts may be assessed using endoscopy and echoendoscopy or endoscopic ultrasonography (EUS) with the goal of attempting local resection with curative intent without having recourse to surgery. OBJECTIVE: Endpoints in this study included:--Assessing the usefulness of EUS for selecting CTs as candidates to endoscopic excision. --Assessing the effectiveness of local resection (complete carcinoid resection) and the safety (complications) of the technique involved. PATIENTS AND METHODS: OUr series included 18 patients (12 males and 6 females) with 23 tumors. Sixteen patients (10 males and 6 females) were selected, with age ranging from 40 to 81 years (mean: 57 years), biopsied, endoscopically treated digestive carcinoid tumors, and a previous negative extension study. Twenty-one 2-to-20-mm (mean size 8 mm) tumors were resected in 23 procedures. After endoscopy plus biopsy and echoendoscopy (EUS), excision was carried out with conventional polypectomy snare mucosectomy and submucosal injection with saline and/or adrenaline in most cases (15), and mucosectomy technique following lesion ligation with elastic bands for six cases. Two cases underwent transanal endoscopic surgery (TEM), one of them following non-curative polypectomy. A total of 23 local procedures were performed with the key goal of assessing efficacy (complete resection: CR) and safety (complications). RESULTS: There were no severe complications except for the last gastric mucosectomy for a 6-mm carcinoid, where a miniperforation occurred that was solved by using 3 clips (1/23: 4.3%).EUS sensitivity was 94%. Complete resection was 90.5% (19/21). CONCLUSIONS: The endoscopic mucosal resection of selected carcinoid tumors is a safe, effective technique. EUS is the technique of choice to select patients eligible for endoscopic resection (carcinoids smaller than 20 mm in superficial layers, with an unscathed muscularis propria and negative extension study).
Assuntos
Tumor Carcinoide/diagnóstico por imagem , Tumor Carcinoide/cirurgia , Neoplasias do Sistema Digestório/diagnóstico por imagem , Neoplasias do Sistema Digestório/cirurgia , Endoscopia/métodos , Endossonografia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Feminino , Humanos , Pólipos Intestinais/cirurgia , Masculino , Pessoa de Meia-Idade , Seleção de PacientesRESUMO
STUDY DESIGN: Two validation studies. OBJECTIVES: To assess the measurement properties of the short version of the Van Lieshout test (VLT-SV), a new test for arm/hand function of persons with tetraplegia after spinal cord injury (SCI). SETTING: Two specialized rehabilitation centres in The Netherlands. METHODS: Study 1 (N=12)--assessment of inter-rater reliability (intraclass correlations (ICC); weighted kappa; Bland-Altman plots). Study 2 (N=55)--assessment of convergent validity by computing Spearman's correlations with the Grasp-Release test (GRT; criterion standard) and with motor level of injury, ASIA impairment scale, international classification for surgery of the hand, and the self-care and transfer scales of the functional independence measure. All statistics were computed separately for the right- and the left-hand scores. RESULTS: Inter-rater reliability was excellent (ICC 0.98 and 0.99). Agreement was independent of the height of the scores and the limits of agreement were +/-0.5 points on a 0-5 scale. Convergent validity was very good with a Spearman correlation of 0.87 and 0.90 between the VLT-SV and the GRT and correlations between 0.35 and 0.85 with the other indicators of arm/hand function. CONCLUSION: The VLT-SV seems a reliable and valid test to assess arm/hand function of persons with tetraplegia after SCI.
Assuntos
Braço/fisiopatologia , Avaliação da Deficiência , Mãos/fisiopatologia , Quadriplegia/fisiopatologia , Traumatismos da Medula Espinal/fisiopatologia , Atividades Cotidianas , Adulto , Feminino , Força da Mão , Humanos , Masculino , Quadriplegia/reabilitação , Reprodutibilidade dos Testes , Estatísticas não ParamétricasRESUMO
Two men, aged 24 and 52 years, developed neurogenic heterotopic ossifications of the hip, the first following a cervical spinal-cord injury and the second after prolonged artificial ventilation following bowel surgery. The stiffness caused problems when sitting and when performing general daily activities; the second patient who was ambulatory, also had problems walking. CT investigation clearly showed the localisation of the ossifications. After surgical removal of the ossifications both patients were able to sit for longer periods without low-back pain and the ambulatory function of the second patient was much improved. Indomethacin was given postoperatively and no recurrence of the ossification was seen. A number of per- and postoperative complications are associated with the surgical removal of neurogenic heterotopic ossifications of the hip. These include damage to surrounding structures and infection. However taking into account the improved range of movement and increased independence of the patient, it is a useful intervention for this debilitating condition.
Assuntos
Articulação do Quadril/cirurgia , Ossificação Heterotópica/cirurgia , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Qualidade de Vida , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Prevenção SecundáriaRESUMO
INTRODUCTION: Cerebral venous thrombosis (CVT) is an infrequent process in systemic lupus erythematosus. We report the case of a female patient whose initial manifestation of lupus was a CVT. CASE REPORT: A 30-year-old female who presented headaches and diminished visual acuity; on exploring the patient bilateral papilloedema was found. Magnetic resonance imaging revealed the presence of a venous thrombosis in the superior and transversal longitudinal sinus. Complementary explorations showed high levels of antinuclear antibodies with leukopenia and proteinuria. Antiphospholipid antibodies were negative. Following treatment with anticoagulants, the patient's condition improved both clinically and radiologically. Months later a biopsy was performed and revealed a grade IV diffuse glomerulonephritis. CONCLUSIONS: In systemic lupus erythematosus, phenomena such as CVT can be the initial form of presentation of the disease. The presence of antiphospholipid antibodies plays a partial role in CVT; other phenomena, such as inflammatory processes, should also be taken into account.
Assuntos
Trombose Intracraniana/patologia , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/patologia , Trombose Venosa/patologia , Adulto , Anticorpos Antinucleares/sangue , Anticoagulantes/uso terapêutico , Feminino , Humanos , Trombose Intracraniana/tratamento farmacológico , Trombose Intracraniana/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Angiografia por Ressonância Magnética , Resultado do Tratamento , Trombose Venosa/tratamento farmacológico , Trombose Venosa/etiologiaRESUMO
Alterations in the retinoblastoma gene (RB-1) are common in human neoplasia. The frequency of loss of heterozygosity (LOH) at the RB-1 locus on chromosome 13q14 was studied in a series of 51 epithelial ovarian tumors (10 benign, 7 borderline, and 34 malignant). LOH was scored by the absence or reduction of the signal to < 50% of one of the alleles in tumor DNA compared with normal DNA. LOH results were correlated with retinoblastoma protein (pRB) immunostaining. LOH at the RB-1 locus was observed in 9 tumors (17.6%), specifically in 1 of 7 borderline tumors and 8 of 34 ovarian carcinomas (23.5%). Among the malignant tumors, LOH occurred more frequently in carcinomas with serous differentiation (7/23; 30%). A heterogeneous (10% to 70% cells) or diffuse (> 70% cells) pRB immunostaining was less frequent in benign (1/10; 10%) and borderline (2/7; 28%) tumors than in ovarian carcinomas (15/34; 44%), an observation that correlated with the higher proliferative index in carcinomas than in benign and borderline tumors. However, lack or only focal (< 10% cells) pRB immunostaining occurred in the vast majority of tumors with LOH at the RB-1 locus (7/9; 77%), a finding that may suggest a tumor suppressor role for RB-1 in these tumors. The results suggest that RB-1 may play a role in a subset of ovarian carcinomas, particularly those exhibiting serous differentiation.
Assuntos
Carcinoma/genética , Perda de Heterozigosidade , Neoplasias Ovarianas/genética , Proteína do Retinoblastoma/genética , Adenocarcinoma de Células Claras/genética , Adenocarcinoma de Células Claras/patologia , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patologia , Carcinoma/química , Carcinoma/patologia , Carcinoma Endometrioide/genética , Carcinoma Endometrioide/patologia , Cromossomos Humanos Par 13 , Cistadenocarcinoma/genética , Cistadenocarcinoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Ovarianas/química , Neoplasias Ovarianas/patologia , Proteína do Retinoblastoma/análiseRESUMO
Four different genetic abnormalities may occur in endometrioid adenocarcinomas of the endometrium (mircosatellite instability and mutations in the PTEN, k-RAS and beta-catenin genes), whereas nonendometrioid carcinomas of the endometrium often have p53 mutations and loss of heterozygosity on several chromosomes. Occasionally, a nonendometrioid carcinoma may develop as a result of dedifferentiation of a preexisting endometrioid carcinoma; in such a case, the tumor exhibits overlapping clinical, morphologic, immunohistochemical, and molecular features of the 2 types. The insaturation of microsatellite instability in endometrial carcinogenesis seems to occur late in the transition from complex hyperplasia to carcinoma, and it is preceded by progressive inactivation of MLH-1 by promoter hypermethylation. Moreover, the endometrioid adenocarcinomas that exhibit microsatellite instability show a stepwise progressive accumulation of secondary mutations in oncogenes and tumor suppressor genes that contain short-tandem repeats in their coding sequences. Mutations in the PTEN and k-RAS genes are also frequent in endometrioid adenocarcinomas of the endometrium, particularly in the tumors that exhibit microsatellite instability, whereas beta-catenin mutations do not seem to be associated with such a phenomenon.
Assuntos
Hiperplasia Endometrial/genética , Neoplasias do Endométrio/genética , Transativadores , Proteínas Supressoras de Tumor , Proteínas do Citoesqueleto/genética , Metilação de DNA , Feminino , Genes p53/genética , Genes ras/genética , Humanos , Repetições de Microssatélites/genética , Mutação , PTEN Fosfo-Hidrolase , Monoéster Fosfórico Hidrolases/genética , beta CateninaRESUMO
BACKGROUND: Because myocardial damage determines morbidity and outcomes in heart transplant rejection, assessment of total burden of myocardial damage is highly desirable. In addition to myocyte necrosis, programmed cell death, or apoptosis, has recently been shown to contribute to cardiac allograft rejection. In the present study, we noninvasively determined myocardial damage by antimyosin scintigraphy and compared it with necrotic and apoptotic myocardial damage in endomyocardial biopsy (EMB) specimens. METHODS AND RESULTS: Forty scintigraphic and histologic studies were simultaneously performed. Of these, 19 patients had no EMB evidence of allograft rejection (group I, International Society of Heart and Lung Transplantation [ISHLT] grade 0/4), 12 had mild rejection (group II, ISHLT grades 1A and 1B), and 9 had evidence of moderate allograft rejection (group III, ISHLT grades 2, 3A, and 3B). None of the biopsies demonstrated severe allograft rejection (ISHLT grade 4/4). The severity of global myocyte damage in 40 patients was assessed by antimyosin scintigraphy. Endomyocardial biopsies were performed in these patients within 48 hours of imaging study; biopsy specimens were characterized for presence of myocyte necrosis and apoptosis. Evidence of myocyte necrosis was observed in 9 (23%) of 40 EMB specimens. Nineteen EMB specimens of group I had no inflammation and no myocyte necrosis, 12 of group II specimens showed interstitial mononuclear cell infiltration (only) but no myocyte necrosis, and all 9 of group III specimens had evidence of cellular infiltration and myocyte damage. Myocyte necrosis was assessed by hematoxylin-eosin and trichrome staining of EMB specimens. On the other hand, apoptosis of myocytes, as assessed by TUNEL staining of DNA fragments, was seen in 22 (55%) of the 40 biopsy specimens: 47%, 58%, and 67% in groups I, II and III, respectively. Abnormal antimyosin scan findings, indicating presence of myocardial damage, were observed in 9 of the 19 patients in group I and in all patients in groups II and III. Although positive antimyosin scan results in group III patients are concordant with the presence of histologic myocardial necrosis, myocardial uptake of antimyosin antibodies in groups I and II (no apparent myocyte damage at light microscopic examination) could reflect either sampling error of the biopsy or ongoing apoptotic myocyte damage. CONCLUSIONS: Apoptosis of myocytes is frequently observed during cardiac allograft rejection. The presence of apoptotic myocytes in the absence of histologic rejection activity in patients with antimyosin uptake suggests that apoptosis could be an additional mechanism of transplant-associated myocardial damage.
Assuntos
Apoptose , Rejeição de Enxerto , Transplante de Coração , Coração/diagnóstico por imagem , Miocárdio/patologia , Adulto , Idoso , Anticorpos Monoclonais/farmacocinética , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miosinas/imunologia , Necrose , Cintilografia , Transplante HomólogoRESUMO
BACKGROUND AND OBJECTIVE: Interferon-a (IFN) is increasingly being used as the drug of choice in chronic myeloid leukemia patients. The main objectives of the study were to study the influence of the classic prognostic variables and response to IFN, and to assess the influence of this response on the course of the disease and survival. DESIGN AND METHODS: Single arm, prospective, multicenter study, without a control group. Only Ph1-positive CML patients were included. The treatment scheme was biphasic: the patients first received standard chemotherapy and thereafter IFN-a2a was used as monotherapy, with a target dose of 9 MU/d/s.c. RESULTS: Twenty-one centers in Spain enrolled 132 patients (72 men, 60 women). The median dose of IFN given was 5.8 MU/d, and the median treatment duration was 431 days (range: 18-2,597). Seventy-two percent of patients obtained a hematologic response in the first six months of IFN treatment. Genetic response was obtained in 47% of the patients, and the response was major or complete in 27% and 19%, respectively. The median time to obtain this response was 7, 9, and 18 months for minimal, partial and complete genetic response, respectively. Multivariant analysis showed that only a higher percentage of basophils at diagnosis was associated with a worse hematologic response at six months (p=0.001) (OR: 1.23) and with a worse cytogenetic response in the first year of IFN therapy (p=0.018) (OR: 1.4). Over an observation period of 8 years, 35.6% of the patients died, and 85 (64.4%) remained alive. With a median follow-up of 42 months (3.7-98), the 6-year projected probabilities of survival and transformation-free survival were 0.61+/-0.07 vs. 0.54+/-0.07, respectively. Patients with Kantarjian's stage 3 disease or in a high-risk Sokal group had lower probabilities of survival, but these systems did not adequately discriminate in our series. Obtaining a complete hematologic response in the first six months of IFN therapy was favorable in terms of overall survival (p=0.05; HR=0.33). Cox's analysis demonstrated that obtaining a cytogenetic response in the first year was independently associated with better overall survival (p=0.04; HR=0.19) and better transformation-free survival (p=0.0035; HR=0.11). INTERPRETATION AND CONCLUSIONS: Nearly half of the patients obtained some degree of Philadelphia suppression, which was major in 27%, and complete in 19%. A higher percentage of basophils at diagnosis was the only variable associated with a lower probability of cytogenetic response. Obtaining a cytogenetic response during the first year of IFN treatment was a favorable and independent variable in terms of survival and transformation-free survival. Obtaining a major cytogenetic response during this period decreased the risk of transformation twenty times. Our results suggest that the effect of IFN on survival is independent of the classic prognostic variables.
Assuntos
Basófilos/patologia , Interferon-alfa/administração & dosagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mieloide de Fase Crônica/tratamento farmacológico , Adolescente , Adulto , Idoso , Criança , Análise Citogenética , Feminino , Testes Hematológicos , Humanos , Interferon alfa-2 , Interferon-alfa/toxicidade , Contagem de Leucócitos , Masculino , Pessoa de Meia-Idade , Cromossomo Filadélfia , Prognóstico , Proteínas Recombinantes , Espanha/epidemiologia , Taxa de Sobrevida , Trombocitopenia/induzido quimicamente , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: In present study we have studied MLL rearrangements in a serie of acute myeloid, lymphoblastic and biphenotypic leukaemias. PATIENTS AND METHODS: We analyzed a total of 11 cases: 9 acute myeloid leukaemias (M4 and M5 subtypes in FAB classification), 1 lymphoid leukaemia, and 1 acute biphenotypic leukaemia. We studied bone marrow samples from all patients by using conventional cytogenetic techniques and fluorescence in situ hybridization (FISH) with an MLL probe. We also analyzed the correlation between clinical features and genetic results. RESULTS: Cells from 6 patients showed to contain MLL rearrangements and these arose in all types of leukaemias included in this study. Some MLL rearrangements were detected by FISH in kariotypically normal cases or without cytogenetic evidence of 11q23 aberration. MLL gene duplication has been observed in two cases with M4 and biphenotypic leukaemia, respectively. The presence of MLL gene rearrangements does not shape a group of patients with a common clinical pattern. CONCLUSIONS: MLL rearrangements occurs in a wide variety of leukemias. These rearrangements should be screened by FISH techniques, taking into account that gene duplications could arise in cases with normal karyotype. MLL rearrangements appear to have a considerable clinicopathologic heterogeneity.