RESUMEN
Assessing cognitive abilities in children is challenging for two primary reasons: lack of testing engagement can lead to low testing sensitivity and inherent performance variability. Here we sought to explore whether an engaging, adaptive digital cognitive platform built to look and feel like a video game would reliably measure attention-based abilities in children with and without neurodevelopmental disabilities related to a known genetic condition, 16p11.2 deletion. We assessed 20 children with 16p11.2 deletion, a genetic variation implicated in attention deficit/hyperactivity disorder and autism, as well as 16 siblings without the deletion and 75 neurotypical age-matched children. Deletion carriers showed significantly slower response times and greater response variability when compared with all non-carriers; by comparison, traditional non-adaptive selective attention assessments were unable to discriminate group differences. This phenotypic characterization highlights the potential power of administering tools that integrate adaptive psychophysical mechanics into video-game-style mechanics to achieve robust, reliable measurements.
Asunto(s)
Trastorno Autístico/psicología , Trastornos de los Cromosomas/psicología , Cognición , Discapacidad Intelectual/psicología , Juegos de Video , Adolescente , Atención , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/psicología , Estudios de Casos y Controles , Niño , Deleción Cromosómica , Cromosomas Humanos Par 16 , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Proyectos Piloto , HermanosRESUMEN
BACKGROUND: The lung is the most common site for metastatic carcinomas. Very few studies have comprehensively analyzed all pulmonary resections for metastatic carcinomas. AIMS AND OBJECTIVES: To analyze all lung resections for suspected metastatic carcinomas accrued over 10 years to evaluate: (i). The most frequent primary site,(ii). The interval between primary tumor diagnosis and lung metastases, and (iii). The proportion of inadvertently resected benign lesions, clinicoradiologically mistaken for metastatic deposits. MATERIALS AND METHODS: Between 2002 and 2011, 88 pulmonary metastasectomies were done for suspected metastatic carcinomas, which form the basis of this study. RESULTS: In 81 of 88 cases (92%) the diagnosis of metastatic carcinoma was histologically confirmed, whereas 7 cases (8%) were non-neoplastic. The mean interval between primary tumor and metastases was 2.5 years. The primary sites were colorectum (30; 37%), kidney and breast (14; 17.3% each), cervix (9; 10%), salivary gland carcinoma (3), thyroid carcinoma (2), squamous carcinoma (2, one each of mandible and larynx), papillary urothelial carcinoma (2), hepatocellular carcinoma (1), endometrioid adenocarcinoma (1), carcinosarcoma of endometrium (1), adrenocortical carcinoma (1), and neuroendocrine carcinoma (1). The 7 non-neoplastic lesions (8%) histologically revealed tuberculosis (4), bronchopneumonia (2), and aspergillosis (1). CONCLUSIONS: Almost three fourths (71.6%) of the metastatic pulmonary resections comprised primaries from colorectum, breast and kidney. The interval between primary tumor and metastases ranged from zero months to 10 years (mean 2.5 years). Tuberculosis was the most common histologic diagnosis among the 8% of the non-neoplastic lesions, which were mistaken for metastatic carcinoma on clinical evaluation.
Asunto(s)
Adenocarcinoma/cirugía , Carcinoma de Células Pequeñas/cirugía , Neoplasias Pulmonares/cirugía , Neoplasias/cirugía , Adenocarcinoma/patología , Adenocarcinoma/secundario , Adulto , Anciano , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Pequeñas/secundario , Femenino , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/secundario , Masculino , Persona de Mediana Edad , Neoplasias/clasificación , Neoplasias/patología , Análisis de SupervivenciaRESUMEN
BACKGROUND: An in-frame fusion protein between echinoderm microtubule-associated protein-like 4 (EML4) and anaplastic large cell kinase (ALK) genes is seen in some non-small cell lung cancer (NSCLC). EML4-ALK demonstrates constitutive kinase activity. These ALK-positive lung carcinomas have been shown to respond to ALK kinase inhibitors. ALK gene rearrangement is commonly detected using fluorescent in situ hybridization (FISH). AIMS: To study the pathological features of ALK positive and negative NSCLC and evaluate the causes of uninterpretable FISH results. MATERIALS AND METHODS: This is a retrospective, observational study. The molecular pathology records of patients on whom test for ALK had been performed in a period of 1 year (February 2012 to February 2013) were accessioned. A total 224 cases were identified. Histological features were reviewed. The in situ hybridization was performed using Vysis ALK Dual Color Break Apart Rearrangement Probe (Abbott Molecular Inc.). Signal interpretation under the fluorescent microscope was performed in accordance with College of American Pathologists guidelines. RESULTS: Five patients showed ALK gene rearrangement, 182 were negative and 37 cases were uninterpretable. Five patients with ALK gene rearrangement had a mean age of 48 years and the male to female ratio was 2:3. In the ALK negative cases, the mean age was 54 years and male to female ratio was 3.2:1. Histologically, amongst the rearranged cases, three showed solid pattern, one showed acinar and one showed acinar with signet ring cells on histology. CONCLUSION: The percentage of ALK gene rearrangement was 2.7% (excluding the uninterpretable cases). These ALK positive patients were relatively younger than ALK negative patients. Solid pattern on histology was associated with ALK positivity. In a quarter of the uninterpretable results, the material submitted was fixed and processed outside.
Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/genética , Proteínas de Fusión Oncogénica/genética , Inhibidores de Proteínas Quinasas/administración & dosificación , Adulto , Anciano , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Carcinoma de Pulmón de Células no Pequeñas/patología , Femenino , Reordenamiento Génico , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Proteínas de Fusión Oncogénica/aislamiento & purificación , Medicina de Precisión , Estudios RetrospectivosRESUMEN
BACKGROUND: Metastasis of soft tissue sarcoma most commonly occurs to the lungs. There are very few studies on histology of pulmonary metastatectomy and hardly any wherein the histology of the primary tumor has been compared with the metastasis. AIMS AND OBJECTIVES: To review histologically all metastatic sarcomas to lung and compare with the primary where available. MATERIALS AND METHODS: Ninety-five patients with pulmonary metastases from sarcoma were analyzed histologically for type of sarcoma, chemotherapy-related changes, and changes in adjacent lung. Various clinical parameters like laterality, multiplicity, and interval between primary and metastasis were also studied. RESULTS: Osteosarcoma constituted half of the metastatic sarcomas (48 cases, 50.5%) followed by synovial sarcoma (16 cases, 16.8%) and high grade spindle cell sarcoma-NOS (10 cases, 10.5%). The histology of primary and the metastases was similar in 60% of cases of osteosarcoma. CONCLUSIONS: Osteosarcoma is the commonest metastatic sarcoma to the lung. There is often a change to fibroblastic histology in patients of conventional osteosarcoma treated with chemotherapy.
Asunto(s)
Neoplasias Óseas/patología , Neoplasias Pulmonares/secundario , Osteosarcoma/secundario , Sarcoma Sinovial/secundario , Sarcoma/secundario , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Adulto JovenRESUMEN
Development and characterization of one-dimentional (1D) position sensitive detectors (PSDs) with improved efficiency and position resolution for neutron scattering applications are reported. The PSDs are characterized for energy resolution, count rate capability, sensitivity, efficiency, position resolution, and uniformity of response over the sensitive length. The studies are carried out to verify the dependence of position resolution on detector geometry, electronic noise, and stopping power of the fill gas. One of the PSDs is mounted on the small angle neutron scattering spectrometer and spectra from CTAB micelle sample are recorded using 5.4 A neutrons. A gain of factors 1.1 and 1.2 is obtained compared to earlier in house made 1D PSD and LND-made 1D PSD, respectively. The diffraction patterns from standard vanadium, nickel, and silicon samples are recorded on a powder diffractometer using newly designed PSDs. Gain in efficiency obtained at shorter wavelength of 0.783 A is by a factor of 1.6. All high pressure PSDs show improvement in the position resolution by 2-3 mm. It is observed that 1D PSD filled with isobutane as stopping gas improves the gamma tolerance and position resolution at lower partial pressures as compared to Kr. It is advantageous to use two or more 36C-type PSDs stacked together. It is economic and gives better efficiency due to scanning more beam height.
RESUMEN
Adult-onset Still's disease (AOSD) is a multi-system inflammatory disorder characterized by high spiking fevers, evanescent salmon-coloured rash, arthralgias or arthritis, hepatosplenomegaly, lymphadenopathy and sore throat. There is no specific test or combination of tests that can establish the diagnosis of AOSD and patients may present with other systemic involvement including neurological manifestations in 7-12% of cases. We present a complex case of a patient with AOSD who developed the Miller-Fisher variant of Guillain-Barré syndrome. This immunological disorder of the nervous system has not been described in association with AOSD before. We also review the literature on other neurological manifestations in AOSD. AOSD mimics different disease processes and its multi-system manifestations may complicate the picture further.
Asunto(s)
Síndrome de Miller Fisher/complicaciones , Enfermedad de Still del Adulto/complicaciones , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Síndrome de Miller Fisher/diagnóstico , Enfermedad de Still del Adulto/diagnósticoAsunto(s)
Ampolla Hepatopancreática/patología , Tumor Carcinoide/diagnóstico , Neoplasias del Conducto Colédoco/diagnóstico , Trasplante de Corazón , Adulto , Carcinoma de Células Escamosas/diagnóstico , Humanos , Inmunosupresores/efectos adversos , Masculino , Neoplasias de la Boca/diagnóstico , Neoplasias Primarias Secundarias/diagnósticoRESUMEN
The skeletal and soft tissue features, aberrations in dental development, and periodontal and caries characteristics of Down syndrome related to orthodontic treatment are discussed. A case report describing the successful orthodontic treatment of a 13-year-old boy with Down syndrome and a severe malocclusion is presented.
Asunto(s)
Síndrome de Down/complicaciones , Maloclusión Clase II de Angle/terapia , Adolescente , Anodoncia/etiología , Diente Premolar/patología , Diente Canino/patología , Síndrome de Down/patología , Cara , Huesos Faciales/patología , Humanos , Incisivo/anomalías , Masculino , Planificación de Atención al Paciente , Erupción Ectópica de Dientes/etiologíaRESUMEN
Rats injected with a single, 50-mg dose of bromoethylamine (BEA) developed papillary necrosis accompanied by sever interstitial fibrosis. At 1 mo, the creatinine clearance decreased (control 0.66 versus BEA 0.33 ml/min per 100 g body wt, P = 0.02), and the urine albumin-to-creatinine ratio increased markedly (control 0.19 versus BEA 0.51, P = 0.02). In a group of animals given the angiotensin-converting enzyme inhibitor enalapril (Enal; 100 mg/L) in their drinking water for 4 wk, beginning 1 wk before BEA injection, creatinine clearance improved significantly (BEA 0.33 versus Enal + BEA 0.52 ml/min per 100 g body wt, P = 0.01) and albumin excretion fell to zero. Histologic examination revealed an 88% decrease in the area of papillary necrosis and a decrease in the degree of interstitial fibrosis in the corticomedullary junction. To determine whether this was due to changes in urine flow rate induced by enalapril, a group of animals was injected with BEA, and enalapril at the above dose was begun 1 wk later. After 1 mo, the enalapril-treated animals showed the same improvement in creatinine clearance (BEA 0.33 versus BEA + Enal 0.50 ml/min per 100 g body wt, P = 0.03) and suppression of albumin excretion. The area of papillary necrosis was reduced by 67%. In the BEA animals treated with enalapril, ED-1-positive cells, alpha-smooth muscle actin, and transforming growth factor-beta1 were decreased compared with BEA alone. It is concluded that in this model of papillary necrosis, enalapril protects renal function and decreases interstitial fibrosis mediated at least in part through an angiotensin II/bradykinin-dependent mechanism.
Asunto(s)
Inhibidores de la Enzima Convertidora de Angiotensina/farmacología , Enalapril/farmacología , Enfermedades Renales/patología , Necrosis Papilar Renal/patología , Riñón/patología , Albuminuria , Animales , Creatinina/sangre , Creatinina/orina , Etilaminas , Fibrosis , Tasa de Filtración Glomerular/efectos de los fármacos , Enfermedades Renales/inducido químicamente , Enfermedades Renales/fisiopatología , Necrosis Papilar Renal/inducido químicamente , Necrosis Papilar Renal/fisiopatología , Masculino , Ratas , Ratas Sprague-DawleyRESUMEN
This review of the literature on Down syndrome focuses on various systemic anomalies and oral anomalies, its clinical manifestations, and recommendations for persons with Down syndrome. From the time Down syndrome was diagnosed by phenotype to the present when karyotyping distinguishes chromosomal subgroups, increasingly sophisticated tests and treatments have influenced the lives of Down syndrome patients. Medical advances, special educational programs, and increasing social acceptance of disabled people in the community have resulted in current trends of normalization and deinstitutionalization of these patients. Once a dentist is familiar with a patient's medical history and takes needed precautions, these patients can be treated routinely in a dental office.
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Síndrome de Down/patología , Anomalías Múltiples/patología , Desinstitucionalización , Atención Dental para la Persona con Discapacidad , Personas con Discapacidad , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Síndrome de Down/rehabilitación , Síndrome de Down/terapia , Educación Especial , Humanos , Cariotipificación , Anomalías de la Boca/patología , Enfermedades de la Boca/terapia , Fenotipo , Deseabilidad Social , Anomalías Dentarias/patología , Enfermedades Dentales/terapiaRESUMEN
We report on the results of a study using high molecular weight dextran for depletion of red blood cells (RBCs) from cord blood. Our technique achieved efficient RBC depletion by sedimentation without a significant loss in haemopoietic stem cells. Cord blood units were fractionated for erythrocyte depletion by unit gravity sedimentation in 3 per cent high molecular weight dextran. Dextran sedimentation enabled recovery of more than 80 per cent of the total nucleated cells present and 100 per cent mononuclear cell (MNC) recovery as compared to unfractionated cord blood. A four-fold increase in the colony forming unit-granulocyte macrophage (CFU-GM) number per 2 x 10(5) cells was observed after dextran treatment suggesting that this step also resulted in the enrichment of stem cells.
Asunto(s)
Eliminación de Componentes Sanguíneos/métodos , Dextranos , Eritrocitos/citología , Sangre Fetal , Sedimentación Sanguínea , Ensayo de Unidades Formadoras de Colonias , Factor Estimulante de Colonias de Granulocitos y Macrófagos , Células Madre Hematopoyéticas/citología , Humanos , Recién NacidoRESUMEN
One hundred patients suffering from oral submucous fibrosis (OSF), oral leukoplakia (OL) and oral lichen planus (OLP) were studied for the cytogenetic damage in oral mucosal cells and in circulating lymphocytes along with their habit patterns. It was observed that OSF was largely associated with betel nut containing masticants while OL was associated with chewing or smoking habit. It was further observed that their exfoliated oral mucosal cells had significantly higher numbers of micronucleated (Mn) cells as compared to these of healthy normal subjects without any chewing or smoking habit. Similar cytogenetic damage in the form of increased sister chromatid exchanges (SCE) was observed in circulating lymphocytes indicating that the carcinogenic agents produce damage not only in target tissue but also in other host cells such as circulating lymphocytes.
Asunto(s)
Liquen Plano/patología , Neoplasias de la Boca/patología , Lesiones Precancerosas/patología , Adolescente , Adulto , Areca , Daño del ADN , Femenino , Fibrosis/epidemiología , Fibrosis/patología , Humanos , India/epidemiología , Leucoplasia Bucal/epidemiología , Leucoplasia Bucal/patología , Liquen Plano/epidemiología , Linfocitos/patología , Masculino , Pruebas de Micronúcleos , Persona de Mediana Edad , Enfermedades de la Boca/epidemiología , Enfermedades de la Boca/patología , Mucosa Bucal/patología , Neoplasias de la Boca/epidemiología , Plantas Medicinales , Lesiones Precancerosas/epidemiologíaRESUMEN
The popularity of treatment of carpal tunnel syndrome has resulted in a significant number of complications. A rational plan of therapy is available for each category of complications of carpal tunnel syndrome. This article presents 14 of the most frequently encountered complications of treatment. Prevention and management of these complications are discussed.
Asunto(s)
Síndrome del Túnel Carpiano/cirugía , Endoscopía/efectos adversos , Complicaciones Posoperatorias , Corticoesteroides/efectos adversos , Síndrome del Túnel Carpiano/diagnóstico , Síndrome del Túnel Carpiano/terapia , Errores Diagnósticos , Humanos , Inyecciones IntraarticularesRESUMEN
The microenvironment in the haematopoietic organs plays an important role in regulating and sustaining differentiation and self-renewal of haematopoietic stem cells. Although crucial for stem cell maintenance and homing, the stromal cell-stem cell interactions are poorly understood. Here we show that an ICAM-like molecule is responsible for stem cell adhesion to stromal cells in vitro. The molecule was characterized by a monoclonal antibody 3E10. Immunoblotting results indicated that the molecule had an electrophoretic mobility equal to that of intercellular cell adhesion molecule-1 (ICAM-1). Binding inhibition assays, however, showed that inhibition of binding of enriched CD34 cells by 3E10 was more prominent in comparison with that of ICAM-1.
Asunto(s)
Antígenos CD34/análisis , Células de la Médula Ósea , Células Madre Hematopoyéticas/citología , Molécula 1 de Adhesión Intercelular/fisiología , Anticuerpos Monoclonales , Adhesión Celular/fisiología , Células Cultivadas/química , Células Cultivadas/citología , Medios de Cultivo , Citometría de Flujo , Células Madre Hematopoyéticas/inmunología , Humanos , Immunoblotting , Molécula 1 de Adhesión Intercelular/análisis , Molécula 1 de Adhesión Intercelular/inmunología , Células del Estroma/química , Células del Estroma/citologíaRESUMEN
Single stage transfer using a compound vascularized flap is sometimes necessary for severe dorsal defects. The use of vascularized tendon grafts in conjunction with the radial artery forearm flap and the dorsalis pedis flap is described.
Asunto(s)
Mano/cirugía , Tendones/cirugía , Fascia Lata/trasplante , Peroné/cirugía , Antebrazo , Humanos , Microcirugia/métodos , Músculo Esquelético/trasplante , Ortopedia/métodos , Arteria Radial , Trasplante de Piel , Colgajos Quirúrgicos , Tendones/irrigación sanguínea , Tendones/trasplanteRESUMEN
In this paper we have used a monoclonal antibody to CD34 an antigen expressed solely on stem cells, and stem cell colony assays to show that umbilical cord blood has nearly the same number of functional stem cells as compared to normal bone-marrow. The number of CD34+ve cells in cord blood being 2 to 2.7 per cent, whereas bone-marrow had 3 to 3.5 per cent. The multi-potent colony forming cells (CFU-GEMM) were 60 +/- 18 in cord blood per 2 x 10(5) mononuclear cells (MNCs), whereas normal bone-marrow had 70 +/- 10 per 2 x 10(5) MNCs. Enrichment of these stem cells on Percoll gradients was successful for normal bone-marrow but not for cord blood.
Asunto(s)
Antígenos CD/sangre , Sangre Fetal/inmunología , Células Madre Hematopoyéticas/inmunología , Antígenos CD34 , Sangre Fetal/citología , Humanos , Recién NacidoRESUMEN
MRI was performed at three centres in Bombay on 24 patients clinically suspected of tuberculosis of the spine but with normal radiographs. There were 11 males and 13 females and their average age was 24 years (11 to 60). 99mTc bone scans were done in 16 patients before MRI. Eleven patients had the diagnosis confirmed by biopsy and the remainder all responded rapidly to specific antituberculous chemotherapy. On T1-weighted images there was a decrease in signal intensity of the involved bone and soft tissues; on T2-weighted images there was increased signal intensity. Depending on the stage of the disease, three different patterns of infection were revealed: osteitis, osteitis with an abscess, and osteitis with or without an abscess plus discitis. The anatomical pattern of involvement, particularly of the soft tissues and the discs, is specific for tuberculous disease. The ability of MRI to detect tuberculosis of the spine earlier than other techniques could reduce bone destruction and deformity and diminish the need for surgical intervention. Despite the specificity of the patterns revealed by MRI, biopsy is recommended during the stage of osteitis to confirm the diagnosis.
Asunto(s)
Vértebras Cervicales/patología , Interpretación de Imagen Asistida por Computador , Vértebras Lumbares/patología , Imagen por Resonancia Magnética , Vértebras Torácicas/patología , Tuberculosis de la Columna Vertebral/diagnóstico , Absceso/complicaciones , Absceso/diagnóstico , Absceso/terapia , Adolescente , Adulto , Biopsia con Aguja , Niño , Discitis/complicaciones , Discitis/diagnóstico , Discitis/terapia , Drenaje , Femenino , Humanos , Isoniazida/uso terapéutico , Masculino , Persona de Mediana Edad , Osteítis/complicaciones , Osteítis/diagnóstico , Osteítis/terapia , Reproducibilidad de los Resultados , Rifampin/uso terapéutico , Factores de Tiempo , Tuberculosis de la Columna Vertebral/complicaciones , Tuberculosis de la Columna Vertebral/terapiaRESUMEN
We reviewed 41 knees at a mean of 4 years after arthroscopic lateral release of the extensor mechanism. The operations were performed for recurrent complete dislocation, not for subluxation, maltracking, or lateral pressure syndrome. Thirty-three of these knees were reviewed again 8 years after operation. There were 39% excellent results according to the criteria of Crosby and Insall at 4 years and 30% at 8 years. Patellar stability improved between 4 and 8 years (p < 0.01). The results in patients with subluxation of the patella on extension of the knee or generalized ligament laxity were poor; five of seven patients with these conditions were worse and had undergone another operation. With these conditions excluded, the excellent results decreased from 50% after 4 years to 37% after 8 years. The results of lateral release are better than those reported after other procedures. It is concluded that arthroscopic lateral release is the procedure of choice for patients with recurrent complete dislocation of the patella unless there is abnormal ligament laxity or subluxation on extension. The operation should not be performed in the presence of these conditions.
Asunto(s)
Luxaciones Articulares/cirugía , Rótula/lesiones , Adolescente , Adulto , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Recurrencia , Resultado del TratamientoRESUMEN
Stem cell adhesion to bone-marrow derived stroma, plays a crucial role in haemopoiesis. However, there is very little information as to the nature of the adhesion molecule. In this paper we have shown that human bone-marrow derived stroma can be established in tissue culture. This stroma is able to adhere human bone-marrow mononuclear cells including the multipotent stem cell, viz. CFU-GEMM. Their adherence increases when the stroma is treated with lymphokines in the form of PHA-treated leucocyte conditioned medium (PHA-LCM). Triton X-100 extracts of the untreated and PHA-LCM treated stroma were analysed on single dimension PAGE. It was observed that PHA-LCM treated stromal extracts showed two extra bands and an increase in the density of a band of approximately 14 kDa. Whether these changes have anything to do with the increased adhesion of stem cell is not yet known.