RESUMEN
Radiofrequency ablation (RFA) is the preferred treatment option for Barrett's esophagus (BE) to achieve complete eradication (CE) of dysplasia (D), and intestinal metaplasia (IM). Cryotherapy, using liquid nitrogen (LNC), is a cold-induced tissue-injury technique option for the ablation of BE. We conducted a systematic review and meta-analysis to assess the overall efficacy and safety of LNC in the treatment of BE. We conducted a search of multiple electronic databases and conference proceedings from inception through June 2018. The primary outcome was to estimate the pooled rates of CE-IM, CE-D, and CE-HGD. The secondary outcome was to estimate the risk of adverse events and recurrence of disease after LNC. Nine studies reported 386 patients who were treated with LNC. The pooled rate of CE-IM was 56.5% (95% CI 48.5-64.2, I2 = 47), pooled rate of CE-D was 83.5% (95% CI 78.3-87.7, I2 = 22.8), and pooled rate of CE-HGD was 86.5% (95% CI 64.4-95.8, I2 = 88.1). Rate of adverse events was 4.7%, and the risk of BE recurrence was 12.7%. On subgroup analysis, the pooled rate of CE-IM with LNC in patients who failed RFA was 58.4% (95% CI 47.2-68.8, I2 = 32.5), and the pooled rate of CE-D in the same population was 81.9% (95% CI 72.5-88.6, I2 = 5.9). CE-D rates with LNC are comparable to RFA while CE-IM rates appear to be lower than the rates achievable with RFA. CE-IM rate in RFA failed patients is 58.4% and thus LNC is a rescue option to consider in this population.
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Esófago de Barrett/cirugía , Criocirugía , Mucosa Esofágica/patología , Criocirugía/efectos adversos , Criocirugía/métodos , Humanos , Metaplasia/cirugía , NitrógenoRESUMEN
PURPOSE: Pediatric cervical spine injuries constitute approximately 1-2% of all pediatric trauma cases. Usually pediatric vertebral injuries appear as stable A type fractures, whereas B and C type injuries are relatively uncommon. In contrast to adults, the appropriate treatment strategy in children is still controversial and places spine surgeons in complex situations. This article reports the case of a 4-year-old girl with an unstable B type injury at the C6/7 level (AOSpine C6-7: B2 [F4 BL, C7:A1]) with bilateral locked fractures of the facet joints after falling down a flight of stairs. PATIENT AND METHODS: Magnetic resonance imaging (MRI) and computed tomography (CT) were initially performed. The 4year-old girl was treated under intraoperative neurophysiological monitoring via open reduction after partial resection of both C7 upper articular processes and nonmetallic monosegmental posterior interlaminar fusion (FiberWire®) at the C6/7 level with temporary immobilization in a halo brace. RESULTS: Clinical and radiological follow-up was carried out after 9 months. The patient suffered no pain or neurological deficits. Plain radiographs revealed a correct cervical alignment with anatomical correction of the initial dislocation. CONCLUSION: The treatment of highly unstable pediatric B type injuries of the lower cervical spine via open reduction and nonmetallic monosegmental posterior interlaminar fusion results in good clinical and radiological outcomes. A temporary immobilization in a halo brace provides stability until osseous fusion occurs.
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Luxaciones Articulares , Fracturas de la Columna Vertebral , Fusión Vertebral , Traumatismos Vertebrales , Vértebras Cervicales , Preescolar , Femenino , Fracturas Óseas , HumanosRESUMEN
Neonatal seizures associated with hypoxic-ischemic encephalopathy (HIE) pose a challenge in their acute clinical management and are often followed by long-term neurological consequences. We used a newly characterized CD-1 mouse model of neonatal ischemic seizures associated with age-dependent (P7 vs. P10) seizure severity and phenobarbital efficacy (i.e.; PB-resistant vs. PB-efficacious respectively) following unilateral carotid ligation. The long-term consequences following untreated neonatal seizures in P7 vs. P10 ligated pups were investigated using neurobehavioral testing, 24â¯h v- quantitative EEG -EMG (qEEG, qEMG), and western blot analyses in adult mice. Significant hyperactivity emerged in a small sub-set of mice in both age-groups associated with a failure to habituate during open-field (OF) testing. 24â¯h continuous qEEGs detected significantly altered sleep architecture due to long-wake cycles in both age-groups. Delta power (0.5-4â¯Hz) quantification during slow-wave-sleep (SWS) revealed significant SWS compensation in P10 ligates following periods of increased sleep pressure which the P7 ligate group failed to show. Theta/beta ratios deemed as negative correlation markers of attentional control were significantly higher only in the P10 ligates. These results indicate that neonatal age-dependent differences in the characteristics of ischemic neonatal seizures in CD-1 pups differentially modulate long-term outcomes, when evaluated with v-qEEG/EMG as adults.
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Isquemia Encefálica/fisiopatología , Modelos Animales de Enfermedad , Electroencefalografía/métodos , Convulsiones/fisiopatología , Trastornos del Sueño-Vigilia/fisiopatología , Factores de Edad , Animales , Animales Recién Nacidos , Isquemia Encefálica/complicaciones , Femenino , Masculino , Aprendizaje por Laberinto/fisiología , Ratones , Convulsiones/complicaciones , Trastornos del Sueño-Vigilia/etiologíaRESUMEN
Multiple techniques for quantification of hippocampal subfields from in vivo MRI have been proposed. Linking in vivo MRI to the underlying histology can help validate and improve these techniques. High-resolution ex vivo MRI can provide an intermediate modality to map information between these very different imaging modalities. This article evaluates the ability to match information between in vivo and ex vivo MRI in the same subjects. We perform rigid and deformable registration on 10 pairs of in vivo (3 T, 0.4 × 0.4 × 2.6 mm3) and ex vivo (9.4 T, 0.2 × 0.2 × 0.2 mm3) scans, and describe differences in MRI appearance between these modalities qualitatively and quantitatively. The feasibility of using this dataset to validate in vivo segmentation is evaluated by applying an automatic hippocampal subfield segmentation technique (ASHS) to in vivo scans and comparing SRLM (stratum/radiatum/lacunosum/moleculare) surface to manual tracing on corresponding ex vivo scans (and in 2 cases, histology). Regional increases in thickness are detected in ex vivo scans adjacent to the ventricles and were not related to scanner, resolution differences, or susceptibility artefacts. Satisfactory in vivo/ex vivo registration and subvoxel accuracy of ASHS segmentation of hippocampal SRLM demonstrate the feasibility of using this dataset for validation, and potentially, improvement of in vivo segmentation methods.
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Hipocampo/diagnóstico por imagen , Imagen por Resonancia Magnética , Anciano , Anciano de 80 o más Años , Encefalopatías/diagnóstico por imagen , Encefalopatías/patología , Femenino , Hipocampo/patología , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/instrumentación , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Reconocimiento de Normas Patrones Automatizadas/métodos , Fantasmas de ImagenRESUMEN
BACKGROUND: Adult spinal deformity (ASD) is a complex entity that has had emerging significance for spine surgeons in the last decade. Sagittal and/or coronary deformities can have a high impact (disability, pain) on the quality of patients' life. Radiologic diagnostics determine the common spinopelvic parameters as the basis for classification of ASD. TREATMENT: Conservative treatment options may be sufficient in mild cases. The deformity's complexity frequently demands the entire spectrum of methods and techniques in spinal surgery. This article gives an overview on the development of the ASD, the correct classification as well as the indication for surgical therapy.
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Escoliosis , Adulto , Humanos , Dolor , Radiografía , Escoliosis/diagnóstico por imagen , Escoliosis/cirugía , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/cirugíaRESUMEN
Breast cancer is the most common malignancy affecting women and the spinal column is most likely affected by metastases. Modern oncologic treatment options have significantly prolonged survival times in the last decade. Therefore, treatment of vertebral metastases has been of special interest in spine surgery. Different scores are described to evaluate prognosis and to choose correct treatment strategies, which however only differentiate tumor entities and not specific tumor phenotypes. Breast cancer has been classified into five intrinsic subtypes with different survival rates since the turn of the millennium. The aim of this review was to describe molecular predictors of breast cancer malignancy and to better estimate expected survival times and invasiveness of therapies with regard to spinal metastases.
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Neoplasias de la Mama/patología , Neoplasias de la Mama/terapia , Neoplasias de la Columna Vertebral/terapia , Adulto , Neoplasias de la Mama/genética , Neoplasias de la Mama/mortalidad , Femenino , Humanos , Metástasis de la Neoplasia/patología , Fenotipo , Pronóstico , Neoplasias de la Columna Vertebral/mortalidad , Neoplasias de la Columna Vertebral/secundario , Tasa de SupervivenciaRESUMEN
BACKGROUND: The cervical spine is very complex, and it allows the largest range of motion relative to the rest of the spine. The fundamental function of the cervical spine is to maintain the head balanced over the trunk and to maintain horizontal gaze. The cervical spine must be both stable and flexible to guarantee function. Changes of the sagittal profile of the cervical spine may affect function and quality of life. The relationship between full body alignment and maintaining gaze necessitates a thorough understanding of the cranio-spino-pelvic alignment as a component of balance. QUESTION: Now the question is, what kind of sagittal profile does the cervical spine need for proper function? In the literature, normal sagittal alignment of the cervical spine is controversial. In general, there is the assumption that the alignment is lordotic. Does the data in the literature support this? RESULTS: The present literature review supports the following facts: Ideal cervical spine alignment is mostly lordotic, but not always; ideal cervical spine alignment can be lordotic, neutral or kyphotic; ideal cervical spine alignment is driven by the necessity of supporting the head and maintaining horizontal gaze; the cervical spine is in harmony with regional alignment (thoracic kyphosis) and sagittal global alignment (SVA): TK (↑)â¯â T1 Slope (↑)â¯â CL (↑), TK (↓)â¯â T1 Slope (↓)â¯â CL (↓), SVA >50â¯mm: the cervical curve should be lordotic to maintain horizontal gaze, SVA <0â¯mm: the cervical curve should be kyphotic to maintain horizontal gaze.
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Cifosis , Lordosis , Humanos , Calidad de Vida , Radiografía , Columna VertebralRESUMEN
To determine trends in the diagnostic distribution of esophageal motility disorders after implementation of the Chicago Classification Version 3.0 (CC V3.0) for interpretation of high-resolution manometry (HRM) studies compared to non-Chicago Classification criteria. Retrospective trends analysis of patients with an HRM study conducted at a single center from January 1, 2013 to September 30, 2015. The implementation of the CC V3.0 for manometry interpretation occurred in September 2014. Patient charts were manually reviewed for data collection including demographics and HRM diagnoses. The prevalence and relative risks (RR) of CC V3.0 diagnostic categories (i.e. normal, indeterminate, achalasia, and EGJ outflow obstruction [EJGOO], and major and minor motility disorders) were calculated before and after CC V3.0 implementation. Four hundred sixty-five HRM studies were included in the study including 268 before and 179 after CC V3.0 implementation. The mean ± SD age was 54 ± 15.4 years and 59.8% were female (n = 278). The percentage with indeterminate diagnosis decreased from 35.3% before CC V3.0 implementation to 16.8% after implementation (adjusted RR 0.5, 95%CI 0.30-0.70, p < 0.001). The percentage with a major motility disorders decreased from 13.9% to 7.3% (adjusted RR 0.5, 95%CI 0.2-1.0, p < 0.001). The percentage with EJGOO and minor diagnoses increased from 1.4% to 14.5% and 11.9% to 22.9%, respectively. The percentage with achalasia and normal diagnosis did not change over the study period. Implementation of CCV3.0 was associated with changes in the distribution of esophageal motility diagnoses in clinical practice. The percentage of indeterminate and major diagnosis decreased and EGJOO and minor diagnoses increased. The decrease in the number of indeterminate studies suggests that the CC V3.0 may clarify the criteria for the interpreting physician. The increase in studies with a diagnosis of EGJ outflow obstruction may reflect the heterogeneity of disorders with clinically relevant outflow obstruction.
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Trastornos de la Motilidad Esofágica/clasificación , Trastornos de la Motilidad Esofágica/diagnóstico , Manometría , Adulto , Anciano , Acalasia del Esófago/diagnóstico , Trastornos de la Motilidad Esofágica/fisiopatología , Femenino , Humanos , Masculino , Manometría/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la EnfermedadRESUMEN
Non-infectious pulmonary complications following hematopoietic stem cell transplantation are entities occuring early or late, depending on whether they occur before or after 100 days post-transplantation. They have firstly to be differentiated from infectious complications, which is not always easy, as their clinical and radiological aspects can mimic a viral or bacterial pneumonia. Corticosteroids are the most given treatment but a significant subset of patients have a fatal outcome. This article will review the clinical, radiological, functionnal features and the therapeutic options of six entities (engraftment syndrome, diffuse alveolar hemorrage, idiopathic pneumonia syndrome, organizing pneumonia, bronchiolitis obliterans, post-transplantation lympho-proliferative disease).
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Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedades Pulmonares/etiología , Reacción Injerto-Huésped , HumanosRESUMEN
Less than 5% of all cases of haemoptysis are considered to be massive, representing a life-threatening condition that warrants urgent investigations and treatment. Efforts should be concentrated on determining the origin of the haemoptysis and the presence of an underlying respiratory pathology, in order to ensure supportive measures and a rapid control of the bleeding. Bronchial artery embolization is considered to be the treatment of choice and thoracic surgery should only be considered in cases of localized lesions with a high risk of re-bleeding, pulmonary artery hemorrhage and failure or contraindications to embolization.
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Hemoptisis/terapia , Algoritmos , Arterias Bronquiales , Broncoscopía , Embolización Terapéutica , Urgencias Médicas , Humanos , Radiografía Torácica , Vasoconstrictores/uso terapéuticoRESUMEN
Early identification of chronic hepatitis B is important for optimal disease management and prevention of transmission. Cost and lack of access to commercial hepatitis B surface antigen (HBsAg) immunoassays can compromise the effectiveness of HBV screening in resource-limited settings and among marginalized populations. High-quality point-of-care (POC) testing may improve HBV diagnosis in these situations. Currently available POC HBsAg assays are often limited in sensitivity. We evaluated the NanoSign(®) HBs POC chromatographic immunoassay for its ability to detect HBsAg of different genotypes and with substitutions in the 'a' determinant. Thirty-seven serum samples from patients with HBV infection, covering HBV genotypes A-G, were assessed for HBsAg titre with the Roche Elecsys HBsAg II quantification assay and with the POC assay. The POC assay reliably detected HBsAg at a concentration of at least 50 IU/mL for all genotypes, and at lower concentrations for some genotypes. Eight samples with substitutions in the HBV 'a' determinant were reliably detected after a 1/100 dilution. The POC strips were used to screen serum samples from 297 individuals at risk for HBV in local clinical settings (health fairs and outreach events) in parallel with commercial laboratory HBsAg testing (Quest Diagnostics EIA). POC testing was 73.7% sensitive and 97.8% specific for detection of HBsAg. Although the POC test demonstrated high sensitivity over a range of genotypes, false negatives were frequent in a clinical setting. Nevertheless, the POC assay offers advantages for testing in both developed and resource-limited countries due to its low cost (0.50$) and immediately available results.
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Cromatografía de Afinidad/métodos , Pruebas Diagnósticas de Rutina/métodos , Antígenos de Superficie de la Hepatitis B/sangre , Hepatitis B Crónica/diagnóstico , Sistemas de Atención de Punto , Reacciones Falso Negativas , Genotipo , Virus de la Hepatitis B/genética , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y EspecificidadRESUMEN
AIM: Biliary strictures that are suspicious for cholangiocarcinoma (CCA) are commonly encountered in clinical practice in patients with and without primary sclerosing cholangitis (PSC). A definitive histologic diagnosis of CCA via endoscopic retrograde cholangiography (ERCP) is often not obtainable with standard biliary brush cytology. Peroral cholangioscopy is an additional tool to help provide a diagnosis of CCA in patients with suspicious biliary strictures. Aim of the study was to assess the use of peroral cholangioscopy in patients with and without PSC and indeterminate biliary strictures. METHODS: Retrospective study. RESULTS: 25 patients were included in the study. All patients underwent ERCP with peroral cholangioscopy. Tissue samples obtained included routine cytology, fluorescent in-situ hybridization, and cholangioscopic-directed forceps biopsies. The operating characteristics of cholangioscopy to detect malignancy in 18 PSC patients with suspected cholangiocarcinoma were a sensitivity of 75%, specificity of 55%, and a positive predictive value (PPV) of 23%, and a negative predictive value of 92%. In 7 non-PSC patients with suspected cholangiocarcinoma these values sensitivity=100%, 25%, 50%, and NPV=100%, respectively. The overall operating characteristics of cholangioscopy to detect malignancy in all 25 patients with suspected cholangiocarcinoma were: sensitivity of 86%, specificity of 50%, PPV of 32%, and NPV of 93%. CONCLUSION: Cholangioscopy helps identify sites for tissue acquisition in PSC and non-PSC patients with biliary strictures suspicious for malignancy.
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Neoplasias de los Conductos Biliares/diagnóstico , Conductos Biliares Intrahepáticos/patología , Colangiocarcinoma/diagnóstico , Endoscopía del Sistema Digestivo/métodos , Anciano , Biopsia , Colangiopancreatografia Retrógrada Endoscópica/métodos , Constricción Patológica/diagnóstico , Diagnóstico Diferencial , Endoscopía Gastrointestinal , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Due to the increasing number of implanted shoulder prostheses following trauma or omarthritis in the recent past, an increase in the occurrence of periprosthetic humeral fractures is to be expected in the future. PROBLEM: For type B fractures according to Worland the current literature clearly recommends operative treatment with fixed angle plate osteosynthesis or a long-stemmed cement-free revision endoprosthesis. This article presents a case study on the clinical and radiological results of a conservatively treated periprosthetic humeral fracture (Wright type B or type B2 according to Worland) and a discussion of the current literature. MATERIAL AND METHODS: A 70-year-old woman was diagnosed with a periprosthetic humeral fracture with an enclosed fracture endoprosthesis (Wright type B). The operative treatment with fixed angle plate osteosynthesis and the alternative conservative therapy with a brace construct were discussed with the patient. The patient decided on the conservative therapy with regular radiological course control. RESULTS: The conservative therapy of periprosthetic type B2 humeral fractures according to Worland using retention in an upper arm brace can lead to excellent radiological and functional results.
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Tirantes , Prótesis Articulares/efectos adversos , Fracturas del Hombro/etiología , Fracturas del Hombro/terapia , Anciano , Femenino , Humanos , Resultado del TratamientoRESUMEN
The differential diagnosis of lumbar back pain includes a broad spectrum of vertebral and extravertebral pathologies. Even in cases of a traumatic event physicians should keep an extravertebral cause in mind. This is a case report on the coincidence of perforated sigma diverticulitis and traumatic spine compression fracture in an 85-year-old woman with acute back pain. The presence of free retroperitoneal gas in the computed tomography (CT) scan was of significant diagnostic importance.
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Dolor de Espalda/diagnóstico , Dolor de Espalda/etiología , Diverticulitis del Colon/complicaciones , Diverticulitis del Colon/diagnóstico por imagen , Fracturas por Compresión/diagnóstico por imagen , Fracturas de la Columna Vertebral/diagnóstico por imagen , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Fracturas por Compresión/complicaciones , Humanos , Radiografía , Fracturas de la Columna Vertebral/complicacionesRESUMEN
Chronic cough is one of the most common symptoms for which outpatient care is sought. The most frequent causes are upper airway cough syndrome, asthma, and gastroesophageal reflux. It is often difficult to determine the origin of chronic cough based on the medical history and physical examination. Empirical treatment directed at the three aforementioned etiologies is thus of considerable value in the initial workup. Treatment failure is most commonly due to insufficient treatment (dosage or duration) or to the coexistence of several causes needing simultaneous use of different drugs.
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Tos/diagnóstico , Tos/terapia , Adulto , Factores de Edad , Enfermedad Crónica , Tos/etiología , Diagnóstico Diferencial , Reflujo Gastroesofágico/complicaciones , Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/terapia , Humanos , Enfermedades Pulmonares Obstructivas/complicaciones , Enfermedades Pulmonares Obstructivas/diagnóstico , Enfermedades Pulmonares Obstructivas/terapia , Síndrome , Tabaquismo/complicaciones , Tabaquismo/diagnóstico , Tabaquismo/terapiaRESUMEN
Obstructive sleep apnea (OSA) is a common condition most often characterized by daytime sleepiness. cPAP therapy is very effective in reversing symptoms. However, some patients still complain of excessive daytime sleepiness despite treatment, It is essential to document sufficient use of CPAP and to rule out the presence of residual respiratory events. Search for other underlying causes of sleepiness are then to be investigated by a detailed history together with a sleep night recording. The purpose of this article is to guide the clinician in providing comprehensive medical care for those patients.
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Presión de las Vías Aéreas Positiva Contínua , Trastornos de Somnolencia Excesiva/epidemiología , Trastornos de Somnolencia Excesiva/terapia , Apnea Obstructiva del Sueño/terapia , Ritmo Circadiano , Presión de las Vías Aéreas Positiva Contínua/métodos , Trastornos de Somnolencia Excesiva/complicaciones , Trastornos de Somnolencia Excesiva/diagnóstico , Humanos , Prevalencia , Síndrome de las Piernas Inquietas/complicaciones , Síndrome de las Piernas Inquietas/epidemiología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/epidemiologíaRESUMEN
AIM: Double balloon enteroscopy (DBE) has been extensively used in tertiary referral centers but little literature exists on the efficacy, complications and outcomes of patients undergoing DBE in the community setting. We present our findings regarding the use of DBE in a community hospital. METHODS: From March 2007 to January 2011, 88 DBE procedures were performed on 66 patients. Indications included evaluation anemia/gastrointestinal bleed, small bowel IBD and dilation of strictures. Video-capsule endoscopy (VCE) was used prior to DBE in 43 of the 66 patients prior to DBE evaluation. RESULTS: The mean age was 62 years. Thirty-two patients were female, 15 were African-American; 44 antegrade and 44 retrograde DBEs were performed. The mean time per antegrade DBE was 107.4±30.0 minutes with a distance of 318.4±152.9 cm reached past the pylorus. The mean time per lower DBE was 100.7±27.3 minutes with 168.9±109.1 cm meters past the ileocecal valve reached. Endoscopic therapy in the form of electrocautery to ablate bleeding sources was performed in 20 patients (30.3%), biopsy in 17 patients (25.8%) and dilation of Crohn's-related small bowel strictures in 4 (6.1%). 43 VCEs with pathology noted were performed prior to DBE, with findings endoscopically confirmed in 32 cases (74.4%). In 3 cases the DBE showed findings not noted on VCE. CONCLUSION: DBE appears to be equally safe and effective when performed in the community setting as compared to a tertiary referral center with a comparable yield, efficacy, and complication rate.
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Enteroscopía de Doble Balón , Centros Comunitarios de Salud , Enteroscopía de Doble Balón/efectos adversos , Femenino , Humanos , Enfermedades Intestinales/diagnóstico , Enfermedades Intestinales/cirugía , Masculino , Persona de Mediana EdadRESUMEN
The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at position 192 specifies high activity PON whereas a glutamine specifies the low activity variant. Allele-specific probes or restriction enzyme analysis of amplified DNA allow for the genotyping of individuals. PON maps to chromosome 7q21-22, proximal to the cystic fibrosis gene, in agreement with previous genetic linkage studies.
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Paraoxon , Monoéster Fosfórico Hidrolasas/genética , Arildialquilfosfatasa , Secuencia de Bases , Cromosomas Humanos Par 7 , Clonación Molecular , ADN , Humanos , Datos de Secuencia Molecular , Monoéster Fosfórico Hidrolasas/sangre , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
We report the unprecedented finding of a gene with a different map position in two mouse strains. The Clcn4 gene was found to map to the X chromosome in the wild Mediterrean mouse, Mus spretus but to chromosome 7 in the inbred strain of laboratory mouse C57BL/6J. These data indicate that a recent evolutionary rearrangement occurred on the mouse sex chromosomes, very close to the pseudoautosomal region. Our data provide molecular evidence for a major divergence near the pseudoautosomal region, consistent with the hypothesis that hybrid sterility in these species results from abnormal pairing of sex chromosomes during male meiosis.
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Canales de Cloruro/genética , Mapeo Cromosómico , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Evolución Biológica , Cartilla de ADN , Femenino , Reordenamiento Génico , Humanos , Masculino , Ratones , Ratones Endogámicos C57BL , Datos de Secuencia Molecular , Muridae , Homología de Secuencia de Aminoácido , Especificidad de la Especie , Cromosoma XRESUMEN
The gene encoding the granulocyte macrophage colony stimulating factor receptor alpha subunit (CSF2RA) has previously been mapped to the pseudoautosomal region of the human sex chromosomes. In contrast, we report that the murine locus, Csf2ra, maps to an autosome in the laboratory mouse. By in situ hybridization and genetic mapping, Csf2ra maps at telomeric band D2 of mouse chromosome 19. This first instance of a pseudoautosomal locus in human being autosomal in mouse, indicates incomplete conservation between the human and mouse X chromosomes and suggests that the genetic content of the pseudoautosomal region may differ between species of eutherian mammals due to chromosomal rearrangements.