RESUMEN
A characteristic feature of asthma is the aberrant accumulation, differentiation or function of memory CD4(+) T cells that produce type 2 cytokines (TH2 cells). By mapping genome-wide histone modification profiles for subsets of T cells isolated from peripheral blood of healthy and asthmatic individuals, we identified enhancers with known and potential roles in the normal differentiation of human TH1 cells and TH2 cells. We discovered disease-specific enhancers in T cells that differ between healthy and asthmatic individuals. Enhancers that gained the histone H3 Lys4 dimethyl (H3K4me2) mark during TH2 cell development showed the highest enrichment for asthma-associated single nucleotide polymorphisms (SNPs), which supported a pathogenic role for TH2 cells in asthma. In silico analysis of cell-specific enhancers revealed transcription factors, microRNAs and genes potentially linked to human TH2 cell differentiation. Our results establish the feasibility and utility of enhancer profiling in well-defined populations of specialized cell types involved in disease pathogenesis.
Asunto(s)
Asma/genética , Asma/inmunología , Predisposición Genética a la Enfermedad , Células TH1/inmunología , Células Th2/inmunología , Adolescente , Adulto , Anciano , Sitios de Unión/genética , Sitios de Unión/inmunología , Diferenciación Celular/inmunología , Células Cultivadas , Subunidad alfa 3 del Factor de Unión al Sitio Principal/genética , Metilación de ADN/genética , Epigenómica , Femenino , Factor de Transcripción GATA3/genética , Estudio de Asociación del Genoma Completo , Histonas/genética , Histonas/inmunología , Humanos , Memoria Inmunológica/inmunología , Masculino , MicroARNs/genética , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas/genética , Unión Proteica/genética , Unión Proteica/inmunología , Análisis de Secuencia de ARN , Proteínas de Dominio T Box/genética , Adulto JovenRESUMEN
Torsion of the gallbladder resulting in a volvulus is a rare clinical finding that poses a diagnostic challenge preoperatively to both surgeons and radiologists. It is thought to occur secondary to a redundant mesentery where rotation of the gallbladder occurs along the axis of the cystic duct and cystic artery. Gallbladder volvulus commonly presents as acute cholecystitis and is rarely diagnosed preoperatively. An early emergency laparoscopic cholecystectomy is the preferred treatment. Early consideration of this diagnosis enables prompt surgical intervention and quick postoperative recovery periods.
Asunto(s)
Enfermedades de la Vesícula Biliar/diagnóstico , Vesícula Biliar/anomalías , Anomalía Torsional/diagnóstico , Anciano , Colecistectomía Laparoscópica , Diagnóstico Diferencial , Femenino , Enfermedades de la Vesícula Biliar/cirugía , Humanos , Tomografía Computarizada por Rayos X , Anomalía Torsional/cirugíaRESUMEN
We report a case of traumatic inguinal hernia following blunt abdominal trauma after a road traffic accident and describe the circumstances and technique of repair. The patient suffered multiple upper limb fractures and developed acute swelling of the right groin and scrotum. CT scan confirmed the acute formation of a traumatic inguinal hernia. Surgical repair was deferred until resolution of the acute swelling and subcutaneous haematoma. The indication for surgery was the potential for visceral strangulation or ischaemia with the patient describing discomfort on coughing. At surgery there was complete obliteration of the inguinal canal with bowel and omentum lying immediately beneath the attenuated external oblique aponeurosis. A modified prolene mesh hernia repair was performed after reconstructing the inguinal ligament and canal in layers.To our knowledge, this is the first documented case of the formation of an acute direct inguinal hernia caused as a result of blunt abdominal trauma with complete disruption of the inguinal canal. Surgical repair outlines the principles of restoration of normal anatomy in a patient who is physiologically recovered from the acute trauma and whose anatomy is distorted as a result of his injuries.