RESUMEN
BACKGROUND: Elevated serum uric acid levels and increased arginase activity are risk factors for cardiovascular diseases (CVD). The aim of the present study was to investigate effects of serum uric acid levels on the arginase pathway in women with metabolic syndrome (MetS). METHODS: Serum arginase activity, and nitrite and uric acid levels were measured in 48 women with MetS and in 20 healthy controls. The correlation of these parameters with components of MetS was also evaluated. RESULTS: Our data show statistically higher arginase activity and uric acid levels but lower nitrite levels in women with MetS compared to controls. Serum uric acid levels were negatively correlated with HDL cholesterol, nitrite levels and positively with Body Mass Index, waist to hip ratio, triglyceride and total cholesterol levels, systolic blood pressure, Homeostasis Model Assessment-Insulin Resistance-Index, serum arginase activity, and LDL-cholesterol levels in women with MetS. CONCLUSION: Results of the present study suggest that serum uric acid levels may contribute to the pathogenesis of MetS through a process mediated by arginase pathway, and serum arginase activity and nitrite and uric acid levels can be used as indicators of CVD in women with MetS.
Asunto(s)
Arginasa/sangre , Síndrome Metabólico/metabolismo , Ácido Úrico/sangre , Adulto , Glucemia/análisis , Índice de Masa Corporal , Enfermedades Cardiovasculares/metabolismo , Estudios de Casos y Controles , HDL-Colesterol/sangre , Femenino , Humanos , Resistencia a la Insulina , Síndrome Metabólico/sangre , Persona de Mediana Edad , Factores de Riesgo , Triglicéridos/sangreRESUMEN
UNLABELLED: Vasculitis in childhood is a result of a spectrum of causes ranging from idiopathic conditions with primary vessel inflammation to syndromes after exposure to recognized antigenic triggers, such as infectious agents and drugs causing hypersensitivity reactions. Henoch-Schönlein purpura (HSP) is the most common vasculitis of childhood. Although there is often a history of a recent or simultaneous upper respiratory tract infection, no consistent causative organism is found. We report an 11-year old boy with HSP and brucellosis and we speculated that brucellosis was the trigger agent for HSP (Ref. 13). KEYWORDS: brucellosis, trigger agent, Henoch-Schönlein purpura, vasculitis, infectious agents, drug, hypersensitivity reactions, primary vessel inflammation.
Asunto(s)
Brucelosis/complicaciones , Vasculitis por IgA/etiología , Niño , Humanos , MasculinoRESUMEN
Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.
Asunto(s)
Proteína de Unión a CREB/genética , Deleción Cromosómica , Encefalitis por Varicela Zóster/genética , Síndrome de Rubinstein-Taybi/genética , Emparejamiento Base , Mapeo Cromosómico , Análisis Mutacional de ADN , Proteína p300 Asociada a E1A/genética , Encefalitis por Varicela Zóster/diagnóstico , Exones , Tamización de Portadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Síndrome de Rubinstein-Taybi/diagnósticoRESUMEN
Report of a girl with VACTERL syndrome and right pulmonary agenesis: VACTERL syndrome is a combination of vertebral anomalies (V), anal atresia (A), congenital heart defects (C), tracheo-esophageal fistula (T), esophageal atresia (E), abnormalities of kidneys (renal anomalies, R) and limbs (L). In the present patient right pulmonary agenesis is co-occurring with VACTERL syndrome. We report on this case because the association of right pulmonary agenesis and VACTERL syndrome is rare.
Asunto(s)
Anomalías Múltiples , Pulmón/anomalías , Ano Imperforado , Atresia Esofágica , Femenino , Cardiopatías Congénitas , Humanos , Lactante , Riñón/anomalías , Deformidades Congénitas de las Extremidades , Columna Vertebral/anomalías , Síndrome , Fístula Traqueoesofágica , TurquíaRESUMEN
This study included 40 children, who were diagnosed with pneumonia and pulmonary hypertension (from the radiographic and clinical features), was performed at Yuzuncu Yil University Faculty of Medicine, Department of Pediatrics, from September 2003 to July 2005. Patients who had pneumonia and congenital heart disease or systemic hypertension or renal and liver disease together were excluded from the study. Blood gas analysis and oxygen concentration, measured with pulse oximetry, were performed in all patients. Besides chest X-ray, electrocardiography and echocardiographic search was also carried out. Echocardiographic examination was performed by using M mode, two-dimensional echocardiography and colored Doppler sonotron Vingmed CFM 725. At echocardiographic examination, pulmonary hypertension is defined as above 35 mmHg of pulmonary artery pressure. For echocardiographic examination, patients with pulmonary hypertension were divided into two groups. Captopril (2 mg/kg/day, three doses a day) and nifedipine (0.5 mg/kg/day, three doses a day) were given to the first and the second group, respectively. Echocardiography was performed daily until normal pulmonary artery pressure was achieved. At the beginning of the treatment, the patients were treated with double antibiotics and antibiotic change was carried out in needed cases at the follow up. Digoxin was administered to the cases of respiratory infection with heart failure.