ABSTRACT
Congenital hypothyroidism (CH) is the most common endocrine disease in children, according to literature, infants with CH have an increased risk of associated congenital malformations (CM), especially cardiac defects (CD), compared to the general population. We retrospectively analyzed medical records of 255 patients with a positive screening result for CH in the period 1991-2016 followed at our Center. At the time of enrollment, the clinical examination included looking for the presence of heart murmurs and dysmorphic features. In all patients an echocardiography with cardiological evaluation were performed. Of all patients, 191 were included in the final analysis. Of these, 51.3% (98/191) presented an eutopic normally sized thyroid gland while 48.7% (93/191) showed a thyroid dysgenesis. Among the studied infants, 13.6% (26/191) presented CD. The most frequent cardiac anomaly was atrial septal defect (ASD) which was found in 65.4% (17/26) of patients with CD. Other defects were ventricular septal defect (VSD), patent ductus arteriosus (PDA), pulmonary valve stenosis (PvS), transposition of the great vessels (TGV), aortic valve stenosis (AvS). Six patients had multiple defects. In the analysed group, there was no significant relation with sex, type of CH, median blood-TSH (b-TSH) and serum-TSH (s-TSH) values and frequency of CD. There is a high prevalence of CD in CH, indicating the need of routine echocardiography in these patients to achieve an early diagnosis and management of CD.
Subject(s)
Congenital Hypothyroidism , Heart Defects, Congenital , Child , Congenital Hypothyroidism/diagnostic imaging , Congenital Hypothyroidism/epidemiology , Echocardiography , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/epidemiology , Humans , Retrospective StudiesABSTRACT
Chylous ascites is a peritoneal collection with milky appearance, rich in triglycerides produced by the presence of thoracic or intestinal lymph in the abdominal cavity. The increasing number of surgical interventions has meant an increase of this disease in the last time. We present the case of a 39-yearsold woman with a history of a retroperitoneal cystic lesion in the abdominal ultrasound, which was a finding, and was followed up for 5 years. In the last control abdominal ultrasound showed an accelerated growth, the study was complemented with a Magnetic Resonance Imaging of the abdomen showed a retroperitoneal cystic lesion, 7 cm larger diameter in contact with aorta, left ureter and lower pole of the left kidney, suspecting malignancy, reason why its surgical resection was decided. It evolved after the surgical intervention with progressive increase of the abdominal perimeter, diffuse pain and early satiety, performing abdominal ultrasound showing a liver of normal structure with moderate ascites. The diagnostic paracentesis gave out 1,000 mL of milky-white liquid with triglycerides of 1,287 mg/dL. The diagnosis of chylous ascites was proposed, secondary to thoracic duct injury and it was managed with a diet with low intake of saturated, polyunsaturated and monounsaturated fats, with medium chain triglycerides with favorable results. The pathophysiology, etiology, nutritional and non-nutritional management of chylous ascites are discussed.
La ascitis quilosa es una colección peritoneal con apariencia lechosa, rica en triglicéridos producido por la presencia de linfa torácica o intestinal en la cavidad abdominal. El creciente número de intervenciones quirúrgicas ha significado un aumento de esta patología en el último tiempo. Se presenta el caso de una mujer de 39 años, con historia de una lesión retroperitoneal quística en la ecotomografía abdominal, que fue un hallazgo, realizándose seguimiento por 5 años. En la última ecotomografía de control presentó crecimiento acelerado por lo que se complementa estudio con una Resonancia Nuclear Magnética de abdomen que muestro lesión quística retroperitoneal de 7 cm de diámetro mayor en contacto con aorta, uréter izquierdo y polo inferior del riñón izquierdo, sospechándose malignidad, por lo que se decide su resección. Evolucionó posterior a la intervención quirúrgica con aumento progresivo del perímetro abdominal, dolor difuso y saciedad precoz, realizándose ecotomografía abdominal que muestra un hígado de estructura normal con ascitis moderada. La paracentesis diagnóstica dio salida a 1.000 mL de líquido blanquecino de aspecto lechoso con triglicéridos de 1.287 mg/dL. Se planteó el diagnóstico de ascitis quilosa, secundario a lesión del conducto torácico y se manejó con dieta con bajo aporte en grasas saturadas, poliinsaturadas y monoinsaturadas, con aporte de triglicéridos de cadena media con resultados favorables. Se discuten la fisiopatología, etiología, manejo nutricional y no nutricional de la ascitis quilosa.
Subject(s)
Humans , Female , Adult , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Chylous Ascites/diagnosis , Chylous Ascites/etiology , Postoperative Complications/therapy , Thoracic Duct/injuries , Chylous Ascites/therapy , Diagnosis, DifferentialABSTRACT
AIMS: To investigate the Oenococcus oeni population occurring during spontaneous malolactic fermentation (MLF) of Amarone wine, a peculiar and hostile environment for malolactic bacteria. METHODS AND RESULTS: Pulsed-field gel electrophoresis (PFGE) analysis showed a high level of genetic heterogeneity within the O. oeni population involved in MLF throughout an industrial vinification of Amarone wine. The 13 strains with distinct PFGE profile displayed different capability to hydrolyse esters and glycosides, as well as great variability to growth under stress parameters, such as high ethanol content (15% v/v), low pH (3·0) and temperature (15°C), and presence of SO(2). Moreover, polymorphism in the gene sacB involved in exopolysaccharide production was observed among the strains. The strains showed differences to convert l-malic acid into l-lactic acid in wine. CONCLUSIONS: The occurrence of spontaneous MLF in stressful ecosystems such as Amarone wine is related to the heterogeneity of O. oeni community; biodiversity indexes and strain evolution analyses suggested that its success depends on its initial strain evenness. SIGNIFICANCE AND IMPACT OF THE STUDY: Remarkable intraspecies complexity within the O. oeni natural population could explain the great versatility of this species as key of successful adaptation to harsh winemaking conditions.
