Improvement of oligonucleotide separation using a repetto high-performance liquid chromatography recycling approach.

A new approach for the improvement of separation of oligonucleotides by recycling ion-pairing chromatography is described. In the so-called repetto process, segments of separated compounds are sequentially returned to the inlet for multiple passages through the column without a need to pass a pump and with the possibility of detecting the level of separation between individual passages. Unlike in the recently described twin-column recycle approach in which eluents are repeatedly transferred between two separation columns, with the repetto method a single column is sufficient, and the detector is not exposed to high back pressure.

Risk of delayed diagnosis in young patients with left ventricular non-compaction - a potential benefit of magnetic resonance imaging.

Background: Left ventricular non-compaction (LVNC) is a rare form of cardiomyopathy resulting from a disorder of endomyocardial morphogenesis associated with significantly increased risk of cardiovascular morbidity and premature mortality. Despite the widespread use of echocardiography, LVNC is commonly overlooked, often due to lack of knowledge about this disorder.

Methods And Results: A complex diagnostic process and follow-up was analysed in 24 patients diagnosed with LVNC between March 2002 and February 2016 (16 boys, 8 girls; age at presentation 9 days - 18 years; follow-up 2-7 years).

Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy.

Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic.

High performance liquid chromatography column efficiency enhancement by zero dead volume recycling and practical approach using park and recycle arrangement.

A new instrumental approach to recycling HPLC is described. The concept is based on fast reintroduction of incremental peak sections back onto the separation column. The re-circulation is performed within a closed loop containing only the column and two synchronized switching valves.

Endothelial function in children with white-coat hypertension.

Several studies have demonstrated endothelial dysfunction in patients with essential hypertension. However, the presence of endothelial dysfunction in children with white-coat hypertension has not been studied. We evaluated the endothelial function in children with white-coat hypertension and essential hypertension using a novel method based on the assessment of flow-mediated dilation (FMD).

Neonatal Marfan syndrome: Report of two cases.

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period.

Myocardial scarring after repair of anomalous origin of the left coronary artery from pulmonary artery.

Objectives: Prognosis of patients with anomalous origin of the left coronary artery from pulmonary artery has dramatically improved as a result of both, early diagnosis and improvements in surgical techniques. Post surgical complications are rare and most patients show quick improvement of the left ventricular performance after repair with complete functional recovery within one year after surgery. Exercise-induced electrocardiographic changes have been found in patients postoperatively and scars and perfusion deficits of the left ventricle may not be detected by standard echocardiographic evaluation.

Prenatal diagnosis of cardiac rhabdomyoma associated with tuberous sclerosis: report of 3 cases.

Cardiac rhabdomyoma is the most common cardiac tumor in fetal life, accounting for 60-86% of primary fetal cardiac tumors. It is primarily benign, originating form myocardial muscles and consisting of immature myocytes. About 50-60% of these tumors are associated with tuberous sclerosis.

White coat hypertension in pediatrics.

The article summarizes current information on blood pressure changes in children during clinic visit. White coat as a general dressing of physicians and health care personnel has been widely accepted at the end of the 19th century. Two problems can be associated with the use of white coat: white coat phenomenon and white coat hypertension.

A very rare case of late diagnosis of cor triatriatum sinistrum.

We presented a 73-year-old patient with a history of hospitalizations for heart failure as well as treatment for arterial hypertension and permanent atrial fibrillation and who was found to have cor triatriatum sinistrum in combination with bicuspid aortic valve. Patient refused surgical correction, but his condition improved on conservative therapy for heart failure and atrial fibrillation.

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.

Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.

Congenital complete and partial absence of the left pericardium.

Congenital absence of pericardium is a rare malformation. We report 2 young patients with a diagnosis of congenital absence of the pericardium. The posteroanterior view of the chest X-ray showed displacement of the left cardiac border into the left hemithorax.

Neurofibromatosis associated with hypertrophic cardiomyopathy.

We present a case of an 18-year-old boy with neurofibromatosis type 1 and hypertrophic cardiomyopathy with systolic anteward movement of the anterior leaflet of the mitral valve. Gradient in the left ventricular outflow was 85 mm Hg secondary to subvalvular aortic stenosis with left ventricular diastolic dysfunction. The possibility of a coincidence, or a causal relationship of these 2 conditions is mentioned.

Natural course following pediatric tracheostomy.

Objective: To describe the hospital course of pediatric posttracheostomy patients, their underlying diagnosis, and their demographic characteristics.

Design: Retrospective, descriptive record review.

Settings: Academic tertiary Pediatric Critical Care Unit.

Children with respiratory distress treated with high-flow nasal cannula.

Unlabelled: High-flow nasal cannula (HFNC) therapy is a treatment for respiratory distress in neonates and children. In the present study, we assessed its effectiveness, comfort, and possible mechanism of action.

Methods: We reviewed records of 46 patients treated with HFNC and estimated the modified COMFORT score (7 to 35 units), the respiratory clinical scale (0 to 12 units), and the oxygen saturation level.

Lactic acidosis in children with acute exacerbation of severe asthma.

This is a retrospective case series reporting lactic acidosis in four pediatric patients with acute severe asthma treated with nebulized beta2-agonists in a pediatric intensive care unit of a tertiary care teaching facility. During treatment with beta2-agonists, these patients developed lactic acidosis with a peak concentration of 5.2 to 13 mmol/l.

Atrial fibrillation associated with alcohol ingestion in adolescence: holiday heart in pediatrics.

An alcohol-naive 16-year-old male is presented with alcohol-induced atrial fibrillation. Past medical history, review of systems, and presentation were all otherwise benign. Atrial fibrillation occurred early in the intoxication at an alcohol level slightly higher than the legal limit for intoxication (153 mg/dL).