Growth Trajectory in Children with Trisomy 21 with and without Atrioventricular Septal Defect.

OBJECTIVE: Trisomy 21 is associated with poor weight gain and atrioventricular septal defects. The impact of atrioventricular septal defects on weight gain in the setting of Trisomy 21 has not previously been described in the recent era. This study aimed to determine if such an association is present. DESIGN: Patients with Trisomy 21 with and without atrioventricular septal defects were identified. Clinical, surgical, and postoperative data were collected were for these patients and then compared between patients. Specifically, weight for age z-scores were compared at various time points in a univariate and multivariate fashion. Effect of timing of surgery in those with an atrioventricular septal defect was also studied. RESULTS: A total of 86 patients were identified, 42 with an atrioventricular septal defect. There was a difference in weight for age z-scores between patients with and without atrioventricular septal defects only at 2 months (P value .038) and 6 months (P value .003) of age. This persisted after multivariate regression which demonstrated atrioventricular septal defects as an independent risk factor. There was no difference noted in weight at 2 years of age in patients undergoing atrioventricular septal defect repair before and 150 days of life. CONCLUSION: There was a statistically significant, but not clinically relevant, difference in weight between the patients with Trisomy 21 with and without atrioventricular septal defects in our cohort. Those with atrioventricular septal defects required more nutritional intervention, such as gastrostomy tube placement. Timing of repair did not alter outcomes at midterm follow-up.

A case series of patients with cor triatriatum dexter: unique cause of neonatal cyanosis.

Cor triatriatum dexter is a rare congenital heart defect that can lead to cyanosis in a newborn with an otherwise normal exam. The initial evaluation of these patients typically focuses on searching for a pulmonary etiology for arterial desaturation, which often leads to a negative work up. When cardiac evaluation is performed, it may be challenging because the heart lesion can be difficult to visualize on an echocardiogram. The diagnosis requires a high index of suspicion and thorough echocardiographic imaging. Once diagnosed, surgical repair can alleviate the shunt created by the defect. This case series describes all patients (3) with cor triatriatum dexter seen at Children's Hospital of Wisconsin from 2000 to 2013.

An institutional approach to interventional strategies for complete vascular occlusions.

Complete vascular occlusions are rare but potentially lethal. Reports on transcatheter therapy are limited to solitary case reports. The study was conducted as a single-center retrospective chart review. Between January 2003 and December 2009, 26 patients underwent cardiac catheterizations for either a known complete thoracic vascular occlusion or for incidental complete vascular occlusion that was noted during cardiac catheterization. Procedural technique, risk factors, and outcomes are reviewed. Median age at the time of diagnosis was 13.3 years (range 2 months to 54 years). In 6 of 26 (23%) patients, the vascular occlusion was of acute onset. Ninety-two percent of patients had at least 1 known risk factor for vascular occlusion, whereas 54% of patients had ≥ 2 risk factors. Successful rehabilitation was achieved in 19 patients, with direct catheter and/or wire manipulation being used to cross the occluded vessel in 15 (75%) patients, radiofrequency (RF) perforation in 3 patients, and perforation with Brockenbrough needle in 1 patient. Subsequent techniques included AngioJet (n = 2), balloon angioplasty and/or stent implantation (n = 18), and adjuvant local administration of recombinant tissue-plasminogen activator (n = 3). Reinterventions were required in 5 patients, and 8 patients died during the study period from causes unrelated to the catheterization procedure(s). Median follow-up of patients after successful recanalization was 12.6 months (range 1 day to 64 months), and the median duration of survival free from reintervention was 11.8 months (range 1 day to 64 months). In most patients, risk factors can be identified that are associated with the occurrence of a complete vascular occlusion. Different treatment strategies are used in patients having chronic compared with acute occlusions. Residual vascular lesions (hypoplasia or stenosis) are often associated with occurrence of reobstructions and should therefore be treated to prevent such an occurrence. Postprocedural anticoagulation is important in maintaining vascular patency.

Daily ambulatory activity levels in idiopathic Parkinson disease.

Patients with Parkinson disease (PD) may have decreased physical activity due to motor deficits. We recently validated the reliability of step activity monitors (SAMs) to accurately count steps in PD, and we wished to use them to evaluate the impact of disease severity on home activity levels in PD. Twenty-six subjects with PD (Hoehn and Yahr disease stage 2-4) were recruited to participate in a study of activity levels over 48 hours. Ability to achieve 95% device accuracy was an entry requirement. A Unified Parkinson Disease Rating Scale (UPDRS) evaluation was performed on all subjects, subjects were monitored for 48 hours, and total number of steps per day and maximum steps taken per hour were calculated. Out of 26 subjects, 25 met entry requirements. We calculated the number of steps taken per day, as well as maximal activity levels, and correlated these with UPDRS total score, the activity of daily living subscale, and the UPDRS motor function subscale off and on medication (all p < 0.01). Transition from Hoehn and Yahr stage 2 to stage 3 was associated with a decline in functional mobility (p < 0.005). A microprocessor-linked SAM accurately counted steps in subjects with PD. The number of steps taken correlated highly with disease severity. SAMs may be useful outcome measures in PD.