A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: expanding the V in VACTERL association.

We report on the association of renal agenesis, renal arteriovenous fistulae, fibromuscular dysplasia and vertebral body anomaly in a young female patient with renovascular hypertension. We believe these vertebral and vascular anomalies can be included under the "V" of the VACTERL association; expanding the vascular spectrum of this complex disorder.

Mechanical preconditioning enables electrophysiologic coupling of skeletal myoblast cells to myocardium.

Objective: The effect of mechanical preconditioning on skeletal myoblasts in engineered tissue constructs was investigated to resolve issues associated with conduction block between skeletal myoblast cells and cardiomyocytes.

Methods: Murine skeletal myoblasts were used to generate engineered tissue constructs with or without application of mechanical strain. After in vitro myotube formation, engineered tissue constructs were co-cultured for 6 days with viable embryonic heart slices.

The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects.

We sought to determine whether neural stem cells (NSCs) can be isolated from the amniotic fluid in the setting of neural tube defects (NTDs), as a prerequisite for eventual autologous perinatal therapies. Pregnant Sprague-Dawley dams (n=62) were divided into experimental (n=42) and control (n=20) groups, depending on prenatal exposure to retinoic acid for the induction of fetal NTDs. Animals were killed before term for analysis (n=685 fetuses).

Surgical technical performance scores are predictors of late mortality and unplanned reinterventions in infants after cardiac surgery.

Objective: We have previously shown that surgical Technical Performance Scores (TPS) are important predictors of early postoperative morbidity across a wide spectrum of procedures and that intraoperative recognition and intervention of residual defects resulted in improved outcomes. We hypothesized that these scores would also be important predictors of midterm outcomes.

Methods: Neonates and infants aged younger 6 months were prospectively followed from the index surgery for a minimum of 1 year.

Gross hemoglobinuria and oliguria are common transient complications of sclerotherapy for venous malformations: review of 475 procedures.

Objective: The purpose of this article is to study the incidence, risk factors, and treatment of gross hemoglobinuria and oliguria following sclerotherapy for venous malformations.

Materials And Methods: The clinical records and imaging studies of 131 patients with venous malformations (57 male and 74 female patients; age range, 2-58 years) who underwent sclerotherapy at our institution between July 1993 and August 2007 were reviewed. Demographic data, the location and estimated size of the malformation, the type and dose of the sclerosing agents, development of postprocedural hemoglobinuria and oliguria, and the treatment given were documented and analyzed.

Case of infantile onset spinocerebellar ataxia type 5.

Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood.

A βPIX-PAK2 complex confers protection against Scrib-dependent and cadherin-mediated apoptosis.

Background: During epithelial morphogenesis, a complex comprising the βPIX (PAK-interacting exchange factor β) and class I PAKs (p21-activated kinases) is recruited to adherens junctions. Scrib, the mammalian ortholog of the Drosophila polarity determinant and tumor suppressor Scribble, binds βPIX directly. Scrib is also targeted to adherens junctions by E-cadherin, where Scrib strengthens cadherin-mediated cell-cell adhesion.

Hormone therapy increases risk of ulcerative colitis but not Crohn's disease.

Background & Aims: Estrogen has been proposed to modulate gut inflammation through an effect on estrogen receptors found on gastrointestinal epithelial and immune cells. The role of postmenopausal hormone therapy on risk of Crohn's disease (CD) and ulcerative colitis (UC) is unclear.

Methods: We conducted a prospective cohort study of 108,844 postmenopausal US women (median age, 54 years) enrolled in 1976 in the Nurses' Health Study without a prior history of CD or UC.

School functioning and chronic tension headaches in adolescents: improvement only after multidisciplinary evaluation.

Pediatric patients with chronic tension-type headaches often experience significant school impairment. Although some improve after treatment with a neurologist, many require more comprehensive treatment. The authors examined whether school functioning and attendance improved after a multidisciplinary evaluation focusing on a return to functioning despite headaches.

Prospective association of common eating disorders and adverse outcomes.

Objective: Anorexia nervosa and bulimia nervosa (BN) are rare, but eating disorders not otherwise specified (EDNOS) are relatively common among female participants. Our objective was to evaluate whether BN and subtypes of EDNOS are predictive of developing adverse outcomes.

Methods: This study comprised a prospective analysis of 8594 female participants from the ongoing Growing Up Today Study.

Technical performance scores in congenital cardiac operations: a quality assessment initiative.

Background: Technical performance in congenital cardiac operations and its association with clinical outcomes was previously examined in infants and neonates. The purpose of this study was the development and implementation of a system for measuring technical performance in the majority of congenital cardiac operations to be used as a surgeon's self-assessment tool.

Methods: Using the methodologic framework piloted at our institution, measures of technical performance were created for more than 90% of all congenital cardiac operations.

Meta-analysis of bacterial meningitis score validation studies.

Objective: The Bacterial Meningitis Score, a derived and validated clinical decision rule, identifies children with cerebrospinal fluid (CSF) pleocytosis who are at very low risk of bacterial meningitis. Low-risk features include the following: negative CSF Gram stain, CSF absolute neutrophil count (ANC) <1000 cells/μl, CSF protein <80 mg/dl, peripheral blood ANC <10 000 cells/μl and no seizure at or prior to initial presentation. The study objective of the present work was to calculate the performance of the Bacterial Meningitis Score by performing a meta-analysis of all published validation studies.

Common hippocampal structural and functional changes in migraine.

The hippocampus is classically involved in memory consolidation, spatial navigation and is involved in the stress response. Migraine is an episodic disorder characterized by intermittent attacks with a number of physiological and emotional stressors associated with or provoking each attack. Given that migraine attacks can be viewed as repeated stressors, alterations in hippocampal function and structure may play an important role in migraine pathophysiology.

The role of costimulatory molecules in directing the functional differentiation of alloreactive T helper cells.

Costimulatory molecules are a heterogenous group of cell surface molecules that act to amplify or counteract the initial activating signals provided to T cells from the T cell receptor following its interaction with an antigen/major histocompatibility complex, thereby influencing T cell differentiation and fate. Although costimulation was previously thought to be indispensable for T cell activation at all stages of development, it is now known that the requirements for costimulation, and the costimulatory molecules involved, vary according to the stage of T cell differentiation. The ability to influence T cell fate is of paramount interest in the field of transplantation as we seek therapeutic options that inhibit detrimental alloimmune responses whilst simultaneously promoting allograft tolerance.

Left ventricular remodeling and improvement in diastolic function after balloon aortic valvuloplasty for congenital aortic stenosis.

Background: In congenital aortic stenosis, chronic pressure load has detrimental effects on left ventricular (LV) systolic and diastolic function. Reduction in LV pressure load with balloon aortic valvuloplasty (BAVP) may improve diastolic function.

Methods And Results: Echocardiographic and catheterization data for 25 consecutive patients undergoing BAVP for congenital aortic stenosis were retrospectively analyzed.

Recurrent atrioventricular groove intramuscular arteriovenous malformation.

A 17-year-old patient presented with a recurrent right atrioventricular (AV) groove vascular tumor. The tumor was resected en bloc, including the AV groove extending into the right ventricle (RV) and tricuspid valve. The AV groove and tricuspid valve required extensive reconstruction.

A stable pattern of EEG spectral coherence distinguishes children with autism from neuro-typical controls - a large case control study.

Background: The autism rate has recently increased to 1 in 100 children. Genetic studies demonstrate poorly understood complexity. Environmental factors apparently also play a role.

Variation in computed tomography radiation dose in community hospitals.

Purpose: Concerns abound regarding the radiation dose administered to children during trauma evaluations. It is important to minimize the radiation dose administered when a computed tomographic (CT) scan is performed. This study was carried out to determine the radiation dose delivered during trauma abdominal/pelvic CT scans performed in community hospitals.

Risk factors for small bowel bacterial overgrowth and diagnostic yield of duodenal aspirates in children with intestinal failure: a retrospective review.

Background: Children with intestinal failure (IF) are at risk for small bowel bacterial overgrowth (SBBO) because of anatomical and other factors. We sought to identify risk factors for SBBO confirmed by quantitative duodenal culture.

Methods: A single-center retrospective record review of children who had undergone endoscopic evaluation for SBBO (defined as bacterial growth in duodenal fluid of >10(5) colony-forming unit per mL) was performed.

Prenatal tracheal reconstruction with a hybrid amniotic mesenchymal stem cells-engineered construct derived from decellularized airway.

Purpose: This study was aimed at examining an airway construct engineered from autologous amniotic mesenchymal stem cells (aMSCs) and a xenologous decellularized airway scaffold as a means for tracheal repair.

Methods: Fetal lambs (N = 13) with a tracheal defect were divided into 2 groups. One group (acellular, n = 6) was repaired with a decellularized leporine tracheal segment.

Effect of sunitinib on functional reproductive outcome in a rabbit model.

Objective: To determine the effect of sunitinib (Sutent; SU11248; Pfizer), a US Food and Drug Administration-approved receptor tyrosine kinase inhibitor previously shown to reduce de novo pelvic adhesion formation, on reproductive function after surgical uterine abrasion in a rabbit model.

Design: Randomized placebo-controlled study.

Setting: Large animal facility within an academic hospital.

Modeling noninvasive neurostimulation in epilepsy as stochastic interference in brain networks.

Noninvasive brain stimulation is one of very few potential therapies for medically refractory epilepsy. However, its efficacy remains suboptimal and its therapeutic value has not been consistently assessed. This is in part due to the nonoptimized spatio-temporal application of stimulation protocols for seizure prevention or arrest, and incomplete knowledge of the neurodynamics of seizure evolution.

Modeling the encephalopathy of prematurity in animals: the important role of translational research.

Translational research in preterm brain injury depends upon the delineation of the human neuropathology in order that animal models faithfully reiterate it, thereby ensuring direct relevance to the human condition. The major substrate of human preterm brain injury is the encephalopathy of prematurity that is characterized by gray and white matter lesions reflecting combined acquired insults, altered developmental trajectories, and reparative phenomena. Here we highlight the key features of human preterm brain development and the encephalopathy of prematurity that are critical for modeling in animals.

Cerebrofacial venous anomalies, sinus pericranii, ocular abnormalities and developmental delay.

The clinical implications of venous cerebrovascular maldevelopment remain poorly understood. We report on the association of cerebrofacial venous anomalies (including sinus pericranii), ocular abnormalities and mild developmental delay in two children. In addition, one child had a seizure disorder.