Effect of Blood Transfusion on Cerebral Hemodynamics and Vascular Topology Described by Computational Fluid Dynamics in Sickle Cell Disease Patients.

The main objective of this study was to demonstrate that computational fluid dynamics (CFD) modeling can be used to study the contribution of covert and overt vascular architecture to the risk for cerebrovascular disease in sickle cell disease (SCD) and to determine the mechanisms of response to therapy such as chronic red blood cell (cRBC) transfusions. We analyzed baseline (screening), pre-randomization and study exit magnetic resonance angiogram (MRA) images from 10 (5 each from the transfusion and observation arms) pediatric sickle SCD participants in the silent cerebral infarct transfusion (SIT) trial using CFD modeling. We reconstructed the intracranial portion of the internal carotid artery and branches and extracted the geometry using 3D Slicer.

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.

Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSβ0-thalassemia from Baylor College of Medicine and from the St. Jude Children's Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study.

Risk factors for abandonment of Wilms tumor therapy in Kenya.

Background: Survival from Wilms tumor (WT) in sub-Saharan Africa remains dismal as a result of on-therapy mortality and treatment abandonment. Review of patients diagnosed from 2008 to 2011 in our Kenyan Wilms Tumor Registry showed a loss to follow up (LTFU) rate approaching 50%. The purpose of this study was to trace those LTFU, estimate the survival rate, and identify risk factors for treatment abandonment.

Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.

Purpose: The NOG protein is a secretory antagonist of bone morphogenetic proteins (BMPs). Nog-/- mouse embryos demonstrate proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) compatible with the most common configuration of EA/TEF observed in humans. Four microdeletions that span the NOG locus at 17q22 have been described in human patients having EA/TEF.

The role of postoperative testosterone in repair of iatrogenic hypospadias in rabbits.

Introduction: Testosterone administered preoperatively in hypospadiac children increases phallic size and improves skin vascularity. We histologically evaluated the role of postoperative testosterone in tissue remodeling in an animal model.

Materials And Methods: Hypospadias was created in 18 rabbits and repaired with a preputial onlay graft.

Isolated infundibuloarterial inversion.

Isolated infundibuloarterial inversion is a rare conotruncal cardiac anomaly characterized by a leftward and posterior aortic valve in the face of ventriculoarterial concordance. It has previously been described only in cases associated with severe additional defects of substantial hemodynamic significance. We present a case of isolated infundibuloarterial inversion with a small, hemodynamically insignificant ventricular septal defect.

Bowel vaginoplasty in children: a retrospective review.

Background/purpose: There are numerous congenital genitourinary conditions that result in vaginal agenesis or atresia. Reconstruction presents a challenge to the surgeon who wishes long-term functional and cosmetic results with low morbidity. Historically, reconstruction has involved the use of skin grafts and nonoperative methods with less than ideal results.

Unenhanced limited CT of the abdomen in the diagnosis of appendicitis in children: comparison with sonography.

Objective: The purpose of this investigation is to determine the sensitivity, specificity, and accuracy of unenhanced limited CT of the abdomen in children with suspected appendicitis and compare these results with graded compression sonography.

Materials And Methods: Seventy-six children underwent unenhanced limited CT over a 11-month period for evaluation of suspected appendicitis. A historical cohort of 86 consecutive children who had undergone graded compression sonography was identified.

Pediatric renal masses: Wilms tumor and beyond.

A variety of pediatric renal masses may be differentiated from Wilms tumor on the basis of their clinical and imaging features. Wilms tumor is distinguished by vascular invasion and displacement of structures and is bilateral in approximately 10% of cases. Nephroblastomatosis occurs most often in neonates and is characterized by multiple bilateral subcapsular masses, often associated with Wilms tumors.

Appendicolith revealed on CT in children with suspected appendicitis: how specific is it in the diagnosis of appendicitis?

Objective: The purpose of this study was to determine the sensitivity, specificity, and positive and negative predictive values of a diagnosis of appendicitis when CT without enteric contrast material reveals an appendicolith in children with suspected appendicitis.

Materials And Methods: A retrospective review of children who underwent abdominal CT for suspected appendicitis over a 25-month period was performed to identify patients with an appendicolith. An age-matched group of patients examined for trauma served as controls.

Congenital dorsal penile curvature: a potential problem of the long phallus.

Purpose: We report the results of surgical correction of severe congenital dorsal penile curvature associated with a long slender phallus.

Materials And Methods: In the last 7 years we treated 16 boys with a mean age of 2 years 10 months who had severe dorsal penile curvature. The series included 5 patients with megameatus variant hypospadias and a full foreskin, 3 who presented with hypospadias and 8 who were referred when dorsal penile curvature was noticed by the family or primary physician.

Ureterocystoplasty: is it necessary to detubularize the distal ureter?

Purpose: The conventional technique for ureterocystoplasty includes complete mobilization and incision of the ureter. We describe a modified procedure in which the distal 3 cm. of ureter are left in place and intact.

The antral nipple sign of pyloric mucosal prolapse: endoscopic correlation of a new sonographic observation in patients with pyloric stenosis.

This study describes the antral nipple sign of pyloric mucosal prolapse, a newly delineated sonographic observation in patients with pyloric stenosis, correlates the endoscopic findings, and examines its prevalence and significance in 31 consecutive patients with pyloric stenosis. Fifty patients who did not have pyloric stenosis served as the control population. The antral nipple sign consists of visualization of prolapsed, hypertrophied pyloric mucosa protruding into the gastric antrum.

Atlanto-occipital subluxation in Down syndrome.

Atlanto-occipital subluxation (AOS) in individuals with Down syndrome is discussed using five new cases and nine patients previously presented in the literature. Although AOS is likely due to ligamentous laxity, it was associated with atlantoaxial instability in only two youngsters. Reducible C1-C2 rotary subluxation was present in a third.

Epidural hematoma of the newborn due to birth trauma.

Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving.