The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency). But it also demonstrates that diligent phenotype characterization and classification is extremely helpful in uncovering the underlying genotype. We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide.

Background Shortages in radiology services are estimated to affect 3.5-4.7 billion people worldwide. Teleradiology is a potential means of alleviating this shortage. Objective This paper examines the practicality and sustainability of a pilot pediatric teleradiology project at the Khayelitsha District Hospital in sub-Saharan Africa. We analyze how this World Federation of Pediatric Imaging (WFPI) program fares against the global challenges described in the current literature facing these practice types. Materials and methods A teleradiology pilot was developed to provide coverage to the Khayelitsha District Hospital after the district pediatrician requested assistance in interpreting radiographs. This program utilized a network of WFPI volunteer pediatric radiologists, direct JPEG conversion of digital radiographic images, and an e-mail delivery system of images, referral requests and teleradiology opinion. Data were collected retrospectively from referral cards and JPEG images of radiographs, as well as from the volunteer officer database.Results A total of 555 referral cards and 1,106 radiographs were submitted for teleradiology opinion during the course of this pilot program; 74.6% of requests for image interpretation were chest radiographs and 14.2% of those were for the evaluation of tuberculosis. There were 40 volunteer teleradiologists from 17 countries; all spoke English, and 14 were bilingual (8 fluent in Spanish, 5 in Portuguese, and 1 in Italian). Conclusion Teleradiology is a viable option to alleviate radiologist shortages in underserved areas, but there are many challenges to designing an adequate teleradiology system. The WFPI pilot teleradiology program can be considered a successful one.

Ferumoxytol is an ultra-small superparamagnetic iron oxide (USPIO) particle that is FDA-approved for parenteral treatment of iron deficiency anemia in adults with chronic kidney disease. Because of the association between gadolinium-based contrast agents and nephrogenic systemic fibrosis in patients with severe chronic kidney disease, we sought to evaluate the diagnostic role of ferumoxytol-enhanced MR venography in children with chronic kidney disease. Twenty children underwent 22 high-resolution ferumoxytol-enhanced MR venography examinations at 3.0 T. High-resolution 3-D contrast-enhanced imaging was performed at a minimum of 3 time points following injection of ferumoxytol at a total dose of 4 mg/kg. Two blinded pediatric radiologists independently scored six named veins on ferumoxytol-enhanced MR venography examinations according to a three-point subjective score, where a score ≥2 was considered diagnostic. Additionally, all relevant venous structures in the included field of view were analyzed for occlusive or non-occlusive thrombosis, compression and presence of collaterals. All patients underwent ferumoxytol-enhanced MR venography successfully and without adverse event. The overall scores of the reviewing radiologists for all venous structures were 2.7-2.9. In all cases, the reviewers were confident basing their diagnoses on the ferumoxytol-enhanced MR venography findings. In 12 of 22 examinations, findings on follow-up imaging or invasive procedures were available to correlate with the findings on ferumoxytol-enhanced MR venography. There was complete concordance between the findings from follow-up imaging and invasive procedures with findings from ferumoxytol-enhanced MR venography. Ferumoxytol holds promise as a powerful alternative to gadolinium-based contrast agents for reliable, high-resolution MR venography in children with chronic kidney disease.

Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features.

Osteochondral lesions are acquired, potentially reversible injuries of the subchondral bone with or without associated articular cartilage involvement. Injury results in delamination and potential sequestration of the affected bone. Although an association with mechanical and traumatic factors has been established, the etiology remains poorly understood. These lesions commonly occur in the knee; articular surfaces of the elbow, ankle, hip, and shoulder are also affected. Osteochondral lesions are relatively common in children and adolescents, and the incidence is increasing. Prognosis of these lesions depends on stability, location, and size of the lesion.Imaging has an essential role in the diagnosis, staging, and management of osteochondral lesions. Many of these lesions are first diagnosed by plain film. MRI adds value by identifying unstable lesions that require surgical intervention. This review focuses on the clinical and imaging features of osteochondral lesions of the knee, elbow, and ankle. Imaging criteria for staging and management are also reviewed.