Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the thyroid and uterus. She was initially diagnosed with atypical infantile myofibromatosis based on clinical and pathological findings. She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. This patient highlights the utility of WES as an early diagnostic tool in the investigation of patients with unusual presentations of rare diseases, thereby providing clinicians with accurate molecular diagnoses and the opportunity to tailor clinical management to improve patient care.

Radiographic features in a rare case of sphenoid sinus extramedullary hematopoeisis in sickle cell disease.

Sickle cell disease is a common hematologic disorder with some uncommon clinical manifestations. While there are an abundance of described disease manifestations of the head and neck, extramedullary hematopoesis within the paranasal sinuses is exceedingly rare. Here, we present a case of a young boy with known sickle cell disease who presented to hospital with headaches of new onset. Imaging demonstrated an expansile mass lesion occupying the sphenoid sinus and on biopsy was found to be active hematopoetic bone marrow. A description of the case and review of subtle but characteristic radiographic findings follow.

Head-to-head comparison of eight late gadolinium-enhanced cardiac MR (LGE CMR) sequences at 1.5 tesla: from bench to bedside.

PURPOSE: To compare-theoretically and experimentally-clinically available two-dimensional/three-dimensional (2D/3D), breathhold and non-breathhold, inversion-recovery (IR) gradient-echo (GRE) sequences used to differentiate between nonviable injured and normal myocardium with late gadolinium-enhanced techniques (IR-GRE2D sequence is used as a reference), and to evaluate their respective clinical benefit. MATERIALS AND METHODS: Six breathhold (2D-IR-GRE, 3D-IR-GRE, balanced steady-state free precession 2D-IR-bSSFP and 3D-IR-bSSFP, phase-sensitive 2D-PSIR-GRE, and 2D-PSIR-bSSFP) and two non-breathhold late gadolinium-enhanced techniques (single-shot 2D-ssbSSFP and 2D-PSIR-ssbSSFP) were consecutively performed in 32 coronary artery disease patients with chronic myocardial infarction. Qualitative assessment and manual planimetry were performed by two independent observers. Quantitative assessment was based on percentage signal intensity elevation between injured and normal myocardium and contrast-to-noise ratio. Theoretical simulations were compared with experimental measurements performed on phantoms with various concentrations of gadolinium. RESULTS: The 3D-IR-GRE image quality appeared better than the other 2D and 3D sequences, showing better delineation of complex nontransmural lesions, with significantly higher percentage signal intensity and contrast-to-noise ratio. PSIR techniques appeared more limited in differentiating sub-endocardial lesions and intracavity blood pool, but in all other cases were comparable to the other techniques. Single-shot PSIR-ssbSSFP appeared to be a valuable alternative technique when breathhold cannot be achieved. CONCLUSION: We recommend 3D-IR-GRE as the method of choice for late gadolinium-enhanced cardiac magnetic resonance imaging in clinical practice.

Gender and strain variations in left ventricular cardiac function and mass determined with magnetic resonance imaging at 7 tesla in adult mice.

OBJECTIVES: We sought to assess with magnetic resonance imaging (MRI) the influence of strain type and gender on left ventricular (LV) global function and mass in 3 inbred mouse strains with a normal cardiac phenotype. MATERIALS AND METHODS: A total of 30 mice from 3 inbred strains (C57BL/6, 29S2/SvPasCrl, and C3HFeJ) were studied on a 7.05-T MR scanner using ECG-triggered cine sequences. LV mass and volumes were calculated with inclusion and exclusion of papillary muscles (PMs) in the LV wall. RESULTS: Significant differences were found with strain and gender (P < 0.001), with strain-effect but no gender-effect for ejection fraction (EF), end-diastolic volume (EDV), and end-systolic volume (ESV). There were no differences in LV mass between strains but lower values in female mice except in the C3H strain. The exclusion of PMs led to the relative underestimation of EF (-6.1%) and of LV mass (-6.4 mg) and the relative overestimation of EDV (6.3 microL) and ESV (5.3 microL). Inter- and intraobserver reproducibility was better when PMs were included. CONCLUSION: The use of MRI demonstrates cardiac interstrain and gender-related phenotypic diversities that are essential factors to consider when building genomic databases and designing studies.

Concordance rate differences of 3 noninvasive imaging techniques to measure carotid stenosis in clinical routine practice: results of the CARMEDAS multicenter study.

BACKGROUND AND PURPOSE: To replace digital subtraction angiography (DSA) in carotid stenosis evaluation, noninvasive imaging techniques have to reach a high concordance rate. Our purpose is to compare the concordance rates of contrast-enhanced MR angiography (CEMRA) and CT angiography (CTA) with Doppler ultrasound (DUS) in clinical routine practice. METHODS: We evaluated prospectively with DUS, CEMRA, and CTA 150 patients suspected of carotid stenosis. The overall concordance rates of the 3 techniques were calculated for symptomatic stenosis > or =50% and > or =70%, for asymptomatic stenosis > or =60%, and for occlusion. For the carotid arteries treated by surgery (n=97), the results of each method and combined techniques were recorded, and misclassification rates were evaluated from surgical reports. RESULTS: The overall concordance rates of DUS-CEMRA, DUS-CTA, and CEMRA-CTA were not statistically different. However, the concordance rate of DUS-CEMRA (92.53%) was significantly higher than that for DUS-CTA (79.10%) in the surgical asymptomatic stenosis group (P=0.0258). CTA considered alone would misclassify the stenosis in a significant number of cases (11 of 64) in the surgical asymptomatic group compared with CEMRA (3 of 67) and DUS (1 of 66) (P=0.0186 versus MRA, P=0.0020 versus DUS). CONCLUSIONS: With the techniques as utilized in our study, the overall concordance rates of combined noninvasive methods are similar for measuring carotid stenosis in clinical routine practice, but in asymptomatic carotid stenosis, the decision making for surgery is significantly altered if DUS and CTA are considered in place of DUS and CEMRA.