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The purpose of this study was to investigate the effect of a biopsy center-a dedicated space with a dedicated ultrasound machine and technologist, staffed daily by a radiologist responsible for performing ultrasound-guided procedures only-on the rate of non-diagnostic or unsatisfactory thyroid fine-needle aspiration (FNA).Three radiologists performed FNA on 1200 nodules in 998 patients between September 2010 and November 2015. We compared rates of nondiagnostic or unsatisfactory FNA before and after implementation of a biopsy center in September 2014 as part of a quality improvement initiative. Before the establishment of our biopsy center, ultrasound-guided procedures were scheduled between diagnostic studies in the main ultrasound department and were performed by a radiologist responsible for both. Multivariate logistic regression analysis was performed to assess the effect of the biopsy center on the odds of obtaining an adequate sample.Rates of nondiagnostic or unsatisfactory FNA decreased significantly from 15.1% to 8.5% (p0.001) after implementation of the biopsy center. The odds of obtaining an adequate sample were higher in the biopsy center (odds ratio, 2.07; 95% CI, 1.43-3.01), even after adjusting for patient age, nodule size, the radiologist performing the procedure, and time over the study period.The implementation of a biopsy center was associated with significantly lower rates of nondiagnostic or unsatisfactory thyroid FNA, suggesting target rates of 10% or lower are achievable with quality improvement measures.

Introduction: The purpose of this study was to determine the variety and prevalence of renal and non-renal abnormalities detected on multidetector computed tomography (MDCT) that precluded patients from donating a kidney.Methods: Institutional review board approval was obtained and the requirement for informed consent was waived. A retrospective, single-centre review of 701 patients (444 female, 257 male; age range 18–86 years; mean age 43.2±11.9 years) that underwent renal donor protocol MDCT was conducted. A systematic review of the CT report, records from multidisciplinary renal transplantation rounds, and electronic medical records was performed to determine which patients were approved or declined as live renal donors. If declined as a donor, CT-identified reasons were categorized as abnormalities of renal vasculature, renal parenchyma, collecting system, or extra-renal.Results: A total of 81 patients were excluded as renal donors on the basis of CT findings. Abnormalities of the collecting system accounted for the most frequent cause of exclusion (n=41), with asymptomatic renal calculi being detected in 39 patients. Complex vascular anatomy and vascular abnormalities resulted in the exclusion of 29 patients. Supernumerary arteries and early arterial branching resulted in the exclusion of 20 patients, while renal vein anomalies leading to exclusion were uncommon (n=2). Abnormalities of renal parenchyma resulted in the exclusion of nine patients. Three patients were diagnosed with autosomal dominant polycystic kidney disease, two patients had renal cell carcinoma, and two patients had areas of cortical scarring. A complex cystic lesion requiring surveillance imaging was encountered in one patient and a large area of renal infarction related to prior adrenalectomy was demonstrated in one patient. Extra-renal abnormalities leading to exclusion were limited to two patients with pulmonary nodules.Conclusions: MDCT plays a critical role in the preoperative assessment of potential renal donors by identifying contraindications to donor nephrectomy and providing accurate vascular mapping. This study is anticipated to be informative for those involved in the workup of potential living renal donors by quantifying the incidence and reasons for donor exclusion identified on CT.

A major reason for poor long-term kidney transplant outcomes is the development of chronic allograft injury, characterized by interstitial fibrosis and tubular atrophy. Currently, an invasive biopsy that samples only 1% of the kidney is the gold standard for detecting kidney allograft fibrosis. We report the use of magnetic resonance elastography (MRE) to quantify tissue stiffness as a noninvasive and whole-kidney measurement tool of allograft fibrosis in a kidney transplant patient at 2 time points. The MRE whole-kidney stiffness values reflected the changes in fibrosis of the kidney allograft as assessed by histologic examination. To our knowledge, this technique is the first observation of change over time in MRE-derived whole-kidney stiffness in an allograft that is consistent with changes in histology-derived fibrosis scores in a single patient.

Fibrosis is a major cause of kidney allograft injury. Currently, the only means of assessing allograft fibrosis is by biopsy, an invasive procedure that samples1% of the kidney. We examined whether magnetic resonance elastography, an imaging-based measure of organ stiffness, could noninvasively estimate allograft fibrosis and predict progression of allograft dysfunction.Kidney allograft recipients1 year post-transplant undergoing an allograft biopsy first underwent free-breathing, flow-compensated magnetic resonance elastography on a 3.0-T magnetic resonance imaging scanner. Each patient had serial eGFR measurements after the elastography scan for a follow-up period of up to 1 year. The mean stiffness value of the kidney allograft was compared with both the histopathologic Banff fibrosis score and the rate of eGFR change during the follow-up period.Sixteen patients who underwent magnetic resonance elastography and biopsy were studied (mean age: 54±9 years old). Whole-kidney mean stiffness ranged between 3.5 and 7.3 kPa. Whole-kidney stiffness correlated with biopsy-derived Banff fibrosis score (Spearman rho =0.67;Given the limitations of allograft biopsy, our pilot study suggests the potential for magnetic resonance elastography as a novel noninvasive measure of whole-allograft fibrosis burden that may predict future changes in kidney function. Future studies exploring the utility and accuracy of magnetic resonance elastography are needed.

Clear cell tubulopapillary renal cell carcinoma (CCTPRCC) is a recently described, low-grade subtype of renal cancer. We determined if imaging features could be used to distinguish early-stage CCTPRCC from stage-matched clear cell RCC (ccRCC) and papillary RCC (pRCC). This IRB-approved retrospective study included 54 stage T1a patients with pathologically confirmed CCTPRCC (n = 18), ccRCC (n = 18), and pRCC (n = 18). CT (n = 48) and MRI (n = 27) exams were reviewed and imaging features compared. Continuous variables were evaluated using ANOVA and Tukey’s multiple comparison tests. Categorical variables were compared using Chi-square test or Fisher’s exact test. Compared to pRCC, CCTPRCC had a lower mean attenuation value on unenhanced CT (p

Introduction Thrombocytosis is common following elective splenectomy and major trauma. However, little is known about the in-hospital course of platelet count (PC) and incidence of thrombocytosis after splenic trauma. Extreme thrombocytosis (PC > 1000 × 10 9 ) is associated with increased risk of venous thromboembolism (VTE) in primary thrombocytosis leading to the use of acetylsalicylic acid (ASA) for risk reduction, but the need for this agent in splenic trauma is undefined. Methods Retrospective cohort study of all patients with splenic trauma between April 1, 2010 and March 31, 2014. The in-hospital course of PC was assessed based on splenic injury management type. The association of management type with thrombocytosis was evaluated using a multivariable logistic regression model adjusting for potential confounders. The association of thrombocytosis, extreme thrombocytosis, and ASA use for the outcome of VTE was explored. Results 156 patients were eligible, PC initially increased in all patients with the highest peak after total splenectomy. The incidence of thrombocytosis was 41.0% (64/156). Thrombocytosis was more likely following splenectomy compared with spleen preserving strategies independent of length of stay, injury grade, ISS, age and transfusion (OR 7.58, 95% CI: 2.26–25.45). Splenectomy was associated with extreme thrombocytosis (OR 10.39, 95% CI: 3.59–30.07). Conclusions Thrombocytosis in splenic trauma is more likely after splenectomy than with spleen preserving strategies. Splenectomy is associated with extreme thrombocytosis. There was insufficient data in our study to determine the use of ASA as primary prevention of VTE after splenic trauma.

The purpose of the study was to determine if the strain phase of an MR defecography (MRD) protocol is redundant and can be eliminated without a loss of diagnostic information. Institutional review board approval was obtained and the requirement for informed consent was waived. A retrospective single-center review of 80 MRD examinations (68 female, 12 male, mean age 55 years old) was conducted. Two radiologists blinded to patient information evaluated in consensus the strain and evacuation phases separately and in a random order. Each phase was assessed for the presence and degree of posterior compartment descent, cystocele, urethral hypermobility, uterovaginal prolapse, rectocele, rectal intussusception, and enterocele. The degree of pelvic floor descent was compared using a paired t test and McNemar’s test was used to compare the proportion of abnormal findings. The evacuation phase identified all abnormalities identified on the strain phase and also identified both additional and more pronounced abnormalities, including an additional 34 cystoceles, 20 cases of urethral hypermobility, 13 uterovaginal prolapses, 36 rectoceles, 5 rectal intussusceptions, and 6 enteroceles (all p

A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in ∼1% of MR cases screened (N = 1,410). No variants were identified in the autism sample (N = 401). Most of these variants occur within a trinucleotide repeat region and result in change in number of alanine or glycine residues within the repeat stretches. We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay. © 2006 Wiley-Liss, Inc.

Purpose The purpose of this study was to explore Canadian radiology residents' and fellows' understanding, attitudes, opinions, and preferences toward peer review. Methods An Internet-based anonymous questionnaire designed to understand one's familiarity, attitudes, opinions, and preferences toward peer review was distributed to radiology residents and fellows across Canada. Data were analyzed using descriptive statistics, and answers were stratified by level of training. Results A total of 136 trainees responded to the survey with 92 completed survey responses available for descriptive statistics. Approximately half of respondents are familiar with peer review (49%), and 39% of trainees are involved in peer review. Most respondents (92%) expressed an interest in learning more about peer review; believe that it should be incorporated into the residency training curriculum (86%), be mandatory (72%), and that current participation will increase odds of future participation (91%). Most trainees (80%) are comfortable advising one another about errors, but less comfortable advising staff (21%). Conclusions Residents and fellows welcome the opportunity to learn more about peer review and believe it should be incorporated into the residency training curriculum. Understanding the attitudes and perceptions held by trainees regarding peer review is important, as a means to optimize education and maximize current and future participation in peer review.

Background:Rett syndrome (RTT) is a severe neurodevelopmental disorder of girls, caused by mutations in the X-linked MECP2 gene. Worldwide recognition of the RTT clinical phenotype in the early 1980's allowed many cases to be diagnosed, and established RTT as one of the most common mental retardation syndromes in females. The years since then led to a refinement of the phenotype and the recent elaboration of Revised Diagnostic Criteria (RDC). Here, we study the impact of the presence versus the absence of the use of diagnostic criteria from the RDC to make a diagnosis of RTT on MECP2 mutation detection in Canadian patients diagnosed and suspected of having RTT.Methods:Using dHPLC followed by sequencing in all exons of the MECP2 gene, we compared mutation detection in a historic cohort of 35 patients diagnosed with RTT without the use of specific diagnostic criteria to a separate more recent group of 101 patients included on the basis of strict fulfillment of the RDC.Results:The MECP2 mutation detection rate was much higher in subjects diagnosed using a strict adherence to the RDC (20% vs. 72%).Conclusions:These results suggest that clinical diagnostic procedures significantly influence the rate of mutation detection in RTT, and more generally emphasize the importance of diagnostic tools in the assessment of neurobehavioral syndromes.

Myopathies with autophagic vacuoles with sarcolemmal features (MAVSF) are a group of skeletal muscle diseases exhibiting autophagic vacuolation of myofibers. The vacuoles have membranes of mixed sarcolemmal, lysosomal, and autophagosomal origin. They contain partially degraded cell components including proteins, glycogen, membrane whorls, and organelles.1 The two most common MAVSF are Danon disease and X-linked myopathy with excessive autophagy (XMEA). Danon disease is caused by mutations in the LAMP2B isoform of the lysosome-associated membrane protein-2 ( LAMP2 ) gene.2 LAMP2B may play a role in approaching lysosomes to merge with autophagosomes.1 The genes for XMEA and the other MAVSF are unknown. We previously mapped the XMEA gene to chromosomal band Xq28, one of the most gene-rich regions of the genome, in a 4.64 Mb locus containing over 110 genes.3 We now refine this locus to 0.58 Mb containing only six genes. XMEA is inherited recessively, affecting boys and sparing carrier females. Onset is between ages 6 and 18 years with weakness and gradual wasting of the proximal muscles of the lower extremities. Other skeletal muscle groups are progressively affected including the upper limb girdle and distal muscles. Patients are wheelchair-bound in their 50s, and lifespan appears to be shortened due to respiratory muscle involvement. Considerable variation from this clinical picture can be seen, with some patients exhibiting extremely mild and sometimes no weakness or wasting (see below). The central and …

X-linked myopathy with excessive autophagy (XMEA) (MIM 310440) is an X-linked recessive boyhood-onset disorder of skeletal muscle with a slowly progressive course toward wasting of proximal muscles of the lower extremities and wheelchair dependency by the fifth decade of life. Involvement of distal leg muscles and upper extremities is clinically evident late in the disease.1–4 Skeletal muscle pathology is characterized by a constellation of rare and unique features. Autophagic vacuoles containing cellular debris are present in the sarcoplasm, and at the sarcolemma extruding their contents to the extracellular space. Myofibers containing vacuoles have multiple layers of basement membrane. Intense calcium accumulation is seen at the myofiber periphery, in the absence of necrosis. Extensive deposition of complement membrane attack complex (MAC) is present at the myofiber surface, without resultant cell lysis. Finally, class I major histocompatibility complex is expressed, despite the absence of inflammation.1–4 Nerve conduction studies (NCS) are normal but …