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Any country wide epidemiologic, clinical, genetic study of Usher malady throughout The japanese.
Accuracy was defined as mean absolute error less than 6°. Reliability was calculated by means of intraclass correlation coefficient (ICC). RESULTS. read more Pelvic radiographs of 40 children (324 hips) were included. The mean age was 23.7 months (range, 4-96 months) and mean acetabular index was 24.2° (range, 8-50°). The alternative method was associated with mean absolute error of 2.50°, which is significantly below the threshold of 6° (t less then 0.001). Intrarater reliability for the traditional method was high (ICC, 0.81) and for the alternative method was very high (ICC, 0.92). Interrater reliability for the traditional method was high (ICC, 0.89) and for the alternative method was very high (ICC, 0.91). CONCLUSION. Measuring the acetabular index using the alternative method has very high accuracy and intrarater and interrater reliability.OBJECTIVE. The purpose of this study was to investigate whether early kinetic parameters derived from ultrafast dynamic contrast-enhanced MRI (DCE-MRI) using compressed sensing are associated with prognostic factors for breast cancer. MATERIALS AND METHODS. We evaluated 201 consecutive women (mean age, 54.6 years) with breast cancer (168 invasive, 33 ductal carcinoma in situ) who underwent both ultrafast DCE-MRI using compressed sensing (temporal resolution, 4.7 seconds; spatial resolution, 0.8 × 1.1 × 0.9 mm) and surgery between 2018 and 2019. Early kinetic parameters (time to enhancement [TTE] and maximum slope [MS]) were measured in breast lesions by two radiologists using a software program and were correlated with histopathologic prognostic factors. The Mann-Whitney U test and linear regression analysis were used. RESULTS. The median TTE and MS values for breast cancer were 11.9 seconds and 7.7%/s, respectively. The median MS was significantly larger in invasive cancer lesions than in ductal carcinoma in situ lesions (8.4%/s vs 4.7%/s, p 2 cm) (p = .048) and estrogen receptor-negative status (p less then .001) were significantly associated with a shorter TTE. A higher histologic grade (grade 3) (p = .01) was significantly associated with a larger MS. We observed excellent interobserver agreement between two readers in the measurements of TTE and MS (intraclass correlation coefficients, 0.943 and 0.890, respectively). CONCLUSION. Ultrafast MRI-derived early enhancement parameters, such as TTE and MS, are associated with histopathologic prognostic factors in women with breast cancer.OBJECTIVE. The Fontan procedure has significantly improved the survival in children with a functional single ventricle, but it is associated with chronically elevated systemic venous pressure that leads to multisystemic complications. Imaging plays an important role in assessing these complications and guiding management. The pathophysiology, imaging modalities, and current surveillance recommendations are discussed and illustrated. CONCLUSION. Significant improvement in survival of patients with Fontan circulation is associated with ongoing cardiac and extracardiac comorbidities and multisystemic complications. The liver and intestines are particularly vulnerable to damage. In addition, this patient population has been shown to be at increased risk of certain malignancies such as hepatocellular carcinoma and neuroendocrine tumors. Familiarity with imaging findings of Fontan-associated liver disease and other abdominal complications of the Fontan circulation is essential for radiologists because we are likely to encounter these patients in our general practice.OBJECTIVE. The purpose of this article is to review the clinical manifestations, endocrine tumors types, and multimodality diagnostic tools available to physicians involved in the management of patients with multiple endocrine neoplasia (MEN) syndrome, in addition to discussing relevant imaging findings and appropriate imaging follow-up. CONCLUSION. Thorough knowledge of the spectrum of tumors associated with MEN gene mutations aids in the screening, diagnostic workup, and posttreatment monitoring of patients with MEN-related gene mutations.OBJECTIVE. This systematic review and meta-analysis evaluates the diagnostic accuracy of MRI for differentiating malignant (MPNSTs) from benign peripheral nerve sheath tumors (BPNSTs). MATERIALS AND METHODS. A systematic review of MEDLINE, Embase, Scopus, the Cochrane Library, and the gray literature from inception to December 2019 was performed. Original articles that involved at least 10 patients and that evaluated the accuracy of MRI for detecting MPNSTs were included. Two reviewers independently extracted clinical and radiologic data from included articles to calculate sensitivity, specificity, PPV, NPV, and accuracy. A meta-analysis was performed using a bivariate mixed-effects regression model. Risk of bias was evaluated using QUADAS-2. RESULTS. Fifteen studies involving 798 lesions (252 MPNSTs and 546 BPNSTs) were included in the analysis. Pooled and weighted sensitivity, specificity, and AUC values for MRI in detecting MPNSTs were 68% (95% CI, 52-80%), 93% (95% CI, 85-97%), and 0.89 (95% CI, 0.86-0.92) when using feature combination and 88% (95% CI, 74-95%), 94% (95% CI, 89-96%), and 0.97 (95% CI, 0.95-0.98) using diffusion restriction with or without feature combination. Subgroup analysis, such as patients with neurofibromatosis type 1 (NF1) versus those without NF1, could not be performed because of insufficient data. Risk of bias was predominantly high or unclear for patient selection, mixed for index test, low for reference standard, and unclear for flow and timing. CONCLUSION. Combining features such as diffusion restriction optimizes the diagnostic accuracy of MRI for detecting MPNSTs. However, limitations in the literature, including variability and risk of bias, necessitate additional methodologically rigorous studies to allow subgroup analysis and further evaluate the combination of clinical and MRI features for MPNST diagnosis.OBJECTIVE. The purpose of this study was to assess the incidence of pediatric skull fractures contacting cranial sutures in abusive versus accidental trauma. MATERIALS AND METHODS. A retrospective review was conducted of head CT studies performed for pediatric head trauma at a free-standing tertiary care children's hospital from 2012 to 2019. Statistical odds ratios were evaluated to assess the significance of skull fracture extension to sutures in abusive versus accidental injury. A two-proportion Z-test was used to determine the statistical significance of suture type contacted by skull fractures in accidental versus abusive injury. RESULTS. The records of 47 children with 57 abusive skull fractures and 47 children with 54 accidental skull fractures were evaluated. The patients were 1-36 months old. Fifty-one abusive skull fractures (89%) terminated in contact with a cranial suture; 35 of the 51 (69%) touched two or more sutures, and 12 touched three or more sutures. Forty-two of the 54 (78%) accidental skull fractures contacted a suture; only 3 of the 42 (7%) touched two sutures, and none touched more than two sutures (odds ratio, 28.4 [95% CI, 7.6-105.9]; p less then .001). In the abusive fractures, the suture most commonly contacted by a fracture line was the lambdoid (43%; p less then .04), followed by the sagittal (23%), coronal (21%), temporal-squamous (12%), and metopic (1%) sutures. There was no statistical difference in which suture was contacted by fracture lines in accidental cases. CONCLUSION. Skull fracture contacting cranial sutures is common in abusive and accidental pediatric head trauma. However, that a fracture contacts two or more cranial sutures is an imaging finding not previously described that has a significantly higher association with abusive than with accidental head injury.OBJECTIVE. The objectives of this study were to examine the performance of CT in the diagnosis of ischemic mesenteric laceration after blunt trauma and to assess the predictive value of various CT signs for this injury. MATERIALS AND METHODS. In this retrospective study, consecutive patients with bowel and mesenteric injury diagnosed by CT or surgery from January 2011 through December 2016 were analyzed. Two radiologists evaluated CT images for nine signs of bowel injury. The outcome evaluated was ischemic mesenteric laceration. Univariable analysis followed by logistic regression was performed. RESULTS. The study included 147 patients (96 men and 51 women; median age, 35 years; age range, 23-52 years). Thirty-three patients had surgically confirmed ischemic mesenteric lacerations. CT signs that correlated with ischemic mesenteric laceration were abdominal wall injury, mesenteric contusion, free fluid, segmental bowel hypoenhancement, and bowel hyperenhancement adjacent to a hypoenhancing segment. The regression model developed after inclusion of clinical variables identified two predictors segmental bowel hypoenhancement (adjusted odds ratio, 22.9 [95% CI, 7.9-66.2; p less then .001] for reviewer 1 and 20.7 [95% CI, 7.2-59.0; p less then .001] for reviewer 2) and abdominal wall injury (adjusted odds ratio, 5.26 [95% CI, 1.7-15.9; p = .003] for reviewer 1 and 5.3 [95% CI, 1.9-15.0; p = .002] for reviewer 2), which yielded an AUC of 0.87 for predicting injury. For reviewer 1 and reviewer 2, the sensitivities of CT in detecting the injury were 72.3% (95% CI, 54.5-86.7%) and 78.8% (95% CI, 61.0-91.0%), respectively, whereas the specificities were 94.7% (95% CI, 88.9-98.0%), and 92.1% (95% CI, 85.5-96.3%), respectively. CONCLUSION. CT has limited sensitivity but good specificity for detecting ischemic mesenteric laceration, with segmental bowel hypoenhancement considered the most predictive imaging sign.The repeated adaptation of oceanic threespine sticklebacks to fresh water has made it a premier organism to study parallel evolution. These small fish have multiple distinct ecotypes that display a wide range of diverse phenotypic traits. Ecotypes are easily crossed in the laboratory, and families are large and develop quickly enough for quantitative trait locus analyses, positioning the threespine stickleback as a versatile model organism to address a wide range of biological questions. Extensive genomic resources, including linkage maps, a high-quality reference genome, and developmental genetics tools have led to insights into the genomic basis of adaptation and the identification of genomic changes controlling traits in vertebrates. Recently, threespine sticklebacks have been used as a model system to identify the genomic basis of highly complex traits, such as behavior and host-microbiome and host-parasite interactions. We review the latest findings and new avenues of research that have led the threespine stickleback to be considered a supermodel of evolutionary genomics. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http//www.annualreviews.org/page/journal/pubdates for revised estimates.
Establishing research capacity in low- and middle-income countries (LMICs) is key for improving the outcomes of patients with hematologic diseases globally. Few studies have analyzed the contributions of LMICs to global hematology. The American Society of Hematology Meeting (ASH) is the largest international academic event where peer-reviewed contributions in our field are presented.

In this cross-sectional analysis, all abstracts accepted to ASH 2018 selected for a poster or oral presentation were reviewed. Those that had a contributing author from an LMIC were identified. The proportion of LMIC abstracts across categories was analyzed. Country of origin, high-income country participation, the presence of a conflict of interest (COI), and sponsorship were determined.

From 4,871 abstracts reviewed, 506 had a contributing author from an LMIC (10.4%), with 277 (54.7%) contributions in partnership with a high-income country. LMIC-independent contributions corresponded to 19 of 1,026 oral abstracts (1.9%) and 209 of 3,845 posters (5.
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