Autosomal dominant hypertension and brachydactyly regularly feature NVA, which is frequently bilateral. The early age at which NVA was identified suggests that the condition is primary. We suggest that NVA may be involved in the pathogenesis of this form of hypertension and perhaps essential hypertension as well. Further studies are necessary to address the question of causation.
Background Diffuse Intrinsic pontine gliomas (DIPGs) are lethal pediatric brain tumors. Presently, MRI is the mainstay of disease diagnosis and surveillance. We identify clinically significant computational features from MRI and create a prognostic machine learning model. Methods We isolated tumor volumes of T1-post contrast (T1) and T2-weighted (T2) MRIs from 177 treatment-naïve DIPG patients from an international cohort for model training and testing. The Quantitative Image Feature Pipeline and PyRadiomics was used for feature extraction. Ten-fold cross-validation of LASSO Cox regression selected optimal features to predict overall survival (OS) in the training dataset and tested in the independent testing dataset. We analyzed model performance using clinical variables (age at diagnosis and sex) only, radiomics only, and radiomics plus clinical variables. Results All selected features were intensity and texture-based on the wavelet filtered images (three T1 grey-level co-occurrence matrix (GLCM) texture features, T2 GLCM texture feature, and T2 first order-mean). This multivariable Cox model demonstrated a concordance of 0.68 [95% CI: 0.61-0.74] in the training dataset, significantly outperforming the clinical-only model (C=0.57 [95% CI: 0.49-0.64]). Adding clinical features to radiomics slightly improved performance (C=0.70 [95% CI: 0.64-0.77]). The combined radiomics and clinical model was validated in the independent testing dataset (C=0.59 [95% CI: 0.51-0.67], Noether’s test p=0.02). Conclusion In this international study, we demonstrate the use of radiomic signatures to create a machine learning model for DIPG prognostication. Standardized, quantitative approaches that objectively measure DIPG changes, including computational MRI evaluation, could offer new approaches to assessing tumor phenotype and serve a future role for optimizing clinical trial eligibility and tumor surveillance.
Hydatid disease is primarily a disease of sheep and cattle. Human beings are accidental hosts. We present a 32-year-old multigravida at 25 weeks of pregnancy in whom splenic and liver cysts were diagnosed by ultrasonography and magnetic resonance imaging (MRI). The splenic cyst was removed and a healthy baby was delivered vaginally at term.
In this study, it has been demonstrated that for the evaluation of fetal status, increased TBA levels in the mother and increased exposure time for the fetus to these increased values of TBA within the maternal circulation system help to predict increased risk of asphyxia in newborns to ICP mothers.
We examined a family with autosomal-dominant hypertension and brachydactyly from northeastern Turkey. The hypertension was defined as severe, resulting in stroke before age 50 years, featuring normal renin, aldosterone, and catecholamine responses, and did not appear to be salt-sensitive. The responsible gene resides on chromosome 12p. To determine which medications were most effective, we performed a prospective clinical trial. We studied 13 affected individuals in a randomized double-blind, cross-over trial including a beta-blocker (BBL), alpha-blocker (ABL), calcium channel blocker (CCB), converting enzyme inhibitor (CEI), and hydrochlorothiazide (HCT) and placebo (PLA). We then added moxonidine (MOX) and continued the trial for an additional period in a single-blind fashion. Each drug was given for four weeks with an option to double the dose after two weeks; each washout period comprised two weeks. Blood, 24-hour urine, and saliva were studied at the outset, and blood and urine samples were obtained at the end of each phase. Blood pressure (BP) and heart rate measurements were with the patient ambulatory at 24 hours. All regimens required doubled doses at two weeks. Beta blocker, CCB, CEI, and ABL lowered BP (6 to 10 mm Hg) and BP load compared to PLA, while HCT and MOX did not. Converting enzyme inhibitor and HCT increased plasma renin activity (PRA), while BBL lowered PRA. The 24-hour urine analysis indicated a high dietary salt intake with a low potassium and calcium intake. The salivary electrolytes showed similar sodium and potassium concentrations, while chloride values were significantly higher in affected than nonaffected subjects. Thus, this monogenic form of hypertension resembles nonsalt-sensitive essential hypertension in that BBL, CCB, CEI, and ABL were effective, while HCT was not. The BP reduction was similar to other single drug trials in essential hypertension. The high salivary chloride values suggest an additional intermediary phenotype that may be related to electrolyte transport. These results raise the possibility that an as yet unknown hypertensive mechanism is operative in these subjects.
BACKGROUND Clinicians and machine classifiers reliably diagnose pilocytic astrocytoma (PA) on magnetic resonance imaging (MRI) but less accurately distinguish medulloblastoma (MB) from ependymoma (EP). One strategy is to first rule out the most identifiable diagnosis. OBJECTIVE To hypothesize a sequential machine-learning classifier could improve diagnostic performance by mimicking a clinician's strategy of excluding PA before distinguishing MB from EP. METHODS We extracted 1800 total Image Biomarker Standardization Initiative (IBSI)-based features from T2- and gadolinium-enhanced T1-weighted images in a multinational cohort of 274 MB, 156 PA, and 97 EP. We designed a 2-step sequential classifier – first ruling out PA, and next distinguishing MB from EP. For each step, we selected the best performing model from 6-candidate classifier using a reduced feature set, and measured performance on a holdout test set with the microaveraged F1 score. RESULTS Optimal diagnostic performance was achieved using 2 decision steps, each with its own distinct imaging features and classifier method. A 3-way logistic regression classifier first distinguished PA from non-PA, with T2 uniformity and T1 contrast as the most relevant IBSI features (F1 score 0.8809). A 2-way neural net classifier next distinguished MB from EP, with T2 sphericity and T1 flatness as most relevant (F1 score 0.9189). The combined, sequential classifier was with F1 score 0.9179. CONCLUSION An MRI-based sequential machine-learning classifiers offer high-performance prediction of pediatric posterior fossa tumors across a large, multinational cohort. Optimization of this model with demographic, clinical, imaging, and molecular predictors could provide significant advantages for family counseling and surgical planning.
A fetus with a congenital intracranial teratoma presenting with a disproportionately enlarged head at 36 weeks' gestation is presented. The infant died of respiratory failure within 24 h of birth. On postmortem examination the histologic report revealed an immature teratoma. This article describes the prenatal sonographic diagnosis of a rare case of intracranial immature teratoma in a fetus at 36 weeks' gestation.
217G astrointestinal stromal tumors (GISTs) are the most common nonepithelial tumors of the gastrointestinal tract (1). Their incidence by anatomic location varies in different studies: 51-70% in the stomach; 25-36% in the small intestine; 5-7% in the colon, rectum, and appendix; and 1-3% in the esophagus. Primary GIST can be found in the omentum, mesentery, or retroperitoneum, unrelated to the tubular gastrointestinal tract, but most in these sites are metastatic from gastric or intestinal primaries (2-7). The distribution of metastases is predictable, with the liver and peritoneum the most common sites (5, 8). The liver is the most common site of metastasis both at presentation and at disease relapse (5). Distant metastasis to other sites, especially the bones and lung, is relatively rare (5, 9). We present radiologic findings in an unusual case of an esophageal GIST with pulmonary and bone lesions. Case reportA 53-year-old man presented with intermittent odynophagia and dysphagia with both liquids and solids, weakness, and weight loss in the previous 3-4 months. Barium esophagography demonstrated a mass that distorted the esophageal lumen and showed extrinsic compression of the distal portion of the esophagus adjacent to the esophagogastric junction ( Fig. 1). An enhanced computed tomography (CT) scan showed a large hypodense soft-tissue mass in the posterior mediastinum. The mass originated from the right lateral wall of the esophagus, and protruded into the esophageal lumen (Fig. 2a). A crescent-shaped pocket of air inside the mass suggested esophageal origin of the mass which later was confirmed endoscopically. Bilateral pulmonary nodules also were detected at the same time on thoracic CT (Fig. 2b).Thoracic magnetic resonance imaging (MRI) showed a 13 x 9 x 6 cm esophageal mass indenting the left atrium. The mass showed no involvement of the mediastinal great vessels (Fig. 3). Scintigraphic evaluation and MRI of the right humerus showed suspicious lesions (Fig. 4). These suspicious pulmonary and bone lesions suggested the possibility of metastasis.The patient underwent a biopsy from the mediastinal mass. Immunohistochemical staining demonstrated the tumor cells to be positive for ckit (CD117) protein and CD34 protein. The histologic features and staining pattern of the tumor cells were consistent with a GIST (Fig. 5). Because the tumor size was ≥10 cm, and 5-10 mitoses were identified per 50 high power fields (HPF), the tumor was considered to be a high-risk GIST.After diagnosis, the patient received imatinib mesylate (Gleevec; Novartis Pharma, Basel, Switzerland) 400 mg/day for two months. The clinical response was good, and the patient's dysphagia, odynophagia, and weakness resolved. Control contrast-enhanced CT scans showed a minimal decrease in tumor size. In the esophageal lumen, the crescent- ABSTRACT Gastrointestinal stromal tumors (GISTs) are rare neoplasms of the gastrointestinal tract. One to three percent of GISTs occur in the esophagus. GISTs have a great potential for diffuse intra-abdominal s...
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