A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility.

Introduction: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a disease characterized by the failure of angiogenesis, vascularization, and hair formation caused by a mutation in the SOX18 gene. Case Presentation: We report a 15-year-old female patient presented with sparse hairs on her scalp and eyebrows and the absence of eyelashes and body hair since birth. We detected premature weathering due to abnormality of the hair shaft. Discussion/Conclusion: Detection of trichophytosis and split hair in light microscopy in a patient with sparse hair, telangiectasia, and lymphedema may help diagnose HLTS.

Differentiation between primary CNS lymphoma and atypical glioblastoma according to major genomic alterations using diffusion and susceptibility-weighted MR imaging.

PURPOSE: We aimed to differentiate primary central nervous system lymphoma (PCNSL) from atypical glioblastoma (GB) and distinguish major genomic subtypes between these tumors using susceptibility-weighted imaging (SWI) along with diffusion-weighted imaging (DWI). METHODS: Thirty-one immuno-competent patients with PCNSL stratified by BCL2 and MYC rearrangement, and 57 patients with atypical GB (no visible necrosis) grouped according to isocitrate dehydrogenase-1 (IDH1) mutation status underwent 3.0-Tesla MRI before treatment in this retrospective study. Region of interest analysis with apparent diffusion coefficient (ADC) and SWI signal intensity values of the tumors were normalized by dividing those of contralateral white matter. The independent-samples t-test and Kruskal-Wallis test were utilized to compare parameters. The diagnostic ability of each parameter and their optimal combination was evaluated by logistic regression analysis and receiver operating characteristic. RESULTS: PCNSL with rearrangement of both MYC and BCL2 (n = 7) [mean relative (r) ADCmean:0.87 ±â€¯0.06, rADCmin:0.72 ±â€¯0.08] demonstrated significantly lower rADCmean, and rADCmin compared to other PCNSLs (n = 24) (rADCmean:1.19 ±â€¯0.18, rADCmin:1.03 ±â€¯0.17;p < 0.001) and GBs (p < 0.001). GB without IDH1 mutation (n = 44) (mean rSWI value:0.95 ±â€¯0.15) demonstrated significantly lower rSWI value compared to GB with IDH1 mutation (n = 13) (rSWI value:1.13 ±â€¯0.09;p < 0.001) and PCNSL (p < 0.001). The incorporation of rADCmean and rSWI parameters distinguished GB with IDH1 mutation [Area under the curve (AUC):0.985] with sensitivity and specificity of 94.3 and 100 % respectively; and PCNSL with rearrangement of both MYC and BCL2 (AUC:0.982) with sensitivity and specificity of 100 % and 95.4 %, respectively. CONCLUSiONS: Combined analysis of SWI and DWI could differentiate atypical GB from PCNSL and distinguish major genomic subtypes between these tumors.

Correlation between dynamic susceptibility contrast perfusion MRI and genomic alterations in glioblastoma.

PURPOSE: To determine if dynamic susceptibility contrast perfusion MR imaging (DSC-pMRI) can predict significant genomic alterations in glioblastoma (GB). METHODS: A total of 47 patients with treatment-naive GB (M/F: 23/24, mean age: 54 years, age range: 20-90 years) having DSC-pMRI with leakage correction and genomic analysis were reviewed. Mean relative cerebral blood volume (rCBV), maximum rCBV, relative percent signal recovery (rPSR), and relative peak height (rPH) were derived from T2* signal intensity-time curves by ROI analysis. Major genomic alterations of IDH1-132H, MGMT, p53, EGFR, ATRX, and PTEN status were correlated with DSC-pMRI-derived GB parameters. Statistical analysis was performed utilizing the independent-samples t-test, ROC (receiver operating characteristic) curve analysis, and multivariable stepwise regression model. RESULTS: rCBVmean and rCBVmax were significantly different in relation to the IDH1, MGMT, p53, and PTEN mutation status (all p < 0.05). The rPH of the p53 mutation-positive GBs (mean 5.8 ± 2.8) was significantly higher than those of the p53 mutation-negative GBs (mean 4.0 ± 1.5) (p = 0.022). Multivariable stepwise regression analysis revealed that the presence of IDH-1 mutation (B = - 2.81, p = 0.005) was associated with decreased rCBVmean; PTEN mutation (B = - 1.21, p = 0.003) and MGMT methylation (B = - 1.47, p = 0.038) were associated with decreased rCBVmax; and ATRX loss (B = - 1.05, p = 0.008) was associated with decreased rPH. CONCLUSION: Significant associations were identified between DSC-pMRI-derived parameters and major genomic alterations, including IDH-1 mutation, MGMT methylation, ATRX loss, and PTEN mutation status in GB.

Neuroimaging of first seizure in the adult emergency patients.

The aim is to establish the role of head computed tomography (CT) and magnetic resonance imaging (MRI) in adults presenting to the emergency department (ED) with first-time seizure (FS) and to analyze the potential predictor variables for the adverse imaging outcome. We retrospectively reviewed the medical records of all adults who underwent cranial CT or MRI between January 1, 2011, and December 1, 2016, to an academic ED for FS. Patients were excluded if were under 18 years of age, had known recent intracranial pathology, known brain tumor or having a history of trauma. Important predictive variables to indicate pathology in either CT or MR scan in patients with FS were evaluated with logistic regression analysis. A total of 546 FS (293 men and 253 women; range, 18-81 years; mean, 47 years) were identified in patients receiving either cranial CT or MR scan. Of them, abnormal findings were observed in 22/451 (4.8%) patients on CT and 18/95 (18.9%) patients on MRI. Predictor variables of age greater than 50 years, focal neurologic deficit, hypoglycemia, and history of malignancy were identified on CT, whereas a history of malignancy, age greater than 50 years and focal neurological deficit were determined on MRI. Limiting neuroimaging to this population would potentially reduce head CT scans by 67% and would potentially reduce head MRI scans by 47%. Clinical suspicion should be heightened and the neuroimaging should be considered for advanced age, history of malignancy, hypoglycemia or focal neurological deficits in patients with FS.

Dynamic Contrast-Enhanced T1-Weighted Perfusion Magnetic Resonance Imaging Identifies Glioblastoma Immunohistochemical Biomarkers via Tumoral and Peritumoral Approach: A Pilot Study.

OBJECTIVE: We aimed to evaluate the usefulness of dynamic contrast-enhanced T1-weighted perfusion magnetic resonance imaging (DCE-pMRI) to predict certain immunohistochemical (IHC) biomarkers of glioblastoma (GB) in this pilot study. METHODS: We retrospectively reviewed 36 patients (male/female, 25:11; mean age, 53 years; age range, 29-85 years) who had pretreatment DCE-pMRI with IHC analysis of their excised GBs. Regions of interest of the enhancing tumor (ER) and nonenhancing peritumoral region (NER) were used to calculate DCE-pMRI parameters of volume transfer constant, back flux constant, volume of the extravascular extracellular space, initial area under enhancement curve, and maximum slope. IHC biomarkers including Ki-67 labeling index, epidermal growth factor receptor (EGFR), oligodendrocyte transcription factor 2 (OLIG2), isocitrate dehydrogenase 1 (IDH1), and p53 mutation status were determined. The imaging metrics of GB with IHC markers were compared using the Kruskal-Wallis test and Spearman correlation analysis. RESULTS: Among 30 patients with available IDH1 status, 14 patients (46.6%) had IDH1 mutation. EGFR amplification was present in 24/36 (66.6%) patients. Mean Ki-67 labeling index was 29% (range, 1.5%-80%). p53 mutation was present in 20/36 GBs (55%), whereas OLIG2 expression was positive in 29/36 GBs (80.5%). Various DCE-pMRI parameters gathered from the ER and NER were significantly correlated with IDH1 mutation, EGFR amplification, and OLIG2 expression (P < 0.05). Ki-67 labeling index showed a strong positive correlation with initial area under enhancement curve (r = 0.619; P < 0.001). CONCLUSIONS: DCE-pMRI could determine surrogate IHC biomarkers in GB via tumoral and peritumoral approach, potential targets for individualized treatment protocols.

Effect of Needle-Tract Bleeding on Pneumothorax and Chest Tube Placement Following CT Guided Core Needle Lung Biopsy.

BACKGROUND: Bleeding in the biopsy tract has been studied for its ability to decrease the risk of pneumothorax with indefinite results in the previous studies. PURPOSE: To investigate the risk factors for needle-tract bleeding (NTB) and the possible effect of NTB on the pneumothorax and resultant chest tube placement after CT-guided cutting needle biopsy (CT-CNB) of pulmonary lesions. METHODS: Predictive variables for NTB and the effect of NTB on the development of pneumothorax and consequent chest tube placement were retrospectively determined in 416 patients who had undergone an 18-gauge non-coaxial CT-CNB (338 men and 78 women; average age, 59.3 years). Patient-related parameters were age, gender, patient position, and severity of pulmonary emphysema. Lesion-related variables were size, localization, and contour characteristics of the lesion. Procedure-related variables were the presence of atelectasis, pleural tag, and fissure in the needle-tract, length of the aerated lung parenchyma crossed by needle, needle entry angle, number of pleural punctures, the experience of the operator, and procedure duration. All variables were analyzed by x2 test and logistic regression analysis. RESULTS: NTB was demonstrated in 142 of 421 (33.7%) procedures. The predictive variables of NTB were smaller lesion size (p = 0.011) and greater lesion depth (p = 0.002). In patients without emphysema around the lesion, the pneumothorax developed in 44/190 cases (23.1%) without NTB and in 12/95 procedures (12.6%) with NTB (p < 0.001). CONCLUSION: NTB may have a preventive effect on pneumothorax development, particularly in the absence of emphysema around the lesion.

Diffuse large B-cell lymphoma presenting with masses in the pineal and adrenal glands.

Magnetic resonance imaging (MRI) may offer several potential advantages in the evaluation of lymphoma with the additive value of H1-MRS for differential diagnosis. Even though lymphoma has unique imaging findings on CT and multiparametric MRI, definite diagnosis must be thoroughly established by histopathological examination.

Linear Atelectasis around the Hilum on Chest Radiography: A Novel Sign of Early Lung Cancer.

BACKGROUND: Linear atelectasis is a focal area of subsegmental atelectasis with a linear shape. Linear atelectasis may occur as a consequence of subsegmental bronchial obstruction. AIMS: We propose an early roentgen sign of obstructing lung tumors, namely perihilar linear atelectasis, and ascertain whether this phenomenon could be used as a sign to detect radiographically occult primary lung cancer. MATERIALS AND METHODS: We performed a retrospective review of 45,000 posteroanterior chest radiographs to determine the frequency of appearance and characteristics of perihilar linear atelectasis. The perihilar region of chest radiographs was evaluated for the presence of linear atelectasis. When linear atelectasis was found, the total thickness was measured. Student's t-test was used to evaluate statistical significance, correlating the thickness of atelectasis and the presence of obstructing central primary lung cancer. RESULTS: Perihilar linear atelectasis was demonstrated in 58 patients. Atelectasis was caused by an obstructing tumor in 21 (36%) cases and a variety of other conditions in 37 (64%) patients. A statistically significant relationship (P < 0.001) was observed between the dimension of perihilar linear atelectasis and primary lung cancer, with 16 of 19 patients with thick (>5.5 mm) perihilar linear atelectasis found to have primary lung cancer. CONCLUSION: Thick perihilar linear atelectasis is a new diagnostic roentgen sign that suggests subsegmental bronchial obstruction. In this patient subgroup, who are otherwise asymptomatic, a persistent linear atelectasis can be due to primary lung cancer.

Dural venous sinus thrombosis: The combination of noncontrast CT, MRI and PC-MR venography to enhance accuracy.

Aim The aim of this article is to determine whether a combination of noncontrast CT (NCCT), three-dimensional-phase contrast magnetic resonance venography (3D PC-MRV), T1- and T2-weighted MRI sequences can help to identify acute and subacute dural venous sinus thrombosis (DVST) with greater accuracy. Methods A total of 147 patients with DVST ( n = 30) and a control group ( n = 117) underwent NCCT, T1- and T2-weighted MRI sequences, and 3D PC-MRV from 2012 to 2016. Two experienced observers interpreted the images retrospectively for the presence of DVST. Nonvisualization of the dural venous sinuses on 3D PC-MRV and signal changes supporting acute or subacute thrombus on T2- and T1-weighted images were considered a direct sign of DVST. Also, using circle region of interest (ROI) techniques, attenuation measurement from each sinus was obtained on NCCT. Sensitivity and specificity were computed for these modalities separately and in combination for diagnosis of DVST using digital subtraction angiography as the reference standard. Results Nonvisualization of venous sinuses on 3D PC-MRV (sensitivity 100%, specificity 71%) in combination with both applying Hounsfield unit (HU) threshold values of greater than 60 on NCCT (sensitivity 70%, specificity 94%) and acquiring signal changes supporting DVST on T2- and T1-weighted images (sensitivity 83%, specificity 96%), were found to have 100% sensitivity and 100% specificity in the identification of acute or subacute DVST. Conclusion The combination of NCCT, T1- and T2-weighted MRI and 3D PC-MRV may allow the diagnosis of acute or subacute DVST and may obviate the need for contrast usage in patients with renal impairment or contrast allergies.

Signal Changes in the Dentate Nucleus and Globus Pallidus on Unenhanced T1-Weighted Magnetic Resonance Images After Intrathecal Administration of Macrocyclic Gadolinium Contrast Agent.

OBJECTIVES: The aim of this study was to evaluate signal changes in the dentate nucleus and globus pallidus (GP) on unenhanced T1-weighted magnetic resonance (MR) images (T1 WI) in a cohort of patients who have received intrathecal macrocyclic ionic gadolinium-based contrast agent (GBCA) gadoterate meglumine. MATERIALS AND METHODS: A group of 20 patients (male/female ratio, 8:12; mean age, 39.5 ± 15.5 years) who had not received intravenous GBCA but had received an intrathecal macrocyclic ionic GBCA (plus baseline and an additional final magnetic resonance imaging [MRI] for reference) from 2012 to 2017 were retrospectively included in this institutional review board-approved study. Two radiologists inspected T1-weighted 2-dimensional spin echo (n = 7) and 3-dimensional isotropic turbo field echo (n = 13) images on a 3 T MRI system to conduct visual evaluation and quantitative analysis. Baseline and final examination signal intensity (SI) ratios were assessed across time by using the same pulse sequences. For visual analysis, SI changes on the GP, thalamus (Th), cerebellar peduncle (CP), and dentate nucleus (DN) were graded as a 3-point scale. For quantitative analysis, SI ratio differences between the baseline and final MR examinations were estimated for the DN-to-CP and GP-to-Th ratios. One-sample t tests were used to investigate whether they differed from 0. In addition, to investigate significant differences between the SI ratios for various pulse sequences, t tests were performed. The regression analysis was additionally used to find any correlation between SI ratio differences and various confounding variables including age, sex, or the mean interval between the baseline and final MR examinations. RESULTS: The SI ratio differences did not deviate significantly from 0, neither for the DN/CP ratio (0.013 ± 0.0584, P = 0.287) nor the GP/Th ratio (-0.0113 ± 0.0546, P = 0.366). The DN-to-CP and GP-to-Th SI ratio differences did not significantly deviate from 0 in the patient groups in either of the imaging sequences (P > 0.05) as well. Age, sex, and the mean interval between examinations did not influence SI ratio differences between examinations (P > 0.05). CONCLUSIONS: Intrathecal macrocyclic GBCA administration was not associated with measurable T1 SI changes in the GP and DN as an indicator of brain gadolinium deposition detectable by MRI.

Predictor variables of abnormal imaging findings of syncope in the emergency department.

BACKGROUND: This study aimed to describe the pathological findings and to analyze clinical predictors of abnormal imaging findings in patients presenting to the emergency department (ED) with syncope. METHODS: The database was retrospectively reviewed for all patients who underwent cranial computed tomography (CT) or magnetic resonance imaging (MRI), having the symptom of syncope. Patients were included only if they were from the emergency department and excluded if were under 18 years of age, had known recent intracranial pathology, known brain tumor, or having a history of trauma. The primary outcome was assumed as abnormal head CT or MRI including intracranial hemorrhage, acute or subacute stroke, and newly diagnosed brain mass. Univariate and multivariate logistic regression analysis was utilized to determine the association between clinical variables and any significant pathology in either CT or MR scan. RESULTS: Total of 1230 syncope (717 men and 513 women; range, 18-92 years; mean, 54.5 years) as presenting symptoms were identified in patients receiving either cranial CT or MR scan in the ED. Abnormal findings related to the syncope were observed in 47 (3.8%) patients. The following predictor variables were found to be significantly correlated with acutely abnormal head CT and MRI: a focal neurologic deficit, history of malignancy, hypertension, and age greater than 60 years. CONCLUSIONS: Our data offer that the identification of predictor variables has a potential to decrease the routine use of head CT and MRI in patients admitting to the ED with syncope.

Risk factors of pneumothorax and chest tube placement after computed tomography-guided core needle biopsy of lung lesions: a single-centre experience with 822 biopsies.

PURPOSE: To determine the risk factors of pneumothorax and chest tube placement after computed tomography-guided core needle lung biopsy (CT-CNB). MATERIAL AND METHODS: Variables that could increase the risk of pneumothorax and chest tube placement were retrospectively analysed in 822 CT-CNBs conducted with 18-gauge non-coaxial CT-CNB in 813 patients (646 men and 167 women; range: 18-90 years; mean: 59.8 years). Predictor variables were age, gender, patient position, severity of pulmonary emphysema, lesion size and localisation, contour characteristics, presence of atelectasis, pleural tag and fissure in the needle-tract, length of the aerated lung parenchyma crossed by the needle, needle entry angle, number of pleural punctures, experience of the operator, and procedure duration. All variables were investigated by ×2 test and logistic regression analysis. RESULTS: The overall incidence of pneumothorax was 15.4% (127/822). Chest tube placement was required for 22.8% (29/127) of pneumothoraxes. The significant independent variables for pneumothorax were lesions smaller than 3 cm (p = 0.009), supine and lateral decubitus position during the procedure (p < 0.001), greater lesion depth (p = 0.001), severity of pulmonary emphysema (p < 0.001), needle path crossing the fissure (p < 0.001), and a path that skips the atelectasis (p < 0.001) or pleural tag (p < 0.001); those for chest tube placement were prone position (p < 0.001), less experienced operator (p = 0.001), severity of pulmonary emphysema (p < 0.001), and greater lesion depth (p = 0.008). CONCLUSIONS: The supine and lateral decubitus position, a needle path that crosses the fissure, and a path that skips the atelectasis or a pleural tag are novel predictors for the development of pneumothorax.

Evaluation of the ossification of the medial clavicle according to the Kellinghaus substage system in identifying the 18-year-old age limit in the estimation of forensic age-is it necessary?

The evaluation of the ossification of the medial clavicular epiphysis being part of an assigned expert approach according to standard plays an important role within civil and criminal proceedings in assessing whether a person has reached her/his 19th or 22nd year of age. Evaluation of the medial clavicular epiphysis with thin-section CT is one of the methods recommended by the Study Group on Forensic Age Diagnostics of the German Association of Forensic Medicine. In this retrospective study, we evaluated the thin-section CT (section thickness of 0.6 and 1 mm) images of 254 patients (146 male, 108 female) with an age range of 13-28 years according to the Kellinghaus substage system. The mean values of female patients were observed to be about 10 months lower for stage 2a than the mean values of the male patients, about 13 months lower for stage 2b, and about 18 months lower for stage 2c. The earliest appearance for stage 3c was at 19 years in both sexes. Our data from this study were consistent with both our previous studies and the data of other studies. We think that stage 3c is important in determining whether a person has reached the age of 18 or not and, therefore, that the Kellinghaus substage system is a requirement in the assessment of forensic age.