Pierpaolo Pattacini

A comparison of digital radiography systems in terms of effective detective quantum efficiency

PURPOSE The purpose of this study is to compare digital radiography systems using the metric effective detective quantum efficiency (eDQE), which better reflects digital radiography imaging system performance under clinical operating conditions, in comparison with conventional metrics such as modulation transfer function (MTF), normalized noise power spectra (NNPS), and detective quantum efficiency (DQE). METHODS The eDQE was computed by the calculation of the MTF, the NNPS, the phantom attenuation and scatter, and estimation of x-ray flux. The physical characterization of the systems was obtained with the standard beam conditions RQA5 and RQA9, using the PA Chest phantom proposed by AAPM Report # 31 simulating the attenuation and scatter characteristics of the adult human thorax. The MTF (eMTF) was measured by using an edge test placed at the frontal surface of the phantom, the NNPS (eNNPS) was calculated from images of the phantom acquired at three different exposure levels covering the operating range of the system (E(0), which is the exposure at which a system is normally operated, 1/3 E(0), and 3 E0), and scatter measurements were assessed by using a beam-stop technique. The integral of DQE (IDQE) and eDQE (IeDQE) was calculated over the whole spatial frequency range. RESULTS The eMTF results demonstrate degradation due to magnification and the presence of scattered radiation. The eNNPS was influenced by the grid presence, and in some systems, it contained structured noise. At typical clinical exposure levels, the magnitude of eDQE(0) with respect to DQE(0) at RQA9 beam conditions was 13%, 17%, 16%, 36%, and 24%, respectively, for Carestream DRX-1, Carestream DRX-1C, Carestream Direct View CR975, Philips Digital Diagnost VM, and GE Revolution XR/d. These results were confirmed by the ratio of IeDQE and IDQE in the same conditions. CONCLUSIONS The authors confirm the robustness and reproducibility of the eDQE method. As expected, the DR systems performed better than the CR systems due to their superior signal-to-noise transfer characteristics. The results of this study suggest the eDQE method may provide an opportunity to more accurately assess the clinical performance of digital radiographic imaging systems by accounting for factors such as the presence of scatter, use of an antiscatter grid, and magnification and focal spot blurring effects, which are not reflected in conventional DQE measures.

Acrania-Anencephaly Associated with Hypospadias. Prenatal Ultrasound and MRI Diagnosis and Molecular Folate Metabolism Pathway Analysis

Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.

Anencephaly-exencephaly sequence and congenital diaphragmatic hernia in a fetus with 46, XX karyotype: Early prenatal diagnosis, necropsy, and maternal folate pathway genetic analysis.

Neural tube defects (NTDs) are a group of serious birth defects that affect the developing nervous system and include acrania, anencephaly, and encephalocele. Acrania may manifest as a partial or complete absence of the cranial vault and of cerebral hemispheres (forebrain) with abnormal brain development. Anencephaly instead is generally defined as the congenital absence of skull, scalp, and forebrain. Acrania occurs more infrequently than anencephaly and may be diagnosed prenatally during the first trimester [1, 2]. It may occur as a single, isolated malformation or with co-existing anomalies including extracranial defects such as rachischisis, hypoplastic ears, cleft lip and palate, omphalocele, limb defects, cardiac and kidney

Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature

Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care.

p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia

Campomelic dysplasia (CD) is a rare skeletal dysplasia caused by mutation in the SOX9 gene located on chromosome 17q24.3‐q25.1, which regulates testis and chondrocyte development. Severe bowing of the long bones was seen at second‐trimester scan. DNA analysis demonstrated a previously unreported de novo missense mutation in p.His165Pro. Ultrasound‐based, molecular biology diagnosis led to early therapeutic termination of pregnancy. Histologic examination of the femoral epyphyseal growth plate confirmed scanty proliferation zone and maturation zone with degenerated chondrocytes.

Integrating 3D Sonography With Targeted MRI in the Prenatal Diagnosis of Posterior Cleft Palate Plus Cleft Lip

Cleft lip and cleft palate are among the more common congenital abnormalities, present in 1.82 per 1000 live births. Although high-quality antenatal 2D sonography can diagnose clefts of the lips and the alveolar ridge, 3D may enhance detection by examining the fetal face in the frontal plane followed by a secondary rotation through 180 degrees on the vertical axis to examine the secondary palate, which has been called the “reverse face” view. Sonographically 3D targeted ultrafast magnetic resonance imaging (MRI) has been shown to improve the diagnostic accuracy of facial cleft by identifying whether a cleft in the primary palate extends to the secondary palate. Further investigation may confirm the ability of MRI to define the extent of the cleft to the secondary palate at a less advanced gestational age (18-23 weeks), where either fetal development or movements could reduce the accuracy of the technique.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

OBJECTIVE Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. CONCLUSION Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.

Prenatal Ultrasound and MRI Diagnosis of Jeune Syndrome Type I (Asphyxiating Thoracic Dystrophy) with Histology and Post-Mortem Three-Dimensional CT Confirmation

Asphyxiating thoracic dystrophy (ATD) also known as Jeune syndrome is a rare autosomal recessive multisystem disorder with an incidence estimated in 1:100.000–130.000 live births. Associated findings may include hepatic fibrosis and renal cysts. A prenatal ultrasound and MRI diagnosis performed in the early second-trimester of pregnancy is reported together with DNA analysis. Post-mortem diagnostic investigations such as radiograph and three-dimensional CT scan and histology have been useful in the final diagnosis of this rare skeletal dysplasia.

Digital Mammography versus Digital Mammography Plus Tomosynthesis for Breast Cancer Screening: The Reggio Emilia Tomosynthesis Randomized Trial

Purpose To compare digital mammography (DM) plus digital breast tomosynthesis (DBT) versus DM alone for breast cancer screening in the Reggio Emilia Tomosynthesis trial, a two-arm test-and-treat randomized controlled trial. Materials and Methods For this trial, eligible women (45-70 years old) who previously participated in the Reggio Emilia screening program were invited for mammography. Consenting women were randomly assigned 1:1 to undergo DBT+DM or DM (both of which involved two projections and double reading). Women were treated according to the decision at DBT+DM. Sensitivity, recall rate, and positive predictive value (PPV) at baseline were determined; the ratios of these rates for DBT+DM relative to DM alone were determined. Results From March 2014 to March 2016, 9777 women were recruited to the DM+DBT arm of the study, and 9783 women were recruited to the DM arm (mean age, 56.2 vs 56.3 years). Recall was 3.5% in both arms; detection was 4.5 per 1000 (44 of 9783) and 8.6 per 1000 (83 of 9777), respectively (+89%; 95% confidence interval [CI]: 31, 72). PPV of the recall was 13.0% and 24.1%, respectively (P = .0002); 72 of 80 cancers found in the DBT+DM arm and with complete DBT imaging were positive at least at one DBT-alone reading. The greater detection rate for DM+DBT was stronger for ductal carcinoma in situ (+180%, 95% CI: 1, 665); it was notable for small and medium invasive cancers, but not for large ones (+94 [95% CI: 6, 254]; +122 [95% CI: 18, 316]; -12 [95% CI: -68, 141]; for invasive cancers < 10 mm, 10-19 mm, and ≥ 20 mm, respectively). Conclusion DBT+DM depicts 90% more cancers in a population previously screened with DM, with similar recall rates.

CT-guided biopsy of pulmonary nodules; predictive factors for diagnosis: Is there room for more prognostic factors?

believe that a technical aspect connected to the choice of the safest path to the lesion needs appropriate consideration. In our practice, when planning the best path to reach a lung nodule, to avoid bone, nerves, or vessel, we noticed that the more the angle widens respect to 0° (consider 0° as the perpendicular approach) the more the targeting is difficult and the number of attempts to reach the nodule increases. Therefore, the perpendicular puncture revealed itself as an independent factor predicting higher success rate (malignant or benignant histological diagnosis); angled insertion of the needle was on the contrary associated with lower diagnostic accuracy.