The prevention of sudden cardiac death (SCD) in cardiomyopathies (CM) remains a challenge. The current guidelines still favor the implantation of devices for the primary prevention of SCD only in patients with severely reduced left ventricular ejection fraction (LVEF) and heart failure (HF) symptoms. The implantation of an implantable cardioverter-defibrillator (ICD) is a protective barrier against arrhythmic events in CMs, but the benefit does not outweigh the cost in low risk patients. The identification of high risk patients is the key to an individualized prevention strategy. Cardiac magnetic resonance (CMR) provides reliable and reproducible information about biventricular function and tissue characterization. Furthermore, late gadolinium enhancement (LGE) quantification and pattern of distribution, as well as abnormal T1 mapping and extracellular volume (ECV), representing indices of diffuse fibrosis, can enhance our ability to detect high risk patients. CMR can also complement electro-anatomical mapping (EAM), a technique already applied in the risk evaluation and in the ventricular arrhythmias ablation therapy of CM patients, providing a more accurate assessment of fibrosis and arrhythmic corridors. As a result, CMR provides a new insight into the pathological substrate of CM. CMR may help identify high risk CM patients and, combined with EAM, can provide an integrated evaluation of scar and arrhythmic corridors in the ablative therapy of ventricular arrhythmias. Full article

The occurrence of an aberrant obturator artery is common in human anatomy. Detailed knowledge of this anatomical variation is important for the outcome of pelvic and groin surgeries requiring appropriate ligation. Familiarity with the occurrence of an aberrant obturator artery is equally important for instructors teaching pelvic anatomy to students. Case studies highlighting this vascular variation provide anatomical instructors and surgeons with accurate information on how to identify such variants and their prevalence. Seven out of eighteen individuals studied (38.9%) exhibited an aberrant obturator artery, with two of those individuals presenting with bilateral aberrant obturator arteries (11.1%). Six of these individuals had an aberrant obturator artery that originated from the deep inferior epigastric artery (33.3%). One individual had an aberrant obturator artery that originated directly from the external iliac artery (5.6%). Full article

The serum sodium to urinary sodium ratio divided by the (serum potassium)² to urinary potassium ratio (SUSPPUP formula) reflects aldosterone action. We here prospectively investigated into the usefulness of the SUSPPUP ratio as a diagnostic tool in primary hyperaldosteronism. Parallel measurements of serum and urinary sodium and potassium concentrations (given in mmol/L) in the fasting state were done in 225 patients. Of them, 69 were diagnosed with primary aldosteronism (PA), 102 with essential hypertension (EH), 26 with adrenal insufficiency (AI) and 28 did not suffer from the above-mentioned disorders and were assigned to the reference group (REF). The result of the SUSPPUP formula was highest in the PA group (7.4, 4.2–12.3 L/mmol), followed by EH (3.2, 2.3–4.3 L/mmol), PA after surgery (3.9, 3.0–6.0 L/mmol), REF (3.4 ± 1.4 L/mmol) and AI (2.9 +/− 1.2 L/mmol). The best sensitivity in distinguishing PA from EH was reached by multiplication of the aldosterone to renin-ratio (ARR) with the SUSPPUP formula (92.7% at a cut off > 110 L/mmol), highest specificity was reached by the SUSPPUP determinations (87.2%). The integration of the SUSPPUP ratio into the ARR helps to improve the diagnosis of hyperaldosteronism substantially. Full article

To assess the safety, efficacy and mid-term outcomes of single-session percutaneous mechanical thrombectomy (PMT) for acute symptomatic iliofemoral deep vein thrombosis (DVT) using the Aspirex^®S device. Retrospective review of 30 patients (women, 23; mean age, 45.5 ± 19.9 years; range, 17–76) who underwent PMT with the 10-French Aspirex^®S device (Straub Medical AG, Wangs, Switzerland) for acute DVT between December 2015 and March 2019. Procedures were performed by popliteal (n = 22) or jugular (n = 7) approach, or both (n = 1). Mean time from diagnosis to PMT was 5.5 ± 4.6 days (range, 2–11). Successful thrombus removal and venous patency restoration were achieved in all patients (100%). Fluid removal was 307.8 ± 66.1 mL (range, 190–410). Additional venous stenting rate was 100%. Mean procedural time was 107.3 ± 33.9 min (range, 70–180). No major complication occurred. The patient’s postprocedural course was uneventful in all cases, with hospital discharge within 2 days in 83.3%. Early in-stent rethrombosis occurred within 1 week in 3 patients, successfully managed by endovascular approach. Secondary stent patency rate was 86.7% at a mean follow-up of 22.3 ± 14.2 months (range, 6–48), as assessed by Duplex ultrasound. Single-session of PMT using the Aspirex^®S device is a safe and effective therapeutic option in patients presenting with acute symptomatic iliofemoral DVT. Full article

The aims of the present study were to evaluate the prevalence of undiagnosed mental health conditions (UMHC) in people living with HIV (PLWHIV) on antiretroviral treatment and with long-term suppressed HIV viremia, and its association with neurocognitive impairment (NCI). A cross-sectional observational study on HIV subjects, ≥18 years old, on stable antiretroviral treatment and with HIV viral load <50 copies/mL was carried out. Patients with known comorbidities, substances abuse, anxiety or depression were excluded. UMHC were evaluated by the Millon Clinical Multiaxial Inventory-III and NCI by Frascati criteria. The association between NCI and sociodemographic, clinical HIV variables and mental health conditions was analyzed. Further, the relationship between mental health conditions scores and NCI diagnosis was evaluated. Eighty patients were included, 37.5% had at least one undiagnosed mental health condition, and 26.3% had NCI. The most frequent mental health conditions were: anxiety (21.3%); bipolar disorder (11.3%); and substance dependence (8.8%). Only longer time since HIV diagnosis (p = 0.030) and at least one mental health condition diagnosis (p = 0.002) showed an association with NCI. Participants with NCI presented higher scores in anxiety, alcohol dependence and post-traumatic stress. Undiagnosed mental health conditions are frequent in PLWHIV. These disorders cannot be identified by HIV clinicians or basic screening questionnaires, and they are not usually self-reported by patients. UMHC could act as confounders in the evaluation of NCI. Full article

Human cytomegalovirus (HCMV) is the leading infectious agent causing congenital disabilities. The risk of HCMV transmission to the fetus in pregnant women receiving immunosuppressive agents is unknown. We describe two cases of pregnant women with evidence of pre-conception HCMV protective immunity receiving azathioprine for ulcerative colitis or systemic lupus erythematosus. Both women reactivated the HCMV and transmitted the infection to the fetuses. One newborn showed unilateral hearing deficits and brain abnormalities while the other was asymptomatic. The mother of the symptomatic newborn had low levels of total and HCMV-specific blood CD4⁺ T cells. Women receiving immunosuppressive agents deserve information about the risk of HCMV congenital infection and should be monitored for HCMV infection during pregnancy. Their newborns should be screened for HCMV congenital infection. Full article

: The aim of this study was to find a prenatal parameter to be able to predict possible prenatal complications or postnatal surgical options, thus allowing the fetal medicine specialist, together with pediatric surgeons and neonatologists, to improve the counseling of the parents and to determine the timing of delivery and therapy. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 34 cases of gastroschisis between the years 2007 and 2017. A total of 34 fetuses with gastroschisis were examined and 33 outcomes registered: 22 cases of simple gastroschisis (66.7%) and 11 cases of complex gastroschisis (33.3%). A cut-off value of 18 mm for intraabdominal bowel dilatation (IABD) showed a positive predictive value (PPV) of 100% for predicting simple gastroschisis. IABD gives the best prediction for simple versus complex gastroschisis (cut-off of 18 mm). Extra-abdominal bowel dilatation (EABD) cut-off values of 10 mm and 18 mm showed low sensitivity and specificity to predict complex gastroschisis. Full article

SARS-CoV-2 is the causative agent of COVID-19. Severe COVID-19 disease has been associated with disseminated intravascular coagulation and thrombosis, but the mechanisms underlying COVID-19-related coagulopathy remain unknown. The risk of severe COVID-19 disease is higher in males than in females and increases with age. To identify gene products that may contribute to COVID-19-related coagulopathy, we analyzed the expression of genes associated with the Gene Ontology (GO) term “blood coagulation” in the Genotype-Tissue Expression (GTEx) database and identified four procoagulants, whose expression is higher in males and increases with age (ADAMTS13, F11, HGFAC, KLKB1), and two anticoagulants, whose expression is higher in females and decreases with age (C1QTNF1, SERPINA5). However, the expression of none of these genes was regulated in a proteomics dataset of SARS-CoV-2-infected cells and none of the proteins have been identified as a binding partner of SARS-CoV-2 proteins. Hence, they may rather generally predispose individuals to thrombosis without directly contributing to COVID-19-related coagulopathy. In contrast, the expression of the procoagulant transferrin (not associated to the GO term “blood coagulation”) was higher in males, increased with age, and was upregulated upon SARS-CoV-2 infection. Hence, transferrin warrants further examination in ongoing clinic-pathological investigations. Full article

Background: We evaluated the feasibility of the reduced field-of-view (rFOV) diffusion-weighted imaging (DWI) with computed DWI technique by comparison and analysis of the inter-method agreement among acquired rFOV DWI (rFOVA), rFOV DWI with computed DWI technique (rFOVS), and dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) in patients with breast cancer. Methods: A total of 130 patients with biopsy-proven breast cancers who underwent breast MRI from April 2017 to December 2017 were included in this study. The rFOVS were reformatted by calculation of the apparent diffusion coefficient curve obtained from rFOVA b = 0 s/mm² and b = 500 s/mm². Visual assessment of the image quality of rFOVA b = 1000 s/mm², rFOVS, and DCE MRI was performed using a four-point grading system. Morphologic analyses of the index cancer was performed on rFOVA, rFOVS, and DCE MRI. The signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and contrast of tumor-to-parenchyma (TPC) were calculated. Results: Image quality scores with rFOVA, rFOVS, and DCE MRI were not significantly different (p = 0.357). Lesion analysis of shape, margin, and size of the index cancer also did not show significant differences among the three sequences (p = 0.858, p = 0.242, and p = 0.858, respectively). SNR, CNR, and TPC of DCE MRI were significantly higher than those of rFOVA and rFOVS (p < 0.001, p = 0.001, and p = 0.016, respectively). Significant differences were not found between the SNR, CNR, and TPC of rFOVA and those of rFOVS (p > 0.999, p > 0.999, and p > 0.999, respectively). Conclusion: The rFOVA and rFOVS showed nearly equivalent levels of image quality required for morphological analysis of the tumors and for lesion conspicuity compared with DCE MRI. Full article

Ovarian gynandroblastoma (GAB) is an extremely rare sex cord-stromal tumor showing morphological evidence of both female (granulosa cell tumor) and male (Sertoli–Leydig cell tumor (SLCT)) components. Almost all GAB cases have been reported in children, adolescents, or women of reproductive age, and most of them typically have adult granulosa cell tumors as the female component. In contrast, GAB with a juvenile granulosa cell tumor (JGCT) component is a very rare condition; to the best of our knowledge, only one case of GAB with JGCT in a postmenopausal woman has been reported. In this report, we present an extremely rare case of ovarian GAB with JGCT in an elderly patient. A 65-year-old woman presented with an abdominal mass. Abdominopelvic magnetic resonance imaging revealed a large multiseptated cystic mass measuring 20 cm. No peritoneal seeding, lymph node enlargement, or hematogenous metastasis was identified. Laboratory test showed a slight elevation of serum CA 125 level (37.1 U/mL). Based on the preoperative clinical impression of ovarian cancer, she underwent a total hysterectomy with bilateral salpingo-oophorectomy. Grossly, the ovarian mass had a smooth and glistening surface without excrescences. The cut sections showed yellow-to-tan solid areas with foci of necrosis, myxoid degeneration, and hemorrhage, as well as multilocular cystic cavities filled with serosanguinous fluid. Histologically, the female component was characterized by JGCT displaying nodular growth patterns with follicle-like structures of various shapes and sizes. Most of the microcysts contained eosinophilic or basophilic secretions. The JGCT cells had indistinct cell borders, an abundant eosinophilic cytoplasm, and round-to-oval hyperchromatic nuclei with many mitotic figures. The SLCT component consisted predominantly of intermediately differentiated Sertoli cells forming lobulated solid nodules. They were arranged in cords, solid tubules, or nests, and possessed oval-to-spindle-shaped darkly stained nuclei and scant cytoplasm. In several foci, well-formed Sertoli cell tubules were loosely aggregated within areas of moderately differentiated SLCT. In summary, we described GAB in a postmenopausal woman with JGCT and SLCT as the female and male components, respectively. This is the second case of GAB with JGCT occurring in an elderly patient. Our findings can help pathologists and clinicians make accurate histological diagnoses of GAB with a JGCT component and plan an adequate treatment strategy for this rare tumor. Full article

Background: Mechanical diagnosis and therapy (MDT) and the stratified approach using the Keele STarT Back Screening Tool (SBST) are examples of stratified low back pain (LBP) management. We investigated whether the medium–high risk in SBST can contribute to the time and sessions until discharge from MDT (Question 1) and to the loss of follow-up before identifying a promising management strategy (Question 2). Methods: A retrospective chart study was conducted. Multiple regression modeling was constructed using 10 independent variables, including whether the SBST was medium–high risk or not for Question 1, and the 9/10 independent variables for Question 2. Results: The data of 89 participants for Question 1 and 166 participants for Question 2 were analyzed. SBST was not a primary contributing factor for Question 1 (R² = 0.17–0.19). The model for Question 2 included SBST as a primary contributing factor and the shortest distance from the patient address to the hospital as a secondary contributing factor (93.4% correct classification). Conclusion: SBST status was not a primary contributing factor for time and sessions until discharge from MDT, but was a critical factor for the loss of MDT follow-up before identifying a promising management strategy. Full article

Background: Diagnosis of immune-mediated neuropathies and their differentiation from amyotrophic lateral sclerosis (ALS) can be challenging, especially at early disease stages. Accurate diagnosis is, however, important due to the different prognosis and available treatment options. We present one patient with a left-sided dorsal flexor paresis and initial suspicion of ALS and another with multifocal sensory deficits. In both, peripheral nerve imaging was the key for diagnosis. Methods: We performed high-resolution nerve ultrasound (HRUS) and 7T or 3T magnetic resonance neurography (MRN). Results: In both patients, HRUS revealed mild to severe, segmental or inhomogeneous, nerve enlargement at multiple sites, as well as an area increase of isolated fascicles. MRN depicted T2 hyperintense nerves with additional contrast-enhancement. Discussion: Peripheral nerve imaging was compatible with the respective diagnosis of an immune-mediated neuropathy, i.e., multifocal motor neuropathy (MMN) in patient 1 and multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) in patient 2. Peripheral nerve imaging, especially HRUS, should play an important role in the diagnostic work-up for immune-mediated neuropathies and their differentiation from ALS. Full article

Background: The diagnosis of sarcopenia through clinical assessment has some limitations. The literature advises studies that include objective markers along with clinical assessment in order to improve the sensitivity and specificity of current diagnostic criteria. The decrease of muscle quality precedes the loss of quantity, so we studied the role magnetic resonance imaging biomarkers as indicators of the quantity and quality of muscle in sarcopenia patients. Methods: a cross-sectional analysis was performed to analyze what MR-derived imaging parameters correlate better with sarcopenia diagnostic criteria in women of 70 years of age and over (independent walking and community-dwelling women who were sarcopenic in accordance with EWGSOP criteria with muscle mass adjusted to Spanish population were chosen). Results: The study included 26 women; 81 ± 8 years old. A strong correlation was obtained between cineanthropometric variables (BMI; thigh perimeter and fat mass) and imaging biomarkers (muscle/fat ratio, fatty infiltration, muscle T2*, water diffusion coefficient, and proton density fat fraction) with coefficients around 0.7 (absolute value). Conclusions: Knowing the correlation of clinical parameters and imaging-derived muscle quality indicators can help to identify older women at risk of developing sarcopenia at an early stage. This may allow taking preventive actions to decrease disability, morbidity, and mortality in sarcopenia patients. Full article

The etiology of endometriosis is highly complex, and although it is a benign disease, it has several biological behaviors similar to malignant lesions, including cell invasion, neo-angiogenesis, and decreased apoptosis. Survivin is a protein encoded by the BIRC5 gene that plays a role in cell division by inhibiting apoptosis and regulating the process of mitosis in embryonic and cancer cells. Therefore, we aimed to evaluate the expression of BIRC5 in samples of peripheral blood of women with and without endometriosis. This study comprised of 40 women with endometriosis and 10 healthy women as controls. Peripheral blood samples were collected in the three phases of the menstrual cycle (follicular, ovulatory, and luteal). The expression of the BIRC5 gene was evaluated by RT-qPCR using the TaqMan methodology. The BIRC5 expression was significantly higher in all phases of the menstrual cycle in women with endometriosis, regardless of the disease stage. The accuracy of BIRC5 expression in the peripheral blood for the diagnosis endometriosis presented AUC of 0.887 (p < 0.001), with 97.2% of sensitivity and specificity of 65.5% considering the overall endometriosis group. Regarding the minimal/mild endometriosis group, the AUC presented a value of 0.925 (p < 0.001), with 100% of sensitivity and 79.3% of specificity, whereas in the moderate/severe endometriosis group the AUC was 0.868 (p < 0.001), with a sensitivity of 95.8% and specificity of 65.5%. These findings suggest that the expression of BIRC5 may be a potential noninvasive biomarker for the diagnosis of endometriosis. Full article

(1) Background: Bone metastasis is among diseases that frequently appear in breast, lung and prostate cancer; the most popular imaging method of screening in metastasis is bone scintigraphy and presents very high sensitivity (95%). In the context of image recognition, this work investigates convolutional neural networks (CNNs), which are an efficient type of deep neural networks, to sort out the diagnosis problem of bone metastasis on prostate cancer patients; (2) Methods: As a deep learning model, CNN is able to extract the feature of an image and use this feature to classify images. It is widely applied in medical image classification. This study is devoted to developing a robust CNN model that efficiently and fast classifies bone scintigraphy images of patients suffering from prostate cancer, by determining whether or not they develop metastasis of prostate cancer. The retrospective study included 778 sequential male patients who underwent whole-body bone scans. A nuclear medicine physician classified all the cases into three categories: (a) benign, (b) malignant and (c) degenerative, which were used as gold standard; (3) Results: An efficient and fast CNN architecture was built, based on CNN exploration performance, using whole body scintigraphy images for bone metastasis diagnosis, achieving a high prediction accuracy. The results showed that the method is sufficiently precise when it comes to differentiate a bone metastasis case from other either degenerative changes or normal tissue cases (overall classification accuracy = 91.61% ± 2.46%). The accuracy of prostate patient cases identification regarding normal, malignant and degenerative changes was 91.3%, 94.7% and 88.6%, respectively. To strengthen the outcomes of this study the authors further compared the best performing CNN method to other popular CNN architectures for medical imaging, like ResNet50, VGG16, GoogleNet and MobileNet, as clearly reported in the literature; and (4) Conclusions: The remarkable outcome of this study is the ability of the method for an easier and more precise interpretation of whole-body images, with effects on the diagnosis accuracy and decision making on the treatment to be applied. Full article