MRI Insights in Breast Imaging

In the world, breast cancer is the most commonly diagnosed cancer among women. Currently, MRI is the most sensitive breast imaging method for detecting breast cancer, although false positive rates are still an issue. To date, the accuracy of breast MRI is widely recognized across various clinical scenarios, in particular, staging of known cancer, screening for breast cancer in high-risk women, and evaluation of response to neoadjuvant chemotherapy. Since technical development and further clinical indications have expanded over recent years, dedicated breast radiologists need to constantly update their knowledge and expertise to remain confident and maintain high levels of diagnostic performance in breast MRI. This review aims to detail current and future applications of breast MRI, from technological requirements and advances to new multiparametric and abbreviated protocols, and ultrafast imaging, as well as current and future indications

Co-existing psychiatric problems in ADHD in the ADORE cohort

Abstract : Objective : To study the impact of co-existing psychiatric problems with ADHD on behavioural features, psychosocial functioning and quality of life in subjects of the ADORE cohort (N=1,478). Methods : The following six groups of associated psychiatric problems with ADHD were compared: oppositional-defiant disorder or conduct disorder only (ODD/CD); anxiety or depressive disorder only (ANX/DEP); tic/Tourette's disorder only (TIC/ Tourette's); developmental co-ordination disorder only (DCD); two or more associated conditions; and none. Dependent variables included the ADHD Rating Scale-IV, the Strengths and Difficulties Questionnaire, the Clinical Global Impression-Severity scale, the Children's Global Assessment Scale and the Child Health Illness Profile-Child Edition. Results : Having multiple co-existing psychiatric problems increased the severity of ADHD in all domains, be it behavioural features, psychosocial impairment or deterioration of quality of life. A similar though less consistent pattern applied to subjects with co-existing ODD/CD. Conclusions : The ADORE study provides impressive evidence for the far-reaching consequences of co-existing psychiatric problems in children with ADHD that warrant intensive consideration in clinical assessment and treatmen

an international symposium held in Pavia on July 4th, 2014

New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled “synapses as therapeutic targets for autism spectrum disorders” (satellite of the FENS Forum for Neuroscience, Milan, 2014). In particular, world experts in the field have highlighted how animal models of ASDs have greatly advanced our understanding of the molecular pathways involved in synaptic dysfunction leading sometimes to “synaptic clinical trials” in children

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases.

Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases. Methods: A questionnaire was designed to identify the strengths, weaknesses, and issues that arose at any stage of development and implementation of the TOSCA registry. The questionnaire contained 225 questions distributed in 7 sections (identification of issues during registry planning, during the operation of the registry, during data analysis, during the publication of the results, other issues, assessment of lessons learnt, and additional comments), and was sent by e-mail to 511 people involved in the registry, including 28 members of the Scientific Advisory Board (SAB), 162 principal investigators (PIs), and 321 employees of the sponsor belonging to the medical department or that were clinical research associate (CRA). Questionnaires received within the 2 months from the initial mailing were included in the analysis. Results: A total of 53 (10.4%) questionnaires were received (64.3% for SAB members, 12.3% for PIs and 4.7% for employees of the sponsor), and the overall completeness rate for closed questions was 87.6%. The most common issues identified were the limited duration of the registry (38%) and issues related to handling of missing data (32%). In addition, 25% of the respondents commented that biases might have compromised the validity of the results. More than 80% of the respondents reported that the registry improved the knowledge on the natural history and manifestations of TSC, increased disease awareness and helped to identify relevant information for clinical research in TSC. Conclusions: This analysis shows the importance of registries as a powerful tool to increase disease awareness, to produce real-world evidence, and to generate questions for future research. However, there is a need to implement strategies to ensure patient retention and long-term sustainability of patient registries, to improve data quality, and to reduce biases

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Seizure threshold 2 (SZT2) gene mutations have been associated with developmental and epileptic encephalopathies (DEEs). Following a literature review, we collected 22 patients and identified the main clinical features related to SZT2 variants that are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly with dysmorphic facial features, corpus callosum (CC) shape abnormalities, and cortical migration disorders. Moreover, we identified the c.7825T>G homozygous missense variant in SZT2 in two female siblings presenting with focal seizures, mild-moderate ID, behavioral disturbances, and facial dysmorphisms. Interictal Electroencephalogram (EEG) and ictal EEG were both informative and revealed, respectively, temporal bilateral asynchronous slow and epileptiform abnormalities and a focal onset in both of them. Neuroimaging study revealed a thick and abnormally shaped CC. Seizure threshold 2 has been identified as a component of the KICSTOR complex, a newly recognized protein complex involved in the mammalian target of rapamycin (mTOR) pathway. mTOR signaling dysregulation represents common pathogenetic mechanisms that can explain the presence of both epileptogenesis and ID. Even if few cases had been reported, a new clinical phenotype is emerging, and recent hypothesis of hyperactivation of mTORC1 signaling might also open to targeted treatments, challenging an early diagnosis as of paramount importance.Fil: Trivisano, Marina. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Rivera, Manuel. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia. Fleni. Departamento de Neuropediatría; Argentina.Fil: Terracciano, Alessandra. Bambino Gesù Children's Hospital. Laboratory of Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Ciolfi, Andrea. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Napolitano, Antonio. Bambino Gesù Children's Hospital. Department of Imaging. Neuroradiology Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Pepi, Chiara. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.Fil: Calabrese, Costanza. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Digilio, Maria Cristina. Bambino Gesù Children's Hospital. Department of Pediatrics. Medical Genetics; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Tartaglia, Marco. Bambino Gesù Children's Hospital. Genetics and Rare Diseases Research Division; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Curatolo, Paolo. Tor Vergata University. Systems Medicine Department. Child Neurology and Psychiatry Unit; Italia.Fil: Vigevano, Federico. Bambino Gesù Children's Hospital. Department of Neuroscience; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia.Fil: Specchio, Nicola. Bambino Gesù Children's Hospital. Department of Neuroscience. Rare and Complex Epilepsy Unit; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia

Potency of Netilmicin against Staphylococci Compared to Other Ophthalmic Antibiotics

Netilmicin is a potent and safe antibiotic with a very low incidence of resistance used as a topical ophthalmic medication in bacterial ocular infections. The aim of this study was to compare netilmicin’s Quotient of Inhibitions (QIs) and killing kinetics vs Staphylococci with other ophthalmic antimicrobials. Conjunctival and corneal QIs of netilmicin formulations, in single and multiple doses of administration, were compared with those of tobramycin, ofloxacin, levofloxacin and azithromycin preparations. The same analysis was performed in human tears, comparing netilmicin eye drops solution with tobramycin ofloxacin and levofloxacin. Furthermore, killing kinetics against Staphylococci (ATCC strains and ocular isolates) of the above-cited antibiotics, as well as chloramphenicol, were compared at different time points. QI results showed that in the conjunctiva, netilmicin, in both single and multiple doses of administration, is highly effective against all staphylococcal strains tested, while in the cornea it was particularly active against methicillin-resistant Staphylococci strains. Moreover, in human tears, netilmicin eye drops solution showed a more favourable QI against Staphylococci than tobramycin, ofloxacin and levofloxacin all in single-dose administration regimen. Killing kinetic results showed that netilmicin has a great bactericidal activity vs all the microbe strains tested as netilmicin showed to be almost the most active antibiotic. Results suggest that netilmicin has one of the most favourable killing kinetic and tissue inhibitory effects against Staphylococci than the principal ophthalmic antibiotics on the market