115 results on '"C. Lisi"'
Search Results
2. P25 EFFECT OF DARATUMUMAB ON STEM CELL YIELDS IN PATIENTS WITH NEWLY DIAGNOSED MULTIPLE MYELOMA: REPORT FROM THE MULTIPLE MYELOMA LAZIO GROUP
- Author
-
F. Fazio, M. Passucci, C. Lisi, J. Micozzi, L. Fianchi, F. Di Landro, T. Za, S. Gumenyuk, S. Ferraro, B. Anaclerico, L. De Padua, O. Annibali, A. Rago, A. Piciocchi, V. Bongarzoni, L. Cupelli, A. Mengarelli, V. De Stefano, M. Martelli, and M.T. Petrucci
- Subjects
Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2023
- Full Text
- View/download PDF
3. PB2024: PREVALENCE OF TYPE 1 GAUCHER DISEASE IN PATIENTS WITH MULTIPLE MYELOMA: FIRST INTERIM ANALYSIS OF A PROSPECTIVE, MULTICENTER, OBSERVATIONAL STUDY
- Author
-
M. Offidani, C. Zizzo, S. Rupoli, I. Federici, A. Bossi, S. Morè, V. M. Manieri, M. T. Petrucci, T. Caravita di Toritto, M. Brunori, A. Gozzetti, A. Tordi, F. Fazio, C. Lisi, E. Morsia, L. Corvatta, A. Olivieri, and G. Duro
- Subjects
Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
- Full Text
- View/download PDF
4. Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection
- Author
-
Stephen B. Erickson, Andrew Bentall, Mireille El Ters, Pavel N. Pichurin, Fernando C. Fervenza, Marie C. Hogan, Loren P. Herrera Hernandez, Ladan Zand, Jing Miao, Aleksandra Kukla, Eddie L. Greene, Konstantinos N. Lazaridis, Carri A. Prochnow, Sanjeev Sethi, Filippo Vairo, and Emily C. Lisi
- Subjects
medicine.medical_specialty ,Univariate analysis ,medicine.diagnostic_test ,urogenital system ,business.industry ,General Medicine ,Odds ratio ,urologic and male genital diseases ,medicine.disease ,female genital diseases and pregnancy complications ,Focal segmental glomerulosclerosis ,Internal medicine ,Biopsy ,medicine ,Family history ,business ,Nephrotic syndrome ,Kidney disease ,Genetic testing - Abstract
Objective To increase the likelihood of finding a causative genetic variant in patients with a focal segmental glomerulosclerosis (FSGS) lesion, clinical and histologic characteristics were analyzed. Patients and Methods Individuals 18 years and older with an FSGS lesion on kidney biopsy evaluated at Mayo Clinic from November 1, 1999, through October 31, 2019, were divided into 4 groups based on clinical and histologic characteristics: primary FSGS, secondary FSGS with known cause, secondary FSGS without known cause, and undetermined FSGS. A targeted gene panel and a customized gene panel retrieved from exome sequencing were performed. Results The overall rate of detection of a monogenic cause was 42.9% (21/49). Individuals with undetermined FSGS had the highest rate of positivity (87.5%; 7/8) followed by secondary FSGS without an identifiable cause (61.5%; 8/13) and secondary FSGS with known cause (33.3%; 5/15). Four of 5 (80%) individuals in the latter group who had positive genetic testing results also had a family history of kidney disease. Univariate analysis showed that family history of kidney disease (odds ratio [OR], 13.8; 95% CI, 3.7 to 62.4; P Conclusion In adults with FSGS lesions, proper selection of patients increases the rate of positive genetic testing significantly. The majority of individuals with undetermined FSGS in whom the clinical presentation and histologic parameters are discordant had a genetic diagnosis.
- Published
- 2021
5. Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study
- Author
-
Emily C. Lisi and Nadia Ben Ali
- Subjects
Adult ,Genetic counseling ,media_common.quotation_subject ,Disease ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Malingering ,Medicalization ,Humans ,Medicine ,Child ,Genetics (clinical) ,media_common ,0303 health sciences ,Newborn screening ,Gaucher Disease ,Glycogen Storage Disease Type II ,business.industry ,030305 genetics & heredity ,Infant, Newborn ,food and beverages ,medicine.disease ,Lysosomal Storage Diseases ,Feeling ,030220 oncology & carcinogenesis ,embryonic structures ,Fabry Disease ,Age of onset ,business ,Psychosocial ,Clinical psychology - Abstract
Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening (NBS) for several LSDs has become available in recent years due to advances in technology and treatment availability. While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later-onset diseases in infancy, including creation of pre-symptomatic populations of 'patients-in-waiting', the potential for medicalization, stigmatization, and/or discrimination. In-depth interviews were conducted with 36 adults [11 with Fabry disease (FD), 8 with Gaucher disease (GD), and 17 with late-onset Pompe disease (LOPD)], to determine their perspectives on NBS for their respective conditions. Thirty-four of 36 participants were in favor of NBS; both participants not in favor had GD1. Emergent themes influencing participants favorably toward NBS included earlier age of onset, a long diagnostic odyssey, less efficacious treatment, and the desire to have made different life decisions (e.g., relationships, career, or lifestyle) with the knowledge of their diagnosis. Concerns about insurance discrimination and psychological or physical burdens were associated with less favorable opinions of NBS. The ability for parents to make future reproductive decisions based their child's NBS result was considered favorably by some participants and unfavorably by others. Participants' specific condition (GD1, FD, or LOPD) contributed to these experiences differently. Participants with LOPD and FD favored NBS to initiate earlier treatment and prevent irreversible organ damage, whereas fewer patients with GD1 mentioned this benefit. Participants with LOPD had the longest diagnostic odyssey, while those with FD were more likely to report feeling misunderstood and experiencing accusations of malingering, both contributing to favorable views of NBS. Results expand prior quantitative findings by illuminating how participants' lived experiences can shape opinions about NBS. By understanding how currently affected individuals perceive the lifelong impact of a NBS result, genetic counselors can provide better anticipatory guidance to the parents of individuals diagnosed with a later-onset LSD by NBS.
- Published
- 2021
6. Expanding insurance coverage for in vitro fertilisation with preimplantation genetic testing: putting the cart before the horse
- Author
-
Emily C Lisi
- Subjects
Cart ,Health (social science) ,medicine.medical_treatment ,Mistake ,Fertilization in Vitro ,Disease ,Medicare ,Genetic Condition ,Insurance Coverage ,03 medical and health sciences ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,Pregnancy ,medicine ,Humans ,Genetic Testing ,030212 general & internal medicine ,Preimplantation Diagnosis ,Aged ,Genetic testing ,030219 obstetrics & reproductive medicine ,Actuarial science ,In vitro fertilisation ,medicine.diagnostic_test ,Health Policy ,Aneuploidy ,United States ,Issues, ethics and legal aspects ,Female ,Psychology ,Medicaid ,Insurance coverage - Abstract
Madison Kilbride recently argued that insurance (eg, Centers for Medicare & Medicaid Services (CMS)) should cover in vitro fertilisation with preimplantation genetic testing (IVF-PGT) services for couples at high risk of having a child affected with a genetic condition. She argues that IVF-PGT meets CMS’s definition of ‘medically necessary care’, where such care includes ‘services or supplies needed to diagnose or treat an illness, injury, condition, disease or its symptoms’. Kilbride argues that IVF-PGT satisfies this definition in two ways: as a diagnostic tool and as a treatment. Contradicting Kilbride, however, I argue that IVF-PGT provides neither diagnosis nor treatment under CMS’s definition. Thus, as long as we accept CMS’s definition of medically necessary care—which Kilbride does, explicitly—it follows that IVF-PGT does not count as medically necessary care. Still, there may be other reasons to conclude that IVF-Preimplantation genetic testing should be covered, and so, it would be a mistake to reject Kilbride’s conclusion altogether. The problem is simply that Kilbride’s argument—that the procedure should be covered because it is medically necessary per CMS’s definition—is not sound. I conclude by discussing a number of other genetic services that are not currently being covered despite the fact that (unlike IVF-PGT) they do seem to satisfy CMS’s definition of ‘medically necessary diagnosis or treatment’. These services, I argue, should be provided under CMS before we consider expanding coverage to include elective procedures such as IVF-PGT.
- Published
- 2021
7. Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease
- Author
-
Emily C Lisi, Reneé H. Moore, Nadia Ben Ali, Angela Wittenauer, Laura M. Davids, Yuxian Sun, and William R. Wilcox
- Subjects
medicine.medical_specialty ,Nurse practitioners ,Endocrinology, Diabetes and Metabolism ,Genetic counseling ,Health Personnel ,Population ,Disease ,Biochemistry ,Late Onset Disorders ,Endocrinology ,Neonatal Screening ,Medicalization ,Health care ,Genetics ,Medicine ,Humans ,education ,Molecular Biology ,Newborn screening ,education.field_of_study ,business.industry ,Glycogen Storage Disease Type II ,Infant, Newborn ,food and beverages ,Attitude ,Family medicine ,embryonic structures ,business ,Inclusion (education) ,Delivery of Health Care - Abstract
The addition of Pompe disease (PD) and other conditions with later-onset forms to newborn screening (NBS) in the United States (US) has been controversial. NBS technology cannot discern infantile-onset PD (IOPD) from later-onset PD (LOPD) without clinical follow-up. This study explores genetic health care practitioners' (HCPs) experiences and challenges providing NBS patient care throughout the US and their resultant opinions on NBS for PD. An online survey was distributed to genetic counselors, geneticists, NBS follow-up care coordinators, and nurse practitioners caring for patients with positive NBS results for PD. Analysis of 78 surveys revealed the majority of participating HCPs support inclusion of PD on NBS. Almost all HCPs (93.3%) feel their state has sufficient resources to provide follow-up medical care for IOPD; however, only three-fourths (74.6%) believed this for LOPD. Common barriers included time lag between NBS and confirmatory results, insurance difficulties for laboratory testing, and family difficulties in seeking medical care. HCPs more frequently encountered barriers providing care for LOPD than IOPD (53.9% LOPD identified ≥3 barriers, 31.1% IOPD). HCPs also believe creation of a population of presymptomatic individuals with LOPD creates a psychological burden on the family (87.3% agree/strongly agree), unnecessary medicalization of the child (63.5% agree/strongly agree), and parental hypervigilance (68.3% agree/strongly agree). Opinions were markedly divided on the use of reproductive benefit as a justification for NBS. Participants believe additional education for pediatricians and other specialists would be beneficial in providing care for patients with both IOPD and LOPD, in addition to the creation of evidence-based official guidelines for care and supportive resources for families with LOPD.
- Published
- 2021
8. Correlation between operator eye lens doses and transcatheter cardiovascular procedure characteristic: multi-parametric linear regression model
- Author
-
L. Fedeli, M. Betti, S. Bicchi, M. Benelli, M. Quattrocchi, M.A. Gilio, F. Rossi, S. Busoni, A. Taddeucci, M. Comeglio, M. Maioli, C. Lisi, F. Meucci, A. Vaiano, D. Fedele, L.N. Mazzoni, and L. Bernardi
- Subjects
Biophysics ,General Physics and Astronomy ,Radiology, Nuclear Medicine and imaging ,General Medicine - Published
- 2021
9. Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting
- Author
-
Konstantinos N. Lazaridis, Teresa M. Kruisselbrink, Ruchi Gupta, Stephanie S. Faubion, Jennifer L. Anderson, Robert A. Vierkant, Gianrico Farrugia, Corinne M. Berg, Ahmad H. Ali, Joan M. Steyermark, Erin M. Winkler, Stacy L. Aoudia, A. Keith Stewart, Therese M. Hughes, Emily C. Lisi, and Tammy M. McAllister
- Subjects
Male ,medicine.medical_specialty ,Heterozygote ,business.industry ,Genetic counseling ,MEDLINE ,Genetic Diseases, Inborn ,Genetic Counseling ,General Medicine ,Odds ratio ,Middle Aged ,Thrombophilia ,medicine.disease ,MUTYH ,Internal medicine ,medicine ,Factor V Leiden ,Humans ,Female ,Genetic Predisposition to Disease ,Personalized medicine ,Genetic Testing ,Family history ,business ,Retrospective Studies - Abstract
Objective To assess the presence of clinically actionable results and other genetic findings in an otherwise healthy population of adults seen in a medical practice setting and offered "predictive" genomic testing. Patients and Methods In 2014, a predictive genomics clinic for generally healthy adults was launched through the Mayo Clinic Executive Health Program. Self-identified interested patients met with a genomic nurse and genetic counselor for pretest advice and education. Two genome sequencing platforms and one gene panel–based health screen were offered. Posttest genetic counseling was available for patients who elected testing. From March 1, 2014, through June 1, 2019, 1281 patients were seen and 301 (23.5%) chose testing. Uptake rates increased to 36.3% [70 of 193]) in 2019 from 11.8% [2 of 17] in 2014. Clinically actionable results and genetic findings were analyzed using descriptive statistics. Results Clinically actionable results were detected in 11.6% of patients (35 of 301), and of those, 51.7% (15 of 29) with a cancer or cardiovascular result=did not have a personal or family history concerning for a hereditary disorder. The most common actionable results were in the BCHE, BRCA2, CHEK2, LDLR, MUTYH, and MYH7 genes. A carrier of at least one recessive condition was found in 53.8% of patients (162 of 301). At least one variant associated with multifactorial disease was found in 44.5% (134 of 301) (eg, 25 patients were heterozygous for the F5 factor V Leiden variant associated with thrombophilia risk). Conclusion Our predictive screening revealed that 11.6% of individuals will test positive for a clinically actionable, likely pathogenic/pathogenic variant. This finding suggests that wider knowledge and adoption of predictive genomic services could be beneficial in medical practice, although additional studies are needed.
- Published
- 2020
10. Newborn screening for Pompe disease: impact on families
- Author
-
Brianna Pruniski, Nadia Ben Ali, and Emily C. Lisi
- Subjects
Health Knowledge, Attitudes, Practice ,medicine.medical_specialty ,Coping (psychology) ,Mothers ,Disease ,Interviews as Topic ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,030225 pediatrics ,Adaptation, Psychological ,Health care ,Genetics ,medicine ,Humans ,Family ,Psychiatry ,Genetics (clinical) ,Newborn screening ,Glycogen Storage Disease Type II ,business.industry ,Infant, Newborn ,Family life ,Anxiety ,Female ,Age of onset ,medicine.symptom ,business ,Psychosocial ,030217 neurology & neurosurgery - Abstract
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience. The present study examines the effects of receiving a positive NBS result for PD on families. In-depth qualitative interviews were conducted with mothers of nine children (three IOPD and six LOPD) diagnosed via NBS, exploring their experiences, understanding of PD, how they are coping, and what impact diagnosis is having on family life. Interviews were coded using MaxQDA v.12 and analyzed for thematic trends. While overall opinion of NBS was favorable, it is clear many of the concerns anticipated by HCPs, patients, and families regarding NBS for late-onset LSDs are being realized to varying degrees; LOPD families are becoming patients-in-waiting. Increased fear/anxiety and living with uncertainty (regarding diagnosis, their children's future, and when to start treatment) were predominant themes, with all families voicing considerable emotional reactions and varied social and healthcare support concerns. Coping strategies and psychosocial challenges are interpreted using Rolland & Williams' Family Systems Genetic Illness model. Recommendations for improvement in delivery of service, as well as families' advice for future parents and HCPs, are discussed.
- Published
- 2018
11. The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene
- Author
-
Emily C. Lisi, Sarah Macklin, Elizabeth F. Smith, Dawn Laney, and Andrea M. Atherton
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,media_common.quotation_subject ,Genetic counseling ,030105 genetics & heredity ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Gla gene ,medicine ,Humans ,Clinical significance ,Genetic Testing ,Genetics (clinical) ,media_common ,business.industry ,Public health ,Infant, Newborn ,medicine.disease ,Fabry disease ,Human genetics ,Feeling ,alpha-Galactosidase ,Mutation ,Fabry Disease ,Female ,business ,Psychosocial ,Social psychology ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified. The goal of this project was to learn how the uncertainty surrounding the clinical significance of the p.A143T variant affects those with this change. A self-response questionnaire was developed to explore this topic. In addition to evaluating participant feelings, the questionnaire explored individuals' beliefs regarding the pathogenicity of the variant. Results suggest that people have diverse feelings regarding reclassification of the p.A143T variant. Around half of those surveyed reported feeling frustrated by the lack of clear information. Despite the ambiguity regarding the health consequences of this variant, many participants felt that knowing this result helps guide medical management.
- Published
- 2017
12. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases
- Author
-
Emily C. Lisi, Nadia Ben Ali, Dawn Laney, and Scott Gillespie
- Subjects
Adult ,Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Patients ,Endocrinology, Diabetes and Metabolism ,Mucopolysaccharidosis ,Disease ,030105 genetics & heredity ,Biochemistry ,03 medical and health sciences ,Neonatal Screening ,Endocrinology ,Disease severity ,Genetics ,medicine ,Humans ,Age of Onset ,Child ,Molecular Biology ,Newborn screening ,Gaucher Disease ,Glycogen Storage Disease Type II ,business.industry ,Infant, Newborn ,Life satisfaction ,Middle Aged ,medicine.disease ,Fabry disease ,Lysosomal Storage Diseases ,Potential harm ,Child, Preschool ,Fabry Disease ,Female ,business ,Healthcare providers - Abstract
Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families. In this study, 47 individuals with Fabry disease (FD), 22 with Gaucher disease (GD), and 22 with late-onset Pompe disease (LOPD) were surveyed regarding how their life might have been impacted by NBS. Of the 91 participants, none had symptoms at birth and 42 (46.7%) were symptom-free until adulthood. Over half (52.8%) were diagnosed ≥5years from symptom onset; of these, significantly more had FD (60%) or LOPD (63.6%) than GD (23.8%). However, length of diagnostic odyssey was not significantly correlated with opinion on NBS. Most participants either strongly agreed (45%) or agreed (33.3%) with NBS for their condition, with no significant differences between diseases. Opinions on NBS were correlated with participants' opinions on whether NBS would have resulted in better current health, but uncorrelated with disease severity or current life satisfaction. Significantly more participants with FD (42.6%) and LOPD (63.6%) than GD (13.6%) felt they would have greater life satisfaction had they been diagnosed as a newborn (p=0.007). Almost half (41%) of participants would have made different life decisions, including lifestyle, financial, and reproductive decisions. Regarding potential harm, participants were most concerned about insurability and least concerned about removal of children's autonomy. In conclusion, NBS is highly approved of among individuals with LSDs themselves, as it would significantly eliminate diagnostic odysseys and potentially alter life planning.
- Published
- 2016
13. 479Age-specific prevalence of cardiac structural alterations in a large consecutive cohort of athletes by pre-participation screening
- Author
-
M Galli, Niccolò Maurizi, Francesca Cecchi, I Olivotto, N Mochi, F Panzera, Gianfranco Parati, C Lisi, S Bianchi, M Baldi, and Silvia Castelletti
- Subjects
medicine.medical_specialty ,biology ,business.industry ,Athletes ,Internal medicine ,Cohort ,Medicine ,Cardiology and Cardiovascular Medicine ,business ,biology.organism_classification - Published
- 2018
14. Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers
- Author
-
Michael J. Gambello, Emily C. Lisi, Zoheb B. Kazi, Elizabeth Stenger, and Priya S. Kishnani
- Subjects
medicine.medical_treatment ,High sustained antibody titers ,Infantile Pompe disease ,Immune tolerance ,Bortezomib ,Endocrinology ,Genetics ,medicine ,lcsh:QH301-705.5 ,Molecular Biology ,lcsh:R5-920 ,biology ,business.industry ,Antibody titer ,Enzyme replacement therapy ,Immunotherapy ,Immune tolerance induction ,3. Good health ,lcsh:Biology (General) ,SI:Therapy ,Immunology ,Proteasome inhibitor ,biology.protein ,Rituximab ,Antibody ,lcsh:Medicine (General) ,business ,medicine.drug - Abstract
Enzyme replacement therapy (ERT) has led to a significant improvement in the clinical course of patients with infantile Pompe disease (IPD), an autosomal recessive glycogen storage disorder characterized by the deficiency in lysosomal acid α-glucosidase. A subset of IPD patients mounts a substantial immune response to ERT developing high sustained anti-rhGAA IgG antibody titers (HSAT) leading to the ineffectiveness of this treatment. HSAT have been challenging to treat, although preemptive approaches have shown success in high-risk patients (those who are cross-reactive immunological material [CRIM]-negative). More recently, the addition of bortezomib, a proteasome inhibitor known to target plasma cells, to immunotherapy with rituximab, methotrexate, and intravenous immunoglobulin has shown success at significantly reducing the anti-rhGAA antibody titers in three patients with HSAT. In this report, we present the successful use of a bortezomib-based approach in a CRIM-positive IPD patient with HSAT and the use of a preemptive approach to prevent immunologic response in an affected younger sibling. We highlight the significant difference in clinical course between the two patients, particularly that a pre-emptive approach was simple and effective in preventing the development of high antibody titers in the younger sibling, thus supporting the role of immune tolerance induction (ITI) in the ERT-naïve high-risk setting.
- Published
- 2015
- Full Text
- View/download PDF
15. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
- Author
-
Shawn E. McCandless and Emily C. Lisi
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Attitude of Health Personnel ,Genetic counseling ,Population ,030105 genetics & heredity ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,medicine ,Humans ,Genetic Testing ,Intensive care medicine ,education ,Genetics (clinical) ,Genetic testing ,education.field_of_study ,Newborn screening ,medicine.diagnostic_test ,business.industry ,Public health ,Infant, Newborn ,food and beverages ,Surgery ,Lysosomal Storage Diseases ,embryonic structures ,Female ,Age of onset ,business ,Healthcare providers ,030217 neurology & neurosurgery ,Qualitative research - Abstract
Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents' ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.
- Published
- 2015
16. Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature
- Author
-
Ronald D. Cohn and Emily C Lisi
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,business.industry ,Specialty ,food and beverages ,Diagnostic test ,Prognosis ,Hypotonia ,Recurrence risk ,Pediatric patient ,Developmental Neuroscience ,Pediatrics, Perinatology and Child Health ,Physical therapy ,Humans ,Muscle Hypotonia ,Medicine ,Treatment strategy ,Neurology (clinical) ,medicine.symptom ,Child ,business - Abstract
Aim Hypotonia is a symptom of diminished tone of skeletal muscle associated with decreased resistance of muscles to passive stretching, which can be caused by abnormalities of the central nervous system, any element of the lower motoneuron, or both. Hypotonia is not a specific diagnosis, but can be part of over 500 different genetic disorders, with many other conditions waiting to be identified. This review proposes a pragmatic approach to evaluating hypotonia in neonatal and pediatric populations by using a diagnostic algorithm. Method We use a dedicated literature review combined with clinical experience in a newly established multidisciplinary center for hypotonia to establish a diagnostic algorithm. Results Hypotonia can be a symptom of over 500 different genetic disorders. It can present as peripheral, central, or combined hypotonia, providing necessity for rational and systematic diagnostic testing. Interpretation Our analyses demonstrate that a staged diagnostic approach categorizing patients as having peripheral, central, or combined hypotonia is the most efficient to providing a rational work-up. Establishing a diagnosis is crucial for prognosis, management, and treatment strategies, and for ascertaining an accurate recurrence risk for future offspring in a family.
- Published
- 2011
17. 3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition
- Author
-
Feng Li, Ada Hamosh, Denise A.S. Batista, Emily C. Lisi, and Elizabeth Wohler
- Subjects
Adult ,Male ,Chromosomes, Artificial, Bacterial ,medicine.medical_specialty ,Pulmonic stenosis ,3q29 microdeletion syndrome ,Fathers ,Cognition ,Ductus arteriosus ,Internal medicine ,Genetics ,Humans ,Medicine ,Lymphocytes ,Ductus Arteriosus, Patent ,Cells, Cultured ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Comparative Genomic Hybridization ,business.industry ,Infant ,Chromosome Breakage ,Syndrome ,General Medicine ,Microdeletion syndrome ,Aortic Stenosis, Subvalvular ,Subtelomere ,medicine.disease ,medicine.anatomical_structure ,Endocrinology ,Databases as Topic ,Cardiology ,Chromosomes, Human, Pair 3 ,Chromosome Deletion ,Subvalvular Aortic Stenosis ,Chromosome breakage ,business ,Comparative genomic hybridization - Abstract
An inherited, interstitial subtelomere deletion of approximately 1.3-1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array comparative genomic hybridization (a-CGH). The imbalance was located within the common 3q29 microdeletion syndrome region and shared the distal breakpoint with prior published cases. However, our patient was developmentally normal at 6 months of age and his father is a functional adult, who had mild developmental delay in childhood. They presented with congenital cardiac defects including patent ductus arteriosus. In addition, the patient had subvalvular aortic stenosis and his father had pulmonic stenosis. These defects were not present in most of the previously reported 3q29 microdeletion cases. This case expands the phenotypic findings associated with 3q29 microdeletion syndrome, suggesting an association with cardiac defect. It also raises the possibility of normal cognition in adulthood.
- Published
- 2009
18. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function
- Author
-
Jonathan Pevsner, Julie Hoover-Fong, Emily C. Lisi, Nathaniel D. Miller, Elizabeth Wohler, Melonie A. Nance, and George H. Thomas
- Subjects
Male ,Candidate gene ,Hearing Loss, Sensorineural ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,Genetic determinism ,Gene mapping ,Genetics ,RefSeq ,Humans ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Chromosomes, Human, Pair 10 ,Genes, Homeobox ,Infant ,Chromosome ,Child, Preschool ,Ear, Inner ,Karyotyping ,Homeobox ,Female ,Vestibule, Labyrinth ,Chromosome Deletion ,Tomography, X-Ray Computed ,SNP array - Abstract
We report on the analyses of four unrelated patients with de novo, overlapping, hemizygous deletions of the long arm of chromosome 10. These include two small terminal deletions (10q26.2 to 10qter), a larger terminal deletion (10q26.12 to 10qter), and an interstitial deletion (10q25.3q26.13). Single nucleotide polymorphism (SNP) studies (Illumina 550 K) established that these deletions resulted in the hemizygous loss of approximately 6.1, approximately 6.1, approximately 12.5, and approximately 7.0 Mb respectively. Additionally, these data establish that Patients 1, 2, and 3 share common, distal, hemizygous deleted regions of 6.09 Mb containing 37 RefSeq genes. Patients 3 and 4 share a 2.52 Mb deleted region corresponding to the proximal deleted region of Patient 3 and the distal deleted region of Patient 4. This common, hemizygous region contains 20 RefSeq genes including two H6 family homeobox genes (HMX2 and HMX3). Based on previous reports that Hmx2/Hmx3 knockout mice have vestibular anomalies, we propose that hemizygous deletions of HMX2 and HMX3 are responsible for the inner ear malformations observed from CT images, vestibular dysfunction, and congenital sensorineural hearing loss found in Patients 3 and 4.
- Published
- 2009
19. Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion
- Author
-
Emily C. Lisi, Denise A.S. Batista, Reem Saadeh, Iain McIntosh, and Julie Hoover-Fong
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Microcephaly ,Developmental Disabilities ,Biology ,Article ,Developmental Neuroscience ,Angelman syndrome ,medicine ,Humans ,15q11 q13 ,Pigmentation disorder ,Genetics ,Chromosomes, Human, Pair 15 ,Cytogenetics ,Infant ,nutritional and metabolic diseases ,medicine.disease ,Dermatology ,Oculocutaneous albinism ,nervous system diseases ,Developmental disorder ,Neurology ,Albinism, Oculocutaneous ,Karyotyping ,Pediatrics, Perinatology and Child Health ,Albinism ,Female ,Neurology (clinical) ,Angelman Syndrome ,Prader-Willi Syndrome ,Gene Deletion - Abstract
We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, and tremulous movements. Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation.
- Published
- 2007
20. Impact of newborn screening on families in the case of Pompe disease
- Author
-
Nadia Ben Ali, Emily C. Lisi, and Brianna Pruniski
- Subjects
Pediatrics ,medicine.medical_specialty ,Newborn screening ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Genetics ,medicine ,Disease ,business ,Molecular Biology ,Biochemistry - Published
- 2017
21. A study to identify individuals at risk to be affected with late-onset Pompe disease with previous non-specific diagnoses
- Author
-
Hong Li, Taylor B. Harrison, Dawn J. Laney, Maria L. Keever, Emily C. Lisi, and Eleanor G. Botha
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Late onset ,Disease ,Biochemistry ,Endocrinology ,Non specific ,Genetics ,medicine ,Physical therapy ,Medical diagnosis ,business ,Molecular Biology - Published
- 2015
22. Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report
- Author
-
Emily C. Lisi, Allison Foley, and Suma P. Shankar
- Subjects
Genetics ,Endocrinology ,Unknown Significance ,Endocrinology, Diabetes and Metabolism ,Genetic counseling ,medicine ,Neuronal ceroid lipofuscinosis ,Biology ,medicine.disease ,Molecular Biology ,Biochemistry ,Exome sequencing - Published
- 2016
23. Impact of social media use in Fabry and Gaucher diseases
- Author
-
Amanda Hodgkins, Emily C. Lisi, and Nadia Ben Ali
- Subjects
Gerontology ,Endocrinology ,Endocrinology, Diabetes and Metabolism ,Genetics ,Social media ,Psychology ,Molecular Biology ,Biochemistry - Published
- 2016
24. Genomic analysis of partial 21q monosomies with variable phenotypes
- Author
-
Julie Hoover-Fong, Jay Leonard, Jonathan Pevsner, Elizabeth Wohler, Eric L. Stevens, Elisha D.O. Roberson, Ada Hamosh, George H. Thomas, and Emily C. Lisi
- Subjects
medicine.medical_specialty ,Monosomy ,Genotype ,Chromosomes, Human, Pair 21 ,Developmental Disabilities ,Short Report ,Single-nucleotide polymorphism ,Biology ,Bioinformatics ,Polymorphism, Single Nucleotide ,Intellectual Disability ,Genetics ,medicine ,SNP ,Humans ,Genotyping ,Genetics (clinical) ,Karyotype ,medicine.disease ,Phenotype ,Karyotyping ,Medical genetics ,Chromosome Deletion ,Chromosome 21 - Abstract
Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics with partial chromosome 21 monosomies. In two of these patients having terminal deletions (21q22.2-ter and 21q22.3-ter), the breakpoints differed by at least 812 Kb of sequence, containing seven RefSeq genes. A third patient had an interstitial hemizygous loss of 16.4 Mb (21q21.1–q22.11). All three patients had relatively mild phenotypes. Cohort B consisted of seven patients with partial chromosome 21 monosomies who had a greater number of dysmorphic features and some major malformations; SNP genotypes were obtained from the Coriell Genetic Cell Repository. We also collected data on partial monsomy 21 cases from the DECIPHER database. This report of 10 new cases of 21q deletion and review of a total of 36 confirms that deletion of the terminal region is associated with a mild phenotype, but suggests that deletion of regions 1 and 2 is compatible with life and have a variable phenotype perhaps relating more to other genetic and environmental variables than to genes in the interval.
- Published
- 2010
25. 3q29 interstitial microduplication: a new syndrome in a three-generation family
- Author
-
Rebecca Galczynski, Elizabeth E. Squibb, Emily C. Lisi, Ada Hamosh, Barbara Jackson, George H. Thomas, Kimberly F. Doheny, and Denise A.S. Batista
- Subjects
Adult ,Male ,Microcephaly ,Non-allelic homologous recombination ,Chromosome Disorders ,Biology ,Polymorphism, Single Nucleotide ,Gene mapping ,Gene Duplication ,Intellectual Disability ,Gene duplication ,Genetics ,medicine ,Humans ,Family ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Breakpoint ,Infant ,Low copy repeats ,Syndrome ,Middle Aged ,medicine.disease ,Pedigree ,Chromosome 3 ,Female ,Chromosomes, Human, Pair 3 ,3q29 microduplication - Abstract
Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.
- Published
- 2008
26. Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting
- Author
-
Priya S. Kishnani, Stephanie DeArmey, Emily C. Lisi, Zoheb B. Kazi, Elizabeth Stenger, and Kathryn B. Sheets
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism ,Genetics ,Molecular Biology ,Biochemistry - Published
- 2015
27. Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening
- Author
-
Dawn Laney, Val Long, and Emily C. Lisi
- Subjects
Pediatrics ,medicine.medical_specialty ,Newborn screening ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Genetics ,medicine ,business ,Molecular Biology ,Biochemistry - Published
- 2015
28. Trabeculae bone structure analysis in individuals affected by type 1 Gaucher disease using micro magnetic resonance imaging
- Author
-
Valynne Long, Elie Harmouche, Dawn Laney, Yegor Podgorsky, Michael R. Terk, Michael J. Gambello, Jad Chamieh, Emily C. Lisi, Gulshan B. Sharma, Douglas D. Robertson, and Minzhi Xing
- Subjects
Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Endocrinology, Diabetes and Metabolism ,Type 1 Gaucher Disease ,Magnetic resonance imaging ,Biochemistry ,Endocrinology ,Genetics ,medicine ,business ,Molecular Biology ,Bone structure - Published
- 2015
29. Attitudes and experiences of healthcare providers regarding newborn screening for lysosomal disorders
- Author
-
Emily C. Lisi, Aaron J. Goldenberg, and Shawn E. McCandless
- Subjects
medicine.medical_specialty ,Newborn screening ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Family medicine ,Genetics ,Medicine ,business ,Molecular Biology ,Biochemistry ,Healthcare providers - Published
- 2014
30. [The archives of the section of history of medicine]
- Author
-
C, Lisi and I, Bonincontro
- Subjects
Italy ,Universities ,Archives ,Humans ,Historiography ,History, 19th Century ,History, 20th Century ,Malaria - Abstract
The Section of History of Medicine of the Department of Experimental Medicine and Pathology of the Rome University "La Sapienza" keeps the Archives of Angelo Celli, Amico and Francesco Bignami, Giuseppe Sanarelli. The Archives, primarily composed by medical notes, note books, correspondence, have been reorganized and an inventory has been made and computerized. The documents of the scientists Celli and Bignami testify their contribution to the study of malaria and of the pathological anatomy of the infection; Sanarelli's notebooks allow to reconstruct his scientific career. During the inventory, various groups of documents belonging to Alessandro Solivetti (1834-1893), Francesco Todaro (1839-1912), Giorgio Roster (1843-1927), Giuklio Bizzozero (1846-1901), Angelo Maffucci (1847-1903), Ettore Marchiafava (1847-1935), Giovanni Battista Grassi (1854-1925), Giovanni Mingazzini (1859-1929), Giuseppe Bastianelli (1862-1959), Vittorio Ascoli (1863-1931), Raffaele Bastianelli (1863-1961), Guiseppe Ovio (1863-1957), Vittorio Puntoni (1887-1970), Pietro Di Mattei (1896) have been found.
- Published
- 2001
31. Complications following surgery for severe head injury
- Author
-
G, Spanu, R, Rodriguez y Baena, D, Latella, E, Dalla Toffola, C, Lisi, N, Bonfanti, and A L, Messina
- Subjects
Adult ,Male ,Brain Diseases ,Postoperative Complications ,Adolescent ,Seizures ,Craniocerebral Trauma ,Humans ,Female ,Atrophy ,Dilatation, Pathologic - Abstract
The number of patients who survive, after severe head injuries, is becoming more and more consistent due to the remarkable progress made in intensive care and rehabilitation units. The aim of this study is to identify, in addition to direct structural damage, medical and neurological problems and describe their frequency within a group of patients with severe head injuries. Neurologic, metabolic, gastrointestinal, genitourinary, respiratory, cardiovascular, cutaneous and endocrinologic problems were more frequently found. All these problems, which were identified during the first month after head injury, are discussed regarding their clinical significance, therapeutic approach, and morbidity.
- Published
- 1987
32. Genomics Integration Into Nephrology Practice
- Author
-
Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, and Marie C. Hogan
- Subjects
Genomics ,individualized medicine ,nephrology ,Diseases of the genitourinary system. Urology ,RC870-923 - Abstract
Rationale & Objective: The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identify the etiology of unexplained CKD. Study Design: Retrospective study. Setting & Participants: An essential component of our program is the Nephrology Genomics Board which consists of nephrologists, geneticists, pathologists, translational omics scientists, and trainees who interpret the patient’s clinical and genetic data. Since September 2016, the Board has reviewed 163 cases (15 cystic, 100 glomerular, 6 congenital anomalies of kidney and urinary tract (CAKUT), 20 stones, 15 tubulointerstitial, and 13 other). Analytical Approach: Testing was performed with targeted panels, single gene analysis, or analysis of kidney-related genes from exome sequencing. Variant classification was obtained based on the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines. Results: A definitive genetic diagnosis was achieved for 50 families (30.7%). The highest diagnostic yield was obtained in individuals with tubulointerstitial diseases (53.3%), followed by congenital anomalies of the kidney and urological tract (33.3%), glomerular (31%), cysts (26.7%), stones (25%), and others (15.4%). A further 20 (12.3%) patients had variants of interest, and variant segregation, and research activities (exome, genome, or transcriptome sequencing) are ongoing for 44 (40%) unresolved families. Limitations: Possible overestimation of diagnostic rate due to inclusion of individuals with variants with evidence of pathogenicity but classified as of uncertain significance by the clinical laboratory. Conclusions: Integration of genomic and research testing and multidisciplinary evaluation in a nephrology cohort with CKD of unknown etiology or suspected monogenic disease provided a diagnosis in a third of families. These diagnoses had prognostic implications, and often changes in management were implemented.
- Published
- 2021
- Full Text
- View/download PDF
33. Five-year follow-up of children with perinatal HIV-1 infection receiving early highly active antiretroviral therapy
- Author
-
Author:, Chiappini, Galli, E, Tovo, L, Gabiano, Pa, Lisi, C, Bernardi, C, Vigano, S, Guarino, A, Giaquinto, A, Esposito, C, Badolato, S, R, Bari, Di, Rosso, C, Genovese, R, Masi, O, Mazza, M, A, Martino, De, Italian Register for HIV Infection Other Partecipants: Osimani, M., Cordiali, P, Mattia, De, Manzinonna, D, M, Ruggeri, C, Masi, M, Miniaci, M, Specchia, A, Ciccia, F, Lanari, M, Baldi, M, Battisti, F, Bertulli, L, Dessì, C, Pintor, C, Dedoni, C, Fenu, M, Cavallini, Ml, Anastasio, R, Magnolia, E, Sticca, Mg, Pomero, M, Bezzi, G, Fiumana, T, Bonsignori, E, F, Gaudio, De, Gervaso, M, Cecchi, P, Viscoli, Mt, Cosso, C, Timitilli, D, Stronati, A, Plebani, M, Semino, A, Tei, M, Giacomet, F, Pivetti, V, Salvini, V, Zuccotti, F, Giovannini, Gv, Ferraris, M, Liprieri, G, Moretti, R, Cellini, C, Cano, M, Paolucci, Mc, Bruzzese, P, Giannattasio, E, Tarallo, A, Tancredi, L, Pennazzato, F, Rampon, M, O, Dalle, Nogare, Sanfilippo, Er, Romano, A, Saitta, M, Dodi, I, Bandello, M, Maccabruni, A, Felici, L, Consolini, Rita, Chiappini E., Galli L., Tovo PA., Gabiano C., Lisi C., Bernardi S., Viganò A., Guarino A., Giaquinto C., Esposito S., Badolato R., Di Bari C., Rosso R., Genovese O., Masi M., Mazza A., de Martino M., Specchia F., Molesini M., Chiappini, E., Galli, L., Tovo, P. -A., Gabiano, C., Lisi, C., Bernardi, S., Vigano, A., Guarino, A., Giaquinto, C., Esposito, S., Badolato, R., Di Bari, C., Rosso, R., Genovese, O., Masi, M., Mazza, A., and De Martino, M.
- Subjects
medicine.medical_specialty ,Pediatrics ,Anti-HIV Agents ,HIV Infections ,Follow-Up Studie ,lcsh:Infectious and parasitic diseases ,Pharmacotherapy ,Medical microbiology ,Interquartile range ,Antiretroviral Therapy, Highly Active ,medicine ,Humans ,HIV Infection ,lcsh:RC109-216 ,Child ,Pregnancy ,business.industry ,Anti-HIV Agent ,Infant ,Viral Load ,medicine.disease ,Antiretroviral therapy ,hiv children ,CD4 Lymphocyte Count ,Regimen ,Infectious Diseases ,Italy ,Child, Preschool ,Tropical medicine ,Immunology ,HIV-1 ,RNA, Viral ,business ,Viral load ,Research Article ,Follow-Up Studies ,Human - Abstract
Background Early highly active antiretroviral therapy (HAART), started within the first months of age, has been proven to be the optimal strategy to prevent immunological and clinical deterioration in perinatally HIV-infected children. Nevertheless, data about long-term follow-up of early treated children are lacking. Methods We report data from 40 perinatally HIV-infected-children receiving early HAART, with a median follow-up period of 5.96 years (interquartile range [IQR]:4.21–7.62). Children were enrolled at birth in the Italian Register for HIV Infection in Children. Comparison with 91 infected children born in the same period, followed-up from birth, and receiving deferred treatment was also provided. Results Nineteen children (47.5%) were still receiving their first HAART regimen at last follow-up. In the remaining children the first regimen was discontinued, after a median period of 3.77 years (IQR: 1.71–5.71) because of viral failure (8 cases), liver toxicity (1 case), structured therapy interruption (3 cases), or simplification/switch to a PI-sparing regimen (9 cases). Thirty-nine (97.5%) children showed CD4+ T-lymphocyte values>25%, and undetectable viral load was reached in 31 (77.5%) children at last visit. Early treated children displayed significantly lower viral load than not-early treated children, until 6 years of age, and higher median CD4+ T-lymphocyte percentages until 4 years of age. Twenty-seven (29.7%) not-early treated vs. 0/40 early treated children were in clinical category C at last follow-up (P < 0.0001). Conclusion Our findings suggest that clinical, virologic and immunological advantages from early-HAART are long-lasting. Recommendations indicating the long-term management of early treated children are needed.
- Published
- 2009
34. The pericoronary adipose tissue attenuation in CT strongly depends on kernels and iterative reconstructions.
- Author
-
Lisi C, Klambauer K, Moser LJ, Mergen V, Manka R, Flohr T, Eberhard M, and Alkadhi H
- Abstract
Objectives: To investigate the influence of kernels and iterative reconstructions on pericoronary adipose tissue (PCAT) attenuation in coronary CT angiography (CCTA)., Materials and Methods: Twenty otherwise healthy subjects (16 females; median age 52 years) with atypical chest pain, low risk of coronary artery disease (CAD), and without CAD in photon-counting detector CCTA were included. Images were reconstructed with a quantitative smooth (Qr36) and three vascular kernels of increasing sharpness levels (Bv36, Bv44, Bv56). Quantum iterative reconstruction (QIR) was either switched-off (QIRoff) or was used with strength levels 2 and 4. The fat-attenuation-index (FAI) of the PCAT surrounding the right coronary artery was calculated in each dataset. Histograms of FAI measurements were created. Intra- and inter-reader agreements were determined. A CT edge phantom was used to determine the edge spread function (ESF) for the same datasets., Results: Intra- and inter-reader agreement of FAI was excellent (intra-class correlation coefficient = 0.99 and 0.98, respectively). Significant differences in FAI were observed depending on the kernel and iterative reconstruction strength level (each, p < 0.001), with considerable inter-individual variation up to 34 HU and intra-individual variation up to 33 HU, depending on kernels and iterative reconstruction levels. The ESFs showed a reduced range of edge-smoothing with increasing kernel sharpness, causing an FAI decrease. Histogram analyses revealed a narrower peak of PCAT values with increasing iterative reconstruction levels, causing a FAI increase., Conclusions: PCAT attenuation determined with CCTA heavily depends on kernels and iterative reconstruction levels both within and across subjects. Standardization of CT reconstruction parameters is mandatory for FAI studies to enable meaningful interpretations., Key Points: Question Do kernels and iterative reconstructions influence pericoronary adipose tissue (PCAT) attenuation in coronary CT angiography (CCTA)? Findings Significant differences in fat-attenuation-index (FAI) were observed depending on the kernel and iterative reconstruction strength level with considerable inter- and intra-individual variation. Clinical relevance PCAT attenuation heavily depends on kernels and iterative reconstructions requiring CT reconstruction parameter standardization to enable meaningful interpretations of fat-attenuation differences across subjects., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
35. Prognostic value of stress CMR and SPECT-MPI in patients undergoing intermediate-to-high-risk non-cardiac surgery.
- Author
-
Fazzari F, Lisi C, Catapano F, Cannata F, Brilli F, Figliozzi S, Bragato RM, Stefanini GG, Monti L, and Francone M
- Subjects
- Humans, Female, Male, Retrospective Studies, Aged, Middle Aged, Prognosis, Magnetic Resonance Imaging methods, Postoperative Complications diagnostic imaging, Risk Factors, Tomography, Emission-Computed, Single-Photon methods, Myocardial Perfusion Imaging methods, Exercise Test, Coronary Artery Disease diagnostic imaging, Coronary Artery Disease surgery
- Abstract
Purpose: The objective of this study was to investigate the role of myocardial perfusion imaging (MPI) stress tests using stress cardiac magnetic resonance (sCMR) and single-photon emission computed tomography myocardial perfusion imaging (SPECT-MPI) in non-cardiac surgery (NCS) pre-operatory management., Materials and Methods: This monocentric retrospective study enrolled patients with coronary artery disease or a minimum of two cardiovascular risk factors undergoing intermediate-to-high-risk non-cardiac surgeries. The primary composite endpoint comprised cardiac death, cardiogenic shock, acute coronary syndromes (ACS), and cardiogenic pulmonary edema occurring within 30 days after surgery, while the secondary endpoint was ACS., Results: A total of 1590 patients were enrolled; among them, 669 underwent a MPI stress test strategy (sCMR: 287, SPECT-MPI: 382). The incidence of 30-day cardiac events was lower in the stress-tested group compared to the non-stress-tested group (1.2% vs. 3.4%; p 0.006). Adopting a stress test strategy showed a significant reduction in the risk of the composite endpoint (OR: 0.33, 95% CI: 0.15-0.76, p 0.009) and ACS (OR: 0.41, 95% CI: 0.17-0.98, p 0.046) at multivariable analysis, with similar cardiac events rate between stress CMR and SPECT (1.1% vs. 1.3%, p 0.756). Stress CMR showed a greater accuracy to predict coronary artery revascularizations (sCMR c-statistic: 0.95, ischemic cut-point: 5.5%; SPECT c-statistic: 0.85, ischemic cut-point: 7.5%)., Conclusion: Stress test strategy is related to a lower occurrence of cardiac events in high-risk patients scheduled for intermediate-to-high-risk non-cardiac surgeries. Both sCMR and SPECT-MPI comparably reduce the likelihood of cardiac complications, albeit sCMR offers greater accuracy in predicting coronary artery revascularization., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
36. Advanced myocardial characterization and function with cardiac CT.
- Author
-
Lisi C, Moser LJ, Mergen V, Klambauer K, Uçar E, Eberhard M, and Alkadhi H
- Abstract
Non-invasive imaging with characterization and quantification of the myocardium with computed tomography (CT) became feasible owing to recent technical developments in CT technology. Cardiac CT can serve as an alternative modality when cardiac magnetic resonance imaging and/or echocardiography are contraindicated, not feasible, inconclusive, or non-diagnostic. This review summarizes the current and potential future role of cardiac CT for myocardial characterization including a summary of late enhancement techniques, extracellular volume quantification, and strain analysis. In addition, this review highlights potential fields for research about myocardial characterization with CT to possibly include it in clinical routine in the future., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
37. Role of Cine-Magnetic Resonance Imaging in the Assessment of Mediastinal Masses with Uncertain/Equivocal Findings from Pre-Operative Computed Tomography Scanning.
- Author
-
Cariboni U, Monti L, Voulaz E, Civilini E, Citterio E, Lisi C, and Marulli G
- Abstract
Background: Malignant neoplasms originating from or involving the mediastinum represent a diagnostic and therapeutic challenge when they are in contact with nearby cardiovascular structures. We aimed to test the diagnostic accuracy of cine-magnetic resonance imaging (cine-MRI) in detecting the infiltration of cardiovascular structures in cases with uncertain or equivocal findings from contrast-enhanced Computed Tomography (CT) scanning., Methods: Fifty patients affected by tumors with a suspected invasion of mediastinal cardiovascular structures at the pre-operative chest CT scan stage underwent cine-MRI before surgery at our Institution. Intraoperative findings and the histological post-surgical report were used as a reference standard to define infiltration. Inter- and intra-observer agreement for CT scans and cine-MRI were also computed over a homogenous sample of 14 patients., Results: Cine-MRI had a higher negative predictive value (93% vs. 54%, p < 0.001) than CT scans, higher sensitivity (91% vs. 16%, p < 0.001), as well as greater accuracy (66% vs. 50%, p < 0.001) in detecting cardiovascular invasion. Cine-MRI also showed better inter- and intra-observer agreement for infiltration detection., Conclusions: Cine-MRI outperforms conventional contrast-enhanced chest CT scans in the preoperative assessment of cardiovascular infiltration by mediastinal or pulmonary tumors, making it a useful imaging modality in the preoperative staging and evaluation of patients with equivocal findings at the chest CT scan stage.
- Published
- 2024
- Full Text
- View/download PDF
38. Mitral annulus disjunction in consecutive patients undergoing cardiovascular magnetic resonance: Where is the boundary between normality and disease?
- Author
-
Figliozzi S, Stankowski K, Tondi L, Catapano F, Gitto M, Lisi C, Bombace S, Olivieri M, Cannata F, Fazzari F, Bragato RM, Georgiopoulos G, Masci PG, Monti L, Condorelli G, and Francone M
- Abstract
Background: The presence of mitral annulus disjunction (MAD) has been considered a high-risk feature for sudden cardiac death based on selected study populations. We aimed to assess the prevalence of MAD in consecutive patients undergoing clinically indicated cardiovascular magnetic resonance (CMR), its association with ventricular arrhythmias, mitral valve prolapse (MVP), and other CMR features., Methods: This single-center retrospective study included consecutive patients referred to CMR at our institution between June 2021 and November 2021. MAD was defined as a ≥1 mm displacement between the left atrial wall-mitral valve leaflet junction and the left ventricular wall during end-systole. MAD extent was defined as the maximum longitudinal displacement. Associates of MAD were evaluated at univariable and multivariable regression analysis. The study endpoint, a composite of (aborted) sudden cardiac death, unexplained syncope, and sustained ventricular tachycardia, was evaluated at a 12-month follow-up., Results: Four hundred and forty-one patients 55 ± 18 years, 267/441 (61%) males) were included, and 29/441 (7%) had MVP. The prevalence of MAD ≥1 mm, 4 mm, and 6 mm was 214/441 (49%), 63/441 (14%), and 15/441 (3%), respectively. Patients with MVP showed a higher prevalence of MAD greater than 1 mm (26/29 (90%) vs 118/412 (46%)); p < 0.001), 4 mm (14/29 (48%) vs 49/412 (12%)); p < 0.001), and 6 mm (3/29 (10%) vs 12/412 (3%)); p = 0.03), and a greater MAD extent (4.2 mm, 3.0-5.7 mm vs 2.8 mm, 1.9-4.0 mm; p < 0.001) compared to patients without MVP. MVP was the only morpho-functional abnormality associated with MAD at multivariable analysis (p < 0.001). A high burden of ventricular ectopic beats at baseline Holter-electrocardiogram was associated with MAD ≥4 mm and MAD extent (p < 0.05). The presence of MAD ≥1 mm (0.9% vs 1.8%; p = 0.46), MAD ≥4 mm (1.6% vs 1.3%; p = 0.87), or MVP (3.5% vs 1.2%; p = 0.32) were not associated with the study endpoint, whereas patients with MAD ≥6 mm showed a trend toward a higher likelihood of the study endpoint (6.7% vs 1.2%; p = 0.07)., Conclusion: MAD of limited severity was common in consecutive patients undergoing CMR. Patients with MVP showed higher prevalence and greater extent of MAD. Extended MAD was rarer and showed association with ventricular arrhythmias at baseline. The mid-term prognosis of MAD seems benign; however, prospective studies are warranted to search for potential "malignant MAD extents" to improve patients' risk stratification., Competing Interests: Declaration of competing interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
39. CT imaging post-TAVI: Murphy's first law in action-preparing to recognize the unexpected.
- Author
-
Lisi C, Catapano F, Brilli F, Scialò V, Corghi E, Figliozzi S, Cozzi OF, Monti L, Stefanini GG, and Francone M
- Abstract
Transfemoral aortic valve implantation (TAVI) has been long considered the standard of therapy for high-risk patients with severe aortic-stenosis and is now effectively employed in place of surgical aortic valve replacement also in intermediate-risk patients. The potential lasting consequences of minor complications, which might have limited impact on elderly patients, could be more noteworthy in the longer term when occurring in younger individuals. That's why a greater focus on early diagnosis, correct management, and prevention of post-procedural complications is key to achieve satisfactory results. ECG-triggered multidetector computed tomography angiography (CTA) is the mainstay imaging modality for pre-procedural planning of TAVI and is also used for post-interventional early detection of both acute and long-term complications. CTA allows detailed morphological analysis of the valve and its movement throughout the entire cardiac cycle. Moreover, stent position, coronary artery branches, and integrity of the aortic root can be precisely evaluated. Imaging reliability implies the correct technical setting of the computed tomography scan, knowledge of valve type, normal post-interventional findings, and awareness of classic and life-threatening complications after a TAVI procedure. This educational review discusses the main post-procedural complications of TAVI with a specific imaging focus, trying to clearly describe the technical aspects of CTA Imaging in post-TAVI and its clinical applications and challenges, with a final focus on future perspectives and emerging technologies. CRITICAL RELEVANCE STATEMENT: This review undertakes an analysis of the role computed tomography angiography (CTA) plays in the assessment of post-TAVI complications. Highlighting the educational issues related to the topic, empowers radiologists to refine their clinical approach, contributing to enhanced patient care. KEY POINTS: Prompt recognition of TAVI complications, ranging from value issues to death, is crucial. Adherence to recommended scanning protocols, and the optimization of tailored protocols, is essential. CTA is central in the diagnosis of TAVI complications and functions as a gatekeeper to treatment., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
40. Increasing the rate of datasets amenable to CT FFR and quantitative plaque analysis: Value of software for reducing stair-step artifacts demonstrated in photon-counting detector CT.
- Author
-
Lisi C, Moser LJ, Mergen V, Flohr T, Eberhard M, and Alkadhi H
- Abstract
Purpose: To determine the value of an algorithm for reducing stair-step artifacts for advanced coronary analyses in sequential mode coronary CT angiography (CCTA)., Methods: Forty patients undergoing sequential mode photon-counting detector CCTA with at least one stair-step artifact were included. Twenty patients (14 males; mean age 57±17years) with 45 segments showing stair-step artifacts and without atherosclerosis were included for CT
FFR analysis. Twenty patients (20 males; mean age 74±13years) with 22 segments showing stair-step artifacts crossing an atherosclerotic plaque were included for quantitative plaque analysis. Artifacts were graded, and CTFFR and quantitative coronary plaque analyses were performed in standard reconstructions and in those reconstructed with a software (entitled ZeeFree ) for artifact reduction., Results: Stair-step artifacts were significantly reduced in ZeeFree compared to standard reconstructions (p<0.05). In standard reconstructions, CTFFR was not feasible in 3/45 (7 %) segments but was feasible in all ZeeFree reconstructions. In 9/45 (20 %) segments without atherosclerosis, the ZeeFree algorithm led to a change of CTFFR values from pathologic in standard to physiologic values in ZeeFree reconstructions. In one segment (1/22, 5 %), quantitative plaque analysis was not feasible in standard but only in ZeeFree reconstruction. The mean overall plaque volume (111±60 mm3 ), the calcific (77±47 mm3 ), fibrotic (31±28 mm3 ), and lipidic (4±3 mm3 ) plaque components were higher in standard than in ZeeFree reconstructions (overall 75±50 mm3 , p<0.001; calcific 51±42 mm3 , p<0.001; fibrotic 22±19 mm3 , p<0.05; lipidic 3±3 mm3 , p=0.055)., Conclusion: Despite the lack of reference standard modalities for CTFFR and coronary plaque analysis, initial evidence indicates that an algorithm for reducing stair-step artifacts in sequential mode CCTA increases the rate and quality of datasets amenable to advanced coronary artery analysis, hereby potentially improving patient management., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Diagnostic and Interventional Radiology Department of University Hospital Zurich reports a relationship with Bayer, Canon, Guerbet, Siemens that includes: funding grants. Hatem Alkadhi and Matthias Eberhard report a relationship with Siemens Healthineers AG that includes: speaking Honorarium., (© 2024 The Authors.)- Published
- 2024
- Full Text
- View/download PDF
41. A prospective, multicenter study on hematopoietic stemcell mobilization with cyclophosphamide plus granulocyte colony-stimulating factor and 'on-demand' plerixafor in multiple myeloma patients treated with novel agents.
- Author
-
Mina R, Petrucci MT, Bonello F, Bongarzoni V, Saccardi R, Bertuglia G, Mengarelli A, Spadaro A, Lisi C, Curci P, Lemoli RM, Ballanti S, Floris R, Cupelli L, Tosi P, Olivieri A, Rota-Scalabrini D, Cangialosi C, Nozzoli C, Anaclerico B, Fazio F, Bruno B, Mancuso K, Corradini P, Milone G, and Boccadoro M
- Subjects
- Humans, Middle Aged, Male, Female, Aged, Prospective Studies, Adult, Hematopoietic Stem Cell Transplantation methods, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Antineoplastic Combined Chemotherapy Protocols adverse effects, Transplantation, Autologous, Treatment Outcome, Multiple Myeloma therapy, Hematopoietic Stem Cell Mobilization methods, Cyclams administration & dosage, Cyclams therapeutic use, Benzylamines, Cyclophosphamide therapeutic use, Cyclophosphamide administration & dosage, Granulocyte Colony-Stimulating Factor administration & dosage, Granulocyte Colony-Stimulating Factor therapeutic use, Heterocyclic Compounds administration & dosage, Heterocyclic Compounds therapeutic use
- Abstract
High-dose melphalan plus autologous stem cell transplantation (ASCT) is a standard of care for transplant-eligible patients with newly diagnosed multiple myeloma (NDMM), and adequate hematopoietic stem cell (HSC) collection is crucial to ensure hematologic recovery after ASCT. In this prospective, observational study we evaluated HSC mobilization with granulocyte colony-stimulating factor (G-CSF), cyclophosphamide, and 'on-demand' plerixafor (in patients with <20×106 CD34+ cells/L after at least 4 days of G-CSF or failing to collect ≥1×106 CD34+ cells/kg after the first apheresis) in NDMM patients treated with novel agent-based induction therapy. The primary endpoint was the rate of poor mobilizers (patients collecting <2×106 CD34+ cells/kg or requiring plerixafor rescue to reach an adequate HSC harvest). Secondary endpoints included the rate of patients collecting ≥2×106 CD34+ cells/kg after plerixafor administration and the identification of factors predicting mobilization failure or plerixafor need. Overall, 301 patients (median age 60 years) were enrolled. Two hundred and eighty-seven of 301 (95%) and 274 of 301 (93%) patients collected ≥2×106 and ≥4×106 CD34+ cells/kg, respectively, with a median of 9.9×106 CD34+ cells/kg collected. Poor mobilizers were 48 of 301 (16%): 34 of 301 (11%) required plerixafor rescue, and 14 of 301 (5%) failed HSC collection regardless of plerixafor. Thirty-four of 38 (90%) patients receiving plerixafor collected ≥2×106 CD34+ cells/kg. Bone marrow plasmacytosis at diagnosis >60% (odds ratio [OR]=4.14), lenalidomide use (OR=4.45), and grade 3-4 hematologic toxicities during induction (OR=3.53) were independently associated with a higher risk of mobilization failure or plerixafor need. Cyclophosphamide plus G-CSF and 'on-demand' plerixafor is an effective strategy in NDMM patients treated with novel agents, resulting in a high rate of HSC collection and high HSC yield (clinicaltrials gov. identifier: NCT03406091).
- Published
- 2024
- Full Text
- View/download PDF
42. Multiparametric Mapping via Cardiovascular Magnetic Resonance in the Risk Stratification of Ventricular Arrhythmias and Sudden Cardiac Death.
- Author
-
Lo Monaco M, Stankowski K, Figliozzi S, Nicoli F, Scialò V, Gad A, Lisi C, Marchini F, Dellino CM, Mollace R, Catapano F, Stefanini GG, Monti L, Condorelli G, Bertella E, and Francone M
- Subjects
- Humans, Risk Assessment methods, Magnetic Resonance Imaging methods, Defibrillators, Implantable, Tachycardia, Ventricular complications, Death, Sudden, Cardiac prevention & control, Death, Sudden, Cardiac etiology, Arrhythmias, Cardiac complications
- Abstract
Risk stratification for malignant ventricular arrhythmias and sudden cardiac death is a daunting task for physicians in daily practice. Multiparametric mapping sequences obtained via cardiovascular magnetic resonance imaging can improve the risk stratification for malignant ventricular arrhythmias by unveiling the presence of pathophysiological pro-arrhythmogenic processes. However, their employment in clinical practice is still restricted. The present review explores the current evidence supporting the association between mapping abnormalities and the risk of ventricular arrhythmias in several cardiovascular diseases. The key message is that further clinical studies are needed to test the additional value of mapping techniques beyond conventional cardiovascular magnetic resonance imaging for selecting patients eligible for an implantable cardioverter defibrillator.
- Published
- 2024
- Full Text
- View/download PDF
43. Deep Learning Image Reconstruction Algorithm for CCTA: Image Quality Assessment and Clinical Application.
- Author
-
Catapano F, Lisi C, Savini G, Olivieri M, Figliozzi S, Caracciolo A, Monti L, and Francone M
- Subjects
- Humans, Artificial Intelligence, Prospective Studies, Reproducibility of Results, Radiographic Image Interpretation, Computer-Assisted methods, Radiation Dosage, Algorithms, Image Processing, Computer-Assisted, Computed Tomography Angiography, Deep Learning
- Abstract
Objective: The increasing number of coronary computed tomography angiography (CCTA) requests raised concerns about dose exposure. New dose reduction strategies based on artificial intelligence have been proposed to overcome limitations of iterative reconstruction (IR) algorithms. Our prospective study sought to explore the added value of deep-learning image reconstruction (DLIR) in comparison with a hybrid IR algorithm (adaptive statistical iterative reconstruction-veo [ASiR-V]) in CCTA, even in clinical challenging scenarios, as obesity, heavily calcified vessels and coronary stents., Methods: We prospectively included 103 consecutive patients who underwent CCTA. Data sets were reconstructed with ASiR-V and DLIR. For each reconstruction signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) was calculated, and qualitative assessment was made with a four-point Likert scale by two independent and blinded radiologists with different expertise., Results: Both SNR and CNR were significantly higher in DLIR (SNR-DLIR median value [interquartile range] of 13.89 [11.06-16.35] and SNR-ASiR-V 25.42 [22.46-32.22], P < 0.001; CNR-DLIR 16.84 [9.83-27.08] vs CNR-ASiR-V 10.09 [5.69-13.5], P < 0.001).Median qualitative score was 4 for DLIR images versus 3 for ASiR-V ( P < 0.001), with a good interreader reliability [intraclass correlation coefficient(2,1)e intraclass correlation coefficient(3,1) 0.60 for DLIR and 0.62 and 0.73 for ASiR-V].In the obese and in the "calcifications and stents" groups, DLIR showed significantly higher values of SNR (24.23 vs 11.11, P < 0.001 and 24.55 vs 14.09, P < 0.001, respectively) and CNR (16.08 vs 8.04, P = 0.008 and 17.31 vs 10.14, P = 0.003) and image quality., Conclusions: Deep-learning image reconstruction in CCTA allows better SNR, CNR, and qualitative assessment than ASiR-V, with an added value in the most challenging clinical scenarios., Competing Interests: The authors declare that they have no conflict of interests., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
44. Cardiac Masses and Pseudomasses: An Overview about Diagnostic Imaging and Clinical Background.
- Author
-
Tagliati C, Fogante M, Palmisano A, Catapano F, Lisi C, Monti L, Lanni G, Cerimele F, Bernardini A, Procaccini L, Argalia G, Esposto Pirani P, Marcucci M, Rebonato A, Cerimele C, Luciano A, Cesarotto M, Belgrano M, Pagnan L, Sarno A, Cova MA, Ventura F, Regnicolo L, Polonara G, Uguccioni L, Quaranta A, Balardi L, Barbarossa A, Stronati G, Guerra F, Chiocchi M, Francone M, Esposito A, and Schicchi N
- Subjects
- Humans, Tomography, X-Ray Computed, Computed Tomography Angiography, Coronary Angiography, Coronary Artery Disease diagnostic imaging
- Abstract
A cardiac lesion detected at ultrasonography might turn out to be a normal structure, a benign tumor or rarely a malignancy, and lesion characterization is very important to appropriately manage the lesion itself. The exact relationship of the mass with coronary arteries and the knowledge of possible concomitant coronary artery disease are necessary preoperative information. Moreover, the increasingly performed coronary CT angiography to evaluate non-invasively coronary artery disease leads to a rising number of incidental findings. Therefore, CT and MRI are frequently performed imaging modalities when echocardiography is deemed insufficient to evaluate a lesion. A brief comprehensive overview about diagnostic radiological imaging and the clinical background of cardiac masses and pseudomasses is reported.
- Published
- 2023
- Full Text
- View/download PDF
45. Extrapulmonary and Drug-Resistant Childhood Tuberculosis: Unveiling the Disease to Adopt the Optimal Treatment Strategy.
- Author
-
Pace D, Corvaglia F, Lisi C, Galli L, and Chiappini E
- Abstract
Paediatric tuberculosis (TB) is a substantial threat among infectious diseases, particularly considering the high risk of extrapulmonary tuberculosis (EPTB), severe forms of the disease, and the spreading of drug-resistant strains. Describing the characteristics of children with EPTB and those with drug-resistant tuberculosis (DR-TB) and analysing the role of second-line drugs could facilitate the management of these cases. This retrospective study was conducted on 271 children diagnosed with active TB disease (44 EPTB cases, 9 DR-TB cases), originating from diverse geographic areas, who were referred to the infectious disease unit at Meyer Children's Hospital, Florence, Italy, from 2006 to 2022. In most patients, the management of therapies was complicated by the impossibility to obtain drug susceptibility testing (DST) results, which improved over the years: 17/154 (11.04%) children had DST results between 2006 and 2013, and 50/117 (42.73%, p < 0.001) between 2014 and 2022. Second-line drugs were not exclusively administered to DR-TB cases, but also to EPTB cases (20/44, 45.45%). Drugs were generally well tolerated; adverse events occurred in 13 children (13/271, 4.80%) and were generally mild and reversable. Therapies were successful in 267 children (98.52%) considered cured, while 4 (1.48%) presented sequelae. Both univariate and multivariate logistic regression analyses were conducted to investigate factors associated with EPTB, DR-TB, and second-line drugs administration. Originating from Asia emerged as a risk factor associated with both EPTB and DR-TB ( p = 0.013 and p = 0.045, respectively). The introduction of GeneXpert tests has significantly improved TB diagnosis and the obtaining of DST results. The administration of second-line therapies should be limited primarily to DR-TB cases, but it is possible that these drugs may also be beneficial in selected EPTB cases.
- Published
- 2023
- Full Text
- View/download PDF
46. Multimodality imaging in cardio-oncology: the added value of CMR and CCTA.
- Author
-
Lisi C, Catapano F, Rondi P, Figliozzi S, Lo Monaco M, Brilli F, Monti L, and Francone M
- Subjects
- Humans, Computed Tomography Angiography, Gadolinium, Magnetic Resonance Imaging methods, Myocardium pathology, Magnetic Resonance Spectroscopy, Predictive Value of Tests, Magnetic Resonance Imaging, Cine, Ventricular Function, Left, Contrast Media, Neoplasms pathology
- Abstract
During the last 30 years, we have assisted to a great implementation in anticancer treatment with a subsequent increase of cancer survivors and decreased mortality. This has led to an ongoing interest about the possible therapy-related side-effects and their management to better guide patients therapy and surveillance in the chronic and long-term setting. As a consequence cardio-oncology was born, involving several different specialties, among which radiology plays a relevant role. Till the end of August 2022, when European Society of Cardiology (ESC) developed the first guidelines on cardio-oncology, no general indications existed to guide diagnosis and treatment of cancer therapy-related cardiovascular toxicity (CTR-CVT). They defined multimodality imaging role in primary and secondary prevention strategies, cancer treatment surveillance and early CTR-CVT identification and management. Cardiac computed tomography angiography (CCTA) has acquired a central role in coronary assessment, as far as coronary artery disease (CAD) exclusion is concerned; but on the side of this well-known application, it also started to be considered in left ventricular function evaluation, interstitial fibrosis quantification and cardiac perfusion studies. Cardiac magnetic resonance (CMR), instead, has been acknowledged as the gold standard alternative to trans-thoracic echocardiography (TTE) poor acoustic window in quantification of heart function and strain modifications, as well as pre- and post-contrast tissue characterization by means of T1-T2 mapping, early Gadolinium enhancement (EGE), late Gadolinium enhancement (LGE) and extracellular volume (ECV) evaluation. Our review is intended to provide a focus on the actual role of CMR and CCTA in the setting of a better understanding of cardiotoxicity and to draw some possible future directions of cardiac imaging in this field, starting from the recently published ESC guidelines.
- Published
- 2023
- Full Text
- View/download PDF
47. Quantification and prospective evaluation of serum NfL and GFAP as blood-derived biomarkers of outcome in acute ischemic stroke patients.
- Author
-
Ferrari F, Rossi D, Ricciardi A, Morasso C, Brambilla L, Albasini S, Vanna R, Fassio C, Begenisic T, Loi M, Bossi D, Zaliani A, Alberici E, Lisi C, Morotti A, Cavallini A, Mazzacane F, Nardone A, Corsi F, and Truffi M
- Subjects
- Humans, Glial Fibrillary Acidic Protein, Intermediate Filaments, Biomarkers, Ischemic Stroke, Stroke
- Abstract
Identification of reliable and accessible biomarkers to characterize ischemic stroke patients' prognosis remains a clinical challenge. Neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) are markers of brain injury, detectable in blood by high-sensitive technologies. Our aim was to measure serum NfL and GFAP after stroke, and to evaluate their correlation with functional outcome and the scores in rehabilitation scales at 3-month follow-up. Stroke patients were prospectively enrolled in a longitudinal observational study within 24 hours from symptom onset (D1) and monitored after 7 (D7), 30 ± 3 (M1) and 90 ± 5 (M3) days. At each time-point serum NfL and GFAP levels were measured by Single Molecule Array and correlated with National Institute of Health Stroke Scale (NIHSS), modified Rankin scale (mRS), Trunk Control Test (TCT), Functional Ambulation Classification (FAC) and Functional Independence Measure (FIM) scores. Serum NfL and GFAP showed different temporal profiles: NfL increased after stroke with a peak value at D7; GFAP showed an earlier peak at D1. NfL and GFAP concentrations correlated with clinical/rehabilitation outcomes both longitudinally and prospectively. Multivariate analysis revealed that NfL-D7 and GFAP-D1 were independent predictors of 3-month NIHSS, TCT, FAC and FIM scores, with NfL being the biomarker with the best predictive performance.
- Published
- 2023
- Full Text
- View/download PDF
48. Nebivolol versus placebo in patients undergoing anthracyclines (CONTROL Trial): rationale and study design.
- Author
-
Cannata F, Stefanini G, Carlo-Stella C, Chiarito M, Figliozzi S, Novelli L, Lisi C, Bombace S, Panico C, Cosco F, Corrado F, Masci G, Mazza R, Ricci F, Monti L, Ferrante G, Santoro A, Francone M, da Costa BR, Jüni P, and Condorelli G
- Subjects
- Humans, Female, Nebivolol adverse effects, Cardiotoxicity prevention & control, Stroke Volume, Prospective Studies, Ventricular Function, Left, Antibiotics, Antineoplastic adverse effects, Anthracyclines adverse effects, Breast Neoplasms drug therapy, Breast Neoplasms complications
- Abstract
Aims: Anthracyclines are the chemotherapeutic agents most frequently associated with cardiotoxicity, while remaining widely used. Different neurohormonal blockers have been tested as a primary prevention strategy to prevent or attenuate the onset of cardiotoxicity, with mixed results. However, prior studies were often limited by a nonblinded design and an assessment of cardiac function based only on echocardiographic imaging. Moreover, on the basis of an improved mechanistic understanding of anthracycline cardiotoxicity mechanisms, new therapeutic strategies have been proposed. Among cardioprotective drugs, nebivolol might be able to prevent the cardiotoxic effects of anthracyclines, through its protective properties towards the myocardium, endothelium, and cardiac mitochondria. This study aims to evaluate the cardioprotective effects of the beta blocker nebivolol in a prospective, placebo-controlled, superiority randomized trial in patients with breast cancer or diffuse large B cell lymphoma (DLBCL) who have a normal cardiac function and will receive anthracyclines as part of their first-line chemotherapy programme., Methods: The CONTROL trial is a randomized, placebo-controlled, double-blinded, superiority trial. Patients with breast cancer or a DLBCL, with a normal cardiac function as assessed by echocardiography, scheduled for treatment with anthracyclines as part of their first-line chemotherapy programme will be randomized 1 : 1 to nebivolol 5 mg once daily (o.d.) or placebo. Patients will be examined with cardiological assessment, echocardiography and cardiac biomarkers at baseline, 1 month, 6 months and 12 months. A cardiac magnetic resonance (CMR) assessment will be performed at baseline and at 12 months. The primary end point is defined as left ventricular ejection fraction reduction assessed by CMR at 12 months of follow-up., Conclusion: The CONTROL trial is designed to provide evidence to assess the cardioprotective role of nebivolol in patients undergoing chemotherapy with anthracyclines., Clinical Trial Registration: The study is registered in the EudraCT registry (number: 2017-004618-24) and in the ClinicalTrials.gov registry (identifier: NCT05728632)., (Copyright © 2023 Italian Federation of Cardiology - I.F.C. All rights reserved.)
- Published
- 2023
- Full Text
- View/download PDF
49. Solving the Riddle of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: The Added Role of Cardiac Magnetic Resonance.
- Author
-
Stankowski K, Figliozzi S, Lisi C, Catapano F, Panico C, Cannata F, Mantovani R, Frontera A, Bragato RM, Stefanini G, Monti L, Condorelli G, and Francone M
- Abstract
Cardiac magnetic resonance (CMR) has been recently implemented in clinical practice to refine the daunting task of establishing the risk of sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). We present an exemplificative case highlighting the practical clinical utility of this imaging modality in a 24-year-old man newly diagnosed with an apical HCM. CMR was essential in unmasking a high risk of SCD, which appeared low-intermediate after traditional risk assessment. A discussion examines the essential role of CMR in guiding the patient's therapy and underlines the added value of CMR, including novel and potential CMR parameters, compared to traditional imaging assessment for SCD risk stratification.
- Published
- 2023
- Full Text
- View/download PDF
50. Lymphadenopathies before and during the Pandemic COVID-19: Increasing Incidence of Metastases from Solid Tumors.
- Author
-
Trasarti S, Troiano R, Biglietto M, Sorella S, Lisi C, Assanto GM, Bizzoni L, Brunetti GA, Giordano C, Rullo E, Saracino M, Saullo P, Vignetti M, Martelli M, and Caronna R
- Abstract
Since December 2019, the world has experienced a pandemic caused by SARS-CoV-2, a virus which spread throughout the world. Anti-COVID19 measures were applied to limit the spread of the infection, affecting normal clinical practice. In 2020, studies on the possible impact of the pandemic considering the screening programs for early diagnosis of cancer were conducted, resulting in a prediction of delayed diagnosis of cancer. We performed a retrospective monocentric study on patients who present with the onset of lymphadenomegalies evaluated at our Hematological Department from February 2019 to October 2021 and undergoing excisional lymph-node biopsy. Three periods were considered: pre-pandemic, first pandemic period and second pandemic period (Group A, B and C). We included 258 patients who underwent a surgical biopsy and received a histological diagnosis. Hematological evaluation of outpatients sent by the general practitioner and surgical biopsies did not decrease among the three groups, despite limitations placed during this pandemic as well as new diagnoses of hematological malignancies. However, the diagnosis of metastatic cancer significantly increased from 2019 (7.8%) to 2021 (22.1%) ( p = 0.042). Our data supports the hypothesis that the pandemic affected the national screening programs of early cancer detection.
- Published
- 2022
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.