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  • 1
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    Online Resource
    Colorectal Cancer Stage at Diagnosis Before vs During the COVID-19 Pandemic in Italy
    American Medical Association (AMA) ; 2022
    In:  JAMA Network Open Vol. 5, No. 11 ( 2022-11-21), p. e2243119-
    Details
    In: JAMA Network Open, American Medical Association (AMA), Vol. 5, No. 11 ( 2022-11-21), p. e2243119-
    Abstract: Delays in screening programs and the reluctance of patients to seek medical attention because of the outbreak of SARS-CoV-2 could be associated with the risk of more advanced colorectal cancers at diagnosis. Objective To evaluate whether the SARS-CoV-2 pandemic was associated with more advanced oncologic stage and change in clinical presentation for patients with colorectal cancer. Design, Setting, and Participants This retrospective, multicenter cohort study included all 17 938 adult patients who underwent surgery for colorectal cancer from March 1, 2020, to December 31, 2021 (pandemic period), and from January 1, 2018, to February 29, 2020 (prepandemic period), in 81 participating centers in Italy, including tertiary centers and community hospitals. Follow-up was 30 days from surgery. Exposures Any type of surgical procedure for colorectal cancer, including explorative surgery, palliative procedures, and atypical or segmental resections. Main Outcomes and Measures The primary outcome was advanced stage of colorectal cancer at diagnosis. Secondary outcomes were distant metastasis, T4 stage, aggressive biology (defined as cancer with at least 1 of the following characteristics: signet ring cells, mucinous tumor, budding, lymphovascular invasion, perineural invasion, and lymphangitis), stenotic lesion, emergency surgery, and palliative surgery. The independent association between the pandemic period and the outcomes was assessed using multivariate random-effects logistic regression, with hospital as the cluster variable. Results A total of 17 938 patients (10 007 men [55.8%]; mean [SD] age, 70.6 [12.2] years) underwent surgery for colorectal cancer: 7796 (43.5%) during the pandemic period and 10 142 (56.5%) during the prepandemic period. Logistic regression indicated that the pandemic period was significantly associated with an increased rate of advanced-stage colorectal cancer (odds ratio [OR] , 1.07; 95% CI, 1.01-1.13; P  = .03), aggressive biology (OR, 1.32; 95% CI, 1.15-1.53; P   & amp;lt; .001), and stenotic lesions (OR, 1.15; 95% CI, 1.01-1.31; P  = .03). Conclusions and Relevance This cohort study suggests a significant association between the SARS-CoV-2 pandemic and the risk of a more advanced oncologic stage at diagnosis among patients undergoing surgery for colorectal cancer and might indicate a potential reduction of survival for these patients.
    Type of Medium: Online Resource
    ISSN: 2574-3805
    URL: Article
    DOI: 10.1001/jamanetworkopen.2022.43119
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2022
    detail.hit.zdb_id: 2931249-8
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  • 2
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    Effect of centre volume on pathological outcomes and postoperative complications after surgery for colorectal cancer: results of a multicentre national study
    Oxford University Press (OUP) ; 2023
    In:  British Journal of Surgery ( 2023-11-14)
    Details
    In: British Journal of Surgery, Oxford University Press (OUP), ( 2023-11-14)
    Abstract: The association between volume, complications and pathological outcomes is still under debate regarding colorectal cancer surgery. The aim of the study was to assess the association between centre volume and severe complications, mortality, less-than-radical oncologic surgery, and indications for neoadjuvant therapy. Methods Retrospective analysis of 16,883 colorectal cancer cases from 80 centres (2018–2021). Outcomes: 30-day mortality; Clavien-Dindo grade & gt;2 complications; removal of ≥ 12 lymph nodes; non-radical resection; neoadjuvant therapy. Quartiles of hospital volumes were classified as LOW, MEDIUM, HIGH, and VERY HIGH. Independent predictors, both overall and for rectal cancer, were evaluated using logistic regression including age, gender, AJCC stage and cancer site. Results LOW-volume centres reported a higher rate of severe postoperative complications (OR 1.50, 95% c.i. 1.15–1.096, P = 0.003). The rate of ≥ 12 lymph nodes removed in LOW-volume (OR 0.68, 95% c.i. 0.56–0.85, P & lt; 0.001) and MEDIUM-volume (OR 0.72, 95% c.i. 0.62–0.83, P & lt; 0.001) centres was lower than in VERY HIGH-volume centres. Of the 4676 rectal cancer patients, the rate of ≥ 12 lymph nodes removed was lower in LOW-volume than in VERY HIGH-volume centres (OR 0.57, 95% c.i. 0.41–0.80, P = 0.001). A lower rate of neoadjuvant chemoradiation was associated with HIGH (OR 0.66, 95% c.i. 0.56–0.77, P & lt; 0.001), MEDIUM (OR 0.75, 95% c.i. 0.60–0.92, P = 0.006), and LOW (OR 0.70, 95% c.i. 0.52–0.94, P = 0.019) volume centres (vs. VERY HIGH). Conclusion Colorectal cancer surgery in low-volume centres is at higher risk of suboptimal management, poor postoperative outcomes, and less-than-adequate oncologic resections. Centralisation of rectal cancer cases should be taken into consideration to optimise the outcomes.
    Type of Medium: Online Resource
    ISSN: 0007-1323 , 1365-2168
    URL: Article
    DOI: 10.1093/bjs/znad373
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 2006309-X
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  • 3
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    Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
    Ovid Technologies (Wolters Kluwer Health) ; 2023
    In:  Journal of the American Heart Association Vol. 12, No. 10 ( 2023-05-16)
    Details
    In: Journal of the American Heart Association, Ovid Technologies (Wolters Kluwer Health), Vol. 12, No. 10 ( 2023-05-16)
    Abstract: Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M−) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk‐increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M− and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M− also had lower mean levels of pretreatment low‐density lipoprotein cholesterol than individuals with FH/M+ ( t test for difference in means between FH/M− and FH/M+ groups 〈 0.0001); however, subjects with FH/M− and lp(a) score ≥1 had higher mean (SD) pretreatment low‐density lipoprotein cholesterol levels (223.47 [50.40] mg/dL) compared with subjects with FH/M− and lp(a) score=0 (219.38 [54.54] mg/dL for), although not statistically significant. The adjustment of low‐density lipoprotein cholesterol levels based on lp(a) concentration reduced from 68% to 42% the proportion of subjects with low‐density lipoprotein cholesterol level ≥190 mg/dL (or from 68% to 50%, considering a more conservative formula). Conclusions Our study supports the importance of measuring lp(a) to perform the diagnosis of FH appropriately and to exclude that the observed phenotype is driven by elevated levels of lp(a) before performing the genetic test for FH.
    Type of Medium: Online Resource
    ISSN: 2047-9980
    URL: Article
    DOI: 10.1161/JAHA.122.029223
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2023
    detail.hit.zdb_id: 2653953-6
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  • 4
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    A new national survey of centers for cognitive disorders and dementias in Italy
    Springer Science and Business Media LLC ; 2023
    In:  Neurological Sciences
    Details
    In: Neurological Sciences, Springer Science and Business Media LLC
    Abstract: A new national survey has been carried out by the Italian Centers for Cognitive Disorders and Dementias (CCDDs). The aim of this new national survey is to provide a comprehensive description of the characteristics, organizational aspects of the CCDDs, and experiences during the COVID-19 pandemic. Methods A list of all national CCDDs was requested from the delegates of each Italian region. The online questionnaire is divided in two main sections: a profile section, containing information on location and accessibility, and a data collection form covering organization, services, treatments, activities, and any service interruptions caused by the COVID-19 outbreak. Results In total, 511 out of 534 (96%) facilities completed the profile section, while 450 out of 534 (84%) CCDDs also completed the data collection form. Almost half of the CCDDs (55.1%) operated for 3 or fewer days a week. About one-third of the facilities had at least two professional figures among neurologists, geriatricians and psychiatrists. In 2020, only a third of facilities were open all the time, but in 2021, two-thirds of the facilities were open. Conclusion This paper provides an update on the current status of CCDDs in Italy, which still shows considerable heterogeneity. The survey revealed a modest improvement in the functioning of CCDDs, although substantial efforts are still required to ensure the diagnosis and care of patients with dementia.
    Type of Medium: Online Resource
    ISSN: 1590-1874 , 1590-3478
    URL: Article
    DOI: 10.1007/s10072-023-06958-8
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1481772-X
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  • 5
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    Female Sex and Oligoarthritis Category Are Not Risk Factors for Uveitis in Italian Children with Juvenile Idiopathic Arthritis
    The Journal of Rheumatology ; 2014
    In:  The Journal of Rheumatology Vol. 41, No. 7 ( 2014-07), p. 1416-1425
    Details
    In: The Journal of Rheumatology, The Journal of Rheumatology, Vol. 41, No. 7 ( 2014-07), p. 1416-1425
    Abstract: To investigate the risk factors for chronic anterior uveitis in patients with juvenile idiopathic arthritis (JIA). Methods. The clinical charts of patients followed between January 1987 and December 2011 were reviewed to establish whether they had uveitis. Inclusion criteria were a diagnosis of JIA and a disease category of persistent oligoarthritis, extended oligoarthritis, rheumatoid factor-negative polyarthritis, psoriatic arthritis, or undifferentiated arthritis. Risk factors included sex, age at arthritis onset, disease category, and antinuclear antibody (ANA) status. The association of risk factors with occurrence of uveitis was evaluated by survival analysis, with first episode of uveitis as the event of interest, and Cox regression analysis. Results. Of a total of 1189 patients, 278 (23.4%) had uveitis a median of 1.1 years after onset of arthritis. There was no difference in the cumulative probability of developing uveitis between males and females and between patients belonging to different JIA categories, whereas uveitis was strongly associated with age at arthritis onset ≤ 3.5 years and positive ANA. Patients possessing the latter 2 factors in combination had a greater probability of having uveitis than patients who had either of them alone. Conclusion. In our patients, the risk of uveitis was related to younger age at onset of arthritis and presence of ANA, but not to female sex and disease category. This finding suggests that the patients who require the most intensive ophthalmologic screening are those who have early-onset JIA and are ANA-positive, regardless of their sex or disease subtype.
    Type of Medium: Online Resource
    ISSN: 0315-162X , 1499-2752
    URL: Article
    DOI: 10.3899/jrheum.131494
    RVK:
    XA 10000
    Language: English
    Publisher: The Journal of Rheumatology
    Publication Date: 2014
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  • 6
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    Evidence for Updating the Core Domain Set of Outcome Measures for Juvenile Idiopathic Arthritis: Report from a Special Interest Group at OMERACT 2016
    The Journal of Rheumatology ; 2017
    In:  The Journal of Rheumatology Vol. 44, No. 12 ( 2017-12), p. 1884-1888
    Details
    In: The Journal of Rheumatology, The Journal of Rheumatology, Vol. 44, No. 12 ( 2017-12), p. 1884-1888
    Abstract: The current Juvenile Idiopathic Arthritis (JIA) Core Set was developed in 1997 to identify the outcome measures to be used in JIA clinical trials using statistical and consensus-based techniques, but without patient involvement. The importance of patient/parent input into the research process has increasingly been recognized over the years. An Outcome Measures in Rheumatology (OMERACT) JIA Core Set Working Group was formed to determine whether the outcome domains of the current core set are relevant to those involved or whether the core set domains should be revised. Methods. Twenty-four people from the United States, Canada, Australia, and Europe, including patient partners, formed the working group. Guided by the OMERACT Filter 2.0 process, we performed (1) a systematic literature review of outcome domains, (2) a Web-based survey (142 patients, 343 parents), (3) an idea-generation study (120 parents), (4) 4 online discussion boards (24 patients, 20 parents), and (5) a Special Interest Group (SIG) activity at the OMERACT 13 (2016) meeting. Results. A MEDLINE search of outcome domains used in studies of JIA yielded 5956 citations, of which 729 citations underwent full-text review, and identified additional domains to those included in the current JIA Core Set. Qualitative studies on the effect of JIA identified multiple additional domains, including pain and participation. Twenty-one participants in the SIG achieved consensus on the need to revise the entire JIA Core Set. Conclusion. The results of qualitative studies and literature review support the need to expand the JIA Core Set, considering, among other things, additional patient/parent-centered outcomes, clinical data, and imaging data.
    Type of Medium: Online Resource
    ISSN: 0315-162X , 1499-2752
    URL: Article
    DOI: 10.3899/jrheum.161389
    RVK:
    XA 10000
    Language: English
    Publisher: The Journal of Rheumatology
    Publication Date: 2017
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  • 7
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    An Unusual Presentation of Crohn’s Disease Diagnosed Following Accidental Ingestion of Fruit Pits: Report of Two Cases and Review of the Literature
    MDPI AG ; 2021
    In:  Life Vol. 11, No. 12 ( 2021-12-16), p. 1415-
    Details
    In: Life, MDPI AG, Vol. 11, No. 12 ( 2021-12-16), p. 1415-
    Abstract: The clinical course of Crohn’s disease (CD) is often complicated by intestinal strictures, which can be fibrotic, inflammatory, or mixed, therefore leading to stenosis and eventually symptomatic obstruction. We report two cases of subclinical CD diagnosed after fruit pit ingestion, causing bowel obstruction; additionally, we conducted a narrative review of the scientific literature on cases of intestinal obstruction secondary to impacted bezoars due to fruit pits. Symptoms of gastrointestinal bezoars in CD patients are not diagnostic; and the diagnosis should be based on a combined assessment of history, clinical presentation, imaging examination and endoscopy findings. This report corroborates the concept that CD patients are at a greater risk of bowel obstruction with bezoars generally and shows that accidental ingestion of fruit pits may lead to an unusual presentation of the disease. Therapeutic options in this group of patients differ from the usual approaches implemented in other patients with strictures secondary to CD.
    Type of Medium: Online Resource
    ISSN: 2075-1729
    URL: Article
    DOI: 10.3390/life11121415
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2662250-6
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  • 8
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    A30: Assessment of Construct and Discriminative Validity of the 3‐Variable JADAS in Relation of Parent‐Reported Outcomes
    Wiley ; 2014
    In:  Arthritis & Rheumatology Vol. 66, No. S3 ( 2014-03)
    Details
    In: Arthritis & Rheumatology, Wiley, Vol. 66, No. S3 ( 2014-03)
    Abstract: An established approach to the measurement of disease activity in juvenile idiopathic arthritis (JIA) is based on the Juvenile Arthritis Disease Activity Score (JADAS). The feasibility of the JADAS for use in standard clinical practice might be enhanced by implementing of a 3‐variable version, which does not include the acute phase reactant. Recently, the 3‐variable JADAS was found to correlate closely with the original tool. However, the validity of this simplified version of the JADAS in the clinical setting is still insufficiently documented. Aim of the study was to further validate the 3‐variable version of the JADAS, hence named clinical JADAS (cJADAS), by assessing its relationship with parent‐reported outcomes (excluding the parent's rating of overall well‐being, which is included in the JADAS). Methods: The study was conducted in a cohort of 175 newly‐diagnosed consecutive JIA patients, first seen between 2007–2011 and then followed for 2 years. Clinical assessments were made at baseline and then at 6, 12, 18 and 24 months. At each visit, all parent reported outcomes included in the Juvenile Arthritis Multidimensional Assessment Report (JAMAR) were assessed by a parent of each patient. Construct validity of the cJADAS was computed by calculating its Spearman's correlation with pain visual analog scale (VAS) and disease activity VAS. Discriminative validity was evaluated, by means of the non‐parametric analysis of variance (Kruskal‐Wallis test) or Mann‐Whitney U test, by examining the ability of cJADAS to discriminate between: 1) different categories of disease state (remission, persistent activity or flare), rated subjectively by the parents; 2) different categories of disease course (improved, stable or worsened), rated subjectively by the parents; 3) visit in which parents declared themselves as satisfied or not satisfied with the outcome of the illness; 4) different duration of morning stiffness. Results: The cJADAS was strongly correlated with pain VAS (r=0.71) and disease activity VAS (r=0.77). The cJADAS was significantly lower in patients rated as being in remission than in patients rated as being in persistent activity or flare (p 〈 0.0001), in patients rated as improved or stable than in patients rated as worsened (p 〈 0001), and in patients whose parents were satisfied with illness outcome than in those who were not (p 〈 0.0001). The cJADAS was proportionally greater in parallel with the progressive increase in morning stiffness (p 〈 0001). Conclusion: The cJADAS was strongly associated with all parent‐reported outcomes, which indicates that it reflects well the parent perception of the child's disease status and course.
    Type of Medium: Online Resource
    ISSN: 2326-5191 , 2326-5205
    URL: Issue
    URL: Article
    DOI: 10.1002/art.v66.S3
    DOI: 10.1002/art.38446
    RVK:
    XA 10000
    RVK:
    XA 30325
    Language: English
    Publisher: Wiley
    Publication Date: 2014
    detail.hit.zdb_id: 2754614-7
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  • 9
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    Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
    Oxford University Press (OUP) ; 2024
    In:  European Journal of Preventive Cardiology ( 2024-02-20)
    Details
    In: European Journal of Preventive Cardiology, Oxford University Press (OUP), ( 2024-02-20)
    Abstract: The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management of homozygous familial hypercholesterolaemia (HoFH). The impact of these advances was evaluated in a cohort of 139 HoFH patients followed in a real-world clinical setting. Methods and results The clinical characteristics of 139 HoFH patients, along with information about LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years, were retrospectively retrieved from the records of patients enrolled in the LIPid transport disorders Italian GEnetic Network-Familial Hypercholesterolaemia (LIPIGEN-FH) Registry. The annual rates of major atherosclerotic cardiovascular events (MACE-plus) during follow-up were compared before and after baseline. Additionally, the lifelong survival free from MACE-plus was compared with that of the historical LIPIGEN HoFH cohort. At baseline, LDL-C level was 332 ± 138 mg/dL. During follow-up, the potency of LLTs was enhanced and, at the last visit, 15.8% of patients were taking quadruple therapy. Consistently, LDL-C decreased to an average value of 124 mg/dL corresponding to a 58.3% reduction (Pt & lt; 0.001), with the lowest value (∼90 mg/dL) reached in patients receiving proprotein convertase subtilisin/kexin type 9 inhibitors and lomitapide and/or evinacumab as add-on therapies. The average annual MACE-plus rate in the 5-year follow-up was significantly lower than that observed during the 5 years before baseline visit (21.7 vs. 56.5 per 1000 patients/year; P = 0.0016). Conclusion Our findings indicate that the combination of novel and conventional LLTs significantly improved LDL-C control with a signal of better cardiovascular prognosis in HoFH patients. Overall, these results advocate the use of intensive, multidrug LLTs to effectively manage HoFH.
    Type of Medium: Online Resource
    ISSN: 2047-4873 , 2047-4881
    URL: Article
    DOI: 10.1093/eurjpc/zwae036
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2024
    detail.hit.zdb_id: 2646239-4
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  • 10
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    Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G〉C mutation in ABCA1 gene
    Elsevier BV ; 2003
    In:  Journal of Lipid Research Vol. 44, No. 2 ( 2003-02), p. 254-264
    Details
    In: Journal of Lipid Research, Elsevier BV, Vol. 44, No. 2 ( 2003-02), p. 254-264
    Type of Medium: Online Resource
    ISSN: 0022-2275
    URL: Article
    DOI: 10.1194/jlr.M200248-JLR200
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2003
    detail.hit.zdb_id: 1466675-3
    SSG: 12
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