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- Campanella, A., et al.
(författare)
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Additional booster doses in patients with chronic lymphocytic leukemia induce humoral and cellular immune responses to SARS-CoV-2 similar to natural infection regardless ongoing treatments : A study by ERIC, the European Research Initiative on CLL
- 2024
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Ingår i: American Journal of Hematology. - : John Wiley & Sons. - 0361-8609 .- 1096-8652. ; 99:4, s. 745-750
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Profound immune dysregulation and impaired response to the SARS-CoV-2 vaccine put patients with chronic lymphocytic leukemia (CLL) at risk of severe COVID-19. We compared humoral memory and T-cell responses after booster dose vaccination or breakthrough infection. (Green) Quantitative determination of anti-Spike specific antibodies. Booster doses increased seroconversion rate and antibody titers in all patient categories, ultimately generating humoral responses similar to those observed in the postinfection cohort. In detail, humoral response with overscale median antibody titers arose in >80% of patients in watch and wait, off-therapy in remission, or under treatment with venetoclax single-agent. Anti-CD20 antibodies and active treatment with BTK inhibitors (BTKi) represent limiting factors of humoral response, still memory mounted in ~40% of cases following booster doses or infection. (Blue) Evaluation of SARS-CoV-2-specific T-cell responses. Number of T-cell functional activation markers documented in each patient. The vast majority of patients, including those seronegative, developed T-cell responses, qualitatively similar between treatment groups or between vaccination alone and infection cases. These data highlight the efficacy of booster doses in eliciting T-cell immunity independently of treatment status and support the use of additional vaccination boosters to stimulate humoral immunity in patients on active CLL-directed treatments.
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| 4. |
- Leoncini, Emanuele, et al.
(författare)
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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems : Searching for population variations.
- 2008
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Ingår i: Birth defects research. Clinical and molecular teratology. - : Wiley. - 1542-0752 .- 1542-0760. ; 82:8, s. 585-591
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median rnaxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small Studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This Study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, Under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied Populations that would be useful to generate etiological hypotheses.
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| 5. |
- Leoncini, Emanuele, et al.
(författare)
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How Valid Are the Rates of Down Syndrome Internationally? : Findings from the International Clearinghouse for Birth Defects Surveillance and Research
- 2010
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 152A:7, s. 1670-1680
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Tidskriftsartikel (refereegranskat)abstract
- Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment. The proposed method compares the observed number of cases with DS (livebirths plus elective pregnancy terminations, adjusted for spontaneous fetal losses that would have occurred if the pregnancy had been allowed to continue) in each single year of maternal age, with the expected number of cases based on the best-published data on rates by year of maternal age. To test this method we used data from birth years 2000 to 2005 from 32 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research. We computed the adjusted observed versus expected ratio (aOE) of DS birth prevalence among women 25-44 years old. The aOE ratio was close to unity in 13 programs (the 95% confidence interval included 1), above 1 in 2 programs and below 1 in 18 programs (P < 0.05). These findings suggest that DS rates internationally can be evaluated simply and systematically, and underscores how adjusting for spontaneous fetal loss is crucial and feasible. The aOE ratio can help better interpret and compare the reported rates, measure the degree of under- or over-registration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs.
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| 7. |
- Mantini, Cesare, et al.
(författare)
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Prevalence and Clinical Relevance of Extracardiac Findings in Cardiovascular Magnetic Resonance Imaging
- 2019
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Ingår i: Journal of Thoracic Imaging. - 0883-5993. ; 34:1, s. 48-55
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To assess the prevalence of extracardiac findings (ECF) during cardiovascular magnetic resonance (CMR) examinations and their downstream effect on clinical management. Materials and Methods: We retrospectively identified 500 consecutive patients. Trans-axial balanced steady-state free precession nongated images acquired from the upper thorax to the upper abdomen were evaluated independently by 2 radiologists. ECF were classified as nonsignificant (benign, with no need for further investigation), significant (mandatory to be reported/monitored), and major (clinically remarkable pathology, mandatory to be reported/investigated/treated). Fifteen-month clinical follow-up information was collected through hospital records. Results: Of 500 patients, 108 (21.6%) showed a total of 153 ECF: 59 (11.8% of the entire study population; 38.5% of all ECF) nonsignificant, 76 (15.2%; 49.7%) significant, and 18 (3.6%; 11.8%) major ECF. The most frequent ECF were pleural effusion, hepatic cyst, renal cyst, and ascending aorta dilatation. Of 94 significant and major ECF, 46 were previously unknown and more common in older patients. Newly diagnosed major ECF (n=11, 2.2% of the entire study population, and 7.2% of all ECF)-including 5 tumors (1% of study population)-were confirmed by downstream evaluations and required specific treatment. Patients with major ECF were significantly older than patients without with major ECF. Newly diagnosed clinically significant and major ECF prompted downstream diagnostic tests in 44% and 100% of cases, respectively. Conclusions: The detection of significant and major ECF is common during CMR reporting. The knowledge and the correct identification of most frequent ECF enable earlier diagnoses and faster treatment initiation of unknown extracardiac pathologies in patients referred to CMR imaging.
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| 8. |
- Mastroiacovo, Pierpaolo, et al.
(författare)
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Gastroschisis and associated defects : an international study
- 2007
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:7, s. 660-671
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Tidskriftsartikel (refereegranskat)abstract
- Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio-vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review.
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