35 research outputs found
Role of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia
Background: Germline mutations in BRCA1 or BRCA2 genes have been demonstrated to increase
the risk of developing breast cancer. Conversely, the impact of BRCA mutations on prognosis and
survival of breast cancer patients is still debated. In this study, we investigated the role of such
mutations on breast cancer-specific survival among patients from North Sardinia.
Methods: Among incident cases during the period 1997–2002, a total of 512 breast cancer
patients gave their consent to undergo BRCA mutation screening by DHPLC analysis and automated
DNA sequencing. The Hakulinen, Kaplan-Meier, and Cox regression methods were used for both
relative survival assessment and statistical analysis.
Results: In our series, patients carrying a germline mutation in coding regions and splice
boundaries of BRCA1 and BRCA2 genes were 48/512 (9%). Effect on overall survival was evaluated
taking into consideration BRCA2 carriers, who represented the vast majority (44/48; 92%) of
mutation-positive patients. A lower breast cancer-specific overall survival rate was observed in
BRCA2 mutation carriers after the first two years from diagnosis. However, survival rates were
similar in both groups after five years from diagnosis. No significant difference was found for age of
onset, disease stage, and primary tumour histopathology between the two subsets.
Conclusion: In Sardinian breast cancer population, BRCA2 was the most affected gene and the
effects of BRCA2 germline mutations on patients' survival were demonstrated to vary within the
first two years from diagnosis. After a longer follow-up observation, breast cancer-specific rates of
death were instead similar for BRCA2 mutation carriers and non-carriers
Computer-assisted navigation for intramedullary nailing of intertrochanteric femur fractures: a preliminary result
Aim To demonstrate a reduction of risk factors ray-depending in proximal femur nailing of intertrochanteric femur fractures, comparing standard technique with computer-assisted navigation system.
Methods One hundred patients hospitalised between October 2021 and June 2022 with intertrochanteric femur fractures type 31-A1 and 31-A2 were prospectively enrolled and divided randomly into two groups. A study group was treated with computer-assisted navigation system ATLAS (Masmec Biomed, Modugno, Bari, Italy) (20 patients), while a control group received the standard nailing technique. The same intertrochanteric nail was implanted by a single senior surgeon, Endovis BA 2 (EBA2, Citieffe, Calderara di Reno, Bologna, Italy). The following data were recorded: the setup time of operating room (STOR; minutes); surgical time (ST; minutes); radiation exposure time (ETIR; seconds) and dose area product (DAP; cGy·cm2).
Results Patients underwent femur nailing with computer-assisted navigation system reported more set-up time of operating room (24.87±4.58; p<0.01), less surgical time (26.15±5.80; p<0.01), less time of radiant exposure (4.84±2.07; p<0.01) and lower dose area product (16.26±2.91; p<0.01).
Conclusion The preliminary study demonstrated that computerassisted navigation allowed a better surgical technique standardization, significantly reduced exposure to ionizing radiation, including a reduction in surgical time. The ATLAS system could also play a key role in residents improving learning curve
Ipsilateral Breast Tumor Relapse: Local Recurrence Versus New Primary Tumor and the Effect of Whole-Breast Radiotherapy on the Rate of New Primaries
Prescription appropriateness of anti-diabetes drugs in elderly patients hospitalized in a clinical setting: evidence from the REPOSI Register
Diabetes is an increasing global health burden with the highest prevalence (24.0%) observed in elderly people. Older diabetic adults have a greater risk of hospitalization and several geriatric syndromes than older nondiabetic adults. For these conditions, special care is required in prescribing therapies including anti- diabetes drugs. Aim of this study was to evaluate the appropriateness and the adherence to safety recommendations in the prescriptions of glucose-lowering drugs in hospitalized elderly patients with diabetes. Data for this cross-sectional study were obtained from the REgistro POliterapie-Società Italiana Medicina Interna (REPOSI) that collected clinical information on patients aged ≥ 65 years acutely admitted to Italian internal medicine and geriatric non-intensive care units (ICU) from 2010 up to 2019. Prescription appropriateness was assessed according to the 2019 AGS Beers Criteria and anti-diabetes drug data sheets.Among 5349 patients, 1624 (30.3%) had diagnosis of type 2 diabetes. At admission, 37.7% of diabetic patients received treatment with metformin, 37.3% insulin therapy, 16.4% sulfonylureas, and 11.4% glinides. Surprisingly, only 3.1% of diabetic patients were treated with new classes of anti- diabetes drugs. According to prescription criteria, at admission 15.4% of patients treated with metformin and 2.6% with sulfonylureas received inappropriately these treatments. At discharge, the inappropriateness of metformin therapy decreased (10.2%, P < 0.0001). According to Beers criteria, the inappropriate prescriptions of sulfonylureas raised to 29% both at admission and at discharge. This study shows a poor adherence to current guidelines on diabetes management in hospitalized elderly people with a high prevalence of inappropriate use of sulfonylureas according to the Beers criteria
Risk factors associated with adverse fetal outcomes in pregnancies affected by Coronavirus disease 2019 (COVID-19): a secondary analysis of the WAPM study on COVID-19.
Objectives To evaluate the strength of association between maternal and pregnancy characteristics and the risk of adverse perinatal outcomes in pregnancies with laboratory confirmed COVID-19. Methods Secondary analysis of a multinational, cohort study on all consecutive pregnant women with laboratory-confirmed COVID-19 from February 1, 2020 to April 30, 2020 from 73 centers from 22 different countries. A confirmed case of COVID-19 was defined as a positive result on real-time reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay of nasal and pharyngeal swab specimens. The primary outcome was a composite adverse fetal outcome, defined as the presence of either abortion (pregnancy loss before 22 weeks of gestations), stillbirth (intrauterine fetal death after 22 weeks of gestation), neonatal death (death of a live-born infant within the first 28 days of life), and perinatal death (either stillbirth or neonatal death). Logistic regression analysis was performed to evaluate parameters independently associated with the primary outcome. Logistic regression was reported as odds ratio (OR) with 95% confidence interval (CI). Results Mean gestational age at diagnosis was 30.6+/-9.5 weeks, with 8.0% of women being diagnosed in the first, 22.2% in the second and 69.8% in the third trimester of pregnancy. There were six miscarriage (2.3%), six intrauterine device (IUD) (2.3) and 5 (2.0%) neonatal deaths, with an overall rate of perinatal death of 4.2% (11/265), thus resulting into 17 cases experiencing and 226 not experiencing composite adverse fetal outcome. Neither stillbirths nor neonatal deaths had congenital anomalies found at antenatal or postnatal evaluation. Furthermore, none of the cases experiencing IUD had signs of impending demise at arterial or venous Doppler. Neonatal deaths were all considered as prematurity-related adverse events. Of the 250 live-born neonates, one (0.4%) was found positive at RT-PCR pharyngeal swabs performed after delivery. The mother was tested positive during the third trimester of pregnancy. The newborn was asymptomatic and had negative RT-PCR test after 14 days of life. At logistic regression analysis, gestational age at diagnosis (OR: 0.85, 95% CI 0.8-0.9 per week increase; pPeer reviewe
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to
genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility
and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component.
Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci
(eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene),
including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform
genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer
SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the
diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types
Maternal and perinatal outcomes of pregnant women with SARS-CoV-2 infection.
OBJECTIVES: To evaluate the maternal and perinatal outcomes of pregnancies affected by SARS-CoV-2 infection. METHODS: This was a multinational retrospective cohort study including women with a singleton pregnancy and laboratory-confirmed SARS-CoV-2 infection, conducted in 72 centers in 22 different countries in Europe, the USA, South America, Asia and Australia, between 1 February 2020 and 30 April 2020. Confirmed SARS-CoV-2 infection was defined as a positive result on real-time reverse-transcription polymerase chain reaction (RT-PCR) assay of nasopharyngeal swab specimens. The primary outcome was a composite measure of maternal mortality and morbidity, including admission to the intensive care unit (ICU), use of mechanical ventilation and death. RESULTS: In total, 388 women with a singleton pregnancy tested positive for SARS-CoV-2 on RT-PCR of a nasopharyngeal swab and were included in the study. Composite adverse maternal outcome was observed in 47/388 (12.1%) women; 43 (11.1%) women were admitted to the ICU, 36 (9.3%) required mechanical ventilation and three (0.8%) died. Of the 388 women included in the study, 122 (31.4%) were still pregnant at the time of data analysis. Among the other 266 women, six (19.4% of the 31 women with first-trimester infection) had miscarriage, three (1.1%) had termination of pregnancy, six (2.3%) had stillbirth and 251 (94.4%) delivered a liveborn infant. The rate of preterm birth before 37 weeks' gestation was 26.3% (70/266). Of the 251 liveborn infants, 69/251 (27.5%) were admitted to the neonatal ICU, and there were five (2.0%) neonatal deaths. The overall rate of perinatal death was 4.1% (11/266). Only one (1/251, 0.4%) infant, born to a mother who tested positive during the third trimester, was found to be positive for SARS-CoV-2 on RT-PCR. CONCLUSIONS: SARS-CoV-2 infection in pregnant women is associated with a 0.8% rate of maternal mortality, but an 11.1% rate of admission to the ICU. The risk of vertical transmission seems to be negligible. © 2020 International Society of Ultrasound in Obstetrics and Gynecology
Cumulative incidence estimation in the presence of competing risks
When competing risks are present, the appropriate estimate of the failure probabilities is the cumulative incidence. stcompet creates new variables containing the estimate of this function, its standard error, and ln(−ln) transformed confidence bounds. Two examples are presented to illustrate the use of the new command and some key features of the cumulative incidence
Cumulative incidence estimation in the presence of competing risks
When competing risks are present, the appropriate estimate of the failure probabilities is the cumulative incidence. stcompet creates new variables containing the estimate of this function, its standard error, and ln(-ln) transformed confidence bounds. Two examples are presented to illustrate the use of the new command and some key features of the cumulative incidence. Copyright 2004 by StataCorp LP.stcompet, survival analysis, competing risks, cumulative incidence