Objectives The aim of this study was to analyze the long-term follow-up of dilated cardiolaminopathies. Background Lamin A/C ( LMNA ) gene mutations cause a variety of phenotypes. In the cardiology ...setting, patients diagnosed with idiopathic dilated cardiomyopathy (DCM) plus atrioventricular block (AVB) constitute the majority of reported cases. Methods Longitudinal retrospective observational studies were conducted with 27 consecutive families in which LMNA gene defects were identified in the probands, all sharing the DCM phenotype. Results Of the 164 family members, 94 had LMNA gene mutations. Sixty of 94 (64%) were phenotypically affected whereas 34 were only genotypically affected, including 5 with pre-clinical signs. Of the 60 patients, 40 had DCM with AVB, 12 had DCM with ventricular tachycardia/fibrillation, 6 had DCM with AVB and Emery-Dreifuss muscular dystrophy type 2 (EDMD2), and 2 had AVB plus EDMD2. During a median of 57 months (interquartile range 36 to 107 months), we observed 49 events in 43 DCM patients (6 had a later event, excluded from the analysis). The events were related to heart failure (15 heart transplants, 1 death from end-stage heart failure) and ventricular arrhythmias (15 sudden cardiac deaths and 12 appropriate implantable cardioverter-defibrillator interventions). By multivariable analysis, New York Heart Association functional class III to IV and highly dynamic competitive sports for ≥10 years were independent predictors of total events. By a bivariable Cox model, splice site mutations and competitive sport predicted sudden cardiac death. Conclusions Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation.
Summary Background An established multivariate serum protein test can be used to classify patients according to whether they are likely to have a good or poor outcome after treatment with EGFR ...tyrosine-kinase inhibitors. We assessed the predictive power of this test in the comparison of erlotinib and chemotherapy in patients with non-small-cell lung cancer. Methods From Feb 26, 2008, to April 11, 2012, patients (aged ≥18 years) with histologically or cytologically confirmed, second-line, stage IIIB or IV non-small-cell lung cancer were enrolled in 14 centres in Italy. Patients were stratified according to a minimisation algorithm by Eastern Cooperative Oncology Group performance status, smoking history, centre, and masked pretreatment serum protein test classification, and randomly assigned centrally in a 1:1 ratio to receive erlotinib (150 mg/day, orally) or chemotherapy (pemetrexed 500 mg/m2 , intravenously, every 21 days, or docetaxel 75 mg/m2 , intravenously, every 21 days). The proteomic test classification was masked for patients and investigators who gave treatments, and treatment allocation was masked for investigators who generated the proteomic classification. The primary endpoint was overall survival and the primary hypothesis was the existence of a significant interaction between the serum protein test classification and treatment. Analyses were done on the per-protocol population. This trial is registered with ClinicalTrials.gov , number NCT00989690. Findings 142 patients were randomly assigned to chemotherapy and 143 to erlotinib, and 129 (91%) and 134 (94%), respectively, were included in the per-protocol analysis. 88 (68%) patients in the chemotherapy group and 96 (72%) in the erlotinib group had a proteomic test classification of good. Median overall survival was 9·0 months (95% CI 6·8–10·9) in the chemotherapy group and 7·7 months (5·9–10·4) in the erlotinib group. We noted a significant interaction between treatment and proteomic classification (pinteraction =0·017 when adjusted for stratification factors; pinteraction =0·031 when unadjusted for stratification factors). Patients with a proteomic test classification of poor had worse survival on erlotinib than on chemotherapy (hazard ratio 1·72 95% CI 1·08–2·74, p=0·022). There was no significant difference in overall survival between treatments for patients with a proteomic test classification of good (adjusted HR 1·06 0·77–1·46, p=0·714). In the group of patients who received chemotherapy, the most common grade 3 or 4 toxic effect was neutropenia (19 15% vs one <1% in the erlotinib group), whereas skin toxicity (one <1% vs 22 16%) was the most frequent in the erlotinib group. Interpretation Our findings indicate that serum protein test status is predictive of differential benefit in overall survival for erlotinib versus chemotherapy in the second-line setting. Patients classified as likely to have a poor outcome have better outcomes on chemotherapy than on erlotinib. Funding Italian Ministry of Health, Italian Association of Cancer Research, and Biodesix.
Objective The objective of the study was to prospectively evaluate the accuracy of laparoscopy performed in satellite centers (SCs) to describe intraabdominal diffusion of advanced ovarian cancer ...(AOC). Study Design Patients with a clinical/radiological suspicion of AOC were included in the protocol. SCs were selected among those surgeons, spending a short intensive training period at the coordinator center (CC) to learn the application of staging laparoscopy (S-LPS) in AOC. All women underwent S-LPS at the SCs, and the surgical procedure was recorded and blindly reviewed at the CC. Calculating specificity, positive and negative predictive values, and the accuracy for each parameter with respect to the CC assessed the diagnostic performance of S-LPS. The Cohen's kappa was used to test the interobserver agreement of each parameter. Results One hundred sixty-eight cases were considered eligible for the study. A per-protocol analysis was performed on 120 cases. The worst laparoscopic assessable feature was mesenteric retraction, whereas the remaining variables ranged from 99.2% (peritoneal carcinomatosis) to 90% (bowel infiltration). All but 1 SC (SC number 4) reached an accuracy rate of 80% or greater for both single parameters and overall score. The Cohen's kappa and the P value for overall predicitive index value were 0.685 and .01, respectively, but improved to 0.773 and .388 after removing the SC number 4 from the analysis. Conclusion S-LPS allows an accurate and reliable assessment of intraperitoneal diffusion of disease in AOC patients in trained gynecological oncology centers.
Background The use of extracorporeal membrane oxygenation (ECMO) as a bridge to lung transplant (LTX) is still being debated. Methods We performed a retrospective two-center analysis of the ...relationship between ECMO bridging duration and survival in 25 patients. Further survival analysis was obtained by dividing the patients according to waiting time on ECMO: up to 14 days (Early group) or longer (Late group). We also analyzed the impact of the ventilation strategy during ECMO bridging (ie, spontaneous breathing and noninvasive ventilation NIV or intubation and invasive mechanical ventilation IMV). Results Seventeen of 25 patients underwent a transplant (with a 76% 1-year survival), whereas eight patients died during bridging. In the 17 patients who underwent a transplant, mortality was positively related to waiting days until LTX (hazard ratio HR, 1.12 per day; 95% CI, 1.02-1.23; P = .02), and the Early group showed better Kaplan-Meier curves ( P = .02), higher 1-year survival rates (100% vs 50%, P = .03), and lower morbidity (days on IMV and length of stay in ICU and hospital). During the bridge to transplant, mortality increased steadily with time. Considering the overall outcome of the bridging program (25 patients), bridge duration adversely affected survival (HR, 1.06 per day; 95% CI, 1.01-1.11; P = .015) and 1-year survival (Early, 82% vs Late, 29%; P = .015). Morbidity indexes were lower in patients treated with NIV during the bridge. Conclusions The duration of the ECMO bridge is a relevant cofactor in the mortality and morbidity of critically ill patients awaiting organ allocation. The NIV strategy was associated with a less complicated clinical course after LTX.
Abstract Background Two-stage hepatectomy (TSH) is the present standard for multiple bilobar colorectal liver metastases (CLM), but 25-35% of patients fail to complete the scheduled procedure ...(drop-out). To elucidate if drop-out of TSH is a patient selection (as usually considered) or a loss of chance. Methods All the consecutive patients scheduled for a TSH at the Paul Brousse Hospital between 2000 and 2012 were considered. TSH patients were matched 1:1 with patients receiving a one-stage ultrasound-guided hepatectomy (OSH) at the Humanitas Research Hospital in the same period. Matching criteria were: primary tumor N status; timing of CLM diagnosis; CLM number and distribution into the liver. Results Sixty-three pairs of patients were analyzed. Demographic and tumor characteristics were similar (median 7 CLM), except for more chemotherapy lines and adjuvant chemotherapy in TSH. Drop-out rate of TSH was 38.1% (0% of OSH). The two groups had similar R0 resection rate (19.0% OSH vs. 15.9% TSH). OSH and completed TSH had similar five-year survival (from CLM diagnosis 49.8% vs. 49.7%, from liver resection 36.1% vs. 44.3%), superior to drop-out (10% three-year survival, p<0.001). OSH and completed TSH had similar recurrence-free survival (at three years 21.7% vs. 20.5%) and recurrence sites. The completion of resection (drop-out vs. OSH/completed TSH) was the only independent prognostic factor (p=0.003). Conclusions Drop-out of TSH could be a loss of chance rather than a criteria for patient selection. “Unselected” OSH patients had the same outcomes of selected patients who completed TSH. A complete resection is the main determinant of prognosis.
A panel of experts in the field of endometriosis expressed their opinions on management options in a 35-year-old patient desiring pregnancy with a history of previous surgery for endometrioma and ...bowel obstruction symptoms. Many questions that this paradigmatic patient may pose to the clinician are addressed, and various clinical scenarios are discussed. A decision algorithm derived from this discussion is proposed as well.
Abstract Background Psoas muscle area (PMA) is a novel measure of frailty that can be efficiently measured from computed tomography images to help predict risk in older adults referred for ...transcatheter aortic valve replacement (TAVR). The objective of this study was to determine if PMA would be incrementally predictive of mortality and morbidity after TAVR. Methods The pre-TAVR computed tomography scans of 208 consecutive patients at 2 hospitals in Montreal and Munich were analyzed to measure the cross-sectional area of the left and right psoas muscles on a single axial slice at the level of L4. The primary outcome was all-cause mortality assessed according to sex-stratified Cox regression models adjusted for the Society of Thoracic Surgeons predicted risk of mortality. Results The mean age was 80.7 ± 6.8 years with 55% women and a total of 57 deaths over a mean follow-up of 504 days. PMA was lower in nonsurvivors compared with survivors among women (12.9 vs 14.5 cm2 ; P = 0.047) but not men (21.7 vs 22.4 cm2 ; P = 0.50). The association between PMA and all-cause mortality in women persisted after adjustment for Society of Thoracic Surgeons risk (hazard ratio, 0.88 per cm2 ; 95% confidence interval, 0.78-0.99). An association between PMA and bleeding complications was seen in men (odds ratio, 0.78; 95% confidence interval, 0.62-0.97). Sensitivity analyses with PMA normalized to body mass index yielded similar results. Conclusions This study has shown that PMA is a marker of frailty associated with midterm survival in women who undergo TAVR. Further research is warranted to pursue PMA as a prognostic marker and therapeutic target in this vulnerable population.
Adenomyosis: What the Patient Needs Alabiso, Giulia; Alio, Luigi; Arena, Saverio ...
Journal of minimally invasive gynecology,
05/2016, Letnik:
23, Številka:
4
Journal Article
Recenzirano
A panel of experts in the field of endometriosis expressed their opinions on management options in a 28-year-old patient, attempting pregnancy for 1 year, with severe cyclic pelvic pain and with ...clinical examination and imaging techniques suggestive of adenomyosis. Many questions this paradigmatic patient may pose to the clinician are addressed, and all clinical scenarios are discussed. A decision algorithm derived from this discussion is also proposed.
High Rate of Endometriosis Recurrence in Young Women Tandoi, Iacopo, MD; Somigliana, Edgardo, MD, PhD; Riparini, Jennifer, MD ...
Journal of pediatric & adolescent gynecology,
12/2011, Letnik:
24, Številka:
6
Journal Article
Recenzirano
Abstract Objective To evaluate rate and determinants of long-term recurrence of endometriosis in a population of young women. Design Retrospective cohort study. Setting University tertiary care ...referral center for women with benign gynecologic diseases. Participants Young women undergoing first-line conservative surgery for endometriosis were eligible for the study. Data on age at surgery, disease stage, anatomical characteristics of endometriotic lesions, and endometriosis-related symptoms were collected. After diagnosis, patients were treated according to the standard care of the center. The protocol required all women to be followed up 1 month after surgery, and every 6 months afterward, with an interview to investigate persistence of symptoms, a clinical examination, and an ultrasound pelvic assessment. Results Fifty-seven women aged ≤ 21 (mean age at diagnosis ± SD: 19.0 ± 1.1 years) entered the study. During a 5-year follow-up, 32 (56%, 95% confidence interval CI: 43%-68%) recurrences of endometriosis were diagnosed. A second laparoscopy to treat the recurrence was performed in 11 (34%) cases and confirmed the presence of the disease in all of them. In the remaining 21 (66%) cases, the recurrence was based on the reappearance of the symptoms or clinical or sonographic findings. The recurrence rate increased constantly with time from first surgery. No association emerged between recurrence rate and endometriosis-related symptoms, site/stage of the disease, type of surgery, and post-surgical medical treatment. Conclusions The recurrence rate of endometriosis in young women appears higher than in older women. Since no determinants for recurrence have been detected among the factors examined, a profile of women at increased risk cannot be drawn.
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