Prenatal Diagnosis and Management of Fetal Goiter Treated Successfully with Intra-Amniotic Levothyroxine

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Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples

Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples of fetuses affected by β-thalassemia compared to a control group by applying a metabolomics approach

Gas Chromatography–Mass Spectrometry (GC–MS) Metabolites Analysis in Endometriosis Patients: A Prospective Observational Translational Study

Background: Endometriosis affects women of reproductive age, and its pathogenesis is still unclear. Typically, it overlaps other similar medical and surgical conditions, determining a delay in early diagnosis. Metabolomics allows studying metabolic changes in different physiological or pathological states to discover new potential biomarkers. We used the gas chromatography–mass spectrometer (GC–MS) to explore metabolic alterations in endometriosis to better understand its pathophysiology and find new biomarkers. Methods: Twenty-two serum samples of patients with symptomatic endometriosis and ten without it were collected and subjected to GC–MS analysis. Multivariate and univariate statistical analyses were performed, followed by pathway analysis. Results: Partial least squares discriminant analysis was performed to determine the differences between the two groups (p = 0.003). Threonic acid, 3-hydroxybutyric acid, and proline increased significantly in endometriosis patients, while alanine and valine decreased. ROC curves were built to test the diagnostic power of metabolites. The pathway analysis identified the synthesis and degradation of ketone bodies and the biosynthesis of phenylalanine, tyrosine, and tryptophan as the most altered pathways. Conclusions: The metabolomic approach identifies metabolic alterations in women with endometriosis. These findings may improve our understanding of the pathophysiological mechanisms of disease and the discovery of new biomarkers

Metabolic fingerprinting of chorionic villous samples in normal pregnancy and chromosomal disorders

Placenta-related biological samples are used in biomedical research to investigate placental development. Metabolomics represents a promising approach for studying placental metabolism in an effort to explain physiological and pathological mechanisms. The aim of this study was to investigate metabolic changes in chorionic villi during the first trimester of pregnancy in euploid and aneuploid cases

Segmental transverse colectomy. Minimally invasive versus open approach: results from a multicenter collaborative study

none65noThe role of minimally invasive surgery in the treatment of transverse colon cancer is still controversial. The aim of this study is to investigate the advantages of a totally laparoscopic technique comparing open versus laparoscopic/robotic approach. Three hundred and eighty-eight patients with transverse colon cancer, treated with a segmental colon resection, were retrospectively analyzed. Demographic data, tumor stage, operative time, intraoperative complications, number of harvested lymph nodes and recovery outcomes were recorded. Recurrences and death were also evaluated during the follow-up. No differences were found between conventional and minimally invasive surgery, both for oncological long-term outcomes (recurrence rate p = 0.28; mortality p = 0.62) and postoperative complications (overall rate p = 0.43; anemia p = 0.78; nausea p = 0.68; infections p = 0.91; bleeding p = 0.62; anastomotic leak p = 0.55; ileus p = 0.75). Nevertheless, recovery outcomes showed statistically significant differences in favor of minimally invasive surgery in terms of time to first flatus (p = 0.001), tolerance to solid diet (p = 0.017), time to first mobilization (p = 0.001) and hospital stay (p = 0.004). Compared with laparoscopic approach, robotic surgery showed significantly better results for time to first flatus (p = 0.001), to first mobilization (p = 0.005) and tolerance to solid diet (p = 0.001). Finally, anastomosis evaluation confirmed the superiority of intracorporeal approach which showed significantly better results for time to first flatus (p = 0.001), to first mobilization (p = 0.003) and tolerance to solid diet (p = 0.001); moreover, we recorded a statistical difference in favor of intracorporeal approach for infection rate (p = 0.04), bleeding (p = 0.001) and anastomotic leak (p = 0.03). Minimally invasive approach is safe and effective as the conventional open surgery, with comparable oncological results but not negligible advantages in terms of recovery outcomes. Moreover, we demonstrated that robotic approach may be considered a valid option and an intracorporeal anastomosis should always be preferred.noneMilone, Marco; Degiuli, Maurizio; Velotti, Nunzio; Manigrasso, Michele; Vertaldi, Sara; D'Ugo, Domenico; De Palma, Giovanni Domenico; Dario Bruzzese, Giuseppe Servillo, Giuseppe De Simone, Katia Di Lauro, Silvia Sofia, Marco Ettore Allaix, Mario Morino, Rossella Reddavid, Carlo Alberto Ammirati, Stefano Scabini, Gabriele Anania, Cristina Bombardini, Andrea Barberis, Roberta Longhin, Andrea Belli, Francesco Bianco, Giampaolo Formisano, Giuseppe Giuliani, Paolo Pietro Bianchi, Davide Cavaliere, Leonardo Solaini, Claudio Coco, Gianluca Rizzo, Andrea Coratti, Raffaele De Luca, Michele Simone, Alberto Di Leo, Giovanni De Manzoni, Paola De Nardi, Ugo Elmore, Riccardo Rosati, Andrea Vignali, Paolo Delrio, Ugo Pace, Daniela Rega, Antonio Di Cataldo, Giovanni Li Destri, Annibale Donini, Luigina Graziosi, Andrea Fontana, Michela Mineccia, Sergio Gentilli, Manuela Monni, Mario Guerrieri, Monica Ortenzi, Francesca Pecchini, Micaela Piccoli, Italy. Corrado Pedrazzani, Giulia Turri, Sara Pollesel, Franco Roviello, Marco Rigamonti, Michele Zuolo, Mauro Santarelli, Federica Saraceno, Pierpaolo Sileri Giuseppe Sigismondo Sica, Luigi Siragusa Salvatore Pucciarelli, Matteo ZuinMilone, Marco; Degiuli, Maurizio; Velotti, Nunzio; Manigrasso, Michele; Vertaldi, Sara; D'Ugo, Domenico; De Palma, Giovanni Domenico; Dario Bruzzese, Giuseppe Servillo, Giuseppe De Simone, Katia Di Lauro, Silvia Sofia, Marco Ettore Allaix, Mario Morino, Rossella Reddavid, Carlo Alberto Ammirati, Stefano Scabini, Gabriele Anania, Cristina Bombardini, Andrea Barberis, Roberta Longhin, Andrea Belli, Francesco Bianco, Giampaolo Formisano, Giuseppe Giuliani, Paolo Pietro Bianchi, Davide Cavaliere, Leonardo Solaini, Claudio Coco, Gianluca Rizzo, Andrea Coratti, Raffaele De Luca, Michele Simone, Alberto Di Leo, Giovanni De Manzoni, Paola De Nardi, Ugo Elmore, Riccardo Rosati, Andrea Vignali, Paolo Delrio, Ugo Pace, Daniela Rega, Antonio Di Cataldo, Giovanni Li Destri, Annibale Donini, Luigina Graziosi, Andrea Fontana, Michela Mineccia, Sergio Gentilli, Manuela Monni, Mario Guerrieri, Monica Ortenzi, Francesca Pecchini, Micaela Piccoli, Italy. Corrado Pedrazzani, Giulia Turri, Sara Pollesel, Franco Roviello, Marco Rigamonti, Michele Zuolo, Mauro Santarelli, Federica Saraceno, Pierpaolo Sileri Giuseppe Sigismondo Sica, Luigi Siragusa Salvatore Pucciarelli, Matteo Zui

Colorectal Cancer Stage at Diagnosis Before vs During the COVID-19 Pandemic in Italy

IMPORTANCE 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 < .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

Screening and Invasive Testing in Twins

Prenatal screening and testing for trisomy 21 in twin pregnancies poses a number of challenges: the exact estimate of the a priori risk of trisomy 21, the choice of prenatal screening test and/or invasive techniques to employ for the diagnosis and the impact of the result on the options of treatment in case of discordant results within a twin pair or among multiples. These different aspects are discussed below while recognizing that many issues remain unresolved