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1. Congenital chylothorax: Current evidence-based prenatal and post-natal diagnosis and management

Author

Lc, Angelis, Bellini T, Mh, Witte, Ri, Kylat, Bernas M, Boccardo F, Paladini D, Gm, Magnano, Luca A. Ramenghi, and Bellini C

Subjects
Diagnostic Imaging, Evidence-Based Medicine, Clinical Decision-Making, Infant, Newborn, Disease Management, Hematology, Prognosis, Chylothorax, Combined Modality Therapy, Phenotype, Treatment Outcome, Pregnancy, Prenatal Diagnosis, Immunology and Allergy, Humans, Female, Disease Susceptibility, Symptom Assessment, Algorithms
Abstract

Congenital chylothorax is an uncommon condition but represents the main cause of congenital pleural effusion during the neonatal period. It usually appears before birth, both as an isolated disorder or in association with hydrops fetalis, negatively affecting the subsequent neonatal outcome. Prenatal treatment is usually considered to ensure a satisfactory lung development in case of moderate to severe pleural effusion or in the presence of hydrops, although consensus on treatment timing and modalities has not been reached to date. Both medical and surgical therapeutic strategies are available to treat this condition and novel treatment options have been recently attempted with acceptable results in both prenatal and post-natal setting. The heterogeneous clinical presentation of congenital chylothorax together with its rarity, its numerous etiologies and the absence of a highly effective treatment renders the diagnostic and therapeutic approach difficult to standardize. In addition, adequate visualization of the lymphatic system is complex, especially in small neonates, although new promising techniques have been developed lately and may contribute to improved management of this serious but infrequent condition. This review focuses on the current evidence base for the diagnosis and treatment options for congenital chylothorax, suggesting a rational diagnostic and therapeutic approach both in the prenatal and in the neonatal period.

Published
2019

2. Are all people with diabetes and cardiovascular risk factors or microvascular complications at very high risk? Findings from the Risk and Prevention Study

Author

Marzona, I., Avanzini, F., Lucisano, G., Tettamanti, M., Baviera, M., Nicolucci, A., Roncaglioni, M. C., Tombesi, M., Tognoni, G., Massa, E., Marrocco, W., Micalella, M., Caimi, V., Longoni, P., Franzosi, M. G., Monesi, L., Pangrazzi, I., Barlera, S., Milani, V., Nicolis, E., Casola, C., Clerici, F., Palumbo, A., Sgaroni, G., Marchioli, R., Silletta, M. G., Pioggiarella, R., Scarano, M., Marfisi, R. M., Flamminio, A., Macino, L., Ferri, B., Pera, C., Polidoro, A., Abbatino, D., Acquati, M., Addorisio, G., Adinolfi, D., Adreani, L., Agistri, M. R., Agneta, A., Agnolio, M. L., Agostini, N., Agostino, G., Airo, A., Alaimo, N., Albano, M., Albano, N., Alecci, G., Alemanno, S., Alexanian, A., Alfarano, M., Alfe, L., Alonzo, N., Alvino, S., Ancora, A., Andiloro, S., Andreatta, E., Angeli, S., Angiari, F., Angilletti, V., Annicchiarico, C., Anzivino, M., Aprea, R., Aprile, A., Aprile, E., Aprile, I., Aprile, L., Armellani, V., Arnetoli, M., Aronica, A., Autiero, V., Bacca, G., Baccalaro, A. M., Bacci, M., Baglio, G., Bagnani, M., Baiano, A., Baldari, A., Ballarini, L., Banchi, G., Bandera, R., Bandini, F., Baratella, M., Barbieri, A., Barbieri Vita, A., Bardi, M., Barlocchi, M., Baron, P., Bartoli, M., Basile, A., Basile, F., Basile, S., Battaggia, A., Battaglia, A., Bau, A., Beconcini, G., Beggio, R., Belfiore, P. A., Belicchi, M., Bellamoli, S., Bellini, C., Bellomo, M., Benetollo, C., Benetti, R., Beretta, E., Bertalero, P., Bertaso, F. G., Bertolani, U., Bettelli, G., Biagiotti, G., Bianchi, S., Bianco, G., Biccari, F., Bigioli, F., Bindi, M., Bisanti, G., Bitetti, E. M., Blasetti, M. P., Blesi, F., Boato, V., Boga, S., Boidi, E., Boldrin, G., Bollati, A., Bolzan, L., Bolzonella, S., Bonardi, P., Bonato, G. B., Bonci, M., Bonfitto, G., Bonincontro, E., Boninsegna, F., Bonissone, D., Bono, L., Bonollo, E., Borghi, M., Borioli, N., Borsatto, M., Bosco, T., Bosisio Pioltelli, M., Botarelli, C., Botassis, S., Bottini, F., Bottos, C., Bova, G., Bova, V., Bozzani, A., Bozzetto, R. M., Braga, V. T., Braglia, M., Bramati, E., Brazzoli, C., Breglia, G., Brescia, A., Briganti, D., Brigato, G., Brocchi, A., Brosio, F. A., Bruni, E., Buscaglia, E., Bussini, M. D., Bussotti, A., Buzzaccarini, F., Buzzatti, A., Caccamo, G., Cacciavillani, C., Caggiano, G., Calciano, F. P., Calderisi, M., Calienno, S., Caltagirone, P., Calzolari, I., Cammisa, M., Campanaro, M., Campanella, G. B., Campese, F., Canali, G., Candiani, D. E. L., Canepa, R., Canini, D., Canino, A., Cantoro, E. A., Capilupi, V., Capotosto, P., Cappelli, B., Capraro, G., Carafa, F. A., Carano, Q., Carcaterra, V., Carriero, D., Carrozzo, G., Cartanese, M., Casalena, M., Casarola, M., Caso, C., Casotto, M., Castaldi, F., Castegnaro, R., Castellani, G., Castri, S., Catalano, E., Catinello, N., Caturano, G., Cavallaro, R., Cavallo, A. M., Cavallo, G., Cavion, M. T., Cavirani, G., Cazzaniga, F., Cazzetta, D., Cecconi, V., Cefalo, A., Celebrano, M., Celora, A., Centonze, P., Cerati, D., Cesaretti, D., Checchia, G., Checchin, A., Cherubini, M., Chianese, L., Chiappa, A., Chiappa, M. V., Chiariello, G., Chiavini, G., Chicco, M., Chiumeo, F., Ciacciarelli, A., Ciaci, D., Ciancaglini, R., Cicale, C., Cicale, S., Cipolla, A., Ciruolo, A., Citeri, A. L., Citterio, G., Clerici, M., Coazzoli, E., Collecchia, G., Colletta, F., Colombo, I., Colorio, P., Coluccia, S., Comerio, M., Comoretto, P., Compagni, M., Conte, O., Contri, S., Contrisciani, A., Coppetti, T., Corasaniti, F., Corradi, M. T., Corsano, A., Corsini, A., Corti, N., Costantini, G., Costantino, A., Cotroneo, S., Cozzi, D., Cravello, M. G., Cristiano, E., Cucchi, R., Cusmai, L., D'Errico, G. B., D'Agostino, P., Dal Bianco, L., Dal Mutto, U., Dal Pozzo, G., Dallapiccola, P., Dallatorre, G., Dalle Molle, G., Dalloni, E., D'Aloiso, A., D'Amicis, G., Danese, R., Danieli, D., Danisi, G., D'Anna, M. A., Danti, G., D'Ascanio, S., Davidde, G., De Angeli, D., De Bastiani, R., De Battisti, A., De Bellis, A., De Berardinis, G., De Carlo, F., De Giorgi, D., De Gobbi, R., De Lorenzis, E., De Luca, P., De Martini, G., De Marzi, M., De Matteis, D., De Padova, S., De Polo, P., De Sabato, N., De Stefano, T., De Vita, M. T., De Vito, U., De Zolt, V., Debernardi, F., Del Carlo, A., Del Re, G., Del Zotti, F., D'Elia, R., Della Giovanna, P., Dell'Acqua, L., Dell'Orco, R. L., Demaria, G., Di Benedetto, M. G., Di Chiara, G., Di Corcia, V., Di Domizio, O., Di Donato, P., Di Donato, S., Di Fermo, G., Di Franco, M., Di Giovannantonio, G., Di Lascio, G., Di Lecce, G., Di Lorenzo, N., Di Maro, T., Di Mattia, Q., Di Michele, E., Di Modica, R. S., Di Murro, D., Di Noi, M. C., Di Paoli, V., Di Santi, M., Di Sanzo, A., Di Turi, C., Diazzi, A., Dileo, I., D'Ingianna, A. P., Dolci, A., Dona, G., Donato, C., Donato, P., Donini, A., Donna, M. E., Donvito, T. V., Esposito, L., Esposito, N., Evangelista, M., Faita, G., Falco, M., Falcone, D. A., Falorni, F., Fanciullacci, A., Fanton, L., Fasolo, L., Fassina, R., Fassone, A., Fatarella, P., Fedele, F., Fera, I., Fera, L., Ferioli, S., Ferlini, M. G., Ferlino, R., Ferrante, G., Ferrara, F. N., Ferrarese, M. F., Ferrari, G., Ferrari, O., Ferreri, A., Ferroni, M., Fezzi, G., Figaroli, C., Fina, M. G., Fioretta, A., Fiorucci, C., Firrincieli, R., Fischetti, M., Fischietti, G., Fiume, D. C., Flecchia, G., Forastiere, G., Fossati, B., Franceschi, P. L., Franchi, L., Franzoso, F., Frapporti, G., Frasca, G., Frisotti, A., Fumagalli, G., Fusco, D., Gabriele, P., Gabrieli, A., Gagliano, D., Galimberti, G., Galli, A., Gallicchio, N., Gallio, F., Gallipoli, T., Gallo, P., Galopin, T., Gambarelli, L., Garbin, A., Garozzo, G. M., Gasparri, R., Gastaldo, M., Gatti, E., Gazzaniga, P., Gennachi, N., Gentile, R. V., Germani, P., Gesualdi, F., Gherardi, E., Ghezzi, C., Ghidini, M. G., Ghionda, F., Giacci, L., Gialdini, D., Giampaolo, C., Giancane, R., Giannanti, A., Giannese, S., Giannini, L., Giaretta, M., Giaretta, R., Giavardi, L., Giordano, P., Giordano, E., Giordano, B., Gioria, G. M., Giugliano, R., Grassi, E. A., Greco, A., Greco, L., Grilletti, N., Grimaldi, N., Grisetti, G., Groppelli, G., Gualtieri, L., Guarducci, M., Guastella, G., Guerra, M., Guerrini, F., Guglielmini, A., Guido, A., Gulotta, P., Iacono, E., Iadarola, G., Ianiro, G., Iarussi, V., Ieluzzi, M. L., Ierardi, C., Ingaldi, F., Interlandi, S., Iocca, M., Iorno, A., Ioverno, E., Iurato, R., La Pace, L., La Piscopia, C., La Selva, R., Lafratta, M., Lamparelli, M., Lanaro, G., Lancerotto, R., Larcher, M., Lassandro, M., Lattuada, G., Laurino, P., Lefons, C., Legrottaglie, F., Lemma, A., Leone, D., Leone, F., Leso, A., Leuzzi, G., Levato, G., Libardi, L., Libralesso, N., Licini, P. I., Licursi, G., Lidonnici, F., Lillo, C., Liveri, L., Livio, A., Loiero, R. A., Loison, M., Lombardo, G., Lombardo, T., Lomunno, V., Lomuscio, S., Lonedo, A., Longo, E., Lora, L., Lotterio, A., Lucatello, L., Luongo, A., Lupoli, M., Macchia, C., Macri, G., Mafessanti, M., Maggialetti, V., Maggioni, A., Magnani, M., Maiellaro, G., Mancuso, A., Maniglio, A. R., Mannari, G. L., Manni, A., Manocchio, B., Mao, M., Marano, A., Maraone, E., Marascio, D., Marcheselli, P., Marchetto, B., Marchetto, S., Marchi, A., Marchi, G. L., Mariano, C., Marinacci, S., Marinelli, S., Marini, G., Marra, V. C., Marrali, F., Marseglia, C., Martello, G., Martino, C., Martino, G., Martino, M., Marulli, C. F., Maruzzi, G., Marzotti, A., Mascheroni, G., Mascolo, P., Masoch, G., Masone, R., Massa, L., Massafra, M., Massi, M., Massignani, D. M., Matarese, A. M., Matini, G., Mauro, R., Mazzi, M., Mazzillo, A., Mazzocato, E., Mazzoleni, N. S., Mazzone, A., Melacci, A., Mele, E., Meliota, P., Menaspa, S., Meneghello, F., Merola, G., Merone, L., Metrucci, A., Mezzina, V., Micchi, A., Michielon, A., Migliore, N., Minero, G., Minotta, F., Mirandola, C., Mistrorigo, S., Modafferi, L., Moitre, R., Mola, E., Monachese, C., Mongiardini, C., Montagna, F., Montani, M., Montemurno, I., Montolli, R., Montorsi, S., Montresor, M., Monzani, M. G., Morabito, F., Mori, G., Moro, A., Mosca, M. F., Motti, F., Muddolon, L., Mugnai, M., Muscas, F., Naimoli, F., Nanci, G., Nargi, E., Nasorri, R., Nastrini, G., Negossi, M., Negrini, A., Negroni, A., Neola, V., Niccolini, F., Niro, C. M., Nosengo, C., Novella, G., Nuti, C., Obici, F., Olita, C., Oliverio, S. S., Olivieri, I., Oriente, S., Orlando, G., Paci, C., Pagano, G., Pagliara, C., Paita, G., Paladini, G., Paladino, G., Palano, T., Palatella, A., Palermo, P., Palmisano, M., Pando, P., Panessa, P., Panigo, F., Panozzo, G., Panvini, F., Panzieri, F., Panzino, A., Panzitta, F., Paoli, N., Papagna, R., Papaleo, M. G., Papalia, G., Parisi, R., Parotti, N., Parravicini, D., Passarella, P., Pastore, G. A., Patafio, M., Pavone, P., Pedroli, W., Pedroni, M., Pelligra, G., Pellizzari, M., Penati, A., Perlot, M., Perrone, A., Perrone, G., Peruzzi, P., Peselli, C., Petracchini, L., Petrera, L., Petrone, S., Peverelli, C., Pianorsi, F., Piazza, G. P., Piazzolla, G., Picci, A., Pienabarca, G., Pietronigro, T. P., Pignocchino, P., Pilone, R., Pinto, D., Pirovano, E., Pirrotta, D., Pisante, V., Pitotto, P., Pittari, L., Piva, A., Pizzoglio, A., Plantera, O. R., Plebani, W., Plessi, S., Podrecca, D., Poerio, V., Poggiani, F., Pogliani, W., Poli, L., Poloni, F. G., Porcelli, R., Porto, S., Pranzo, L., Prevedello, C., Profeta, C., Profico, D., Punzi, A., Quaglia, G. M., Racano, M., Raccone, A., Radice, F., Raho, C. A., Raimondi, R., Raino, M., Ramponi, R., Ramunni, A., Ramunni, A. L., Ravasio, F., Ravera, M., Re Sarto, G., Rebustello, G., Regazzoli, S., Restelli, C., Rezzonico, M., Ricchiuto, F., Rigo, S., Rigon, G., Rigon, R., Rinaldi, O. V., Rinaldi, M., Risplendente, P. G., Rispoli, M., Riundi, R., Riva, M. G., Rizzi, A. L., Rizzi, D., Rizzo, L. D., Rocchi, L., Rondinone, B., Rosa, B., Rosati, F., Roselli, F., Rossetti, A., Rossetti, C., Rossi, R., Rossi, P. R., Rossi, A., Rossi, C. L., Rossitto, A., Ruffini, R., Ruffo, A., Ruggio, S., Ruo, M., Russo, B., Russo, L., Russo, R., Russo, S., Russo, U., Russo, V., Ruta, G., Sacchi, F., Sacco Botto, F., Saia, A., Salladini, G., Salmoiraghi, S., Saluzzo, F., Salvatore, C., Salvatori, E., Salvio, G., Sandri, P., Sandrini, T., Sangermano, V., Santoni, N., Saracino, A. D., Saracino, A., Sarasin, P., Sardo Infirri, C., Sarri, B., Sartori, G., Sartori, N., Sauro, C., Scaglioni, M., Scalfi, C., Scamardella, A. M., Scandale, G., Scandone, L., Scannavini, G., Scarati, R., Scardi, A., Scarpa, F. M., Scazzi, P., Schifone, A., Schiroso, G., Scigliano, G., Scilla, A., Sciortino, M., Scolaro, G., Scollo, E., Scorretti, G., Sellitti, R., Selmo, A., Selvaggio, G., Sempio, A., Seren, F., Serio, L., Serra, C., Serra, L., Siciliano, D., Sideri, A., Sighele, M., Signore, R., Siliberto, F., Silvestro, M., Simioni, G., Simmini, G., Simonato, L., Sinchetto, F., Sizzano, E., Smajato, G., Smaldone, M., Sola, G., Sordillo, L., Sovran, C. S., Spagnul, P., Spano, F., Sproviero, S., Squintani, A., Stella, L., Stilo, V., Stocchiero, B., Stornello, M. C., Stracka, G., Strada, S., Stranieri, G., Stucci, N., Stufano, N., Suppa, A., Susca, V. G., Sutti, M., Taddei, M., Tagliabue, E., Tagliente, G., Talato, F., Talerico, P., Talia, R., Taranto, R., Tartaglia, M., Tauro, N., Tedesco, A., Tieri, P., Tirelli, M., Tocci, L., Todesco, P., Tognolo, M., Tomba, A., Tonello, P., Tonon, R., Toscano, L., Tosi, A., Tosi, G., Toso, S., Travaglio, P., Tremul, L., Tresso, C., Triacchini, P., Triggiano, L., Trigilio, A., Trimeloni, J., Tripicchio, G., Tritto, G. S., Trono, F., Trotta, E., Trotta, G., Tubertini, A., Turri, C., Turri, L., Tuttolani, M. P., Urago, M., Ursini, G., Valcanover, F., Valente, L., Valenti, M., Valentini, F., Vallone, G., Valz, P., Valzano, L., Vanin, V., Vatteroni, M., Vegetti, L., Vendrame, D., Veramonti, I., Veronelli, G., Vesco, A., Vicariotto, G., Vignale, G., Villa, P. L., Vinciguerra, R., Visco, A., Visentin, G., Visona, E., Vitali, E., Vitali, S., Vitti, F., Volpone, D. A., Zambon, N., Zammarrelli, A., Zanaboni, A., Zane, D., Zanetti, B., Zanibellato, R., Zappetti, M., Zappone, P., Zerilli, G., Zirino, V., Zoccali, R., Zuin, F., Altomonte, M., Anelli, N., Angio, F., Annale, P., Antonacci, S., Anzilotta, R., Bano, F., Basadonna, O., Beduschi, L., Becagli, P., Bellotti, G., Blotta, C., Bruno, G., Cappuccini, A., Caramatti, S., Cariolato, M. P., Castellana, M., Castellani, L., Catania, R., Chielli, A., Chinellato, A., Ciaccia, A., Clerici, E., Cocci, A., Costanzo, G., D'Ercole, F., De Stefano, G., Dece, F., Di Cicco, N., Di Marco, A., Donati Sarti, C., Draghi, E., Dusi, G., Esposito, V., Ferraro, L., Ferretti, A., Ferri, E., Foggetti, L., Foglia, A., Fonzi, E., Frau, G., Fuoco, M. R., Furci, G., Gallo, L., Garra, V., Giannini, A., Gris, A., Iacovino, R., Interrigi, R., Joppi, R., Laner, B., La Fortezza, G., La Padula, A., Lista, M. R., Lupi, G., Maffei, D., Maggioni, G., Magnani, L., Marrazzo, E., Marcon, L., Marino, V., Maroni, A., Martinelli, C., Mastandrea, E., Mastropierro, F., Meo, A. T., Mero, P., Minesso, E., Moschetta, V., Mosele, E., Nanni, C., Negretti, A., Nistico, C., Orsini, A., Osti, M., Pacilli, M. C., Pennestre, C., Picerno, G., Piol, K., Pivano, L., Pizzuti, E., Poggi, L., Poidomani, I., Pozzetto, M., Presti, M. L., Ravani, R., Recalenda, V., Romagnuolo, F., Rossignoli, S., Rossin, E., Sabatella, C., Sacco, F., Sanita, F., Sansone, E., Servadei, F., Sisto, M. T., Sorio, A., Sorrentino, A., Spinelli, E., Spolaor, A., Squillacioti, A., Stella, P., Talerico, A., Todisco, C., Vadino, M., and Zuliani, C.

Subjects
Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Overweight, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Prediction model, Internal medicine, Diabetes mellitus, Internal Medicine, Diabetes Mellitus, Medicine, Humans, Multicenter Studies as Topic, Myocardial infarction, Risk factor, education, Stroke, Aged, Randomized Controlled Trials as Topic, education.field_of_study, Lifestyle habits, business.industry, Major cardiovascular events, Atrial fibrillation, General Medicine, Middle Aged, medicine.disease, Cardiovascular Diseases, Heart failure, Physical therapy, Female, medicine.symptom, business, Diabetic Angiopathies
Abstract

To verify whether it is possible, in people with diabetes mellitus (DM) considered at very high cardiovascular (CV) risk, stratify this risk better and identify significant modifiable risk factor (including lifestyle habits) to help patients and clinicians improve CV prevention. People with DM and microvascular diseases or one or more CV risk factors (hypertension, hyperlipidemia, smoking, poor dietary habits, overweight, physical inactivity) included in the Risk and Prevention study were selected. We considered the combined endpoint of non-fatal acute myocardial infarction and stroke and CV death. A multivariate Cox proportional analysis was carried out to identify relevant predictors. We also used the RECPAM method to identify subgroups of patients at higher risk. In our study, the rate of major CV events was lower than expected (5 % in 5 years). Predictors of CV events were age, male, sex, heart failure, previous atherosclerotic disease, atrial fibrillation, insulin treatment, high HbA1c, heart rate and other CV diseases while being physically active was protective. RECPAM analysis indicated that history of atherosclerotic diseases and a low BMI defined worse prognosis (HR 4.51 95 % CI 3.04–6.69). Among subjects with no previous atherosclerotic disease, men with HbA1c more than 8 % were at higher CV risk (HR 2.77; 95 % CI 1.86–4.14) with respect to women. In this population, the rate of major CV events was lower than expected. This prediction model could help clinicians identify people with DM at higher CV risk and support them in achieving goals of physical activity and HbA1c.

Published
2016

3. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW

Author

Morcaldi, G., Bellini, T., Rossi, C., Maghnie, M., FRANCESCO MARIA BOCCARDO, Bonioli, E., and Bellini, C.

Subjects
Heart Defects, Congenital, lymphodysplasia, KRAS mutation, Facies, lymphedema, lymphodysplasia, KRAS mutation, chylothorax, lymphedema, Failure to Thrive, Proto-Oncogene Proteins p21(ras), chylothorax, Ectodermal Dysplasia, Mutation, Humans, Female, Child
Abstract

Cardio-facio-cutaneous (CFC) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and neurodevelopmental delay. This syndrome is classified as one of the RAS syndromes which are caused by altered signal transduction of the RAS/MAPK (mitogen activated protein kinase) pathway due to the mutation of genes including BRAF, MEK1/2, HRAS and KRAS. Other RAS syndromes, such as Costello syndrome and Noonan syndrome, share clinical features with CFC. Moreover, patients with the same clinical phenotype may have different molecular diagnoses. Clinical diagnosis is the starting pointfor correct classification. We describe the clinical data of one case of CFC syndrome, genetically determined by KRAS mutation, that involved chylothorax, lymphedema, sinus pericranii, craniosynostosis, and seizures. This is the second case report of the literature.

Published
2016

4. Dynamics of pleural fluid effusion and chylothorax in the fetus and newborn: role of the lymphatic system

Author

Bellini, C., Ergaz, Z., FRANCESCO MARIA BOCCARDO, Bellini, T., Campisi, C. C., Bonioli, E., and Ramenghi, L. A.

Subjects
Lymphatic System, Pleural Effusion, Pregnancy, Infant, Newborn, Infant, Humans, Female, physiopathology, Newborn, embryology/physiopathology, Chylothorax, physiopathology, Female, Humans, Infant, Newborn, Lymphatic System, embryology/physiopathology, Pleural Effusion, physiopathology, Pregnancy
Abstract

Pleural fluid effusion particularly chylothorax is a relatively rare occurrence in the newborn, but when it occurs it is often life-threatening. In this article, we describe and illustrate the morphologic features of the visceral and parietal pleura including pleural lymphatics and the physiology and pathophysiology of pleural fluid balance. The role and function of the lymphatic system in controlling the volume and composition of pleural liquid are detailed and a conceptual scheme presented. Finally, the crucial role of inadequate lymphatic drainage (either functional overload from an imbalance in Starling forces or mechanical insufficiency from lymphatic dysplasia) is emphasized.

Published
2013

5. N-3 fatty acids in patients with multiple cardiovascular risk factors

Author

Roncaglioni, Maria Carla, Avanzini, Fausto, Barlera, Simona, Marzona, Irene, Milani, Valentina, Tombesi, Massimo, Caimi, Vittorio, Longoni, Paolo, Silletta, Maria Giuseppina, Tognoni, Gianni, Marchioli, Avanzini F, Roberto., Caimi, V, Longoni, P, Marchioli, R, Roncaglioni, Mc, Silletta, Mg, Tognoni, G, Tombesi, M, Barlera, S, Milani, V, Nicolis, Eb, Casola, C, Marzona, I, Massa, E, Marrocco, W, Micalella, M, Avanzini, F, Franzosi, Mg, Geraci, E, Giansiracusa, N, Rocchetti, L, Decarli, A, Satolli, R, Alli, C, Beghi, E, Bertele', V, Volpi, A, Baviera, M, Monesi, L, Pangrazzi, I, Nicolis, E, Clerici, F, Palumbo, A, Sgaroni, G, Pioggiarella, R, Scarano, M, Marfisi, Rm, Flamminio, A, Macino, L, Ferri, B, Pera, C, Polidoro, A, Abbatino, D, Acquati, M, Addorisio, G, Adinolfi, D, Adreani, L, Agistri, Mr, Agneta, A, Agnolio, Ml, Agostini, N, Agostino, G, Airò, A, Alaimo, N, Albano, M, Albano, N, Alecci, G, Alemanno, S, Alexanian, A, Alfarano, M, Alfè, L, Alonzo, N, Alvino, S, Ancora, A, Andiloro, S, Andreatta, E, Angeli, S, Angiari, F, Angilletti, V, Annicchiarico, C, Anzivino, M, Aprea, R, Aprile, A, Aprile, E, Aprile, I, Aprile, L, Armellani, V, Arnetoli, M, Aronica, A, Autiero, V, Bacca, G, Baccalaro, Am, Bacci, M, Baglio, G, Bagnani, M, Baiano, A, Baldari, A, Ballarini, L, Banchi, G, Bandera, R, Bandini, F, Baratella, M, Barbieri, A, Barbieri Vita, A, Bardi, M, Barlocchi, M, Baron, P, Bartoli, M, Basile, A, Basile, F, Basile, S, Battaggia, A, Battaglia, A, Baù, A, Beconcini, G, Beggio, R, Belfiore, Pa, Belicchi, M, Bellamoli, S, Bellini, C, Bellomo, M, Benetollo, C, Benetti, R, Beretta, E, Bertalero, P, Bertaso, Fg, Bertolani, U, Bettelli, G, Biagiotti, G, Bianchi, S, Bianco, G, Biccari, F, Bigioli, F, Bindi, M, Bisanti, G, Bitetti, Em, Blasetti, Mp, Blesi, F, Boato, V, Boga, S, Boidi, E, Boldrin, G, Bollati, A, Bolzan, L, Bolzonella, S, Bonardi, P, Bonato, Gb, Bonci, M, Bonfitto, G, Bonincontro, E, Boninsegna, F, Bonissone, D, Bono, L, Bonollo, E, Borghi, M, Borioli, N, Borsatto, M, Bosco, T, Bosisio Pioltelli, M, Botarelli, C, Botassis, S, Bottini, F, Bottos, C, Bova, G, Bova, V, Bozzani, A, Bozzetto, Rm, Braga, Vt, Braglia, M, Bramati, E, Brazzoli, C, Breglia, G, Brescia, A, Briganti, D, Brigato, G, Brocchi, A, Brosio, Fa, Bruni, E, Buscaglia, E, Bussini, Md, Bussotti, A, Buzzaccarini, F, Buzzatti, A, Caccamo, G, Cacciavillani, C, Caggiano, G, Calciano, Fp, Calderisi, M, Calienno, S, Caltagirone, P, Calzolari, I, Cammisa, M, Campanaro, M, Campanella, Gb, Campese, F, Canali, G, Candiani, De, Canepa, R, Canini, D, Canino, A, Cantoro, Ea, Capilupi, V, Capotosto, P, Cappelli, B, Capraro, G, Carafa, Fa, Carano, Q, Carcaterra, V, Carriero, D, Carrozzo, G, Cartanese, M, Casalena, M, Casarola, M, Caso, C, Casotto, M, Castaldi, F, Castegnaro, R, Castellani, G, Castri, S, Catalano, E, Catinello, N, Caturano, G, Cavallaro, R, Cavallo, Am, Cavallo, G, Cavion, Mt, Cavirani, G, Cazzaniga, F, Cazzetta, D, Cecconi, V, Cefalo, A, Celebrano, M, Celora, A, Centonze, P, Cerati, D, Cesaretti, D, Checchia, G, Checchin, A, Cherubini, M, Chianese, L, Chiappa, A, Chiappa, Mv, Chiariello, G, Chiavini, G, Chicco, M, Chiumeo, F, Ciacciarelli, A, Ciaci, D, Ciancaglini, R, Cicale, C, Cicale, S, Cipolla, A, Ciruolo, A, Citeri, Al, Citterio, G, Clerici, M, Coazzoli, E, Collecchia, G, Colletta, F, Colombo, I, Colorio, P, Coluccia, S, Comerio, M, Comoretto, P, Compagni, M, Conte, O, Contri, S, Contrisciani, A, Coppetti, T, Corasaniti, F, Corradi, Mt, Corsano, A, Corsini, A, Corti, N, Costantini, G, Costantino, A, Cotroneo, S, Cozzi, D, Cravello, Mg, Cristiano, E, Cucchi, R, Cusmai, L, D' Errico GB, D'Agostino, P, Dal Bianco, L, Dal Mutto, U, Dal Pozzo, G, Dallapiccola, P, Dallatorre, G, Dalle Molle, G, Dalloni, E, D'Aloiso, A, D'Amicis, G, Danese, R, Danieli, D, Danisi, G, D'Anna, Ma, Danti, G, D'Ascanio, S, Davidde, G, De Angeli, D, De Bastiani, R, De Battisti, A, De Bellis, A, De Berardinis, G, De Carlo, F, De Giorgi, D, De Gobbi, R, De Lorenzis, E, De Luca, P, De Martini, G, De Marzi, M, De Matteis, D, De Padova, S, De Polo, P, De Sabato, N, De Stefano, T, De Vita MT, De Vita, U, De Zolt, V, Debernardi, F, Del Carlo, A, Del Re, G, Del Zotti, F, D'Elia, R, Della Giovanna, P, Dell'Acqua, L, Dell'Orco, Rl, Demaria, G, Di Benedetto MG, Di Chiara, G, Di Corcia, V, Di Domizio, O, Di Donato, P, Di Donato, S, Di Fermo, G, Di Franco, M, Di Giovannantonio, G, Di Lascio, G, Di Lecce, G, Di Lorenzo, N, Di Maro, T, Di Mattia, Q, Di Michele, E, Di Modica RS, Di Murro, D, Di Noi MC, Di Paoli, V, Di Santi, M, Di Sanzo, A, Di Turi, C, Diazzi, A, Dileo, I, D'Ingianna, Ap, Dolci, A, Donà, G, Donato, C, Donato, P, Donini, A, Donna, Me, Donvito, Tv, Esposito, L, Esposito, N, Evangelista, M, Faita, G, Falco, M, Falcone, Da, Falorni, F, Fanciullacci, A, Fanton, L, Fasolo, L, Fassina, R, Fassone, A, Fatarella, P, Fedele, F, Fera, I, Fera, L, Ferioli, S, Ferlini, Mg, Ferlino, R, Ferrante, G, Ferrara, Fn, Ferrarese, Mf, Ferrari, G, Ferrari, O, Ferreri, A, Ferroni, M, Fezzi, G, Figaroli, C, Fina, Mg, Fioretta, A, Fiorucci, C, Firrincieli, R, Fischetti, M, Fischietti, G, Fiume, Dc, Flecchia, G, Forastiere, G, Fossati, B, Franceschi, Pl, Franchi, L, Franzoso, F, Frapporti, G, Frasca, G, Frisotti, A, Fumagalli, G, Fusco, D, Gabriele, P, Gabrieli, A, Gagliano, D, Galimberti, G, Galli, A, Gallicchio, N, Gallio, F, Gallipoli, T, Gallo, P, Galopin, T, Gambarelli, L, Garbin, A, Garozzo, Gm, Gasparri, R, Gastaldo, M, Gatti, E, Gazzaniga, P, Gennachi, N, Gentile, Rv, Germani, P, Gesualdi, F, Gherardi, E, Ghezzi, C, Ghidini, Mg, Ghionda, F, Giacci, L, Gialdini, D, Giampaolo, C, Giancane, R, Giannanti, A, Giannese, S, Giannini, L, Giaretta, M, Giaretta, R, Giavardi, L, Giordano, P, Giordano, E, Giordano, B, Gioria, Gm, Giugliano, R, Grassi, Ea, Greco, A, Greco, L, Grilletti, N, Grimaldi, N, Grisetti, G, Groppelli, G, Gualtieri, L, Guarducci, M, Guastella, G, Guerra, M, Guerrini, F, Guglielmini, A, Guido, A, Gulotta, P, Iacono, E, Iadarola, G, Ianiro, G, Iarussi, V, Ieluzzi, Ml, Ierardi, C, Ingaldi, F, Interlandi, S, Iocca, M, Iorno, A, Ioverno, E, Iurato, R, La Pace, L, La Piscopia, C, La Selva, R, Lafratta, M, Lamparelli, M, Lanaro, G, Lancerotto, R, Larcher, M, Lassandro, M, Lattuada, G, Laurino, P, Lefons, C, Legrottaglie, F, Lemma, A, Leone, D, Leone, F, Leso, A, Leuzzi, G, Levato, G, Libardi, L, Libralesso, N, Licini, Pi, Licursi, G, Lidonnici, F, Lillo, C, Liveri, L, Livio, A, Loiero, Ra, Loison, M, Lombardo, G, Lombardo, T, Lomunno, V, Lomuscio, S, Lonedo, A, Longo, E, Lora, L, Lotterio, A, Lucatello, L, Luongo, A, Lupoli, M, Macchia, C, Macri, G, Mafessanti, M, Maggialetti, V, Maggioni, A, Magnani, M, Maiellaro, G, Mancuso, A, Maniglio, Ar, Mannari, Gl, Manni, A, Manocchio, B, Mao, M, Maranò, A, Maraone, E, Marascio, D, Marcheselli, P, Marchetto, B, Marchetto, S, Marchi, A, Marchi, Gl, Mariano, C, Marinacci, S, Marinelli, S, Marini, G, Marra, Vc, Marrali, F, Marseglia, C, Martello, G, Martino, C, Martino, G, Martino, M, Marulli, Cf, Maruzzi, G, Marzotti, A, Mascheroni, G, Mascolo, P, Masoch, G, Masone, R, Massa, L, Massafra, M, Massi, M, Massignani, Dm, Matarese, Am, Matini, G, Mauro, R, Mazzi, M, Mazzillo, A, Mazzocato, E, Mazzoleni, Ns, Mazzone, A, Melacci, A, Mele, E, Meliota, P, Menaspà, S, Meneghello, F, Merola, G, Merone, L, Metrucci, A, Mezzina, V, Micchi, A, Michielon, A, Migliore, N, Minero, G, Minotta, F, Mirandola, C, Mistrorigo, S, Modafferi, L, Moitre, R, Mola, E, Monachese, C, Mongiardini, C, Montagna, F, Montani, M, Montemurno, I, Montolli, R, Montorsi, S, Montresor, M, Monzani, Mg, Morabito, F, Mori, G, Moro, A, Mosca, Mf, Motti, F, Muddolon, L, Mugnai, M, Muscas, F, Naimoli, F, Nanci, G, Nargi, E, Nasorri, R, Nastrini, G, Negossi, M, Negrini, A, Negroni, A, Neola, V, Niccolini, F, Niro, Cm, Nosengo, C, Novella, G, Nuti, C, Obici, F, Olita, C, Oliverio, Ss, Olivieri, I, Oriente, S, Orlando, G, Paci, C, Pagano, G, Pagliara, C, Paita, G, Paladini, G, Paladino, G, Palano, T, Palatella, A, Palermo, P, Palmisano, M, Pando, P, Panessa, P, Panigo, F, Panozzo, G, Panvini, F, Panzieri, F, Panzino, A, Panzitta, F, Paoli, N, Papagna, R, Papaleo, Mg, Papalia, G, Parisi, R, Parotti, N, Parravicini, D, Passarella, P, Pastore, Ga, Patafio, M, Pavone, P, Pedroli, W, Pedroni, M, Pelligra, G, Pellizzari, M, Penati, A, Perlot, M, Perrone, A, Perrone, G, Peruzzi, P, Peselli, C, Petracchini, L, Petrera, L, Petrone, S, Peverelli, C, Pianorsi, F, Piazza, Gp, Piazzolla, G, Picci, A, Pienabarca, G, Pietronigro, Tp, Pignocchino, P, Pilone, R, Pinto, D, Pirovano, E, Pirrotta, D, Pisante, V, Pitotto, P, Pittari, L, Piva, A, Pizzoglio, A, Plantera, Or, Plebani, W, Plessi, S, Podrecca, D, Poerio, V, Poggiani, F, Pogliani, W, Poli, L, Poloni, Fg, Porcelli, R, Porto, S, Pranzo, L, Prevedello, C, Profeta, C, Profico, D, Punzi, A, Quaglia, Gm, Racano, M, Raccone, A, Radice, F, Raho, Ca, Raimondi, R, Rainò, M, Ramponi, R, Ramunni, A, Ramunni, Al, Ravasio, F, Ravera, M, Re Sartò, G, Rebustello, G, Regazzoli, S, Restelli, C, Rezzonico, M, Ricchiuto, F, Rigo, S, Rigon, G, Rigon, R, Rinaldi, Ov, Rinaldi, M, Risplendente, Pg, Rispoli, M, Riundi, R, Riva, Mg, Rizzi, Al, Rizzi, D, Rizzo, Ld, Rocchi, L, Rondinone, B, Rosa, B, Rosati, F, Roselli, F, Rossetti, A, Rossetti, C, Rossi, R, Rossi, Pr, Rossi, A, Rossi, Cl, Rossitto, A, Ruffini, R, Ruffo, A, Ruggio, S, Ruo, M, Russo, B, Russo, L, Russo, R, Russo, S, Russo, U, Russo, V, Ruta, G, Sacchi, F, Sacco Botto, F, Saia, A, Salladini, G, Salmoiraghi, S, Saluzzo, F, Salvatore, C, Salvatori, E, Salvio, G, Sandri, P, Sandrini, T, Sangermano, V, Santoni, N, Saracino, Ad, Saracino, A, Sarasin, P, Sardo Infirri, C, Sarrì, B, Sartori, G, Sartori, N, Sauro, C, Scaglioni, M, Scalfi, C, Scamardella, Am, Scandale, G, Scandone, L, Scannavini, G, Scarati, R, Scardi, A, Scarpa, Fm, Scazzi, P, Schifone, A, Schirosa, G, Scigliano, G, Scilla, A, Sciortino, M, Scolaro, G, Scollo, E, Scorretti, G, Sellitti, R, Selmo, A, Selvaggio, G, Sempio, A, Seren, F, Serio, L, Serra, C, Serra, L, Siciliano, D, Sideri, A, Sighele, M, Signore, R, Siliberto, F, Silvestro, M, Simioni, G, Simmini, G, Simonato, L, Sinchetto, F, Sizzano, E, Smajato, G, Smaldone, M, Sola, G, Sordillo, L, Sovran, Cs, Spagnul, P, Spanò, F, Sproviero, S, Squintani, A, Stella, L, Stilo, V, Stocchiero, B, Stornello, Mc, Stracka, G, Strada, S, Stranieri, G, Stucci, N, Stufano, N, Suppa, A, Susca, Vg, Sutti, M, Taddei, M, Tagliabue, E, Tagliente, G, Talato, F, Talerico, P, Talia, R, Taranto, R, Tartaglia, M, Tauro, N, Tedesco, A, Tieri, P, Tirelli, M, Tocci, L, Todesco, P, Tognolo, M, Tomba, A, Tonello, P, Tonon, R, Toscano, L, Tosi, A, Tosi, G, Toso, S, Travaglio, P, Tremul, L, Tresso, C, Triacchini, P, Triggiano, L, Trigilio, A, Trimeloni, J, Tripicchio, G, Tritto, Gs, Trono, F, Trotta, E, Trotta, G, Tubertini, A, Turri, C, Turri, L, Tuttolani, Mp, Urago, M, Ursini, G, Valcanover, F, Valente, L, Valenti, M, Valentini, F, Vallone, G, Valz, P, Valzano, L, Vanin, V, Vatteroni, M, Vegetti, L, Vendrame, D, Veramonti, I, Veronelli, G, Vesco, A, Vicariotto, G, Vignale, G, Villa, Pl, Vinciguerra, R, Visco, A, Visentin, G, Visonà, E, Vitali, E, Vitali, S, Vitti, F, Volpone, Da, Zambon, N, Zammarrelli, A, Zanaboni, A, Zane, D, Zanetti, B, Zanibellato, R, Zappetti, M, Zappone, P, Zerilli, G, Zirino, V, Zoccali, R, Zuin, F, Altomonte, M, Anelli, N, Angiò, F, Annale, P, Antonacci, S, Anzilotta, R, Bano, F, Basadonna, O, Beduschi, L, Becagli, P, Bellotti, G, Blotta, C, Bruno, G, Cappuccini, A, Caramatti, S, Cariolato, Mp, Castellana, M, Castellani, L, Catania, R, Chielli, A, Chinellato, A, Ciaccia, A, Clerici, E, Cocci, A, Costanzo, G, D'Ercole, F, De Stefano, G, Decè, F, Di Cicco, N, Di Marco, A, Donati Sarti, C, Draghi, E, Dusi, G, Esposito, V, Ferraro, L, Ferretti, A, Ferri, E, Foggetti, L, Foglia, A, Fonzi, E, Frau, G, Fuoco, Mr, Furci, G, Gallo, L, Garra, V, Giannini, A, Gris, A, Iacovino, R, Interrigi, R, Joppi, R, Laner, B, La Fortezza, G, La Padula, A, Lista, Mr, Lupi, G, Maffei, D, Maggioni, G, Magnani, L, Marrazzo, E, Marcon, L, Marinò, V, Maroni, A, Martinelli, C, Mastandrea, E, Mastropierro, F, Meo, At, Mero, P, Minesso, E, Moschetta, V, Mosele, E, Nanni, C, Negretti, A, Nisticò, C, Orsini, A, Osti, M, Pacilli, Mc, Pennestre, C, Picerno, G, Piol, K, Pivano, L, Pizzuti, E, Poggi, L, Poidomani, I, Pozzetto, M, Presti, Ml, Ravani, R, Recalenda, V, Romagnuolo, F, Rossignoli, S, Rossin, E, Sabatella, C, Sacco, F, Sanità, F, Sansone, E, Servadei, F, Sisto, Mt, Sorio, A, Sorrentino, A, Spinelli, E, Spolaor, A, Squillacioti, A, Stella, P, Talerico, A, Todisco, C, Vadino, M, and Zuliani, C.

Subjects
Male, medicine.medical_specialty, General Practice, Kaplan-Meier Estimate, Placebo, Double-Blind Method, Risk Factors, Internal medicine, Fatty Acids, Omega-3, Clinical endpoint, medicine, Humans, Myocardial infarction, Treatment Failure, Aged, Proportional Hazards Models, chemistry.chemical_classification, Omega-3, business.industry, Proportional hazards model, Medicine (all), Hazard ratio, Fatty Acids, General Medicine, Middle Aged, medicine.disease, Hospitalization, Primary Prevention, chemistry, Cardiovascular Diseases, Heart failure, Cohort, Female, business, Polyunsaturated fatty acid
Abstract

Background Trials have shown a beneficial effect of n-3 polyunsaturated fatty acids in patients with a previous myocardial infarction or heart failure. We evaluated the potential benefit of such therapy in patients with multiple cardiovascular risk factors or atherosclerotic vascular disease who had not had a myocardial infarction. Methods In this double-blind, placebo-controlled clinical trial, we enrolled a cohort of patients who were followed by a network of 860 general practitioners in Italy. Eligible patients were men and women with multiple cardiovascular risk factors or atherosclerotic vascular disease but not myocardial infarction. Patients were randomly assigned to n-3 fatty acids (1 g daily) or placebo (olive oil). The initially specified primary end point was the cumulative rate of death, nonfatal myocardial infarction, and nonfatal stroke. At 1 year, after the event rate was found to be lower than anticipated, the primary end point was revised as time to death from cardiovascular causes or admission to the hospital for cardiovascular causes. Results Of the 12,513 patients enrolled, 6244 were randomly assigned to n-3 fatty acids and 6269 to placebo. With a median of 5 years of follow-up, the primary end point occurred in 1478 of 12,505 patients included in the analysis (11.8%), of whom 733 of 6239 (11.7%) had received n-3 fatty acids and 745 of 6266 (11.9%) had received placebo (adjusted hazard ratio with n-3 fatty acids, 0.97; 95% confidence interval, 0.88 to 1.08; P=0.58). The same null results were observed for all the secondary end points. Conclusions In a large general-practice cohort of patients with multiple cardiovascular risk factors, daily treatment with n-3 fatty acids did not reduce cardiovascular mortality and morbidity. (Funded by Societa Prodotti Antibiotici and others; ClinicalTrials.gov number, NCT00317707.).

Published
2013

6. CONGENITAL FETAL AND NEONATAL VISCERAL CHYLOUS EFFUSIONS: NEONATAL CHYLOTHORAX AND CHYLOUS ASCITES REVISITED. A MULTICENTER RETROSPECTIVE STUDY

Author

Bellini, C., Ergaz, Z., Radicioni, M., Forner-Cordero, I., Witte, M., Perotti, G., Figar, T., Tubaldi, L., Camerini, P., Bar-Oz, B., Yatsiv, I., Arad, I., Traverso, F., Bellini, T., FRANCESCO MARIA BOCCARDO, Campisi, C., Dalmonte, P., Vercellino, N., Manikanti, S., and Bonioli, E.

Subjects
Male, congenital/diagnosis/therapy, Infant, Newborn, Infant, Newborn, Octreotide, Chylothorax, therapeutic use, congenital/diagnosis/therapy, Chylous Ascites, congenital/diagnosis/therapy, Female, Infant, Newborn, Male, Octreotide, therapeutic use, Retrospective Studies, Triglycerides, administration /&/ dosage, ans, ans, Humans, Female, administration /&/ dosage, Chylous Ascites, Triglycerides, Retrospective Studies
Abstract

This retrospective study was carried out at eight Neonatal Intensive Care Units (NICU) Centers worldwide on 33 newborns presenting at birth with pleural, pericardial, or abdominal chylous effusions. Diagnosis of chylous effusion is based on findings of fluid with a milk-like appearance, a concentration of triglycerides in pleural effusion1.1 mmol/l, and a total cell count1,000 cells/ml with a predominance of80% lymphocytes. Thirty-three newborns met the inclusion criteria and were studied. Six subjects who presented at birth with fetal effusion were treated by in-utero pleuro-amniotic shunt. Five of these patients are alive at follow-up. At birth, pleural drainage was performed in 29/33 patients and abdominal drainage was carried out in 3/33. Total parenteral nutrition (TPN) was given to 32/33 patients; 19/23 patients were fed a medium-chain triglycerides (MCT). No adverse effects were observed. Eight patients were treated with Octreotide at dosages ranging from 1 to 7 mcg/kg/hour for 8 to 35 days. All patients showed decreased chylous production. Two patients were treated by pleurodesis. Twenty-two babies are alive after at least 6 months follow-up, 9/33 are deceased, and 2 were lost to follow-up. Clinical conditions of survivors are basically good except for lung involvement [chronic lung disease (CLD) or lung lymphangiectasia] and lymphedema. All patients were using a MCT diet at follow-up with good control of chylous effusion. Visceral chylous effusions of the fetus and neonate are rare disorders, and there currently is only partial agreement on decision-making strategies. We suggest the need for an international prospective trial in an effort to establish the efficacy and effectiveness of diagnostic and therapeutic options described in this article.

Published
2012

7. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome

Author

Bonioli E, Antonella Palmieri, Bertola A, and Bellini C

Subjects
Chromosome Aberrations, Infant, Newborn, Infant, Chromosome Disorders, Genes, Recessive, Syndrome, Pedigree, Consanguinity, Phenotype, Child, Preschool, Intellectual Disability, Humans, Abnormalities, Multiple, Female
Abstract

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Published
1995

8. [Sodium-modulating hormones and the pressor response to sodium chloride in essential arterial hypertension]

Author

Claudio Ferri, Di Francesco L, Baldoncini R, Bellini C, Desideri G, Carlomagno A, De Siati L, Santucci A, and Balsano F

Subjects
Adult, Male, Analysis of Variance, Blood Pressure, Sodium, Dietary, Middle Aged, Prognosis, Hypertension, Renin, Humans, Regression Analysis, Female, Kallikreins, Natriuretic Agents, Atrial Natriuretic Factor, Biomarkers
Abstract

Some predictive markers for NaCl sensitivity, related to the red blood cell membrane or to circulating proteins, have already been described in human essential hypertension. The present study was planned to investigate whether or not some hormones produced by the kidney or acting at the kidney level could be used as new markers for NaCl sensitivity. The study was conducted in 28 not previously treated outpatients affected by uncomplicated mild to moderate essential hypertension. After 15 days on a normal NaCl diet, plasma renin activity (PRA), plasma atrial natriuretic peptide (ANP), and the urinary excretion of active kallikrein were evaluated. The sensitivity of blood pressure to changes in NaCl intake was then assessed in all patients, according to a randomized double blind cross-over design. Each patient was assigned to a high (240 mmol of NaCl/day for 15 days) or low (40 mmol of NaCl/day for 15 days) NaCl intake. During the assessment of NaCl sensitivity, the double blindness was achieved by the use of capsules containing either NaCl or placebo. Fifteen patients (11 males and 4 females) resulted as NaCl-sensitive, while 13 patients (8 males and 5 females) were classified as NaCl-resistant. Our results indicate that PRA levels were significantly lower in the NaCl-sensitive group than in the NaCl-resistant one (0.108 +/- 0.05 ng/L/s vs 0.247 +/- 0.16 ng/L/s, p0.007), in the presence of raised levels of plasma ANP in NaCl-sensitive hypertensives (18.08 +/- 4.61 fmol/mL vs 12.45 +/- 3.77 fmol/mL, p0.006).(ABSTRACT TRUNCATED AT 250 WORDS)

Published
1993

9. [Oral administration of extracted kallikrein to patients with essential arterial hypertension]

Author

Bellini C, Carlomagno A, Piccoli A, Di Francesco L, Claudio Ferri, Rl, Luparini, Germanò G, Giarrizzo C, Santucci A, and Balsano F

Subjects
Adult, Male, Hypertension, Administration, Oral, Drug Evaluation, Humans, Blood Pressure, Female, Kallikreins, Middle Aged, Diuresis
Abstract

Reduced kallikrein excretion has been demonstrated in essential hypertension, suggesting an impairment of the renal kallikrein-kinin system. Therefore, we evaluated the efficacy and safety of oral kallikrein administration (glandular kallikrein derived form porcine pancreas) in 20 essential hypertensives (14 males and 6 females) aged between 34 and 62 years. Kallikrein was administered (150 U.I. three times daily) over a period of eight days, under normal sodium intake (120 mEq of Na+/day). After the kallikrein administration period, urinary kallikrein resulted increased (from 0.9 +/- 0.4 U/24h, normal value greater than 1.2 U/24h, to 1.6 +/- 1 U/24h; p less than 0.05). Blood pressure decreased (systolic: from 154.6 +/- 13.8 mmHg to 140.3 +/- 12.5 mmHg; p less than 0.01--diastolic: from 92.5 +/- 1.5 mmHg to 86 +/- 3.9 mmHg; p less than 0.025), while urinary excretion of sodium (from 96.7 +/- 16 mEq/24h to 119.1 +/- 32.2 mEq/24h; p less than 0.05) and potassium (from 36.7 +/- 11 mEq/24h to 43.5 +/- 12.8 mEq/24h; p less than 0.05) increased after kallikrein administration. We observed only a transient episode of gastric pain. In conclusion, kallikrein administration has a mild hypotensive effect in hypertensive patients, and is generally well tolerated. The antihypertensive action is probably due to the natriuretic effect of kallikrein.

Published
1991

10. [The efficacy and tolerance of orally administered kallikrein in patients with essential arterial hypertension]

Author

Bellini C, Carlomagno A, Piccoli A, Di Francesco L, Torregrossa G, Leonetti Luparini R, Germanò G, Giarrizzo C, Claudio Ferri, and Santucci A

Subjects
Adult, Male, Hypertension, Administration, Oral, Drug Evaluation, Humans, Blood Pressure, Female, Kallikreins, Drug Tolerance, Middle Aged, Diuresis
Abstract

Since the reduced kallikrein excretion demonstrated in essential hypertension suggested the possibility of an impairment in the renal kallikrein-kinin system, we decided to evaluate the efficacy and safety of oral kallikrein administration (glandular kallikrein derived from porcine pancreas) in 30 essential hypertensive subjects (21 males, 9 females, age range 34-62 years). Twenty subjects took 150 IU kallikrein t.i.d. for eight days; during this period their sodium intake remained normal (120 mEq Na+/die). Ten subjects took placebo. After the trial period, urinary kallikrein in the active group increased from 0.9 +/- 0.4 U/24 h (normal value greater than 1.2 U/24 h) to 1.6 +/- 1 U/24 h (p less than 0.05); systolic and diastolic blood pressure decreased respectively from 154.6 +/- 13.8 mmHg to 140.3 +/- 12.5 mmHg (p less than 0.01) and from 92.5 +/- 1.5 mmHg to 86 +/- 3.9 mmHg (p less than 0.025); urinary sodium and potassium excretion increased respectively from 96.7 +/- 17 mEq/24 h to 119.1 +/- 32.3 mEq/24 h (p less than 0.05) and from 36.7 +/- 11 mEq/24 h to 43.5 +/- 12.8 mEq/24 h (p less than 0.05). One patient in the kallikrein group suffered a transient episode of gastric pain. No modifications of the parameters evaluated were observed in the placebo group. We conclude that kallikrein has a mild hypotensive effect in hypertensive subjects and is generally well-tolerated. Its antihypertensive effect is probably due to the sodiuretic action of the substance.

Published
1991

11. [Changes in the atrial natriuretic factor and the renin-angiotensin-aldosterone axis induced by maximum exertion in subjects with a recent myocardial infarct]

Author

Morelli S, De Marzio P, Claudio Ferri, Cardoni F, Guido V, Suppa M, Bellini C, Santucci A, Aguglia F, and Balsano F

Subjects
Adult, Male, Time Factors, Physical Exertion, Myocardial Infarction, Coronary Disease, Middle Aged, Renin-Angiotensin System, Renin, Exercise Test, Humans, Female, Aldosterone, Atrial Natriuretic Factor, Aged
Abstract

To examine the effect of exercise-induced myocardial ischemia (EIMI) on atrial natriuretic factor (ANF), plasma renin activity (PRA) and aldosterone (PA), a maximal exercise test in 12 patients with recent acute myocardial infarction (AM) was performed. ANF, PRA and PA were measured by radioimmunoassay at baseline, peak-exercise and at 15 min after recovery. Four patients developed EIMI (group I) and 8 patients did not (group II). ANF increased in all patients from baseline to peak-exercise (27.7 +/- 9.5 pg/mL vs 92.7 +/- 26.7 pg/mL, p less than 0.0005) and it was still elevated 15 min after recovery. Baseline ANF was similar in both groups while at peak-exercise it was higher in group. I than in group II (112 +/- 15 pg/mL vs 82 +/- 26 pg/mL p less than 0.05). After 15 min of recovery, ANF was higher in group I than in group II (67 +/- 20 pg/mL vs 32 +/- 10 pg/mL, p less than 0.01), resulting higher than at baseline only in group I (p less than 0.05). PRA and PA also increased during exercise but their values rose more slowly and were the same in both groups. Thus, ANF, PRA and PA increase during exercise in patients after AMI, and EIMI is associated with higher ANF plasma levels.

Published
1991

12. Are there lymphatic vessels in the placenta?

Author

Bellini, C., Rutigliani, M., FRANCESCO MARIA BOCCARDO, Campisi, C., Bellini, T., Bonioli, E., and Fulcheri, E.

Subjects
Murine-Derived, anatomy /&/ histology/blood supply/chemistry, Membrane Glycoproteins, Antibodies, Monoclonal, Murine-Derived, Biological Markers, analysis, Female, Humans, Immunohistochemistry, Lymphatic Vessels, anatomy /&/ histology/chemistry, Membrane Glycoproteins, analysis, Placenta, anatomy /&/ histology/blood supply/chemistry, Placentation, Pregnancy, analysis, Placenta, Immunohistochemistry, Placentation, Antibodies, Monoclonal, Murine-Derived, Pregnancy, Humans, Biological Markers, Female, anatomy /&/ histology/chemistry, Biomarkers, Lymphatic Vessels
Abstract

The role of lymphatics in placentation has been scantily studied and the true existence of placental lymphatics is under debate. Numerous blood and lymphatic-lineage molecule markers are now available and they are expressed in human placental tissue. D2-40 expression at the placental stromal level seems to indicate that network-forming, podoplanin-expressing cells may act as a reticular-lymphatic-like conductive network. This exciting area at the intersection of perinatology and lymphology needs further investigation.

13. Early fetal hydropic changes are associated with moderate dilatation of the brain ventricular system: A clue to a possible link between cervical lymphatic engorgement and ventricular dilatation?

Author

Dario Paladini, Donarini, G., Conti, A., Angelis, L. Costanza, Witte, M. H., Genesio, R., Bernas, M., Bellini, T., Boccardo, F., Ramenghi, L. A., and Bellini, C.

Subjects
Chromosome Aberrations, hydrops, fetus, cystic hygroma, nuchal translucency, brain lymphatic, cerebrospinal fluid, ultrasound, Hydrops Fetalis, Abnormal Karyotype, Hematology, Cerebral Ventricles, Diagnosis, Differential, Pregnancy, Humans, Immunology and Allergy, Female, Genetic Predisposition to Disease, Disease Susceptibility, Lymphangioma, Cystic, Tomography, X-Ray Computed, Dilatation, Pathologic, Lymphatic Vessels
Abstract

The aim of this study is to assess whether early cervical lymphatic obstruction is associated with a sonographically detectable dilatation of the ventricular system in the 1st trimester of pregnancy. In particular, the objective is to assess whether fetuses with non-immune hydrops fetalis (NIHF), cystic hygroma, or enlarged nuchal translucency (NT) have a greater atrial width/biparietal diameter (AW/BPD) ratio than normal at time of the combined first trimester screening scan. This retrospective study included 96 first trimester fetuses (33 normal and 63 with various degree of cervical lymphatic engorgement). Inclusion criteria were CRL in the 45-84 mm range and availability of one or more three-dimensional volume datasets of the fetal head, acquired from the BPD plane. Each three-dimensional volume dataset was opened and multiplanar correlation employed to align the three orthogonal planes. The ratio between the atrial width and the BPD (AW/BPD ratio) was used to evaluate the possible presence of increased amount of cerebrospinal fluid. Abnormal cases were placed into 4 categories: 1)enlarged non-septated NT 2.5-3.9 mm, no hydrops; 2) grossly enlarged non-septated NT/ edema >3.9 mm; 3) cystic hygroma and/or NIHF; 4) major anomalies with NT

14. Surgical prevention and treatment of lymphedema after lymph node dissection in patients with cutaneous melanoma

Author

Boccardo, F., Cian, F., Campisi, C. C., Molinari, L., stefano spinaci, Dessalvi, S., Talamo, G., Campisi, C., Villa, G., Bellini, C., Parodi, A., and Santi, P. L.

Subjects
Adult, Male, Skin Neoplasms, Lymphedema, Melanoma, Anastomosis, Surgical, Middle Aged, Groin, Prognosis, Young Adult, Postoperative Complications, Lymphatic Metastasis, Humans, Lymph Node Excision, Female, Lymphoscintigraphy, Aged, Follow-Up Studies, Lymphatic Vessels, Retrospective Studies
Abstract

Despite the development of minimal access dissection techniques, use of superficial groin dissection alone, and other recommendations to reduce morbidity in melanoma treatment, the incidence of lymphedema is still significant. The purpose of the current study was to assess the efficacy of microsurgical methods to limit the morbidity of inguinal lymphadenectomy. We conducted a retrospective review of patients who underwent groin dissection for melanoma treatment from February 2006 to April 2009. A total of 59 melanoma patients with positive groin lymph nodes comprised 18 patients (T-group) with melanoma in the trunk and 41 patients (E-group) who had melanoma in an extremity and currently have lymphedema. The T-group patients underwent primary prevention of lymphedema with microsurgical lymphatic-venous anastomoses (LVA) performed simultaneously with groin dissection. The E-group patients underwent LVA to treat the secondary lymphedema after an accurate oncological and lymphological assessment. Limb volume measurements and lymphoscintigraphy were performed pre- and postoperatively to assess short and long term outcome. No lymphedema occurred after microsurgical primary preventive approach in the T- group. Significant (average 80% reduction of pre-op excess volume) reduction of lymphedema resulted after microsurgical treatment for secondary leg lymphedema. Post-operative lymphoscintigraphy in 35 patients demonstrated patency of microsurgical anastomoses in all cases with an average follow-up of 42 months. Study results demonstrate that microsurgical LVA primary prevention prevented lymphedema after inguinal lymphadenectomy in the T-group patients. In addition, lymphatic-venous multiple anastomoses proved to be a successful treatment for clinical lymphedema with particular success if treated at the early stages.

15. Back-and-forth endoscopic septoplasty: analysis of the technique and outcomes

Author

Mario Bussi, C. Bellini, S. Toma, Matteo Trimarchi, Trimarchi, Matteo, Bellini, C, Toma, S, and Bussi, M.

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Perforation (oil well), Nasal Surgical Procedures, Young Adult, Hematoma, Postoperative Complications, medicine, Nasal septum, Immunology and Allergy, Humans, Abscess, Aged, Nasal Septum, Hypesthesia, medicine.diagnostic_test, business.industry, Endoscopy, Middle Aged, medicine.disease, Surgery, Septoplasty, medicine.anatomical_structure, Treatment Outcome, Otorhinolaryngology, Tears, Female, Nasal Obstruction, business
Abstract

Background: To describe our clinical experience in 218 consecutive patients undergoing endoscopic back-and-forth septoplasty (EBFS), examining surgical indications, technique, and follow-up. Methods: From January 2005 to November 2008, 218 patients underwent EBFS at the Department of Otorhinolaryngology, San Raffaele Hospital, Milan, Italy. The indication for EBFS in this series was nasal airway obstruction (NAO). Patients were studied with nasal rigid endoscopy and in some cases computed tomography (CT)was used to exclude rhinosinusitis. The most common concomitant diagnoses included allergic rhinitis and turbinate hypertrophy. EBFS facilitates the interruption of perichondrial and periosteal bridges, which are more represented in the anterior portion of the septum between the caudal quadrangular cartilage and the vomeropremaxillary crest. Septal splints were positioned. No nasal packing was required. Results:No cases required conversion to a traditional headlight approach, and no intraoperative complications were encountered. Intraoperative mucosal microlacerations occurred in 77.98% of cases; suturing was required in only 8.25%of cases.Of 218 patients, 74.77% experienced resolution of NAO, while 16.06% experienced only improvement; 9.17% noted the persistence of symptoms. Complications included transient dental pain/hypesthesia (6.88%), septal hematoma (5.04%), synechiae formation (2.29%), epistaxis (1.83%), septal perforation (1.83%), cheek swelling (0.45%), and septal abscess (0.45%). Conclusion: EBFS as a variation of endoscopic septoplasty (ES) represents a viable procedure with good outcomes and a low rate of complications. The technique allows lysis of tissue fibers while preserving the integrity of mucosa at the critical area using less force and reduces the probability of mucosal tears, based on embryologic knowledge of anatomical dissection.

Published
2011

16. Anastomosis of nasal mucosal and lacrimal sac flaps in endoscopic dacryocystorhinostomy

Author

M. Forti, A. Giordano Resti, Mario Bussi, C. Bellini, Matteo Trimarchi, Trimarchi, Matteo, Resti, Ag, Bellini, C, Forti, M, Bussi, M., Giordanoresti, A, and Forcellini, D

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Dacryocystorhinostomy, Anastomosis, Surgical Flaps, Cohort Studies, Dacryocystitis, Young Adult, Lacrimal Duct Obstruction, medicine, Humans, Child, Nose, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Anastomosis, Surgical, Endoscopy, General Medicine, Middle Aged, medicine.disease, eye diseases, Lacrimal sac, Surgery, Ostium, Nasal Mucosa, medicine.anatomical_structure, Treatment Outcome, Otorhinolaryngology, Child, Preschool, Nasolacrimal canal, Female, business, Nasolacrimal Duct
Abstract

Endoscopic dacryocystorhinostomy (DCR) is a well-established alternative to external approaches in the treatment of nasolacrimal canal obstruction. From July 2004 to December 2008, 92 endoscopic DCRs were performed on 88 patients at the Department of Otorhinolaryngology, San Raffaele Hospital, Milan. All patients were affected by chronic dacryocystitis with epiphora. Preoperative work-up included Jones tests, lacrimal pathways irrigation, nasal endoscopy, and imaging evaluation by computed tomography. The technique involved anastomosis of nasal mucosal, lacrimal sac flaps and a large bony ostium. A silicone tube was inserted in all patients that remained for a period of 3 months. The first endoscopic intervention was successful in 91.30% of patients. After a second revision endoscopic DCR, the overall success rate raised to 95.65%. Anastomosis of nasal mucosal between lacrimal sac flaps plays a key role in endoscopic DCR with a high success rate both in primary nasolacrimal obstructions and in revision cases.

Published
2009

17. Migrainous Vertigo: Results of Caloric Testing and Stabilometric Findings

Author

Luca Bernasconi, C. Bellini, Giancarlo Comi, Bruno Colombo, Roberto Teggi, Mario Bussi, Teggi, R, Colombo, B, Bernasconi, L, Bellini, C, Comi, Giancarlo, and Bussi, Mario

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, genetic structures, Adolescent, Eye Movements, Migraine Disorders, Nystagmus, Neurological disorder, Audiology, Nystagmus, Pathologic, Young Adult, Vertigo, otorhinolaryngologic diseases, Caloric Tests, Pressure, Medicine, Videonystagmography, Humans, Cerebellar disorder, Postural Balance, Retrospective Studies, Vestibular system, Chi-Square Distribution, biology, medicine.diagnostic_test, business.industry, Posturography, Middle Aged, medicine.disease, biology.organism_classification, Neurology, Migraine, Head Movements, Physical therapy, Female, sense organs, Neurology (clinical), medicine.symptom, business
Abstract

Background.—Association between migraine and vertigo has been widely studied during the last years. A central or peripheral vestibular damage may occur in patients with migrainous vertigo. Despite much evidence, at present the International Headache Society classification does not include a specific category for migrainous vertigo. Objectives.—To assess the prevalence of central and peripheral vestibular disorders and postural abnormalities in patients diagnosed as affected by definite migrainous vertigo according to Neuhauser. Methods.—Thirty patients with migraine and acute vertigo lasting from minutes to hours underwent a full otoneurological screening for spontaneous, positional, and positioning nystagmus with head-shaking and head-thrust (Halmagyi) tests, an audiometric examination, and videonystagmography with bithermal stimulation according to Freyss. Videonystagmographic findings were compared with those of 15 migraineurs without lifetime vertigo (group M). Next day, a static posturography was performed; posturographic results have been compared with those of a second control group of 30 healthy patients matched for age and sex (group C). Results.—In total, 14 subjects with migrainous vertigo showed otovestibular disorders; 6 subjects showed impaired vestibulo-oculomotor reflexes (20%). Five more patients had bilateral increased responses (16.6%). Five patients showed signs of central brainstem or cerebellar disorders for altered pursuit or saccades or positional direction changing nystagmus. Stabilometric results returned higher values of Length and Surface above all when testing was performed in eyes closed conditions compared with the normal control group. The subgroup of 14 subjects with migrainous vertigo and vestibular abnormalities performed poorly in stabilometric exams and seemed to rely more on visual cues in balance control than the subgroup of 16 subjects with migrainous vertigo but without abnormalities. Discussion.—Our results indicate that vestibular functional damage may occur in all vestibular pathways; central and peripheral signs are equally represented. Our data are not inconsistent with the hypothesis that a vestibulo-spinal dysfunction is the causal factor for the posturographic results. Moreover, the Visual Romberg Index is significant for increased visual cue dependence in migraineurs.

Published
2009

18. Transmeatal low-level laser therapy for chronic tinnitus with cochlear dysfunction

Author

Roberto Teggi, C. Bellini, Lucia Oriella Piccioni, Mario Bussi, Francesca Palonta, Teggi, R., Bellini, C., Piccioni, L. O., Palonta, F., and Bussi, Mario

Subjects
Adult, Male, medicine.medical_specialty, Physiology, Cochlear Diseases, medicine.medical_treatment, Loudness Perception, Chronic tinnitus, Audiology, Severity of Illness Index, law.invention, Speech and Hearing, Tinnitus, Randomized controlled trial, Laser therapy, law, Surveys and Questionnaires, Severity of illness, otorhinolaryngologic diseases, medicine, Humans, Prospective Studies, Low-Level Light Therapy, Prospective cohort study, Low level laser therapy, medicine.diagnostic_test, business.industry, Middle Aged, Sensory Systems, Treatment Outcome, Otorhinolaryngology, Audiometry, Pure-Tone, Female, medicine.symptom, Audiometry, business, Perceptual Masking, Follow-Up Studies, Psychoacoustics
Abstract

Objectives: To establish the efficacy of low-level laser therapy for tinnitus. Methods: We performed a prospective, randomized double-blind study on 60 outpatients with tinnitus presenting sensorineural hearing loss in the affected ear. They were randomly divided into two groups, the first performing active laser therapy 20 min a day for 3 months with a 650-nm, 5-mW soft laser (group L), the second using a dummy device which duplicated all aspects of active laser therapy except for the activation of the laser beam (group C). One subject in both groups dropped out due to an increase in tinnitus loudness. Two more patients in each group ceased to comply with the protocol due to familiar problems. Results: The Tinnitus Handicap Inventory (THI) was considered the main outcome measure; no statistical difference was detected between the 2 groups in the THI total score (p = 0.97), and its functional (p = 0.89), emotional (p = 0.89) and catastrophic (p = 0.89) subscales. Moreover, a visual analog scale for self-perceived loudness of the tinnitus showed no difference between the groups (p = 0.69). Regarding psychoacoustic parameters, the minimum masking level showed no difference (p = 0.42), while loudness expressed in sensation level exhibited lower values in group L (p = 0.0127). Group L subjects also presented a decreased rate of hyperacusis (p = 0.02). No changes were detected in the audiometric threshold in both groups. Conclusions: Soft laser therapy demonstrated no efficacy as a therapeutic measure for tinnitus.

Published
2008

19. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

Author

S. Cavani, S. Rossi, Alessandra Ferlini, M. Cecconi, A. Sensi, Leda Dalprà, Elisa Savin, Maria Grazia Pomponi, Marina Grasso, Roberta Pietrobono, G. Neri, S. Gallone, Elisa Calzolari, Antonella Fogli, Maurizio Genuardi, Paolo Simi, F. Dagna-Bricarelli, Elena Sala, Francesca Gualandi, Emanuela Martinoli, F. Baldinotti, Nicoletta Villa, C. Bellini, Sensi, A, Cavani, S, Villa, N, Pomponi, M, Fogli, A, Gualandi, F, Grasso, M, Sala, E, Pietrobono, R, Baldinotti, F, Savin, E, Ferlini, A, Cecconi, M, Rossi, S, Gallone, S, Bellini, C, Neri, G, Martinoli, E, Simi, P, Dalpra', L, Genuardi, M, Dagna Bricarelli, F, and Calzolari, E

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Offspring, Robertsonian translocation, Chromosomal translocation, Prenatal diagnosis, Gestational Age, Biology, medicine.disease_cause, DIAGNOSIS, Settore MED/03 - GENETICA MEDICA, Translocation, Genetic, Pregnancy, Risk Factors, SEARCH, Prenatal Diagnosis, medicine, Birth Weight, Humans, SEGREGATION, Risk factor, SPERMATOZOA, Genetics (clinical), Genetics, CHROMOSOME-14, medicine.diagnostic_test, Obstetrics, Infant, Newborn, Obstetrics and Gynecology, Middle Aged, Uniparental Disomy, medicine.disease, CARRIERS, Uniparental disomy, Confidence interval, SPERM, MAP, HUMANS, Italy, Amniocentesis, Premature Birth, Female, uniparental disomy, prenatal diagnosis, Maternal Age
Abstract

Objectives The risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs) has been estimated only on limited empirical data. The aim of the study was to verify the estimate of the general risk, to get narrower confidence intervals by cumulating the data and to obtain risk estimates for specific translocation types. Methods We tested for UPD 160 prenatal specimens referred to the participant centers after the cytogenetic finding of NHRT. Results One case of upd(14)mat was found, associated with a 45,XX,der(14;22)mat fetal karyotype. The general empirical risk of UPD occurrence in NHRT carrier fetuses, corrected for the actual number of chromosomes analyzed, was 0.76% (95% CI 0.02–4.25%). Cumulative data with previous studies gives a general risk of UPD associated with NHRT of 0.80% (95% CI 0.17–2.34%). The UPD risk for the specific NHRT der(13;14) did not significantly differ from that of the other NHRTs taken together. Conclusion The present survey confirms the previously estimated risk of occurrence of UPD in offspring of NHRT carriers as a low, but not negligible risk, worth being investigated in prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.

Published
2004

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