نتایج جستجو برای: pleuropulmonary blastoma

تعداد نتایج: 660  

2017
A Aissa

Amoebiasis is the third leading cause of death due to a parasitic infection in the world after malaria and schistosomiasis [1]. The pleuropulmonary localization is the second most common extra-intestinal expression after liver damage [1]. The direct pulmonary Entamoeba histolytica infestation is less common than secondary form called “neighborhood” reaction [2]. The authors propose to report a ...

Journal: :JAMA 2011
Thomas Rio Frio Amin Bahubeshi Chryssa Kanellopoulou Nancy Hamel Marek Niedziela Nelly Sabbaghian Carly Pouchet Lucy Gilbert Paul K O'Brien Kim Serfas Peter Broderick Richard S Houlston Fabienne Lesueur Elena Bonora Stefan Muljo R Neil Schimke Dorothée Bouron-Dal Soglio Jocelyne Arseneau Kris Ann Schultz John R Priest Van-Hung Nguyen H Rubén Harach David M Livingston William D Foulkes Marc Tischkowitz

CONTEXT Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that cod...

Journal: :Journal of medical genetics 2011
Ingrid Slade Chiara Bacchelli Helen Davies Anne Murray Fatemeh Abbaszadeh Sandra Hanks Rita Barfoot Amos Burke Julia Chisholm Martin Hewitt Helen Jenkinson Derek King Bruce Morland Barry Pizer Katrina Prescott Anand Saggar Lucy Side Heidi Traunecker Sucheta Vaidya Paul Ward P Andrew Futreal Gordan Vujanic Andrew G Nicholson Neil Sebire Clare Turnbull John R Priest Kathryn Pritchard-Jones Richard Houlston Charles Stiller Michael R Stratton Jenny Douglas Nazneen Rahman

BACKGROUND Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). AIM To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. METHODS AND RESULTS The authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Cons...

Journal: :Jornal de pediatria 2012
Verónica Giubergia Marcelo Barrenechea Mónica Siminovich Hebe Gonzalez Pena Patricia Murtagh

OBJECTIVE Congenital cystic adenomatoid malformation (CCAM) is the most common surgically resected pulmonary malformation in children. This retrospective study was undertaken to present the experience of 172 CCAM cases in a pediatric hospital. METHODS Published series with a small number of patients reports details of lesions, progress and management. As this study addresses clinical characte...

Journal: :Respiration; international review of thoracic diseases 2010
Frederico H S Oliveira Daniele C Cataneo Raul L Ruiz Antonio J M Cataneo

BACKGROUND Persistent air leak after pulmonary resection is a difficult complication for thoracic surgeons to manage. OBJECTIVES To show the results of our experience treating persistent pleuropulmonary air leak with autologous blood and review the literature on this specific method of treatment. METHODS Retrospective study of patients with persistent aerial pleuropulmonary fistula treated ...

2014
Maria Rossing Anne-Marie Gerdes Anders Juul Catherine Rechnitzer Martin Rudnicki Finn C Nielsen Thomas vO Hansen

INTRODUCTION Germ-line mutations in the micro-ribonucleic acid processing gene DICER1 have been shown to predispose to a subset of benign tumors susceptible to malignant transformation, including ovarian Sertoli-Leydig cell tumor, nontoxic multinodular goiter, multilocular cystic nephroma and pleuropulmonary blastoma, which can occur in children and young adults. This may be due to reduced Dcr-...

Journal: :The New England journal of medicine 2012
Alireza Heravi-Moussavi Michael S Anglesio S-W Grace Cheng Janine Senz Winnie Yang Leah Prentice Anthony P Fejes Christine Chow Alicia Tone Steve E Kalloger Nancy Hamel Andrew Roth Gavin Ha Adrian N C Wan Sarah Maines-Bandiera Clara Salamanca Barbara Pasini Blaise A Clarke Anna F Lee Cheng-Han Lee Chengquan Zhao Robert H Young Samuel A Aparicio Poul H B Sorensen Michelle M M Woo Niki Boyd Steven J M Jones Martin Hirst Marco A Marra Blake Gilks Sohrab P Shah William D Foulkes Gregg B Morin David G Huntsman

BACKGROUND Germline truncating mutations in DICER1, an endoribonuclease in the RNase III family that is essential for processing microRNAs, have been observed in families with the pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk for nonepithelial ovarian tumors, notably sex cord-stromal tumors. METHODS We sequenced the whole transcriptomes or exomes ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Yekta Dowlati Arun V Ravindran Zindel V Segal Donna E Stewart Meir Steiner Jeffrey H Meyer

Medical research is moving toward prevention strategies during prodromal states. Postpartum blues (PPB) is often a prodromal state for postpartum depression (PPD), with severe PPB strongly associated with an elevated risk for PPD. The most common complication of childbearing, PPD has a prevalence of 13%, but there are no widespread prevention strategies, and no nutraceutical interventions have ...

Journal: :Respiration; international review of thoracic diseases 2012
Kostas N Syrigos Nikolaos Katirtzoglou Vasileia Ntomi Aikaterini Pierrakou Maria Chorti Grigorios Stratakos Ioannis Dannos Muhammad W Saif

A 62-year-old patient diagnosed with pulmonary blastoma with submandibular, scrotum and adrenal metastases was admitted to Sotiria General Hospital in Athens. No other such case has been published to date. The patient started receiving chemotherapy, but the scrotum metastasis grew rapidly and erupted. This led to sepsis despite surgical excision of infected and necrotic tissues and intravenous ...

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