Case Report Open Access Case Report: a Virilized Girl
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Germline Fumarate Hydratase Mutations in Patients with Ovarian Mucinous Cystadenoma
European Journal of Human Genetics (2006) 14, 880–883 & 2006 Nature Publishing Group All rights reserved 1018-4813/06 $30.00 www.nature.com/ejhg SHORT REPORT Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma Sanna K Ylisaukko-oja1, Cezary Cybulski2, Rainer Lehtonen1, Maija Kiuru1, Joanna Matyjasik2, Anna Szyman˜ska2, Jolanta Szyman˜ska-Pasternak2, Lars Dyrskjot3, Ralf Butzow4, Torben F Orntoft3, Virpi Launonen1, Jan Lubin˜ski2 and Lauri A Aaltonen*,1 1Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; 2International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; 3Department of Clinical Biochemistry, Aarhus University Hospital, Skejby, Denmark; 4Pathology and Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were analyzed for somatic FH mutations. Two patients diagnosed with ovarian mucinous cystadenoma (two out of 33, 6%) were found to be FH germline mutation carriers. One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC. -
Adnexal Masses in Pregnancy
A guide to management Mitchel S. Hoffman, MD Professor and Director, Division of Adnexal masses in pregnancy Gynecologic Oncology, Department of Obstetrics and Gynecology, Forego surgery in most cases until delivery—or until University of South Florida, Tampa, Fla Robyn A. Sayer, MD the risky fi rst trimester has passed Assistant Professor, Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, CASE 1 An enlarging cystic tumor 16 × 12 × 4 cm and determined that it University of South Florida, Tampa, Fla was a corpus luteum cyst. The authors report no fi nancial relationships relevant to this article. A 20-year-old gravida 3 para 1011 visits the emergency department with persistent right Presence of mass raises questions fl ank pain. Although ultrasonography (US) Despite the rarity of malignancy, the dis- shows a 21-week gestation, the patient has covery of an ovarian mass during pregnan- had no prenatal care. Imaging also reveals a® Dowdency prompts several Health important Media questions: right-sided ovarian tumor, 14 × 11 × 8 cm, How should the mass be assessed? How that is mainly cystic with some internal can the likelihood of malignancy be deter- echogenicity. CopyrightFor personalmined as quickly use and only effi ciently as pos- At 30 weeks’ gestation, a gynecologic sible, without jeopardy to the pregnancy? oncologist is consulted. Repeat US reveals When is surgical intervention warranted? the mass to be about 20 cm in diameter and And when can it be postponed? Specifi - cystic, without internal papillation. The pa- cally, is elective operative intervention for IN THIS ARTICLE tient’s CA-125 level is 12 U/mL. -
Rotana Alsaggaf, MS
Neoplasms and Factors Associated with Their Development in Patients Diagnosed with Myotonic Dystrophy Type I Item Type dissertation Authors Alsaggaf, Rotana Publication Date 2018 Abstract Background. Recent epidemiological studies have provided evidence that myotonic dystrophy type I (DM1) patients are at excess risk of cancer, but inconsistencies in reported cancer sites exist. The risk of benign tumors and contributing factors to tu... Keywords Cancer; Tumors; Cataract; Comorbidity; Diabetes Mellitus; Myotonic Dystrophy; Neoplasms; Thyroid Diseases Download date 07/10/2021 07:06:48 Link to Item http://hdl.handle.net/10713/7926 Rotana Alsaggaf, M.S. Pre-doctoral Fellow - Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, NIH PhD Candidate – Department of Epidemiology & Public Health, University of Maryland, Baltimore Contact Information Business Address 9609 Medical Center Drive, 6E530 Rockville, MD 20850 Business Phone 240-276-6402 Emails [email protected] [email protected] Education University of Maryland – Baltimore, Baltimore, MD Ongoing Ph.D. Epidemiology Expected graduation: May 2018 2015 M.S. Epidemiology & Preventive Medicine Concentration: Human Genetics 2014 GradCert. Research Ethics Colorado State University, Fort Collins, CO 2009 B.S. Biological Science Minor: Biomedical Sciences 2009 Cert. Biomedical Engineering Interdisciplinary studies program Professional Experience Research Experience 2016 – present Pre-doctoral Fellow National Cancer Institute, National Institutes -
Actinomycosis Israeli, 129, 352, 391 Types Of, 691 Addison's Disease, Premature Ovarian Failure In, 742
Index Abattoirs, tumor surveys on animals from, 823, Abruptio placentae, etiology of, 667 828 Abscess( es) Abdomen from endometritis, 249 ectopic pregnancy in, 6 5 1 in leiomyomata, 305 endometriosis of, 405 ovarian, 352, 387, 388-391 enlargement of, from intravenous tuboovarian, 347, 349, 360, 388-390 leiomyomatosis, 309 Acantholysis, of vulva, 26 Abdominal ostium, 6 Acatalasemia, prenatal diagnosis of, 714 Abortion, 691-697 Accessory ovary, 366 actinomycosis following, 129 Acetic acid, use in cervical colposcopy, 166-167 as choriocarcinoma precursor, 708 "Acetic acid test," in colposcopy, 167 criminal, 695 N-Aceryl-a-D-glucosamidase, in prenatal diagnosis, definition of, 691 718 of ectopic pregnancy, 650-653 Acid lipase, in prenatal diagnosis, 718 endometrial biopsy for, 246-247 Acid phosphatase in endometrial epithelium, 238, endometritis following, 250-252, 254 240 fetal abnormalities in, 655 in prenatal diagnosis, 716 habitual, 694-695 Acridine orange fluorescence test, for cervical from herpesvirus infections, 128 neoplasia, 168 of hydatidiform mole, 699-700 Acrochordon, of vulva, 31 induced, 695-697 Actinomycin D from leiomyomata, 300, 737 in therapy of missed, 695, 702 choriocarcinoma, 709 tissue studies of, 789-794 dysgerminomas, 53 7 monosomy X and, 433 endodermal sinus tumors, 545 after radiation for cervical cancer, 188 Actinomycosis, 25 spontaneous, 691-694 of cervix, 129, 130 pathologic ova in, 702 of endometrium, 257 preceding choriocarcinoma, 705 of fallopian tube, 352 tissue studies of, 789-794 of ovary, 390, 391 threatened, -
Angiotensin II Type 1 Receptor Expression in Ovarian Cancer and Its Correlation with Tumour Angiogenesis and Patient Survival
British Journal of Cancer (2006) 94, 552 – 560 & 2006 Cancer Research UK All rights reserved 0007 – 0920/06 $30.00 www.bjcancer.com Angiotensin II type 1 receptor expression in ovarian cancer and its correlation with tumour angiogenesis and patient survival K Ino1, K Shibata1, H Kajiyama1, E Yamamoto1, T Nagasaka2, A Nawa1, S Nomura1 and F Kikkawa1 1 Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan; 2 Division of Pathology/Clinical Laboratory, Nagoya University Graduate School of Medicine, Nagoya, Japan Angiotensin II, a main effector peptide in the renin–angiotensin system, acts as a growth-promoting and angiogenic factor via type 1 angiotensin II receptors (AT1R). We have recently demonstrated that angiotensin II enhanced tumour cell invasion and vascular endothelial growth factor (VEGF) secretion via AT1R in ovarian cancer cell lines in vitro. The aim of the present study was to determine whether AT1R expression in ovarian cancer is correlated with clinicopathological parameters, angiogenic factors and patient survival. Immunohistochemical staining for AT1R, VEGF, CD34 and proliferating cell nuclear antigen (PCNA) were analysed in ovarian cancer tissues (n ¼ 67). Intratumour microvessel density (MVD) was analysed by counting the CD34-positive endothelial cells. Type 1 angiotensin II receptors were expressed in 85% of the cases examined, of which 55% were strongly positive. Type 1 angiotensin II receptors expression was positively correlated with VEGF expression intensity and MVD, but not with histological subtype, grade, FIGO stage or PCNA labelling index. In patients who had positive staining for AT1R, the overall survival and progression-free survival were significantly poor (P ¼ 0.041 and 0.017, respectively) as compared to those in patients who had negative staining for AT R, although VEGF, but not AT R, was an independent prognostic factor on multivariate analysis. -
Adnexal Masses: Benign Ovarian Lesions and Characterization
Adnexal Masses: Benign Ovarian Lesions and Characterization Benign Ovarian Masses Alexander Schlattau, Teresa Margarida Cunha, and Rosemarie Forstner Contents Abstract 1 Introduction .................................................... 000 Incidental adnexal masses are commonly iden- 2 Technical Recommendations tified in radiologists’ daily practice. Most of for Ovarian Lesion Characterization ........... 000 them are benign ovarian lesions of no concern. 3 Defining the Origin of a Pelvic Mass: However, sometimes defining the origin of a Adnexal Versus Extra-adnexal pelvic mass may be challenging, especially on Versus Extraperitoneal .................................. 000 ultrasound alone. Moreover, ultrasound not 4 Benign Adnexal Lesions ................................ 000 always allows the distinction between a benign 4.1 Non-neoplastic Lesions of the and a malignant adnexal tumor. Ovaries and Adnexa ......................................... 000 Most of sonographically indeterminate 4.2 Benign Neoplastic Lesions of the Ovaries ....... 000 adnexal masses turn out to be common benign 5 Functioning Ovarian Tumors........................ 000 entities that can be readily diagnosed by mag- 6 Ovarian Tumors in Children, Adolescents, netic resonance imaging. The clinical impact and Young Women ......................................... 000 of predicting the likelihood of malignancy is 7 Adnexal Masses in Pregnancy ....................... 000 crucial for proper patient management. The first part of this chapter will cover the References ............................................................... -
Pelvic Ultrasound Simulation Training Models and Case Scenarios 1Jorge Sarmiento, 2Kevan Stewart, 3Jorge Aguila, 4Arya Bagherpour, 5Sanja Kupesic Plavsic
DSJUOG Jorge Sarmiento et al 10.5005/jp-journals-10009-1330 REVIEW ARTICLE Pelvic Ultrasound Simulation Training Models and Case Scenarios 1Jorge Sarmiento, 2Kevan Stewart, 3Jorge Aguila, 4Arya Bagherpour, 5Sanja Kupesic Plavsic ABSTRACT of pathology, working as a team and communicating Pelvic ultrasound simulation training using high-fidelity information effectively. mannequins can provide a safe and controlled learning Part of our approach to teaching is helping learners environment to foster the ultrasound education of medical develop in their minds what they expect to see on ultrasound students, residents and faculty. The instruction can be tailored based on the clinical scenario that was provided to them to the specific needs of the learners. Topics for instruction before they start scanning. When learners understand the range from teaching basic anatomy and ultrasound scanning techniques to common and advanced obstetrics and gynecology potential pathology and anticipate pelvic ultrasound findings disease presentations and pathological processes. Simulation before they scan, it changes the outlook of diagnostic can closely approximate patient encounters using case based procedure. Instead of just scanning and seeing what they find, scenarios which will aid in developing knowledge and skills they transform their outlook to evaluating what they expect that can be transferred to the clinical environment. The goal of to see and identify where and why there is a deviation from simulation is to help the learners to become more confident and competent to care for their patients. what is expected. The idea is to stimulate more thoughtful discussion and maximize the learning experience. The use Keywords: Pelvic ultrasound, Ultrasound simulator, Ultrasound of simulation with mannequins enables discussion to occur simulation, Mannequin, Training, Case scenarios. -
Case Report a 36Kg Giant Ovarian Fibroma with Meigs Syndrome: a Case Report and Literature Review of Extremely Giant Ovarian Tumor
Hindawi Case Reports in Obstetrics and Gynecology Volume 2021, Article ID 1076855, 8 pages https://doi.org/10.1155/2021/1076855 Case Report A 36kg Giant Ovarian Fibroma with Meigs Syndrome: A Case Report and Literature Review of Extremely Giant Ovarian Tumor Miyu Tanaka , Koji Yamanoi , Sachiko Kitamura, Naoki Horikawa, Yoshitsugu Chigusa , Akihito Horie, Ken Yamaguchi, Junzo Hamanishi, Eiji Kondoh , and Masaki Mandai Department of Gynecology and Obstetrics, Graduate School of Medicine, Kyoto University, 54 Shogoinkawahara-cho, Sakyo-ku, Kyoto city, Kyoto, Japan 606-8507 Correspondence should be addressed to Koji Yamanoi; [email protected] Received 16 May 2021; Accepted 30 July 2021; Published 16 August 2021 Academic Editor: Julio Rosa e Silva Copyright © 2021 Miyu Tanaka et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Ovarian tumors can get extremely giant to occupy the whole abdominal cavity. We report a case of 36 kg solid ovarian tumor, which was the largest ovarian solid tumor that have been ever reported. A 54-year-old woman presented to our hospital with a chief complaint of markedly distended abdominal wall. Preoperative imaging examinations revealed that most of the tumor was uniform and its density was like that of subcutaneous fat. Pleural effusion was detected in the right thoracic region. We organized a multidisciplinary team and successfully resected the right adnexa. The patient had an uneventful postoperative course, and she was discharged on the 7th postoperative day and diagnosed with a fibroma of the ovary with Meigs syndrome. -
Original Article
ORIGINAL ARTICLE REAL TIME ULTRASONOGRAPHIC EVALUATION OF GYNECOLOGICAL PELVIC MASSES - A PROSPECTIVE STUDY Kaushal Lovely1, Malik Rajesh2. 1. RMO third year, Department of Radiodiagnosis and Imaging, Gandhi Medical College and Hamidia Hospital, Bhopal, India. 2. Associate Professor and Head, Department of Radiodiagnosis and Imaging, Gandhi Medical College and Hamidia Hospital, Bhopal, India. CORRESPONDING AUTHOR Dr. Lovely Kaushal, E-2, Doctor colony, Near hanuman mandir, Idgah hills, Bhopal, Madhya Pradesh- 462001. Email- [email protected] HOW TO CITE THIS ARTICLE: Kaushal Lovely, Malik Rajesh. “Real time ultrasonographic evaluation of gynecological pelvic masses - a prospective study real time ultrasonographic evaluation of gynecological pelvic masses - a prospective study”. Journal of Evolution of Medical and Dental Sciences 2013; Vol2, Issue 25, June 24; Page: 4783-4791. ABSTRACT: The space occupying lesions in female pelvis are very common over a wide age range. Many pathological conditions give rise to pelvic mass. It is difficult to arrive at an accurate diagnosis on clinical examination alone. Transabdominal and transvaginal ultrasonography are precisely helpful to determine the origin of a mass from uterus, ovaries, adnexal or extra genital structures. Serial sonographic examinations help in assessment of change in size and consistency for monitoring and for evaluation of therapeutic response. Aims: Sonographic evaluation of gynecological pelvic masses to determine the organ of origin, and correlation of sonographic diagnosis with histopathological examination. Method: A hospital based prospective study was done on 50 female patients with gynecological masses using high resolution ultrasonography and findings were correlated with histopathology examination. Result: Sonography was performed in 50 patients after a detailed clinical examination and various diagnoses were made. -
Ovarian Cystadenoma As a Characteristic Feature of Families with Hereditary Ovarian Cancers Unassociated with BRCA1 and BRCA2 Mutations
J. Appl. Genet. 45(2), 2004, pp. 255-263 Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations Janusz MENKISZAK1, Marek BRZOSKO3, Bohdan GÓRSKI2, Jacek FLICIÑSKI3, Anna JAKUBOWSKA2, Dariusz ¯EBIE£OWICZ5, Jacek GRONWALD2, Tomasz HUZARSKI2, Tomasz BYRSKI2, Leszek TERESIÑSKI4, Maria CHOSIA4, Izabella RZEPKA-GÓRSKA1, Jan LUBIÑSKI2 1Chair and Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents and 2Hereditary Cancer Center, Department of Genetics and Pathology and 3Department of Rheumatology and 4Department of Pathology and 5Chair and Department of Obstetrics and Perinatology, Pomeranian Medical University, Szczecin, Poland Abstract. The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. -
Oral Antibiotic Exposure and Kidney Stone Disease
CLINICAL EPIDEMIOLOGY www.jasn.org Oral Antibiotic Exposure and Kidney Stone Disease Gregory E. Tasian,1,2,3 Thomas Jemielita,4 David S. Goldfarb,5 Lawrence Copelovitch,6 Jeffrey S. Gerber,2,3,7 Qufei Wu,3 and Michelle R. Denburg2,3,6 1Division of Pediatric Urology, Department of Surgery, and 2Center for Pediatric Clinical Effectiveness, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania; 3Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; 4Biostatistics and Research Decision Science, Early Oncology Department, Merck & Co., Inc., North Wales, Pennsylvania; 5Division of Nephrology, Department of Medicine, New York University Langone Medical Center, New York, New York; and Divisions of 6Nephrology and 7Infectious Diseases, Department of Pediatrics, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania ABSTRACT Background Although intestinal and urinary microbiome perturbations are associated with nephrolithia- sis, whether antibiotics are a risk factor for this condition remains unknown. Methods We determined the association between 12 classes of oral antibiotics and nephrolithiasis in a population-based, case–control study nested within 641 general practices providing electronic health record data for .13 million children and adults from 1994 to 2015 in the United Kingdom. We used in- cidence density sampling to match 25,981 patients with nephrolithiasis to 259,797 controls by age, sex, and practice at date of diagnosis (index date). Conditional logistic regression models were adjusted for the rate of health care encounters, comorbidities, urinary tract infections, and use of thiazide and loop di- uretics, proton-pump inhibitors, and statins. -
JOURNAL of SURGERY Jurnalul De Chirurgie
din 1905 JOURNAL OF SURGERY Jurnalul de Chirurgie Volume 12, Issue 2 DOI: 10.7438/1584-9341 Ju ry [ rnal e ul rg d u e S C f h o i l r u a r n g r i u e o ] J Journal of Surgery [Jurnalul de Chirurgie] ISSN: 1584-9341 TABLE OF CONTENT EDITORIAL NON-ELECTIVE SURGERY FOR ACUTE COMPLICATED DIVERTICULITIS. PRIMARY RESECTION-ANASTOMOSIS OR HARTMANN’S PROCEDURE? A SYSTEMATIC REVIEW AND META-ANALYSIS. Dionigi Lorusso, Aurore Giliberti, Margherita Bianco and Gioacchino Journal of Surgery [Jurnalul de chirurgie]. 2016; 12(2): 43-49. RESEARCH ARTICLES CARPAL TUNNEL RELEASE: AVOIDING COMPLICATIONS WITH LAYER SHIELD MATRIX. Arrotegui JI Journal of Surgery [Jurnalul de chirurgie]. 2016; 12(2): 51-53. ANORECTAL MALFORMATIONS IN A TERTIARY PEDIATRIC SURGERY CENTER FROM ROMANIA: 20 YEARS OF EXPERIENCE. Iulia Ciongrad, Gabriel Aprodu, Claudia Olaru1, Gabriela Ștefănescu, Ileana Ioniuc, Nicoleta Gimiga, Magdalena Iorga, Ioan Sârbu and Smaranda Diaconescu Journal of Surgery [Jurnalul de chirurgie]. 2016; 12(2): 55-59. CASE REPORTS GIANT CONDYLOMA ACUMINATUM (BUSCHKE-LOWENSTEIN TUMOR): A CASE REPORT AND REVIEW OF THE LITERATURE. Dimitrios Sampanis, Maria Siori, Pantelis Vassiliu, and Evaggelos Kotsiomitis Journal of Surgery [Jurnalul de chirurgie]. 2016; 12(2): 61-64. SERTOLI–LEYDIG TUMOR AND MEIGS’ SYNDROME, AN INFREQUENT ASSOCIATION-A CASE REPORT. Jessica Salazar Campos, Víctor Hugo Moreno Salazar, Alhely López Arias, María Delia Pérez Montie Gómez and David Cantú de León Journal of Surgery [Jurnalul de chirurgie]. 2016; 12(2): 65-69. ISOLATED CELIAC TRUNK DISSECTION AFTER CARDIAC SURGERY. Francesco Terrieri, Marzia Cottini, Marco Picichè, Stefano Rausei and Cesare Beghi Journal of Surgery [Jurnalul de chirurgie].