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https://www.readbyqxmd.com/read/28479310/-jarcho-levin-and-rokitansky-syndromes-an-excepcional-association
#1
Rebeca Barriga Buján, Alba Muinelo Segade, Ana Prado-Carro, Pedro González Herranz, Rafaela Soler Fernández
No abstract text is available yet for this article.
May 4, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28434104/mullerian-dysgenesis-a-critical-review-of-the-literature
#2
REVIEW
Souzana Choussein, Dimitrios Nasioudis, Dimitrios Schizas, Konstantinos P Economopoulos
PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females...
April 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#3
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28420892/adenomyomatosis-concomitant-with-primary-gallbladder-carcinoma
#4
Tatsuya Morikawa, Takehiro Okabayashi, Yasuo Shima, Tatsuaki Sumiyoshi, Akihito Kozuki, Yuichi Saisaka, Teppei Tokumaru, Kenta Sui, Jun Iwata, Manabu Matsumoto, Sojiro Morita, Yutaka Nishioka
Some clinicians have proposed a relationship between gallbladder (GB) cancer and adenomyomatosis (ADM) of the gallbladder, although the latter condition is not considered to have malignant potential. We retrospectively reviewed the surgical pathology database of patients who underwent resection for ADM of the gallbladder at our institution from March 2005 to May 2015. In total, 624 patients underwent surgical resection of the gallbladder with Rokitansky-Aschoff sinuses. Of these cases, 93 were pathologically diagnosed with ADM of the gallbladder, with 44 (47...
April 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28405713/vaginal-vault-prolapse-in-a-patient-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-video-case-presentation
#5
Carolyn Botros, Shilpa Iyer, Alexis M Tran, Roger P Goldberg
INTRODUCTION AND HYPOTHESIS: Several reports have described vaginal prolapse in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients after creation of a neovagina. To our knowledge, no reports of primary vaginal prolapse of a blind pouch without previous intervention, or surgery for this condition, have been described. METHODS: In this case report, we describe a 19-year-old woman with MRKH and complete prolapse of her shortened vaginal pouch. Surgical correction utilizing permanent suture-based sacrospinous ligament fixation was performed...
April 12, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28397650/-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#6
Morten Herlin, Michael Bjørn Petersen
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by uterovaginal agenesis in females with normal secondary sex characteristics and normal karyotype (46,XX). The prevalence of MRKH syndrome is one in 5,000 live female births as recently confirmed by a nationwide population-based study in Denmark. This review kaleidoscopically summarizes the current knowledge of the history, genetics, diagnostics, treatment of vaginal agenesis, psychosexual aspects, and fertility options in MRKH syndrome...
March 27, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28369817/giant-leiomyoma-with-extensive-myxoid-degeneration-in-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#7
Richa Sharma, Kiran Guleria, Amita Suneja, Sruthi Bhaskaran, Nadeem Tanveer
No abstract text is available yet for this article.
March 31, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#8
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28274598/sexual-life-of-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-after-laparoscopic-vecchietti-vaginoplasty
#9
Zlatko Pastor, Jiří Froněk, Marta Nováčková, Roman Chmel
INTRODUCTION: Adequate anatomic and physiologic functions of the genitalia are fundamental prerequisites for sexual well-being and reproduction. Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) compromises female sexual life and makes reproduction impossible. AIM: To assess the psychosexual effect of vaginal reconstruction using the laparoscopic Vecchietti technique in patients with MRKHS. METHODS: Forty-two patients with MRKHS who underwent laparoscopic Vecchietti vaginoplasty were included...
March 5, 2017: Sexual Medicine
https://www.readbyqxmd.com/read/28263220/ectopic-pelvic-fibroid-in-a-woman-with-uterine-agenesis-and-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#10
Thelina Amaratunga, Iain Kirkpatrick, Yi Yan, Fern Karlicki
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the müllerian ducts. Women with this syndrome have the normal 46 XX karyotype, normal female secondary sex characteristics, and primary amenorrhea. Only a few cases have been described in the literature where a fibroid develops from a rudimentary, nonfunctioning uterus in patients with MRKH syndrome. In even rarer instances, a fibroid can develop in patients with a congenitally absent uterus...
March 3, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28246310/hyperandrogenemia-and-high-prolactin-in-congenital-utero-vaginal-aplasia-patients
#11
Patricia G Oppelt, Andreas Mueller, Liana Stephan, Ralf Dittrich, Johannes Lermann, Christian Büttner, Arif B Ekici, Gabi Conzelmann, Harald Seeger, Dorit Schöller, Katharina Rall, Matthias Wilhelm Beckmann, Pamela Lynn Strissel, Sara Brucker, Reiner Strick
Patients with the Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) have a congenital utero-vaginal-cervical aplasia, but normal or hypoplastic adnexa and develop with normal female phenotype. Although reports mostly demonstrated regular steroid hormone levels in small MRKH cohorts, single MRKH patients with hyperandrogenemia and clinical presentation, like hirsutism and acne has also been shown. Genetically a correlation of WNT4 mutations with singular MRKH patients and hyperandrogenemia was noted. This present study analyzed the hormone status of 215 MRKH patients by determining the levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol, 17-OH progesterone, testosterone, dehydroepiandrosterone sulfate (DHEAS), sex hormone-binding globulin (SHBG) and prolactin in order to determine the incidence of hyperandrogenemia and hyperprolactinemia in MRKH patients...
February 28, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28245469/decidualization-is-impaired-in-endometrial-stromal-cells-from-uterine-rudiments-in-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#12
Sara Y Brucker, Simone Eisenbeis, Juliana König, Melanie Lamy, Madhuri S Salker, Ni Zeng, Harald Seeger, Melanie Henes, Dorit Schöller, Birgitt Schönfisch, Annette Staebler, Florin-Andrei Taran, Diethelm Wallwiener, Katharina Rall
BACKGROUND/AIMS: Uterine rudiments from patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) contain all tissues typically found in the uterus. Endometrium from the rudiments predominantly exhibits basalis-like features, and endometrial proliferative capacity in patients' epithelium and stroma is significantly lower. METHODS: This single-center, prospective study conducted at a major German university hospital compared in-vitro decidualization in cultured ESCs from MRKHS patients and hysterectomy controls...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28216916/a-rare-case-of-46-xx-gonadal-dysgenesis-and-mayer-rokitansky-kuster-hauser-syndrome
#13
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216908/role-of-progenitor-cell-producing-normal-vagina-by-metaplasia-in-laparoscopic-peritoneal-vaginoplasty
#14
Pravin N Mhatre, Hemraj R Narkhede, P Amol Pawar, P Jyoti Mhatre, Das Dhanjit Kumar
CONTEXT: Host of vaginoplasty techniques have been described. None has been successful in developing normal vagina. Laparoscopic peritoneal vaginoplasty (LPV) is performed in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) culminating in normal vagina. AIMS: This study aims to confirm normal development of neovagina by anatomical and functional parameters of histology, cytology, and ultrasonography (USG) in LPV. To identify peritoneal progenitor cell by OCT4/SOX2 markers...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216131/assessing-the-experience-of-vaginal-dilator-use-and-potential-barriers-to-ongoing-use-among-a-focus-group-of-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#15
Oluyemisi A Adeyemi-Fowode, Jennifer E Dietrich
STUDY OBJECTIVE: To assess the experience of dilator use for neovagina creation in women diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and identify barriers affecting patient compliance with dilator use. DESIGN AND SETTING: This was a qualitative study using a structured questionnaire to investigate perception and identify barriers regarding vaginal dilator use. A questionnaire was administered after participants viewed a 2-minute patient educational video to additionally examine the usefulness of a patient education video tool as an adjunct to counseling in clinic on vaginal dilator use...
February 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28210483/intra-peritoneal-leiomyoma-of-the-round-ligament-in-a-patient-with-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#16
G Salem Wehbe, R Bitar, T Zreik, M Samaha, C Walter, Z Sleiman
BACKGROUND: The occurrence of an extra-uterine leiomyoma, arising from the intra-peritoneal portion of the round ligament in a lady with Müllerian agenesis diagnosed at the age of forty is extremely rare. We report a case of this rare combination in a Middle Eastern woman. CASE: A 40 years old lady, primarily amenorrheic, presented to our clinic for an infertility consultation. The work- up showed features suggestive of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a leiomyoma arising from the intra-peritoneal part of the round ligament...
December 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/28163292/a-case-of-intracystic-papillary-neoplasm-of-the-gallbladder-that-exhibited-findings-similar-to-gallbladder-adenomyomatosis-with-the-formation-of-intramural-cysts-because-of-rokitansky-aschoff-sinus-infiltration
#17
Jun Unno, Takehiro Akahane, Kenichiro Nakagawa, Keiichiro Hiramoto, Yasuchika Yamamoto, Gen Tominaga, Fumiyoshi Fujishima, Yuko Itakura
A 74-year-old man underwent regular follow-up observations after being diagnosed with gallbladder adenomyomatosis based on findings, such as the thickening of the wall of the gallbladder fundus and the presence of intramural cysts. Over the course of 3 years, a papillary tumor located on the thickened wall of the gallbladder had increased in size and extended into the lumen. Consequently, the patient was diagnosed with gallbladder cancer and underwent extended cholecystectomy. The histological diagnosis was intracystic papillary neoplasm (ICPN) of the gallbladder...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28127678/gallbladder-adenomyomatosis-imaging-findings-tricks-and-pitfalls
#18
REVIEW
Matteo Bonatti, Norberto Vezzali, Fabio Lombardo, Federica Ferro, Giulia Zamboni, Martina Tauber, Giampietro Bonatti
Gallbladder adenomyomatosis (GA) is a benign alteration of the gallbladder wall that can be found in up to 9% of patients. GA is characterized by a gallbladder wall thickening containing small bile-filled cystic spaces (i.e., the Rokitansky-Aschoff sinuses, RAS). The bile contained in RAS may undergo a progressive concentration process leading to crystal precipitation and calcification development. A correct characterization of GA is fundamental in order to avoid unnecessary cholecystectomies. Ultrasound (US) is the imaging modality of choice for diagnosing GA; the use of high-frequency probes and a precise focal depth adjustment enable correct identification and characterization of GA in the majority of cases...
April 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28003020/vertebral-defect-anal-atresia-cardiac-defect-tracheoesophageal-fistula-esophageal-atresia-renal-defect-and-limb-defect-association-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-in-co-occurrence-two-case-reports-and-a-review-of-the-literature
#19
REVIEW
Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen
BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27987200/metastatic-papillary-adenocarcinoma-in-a-22-year-old-is-her-history-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-causative-or-incidental
#20
Regina J Brown, Joshua H Petit, Lars Widdel, Patricia S Huguelet, Colin Weekes
No abstract text is available yet for this article.
December 15, 2016: Oncology (Williston Park, NY)
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