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https://www.readbyqxmd.com/read/29778392/ultrasound-guided-follicle-aspiration-at-time-of-laparotomy-in-a-patient-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#1
Ashley M Eskew, Darcy E Broughton, Maureen B Schulte, Kenan R Omurtag, Randall R Odem
OBJECTIVE: To demonstrate a unique case of direct ultrasound-guided follicle aspiration at time of a laparotomy in a patient with Mayer-Rokitansky-Küster-Hauser Syndrome. DESIGN: Video presentation. SETTING: Academic fertility center PATIENT(S): A 32-year-old gravida 0 with Mayer-Rokitansky-Küster-Hauser Syndrome and bilateral ovarian masses presented as a fertility preservation consult from gynecologic oncology due to the possibility of bilateral oophorectomy...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29751094/the-interest-of-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-and-laparoscopic-vecchietti-neovagina-in-uterus-transplantation
#2
Roman Chmel, Marta Novackova, Zlatko Pastor, Jiri Fronek
STUDY OBJECTIVE: The goal of this study was to assess a group of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) women with surgically created neovaginas in the interest of uterus transplantation (UTx) and to recruit the first group of applicants for a uterus transplant trial. DESIGN: and Setting: This is an original prospective study using semistructured interviews. PARTICIPANTS: A study group of 50 MRKH syndrome women with Vecchietti neovaginas was recruited by letter of invitation...
May 8, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29730988/pelvic-dystopia-of-right-rudimentary-multicystic-dysplastic-kidney-as-a-rare-cause-of-bedwetting-in-a-patient-with-a-single-pelvic-ectopic-left-kidney-and-agenesis-of-the-uterus-and-vagina-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-case-report
#3
Kidirali Karimbayev, Nazarbek Dzumanazarov, Mukhtar Akhaibekov, Nurzhan Berdikulov, Abay Karimbayev, Assanaly Mustafayev
BACKGROUND: Pelvic dystopia of rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in children. CASE PRESENTATION: We report the case of a 14-year-old Kazakh girl who presented with difficulty in starting the stream of urine and intermittent interruption of the urinary stream while voiding as well as bedwetting, caused by a rare congenital disease (pelvic dystopia of rudimentary multicystic dysplastic kidney). The diagnostic workup, differential diagnosis, and management, and a review of the literature are presented...
May 7, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29730431/mayer-rokitansky-kuster-hauser-syndrome-and-16p11-2-recurrent-microdeletion-a-case-report-and-review-of-the-literature
#4
Marta Gatti, Gianluca Tolva, Silvia Bergamaschi, Claudia Giavoli, Susanna Esposito, Paola Marchisio, Donatella Milani
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (OMIM #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for the majority of patients, even if the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (OMIM # 611913) is a well-known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects...
May 3, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29721502/diagnosis-and-management-of-ovarian-tumor-in-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#5
REVIEW
Yali Miao, Jirui Wen, Liwei Huang, Jiang Wu, Zhiwei Zhao
In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma, adenomyosis, or ovarian tumor, and this can lead to problems in differential diagnosis. Here we summarize the diagnosis methods and available interventions for ovarian tumor in MRKH syndrome, with emphasis on the relevant clinical findings and illustrative relevant case. According to the clinical findings and illustrative relevant case, with the help of imaging techniques, ovarian tumors can be detected in the pelvis in patients with MRKH syndrome and evaluated in terms of size...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29692522/frontal-subcutaneous-lipoma-associated-with-interhemispheric-lipoma-lipomeningocele-and-corpus-callosal-dysgenesis-in-a-young-adult-ct-and-mri-findings
#6
Nidhi Aggarwal, Kushal B Gehlot, Sunil D Kumar, Nk Kardam Alsaba Khan
Intracranial lipomas are rare incidental lesions. Rokitansky first described a corpus callosal lipoma on the posterior part of the corpus callosum in 1856. Since then many cases have been reported. We report the imaging findings of an interhemispheric lipoma extending into subcutaneous plane associated with spinal lipomeningocele and corpus callosal dysgenesis. Computed tomography and magnetic resonance imaging findings are characteristic. All cases have been reported in pediatric age group till now. Such a case in this age group has not been reported earlier...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29692510/management-of-female-congenital-short-patulous-urethra-with-urethral-tapering-and-pubovaginal-sling-a-report-of-two-cases
#7
Sumit Gahlawat, Hemant Goel, Nikhil Khattar
Congenital short patulous urethra is a rare entity and may be associated with developmental anomalies of mullerian ducts or urogenital sinus. We report the management of two cases of congenital short patulous urethra with stress urinary incontinence (SUI). Both the patients presented with SUI; one was diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and the other had uterus didelphys with longitudinally septated vagina. Both patients were successfully managed by excisional tapering of the urethra and pubovaginal sling placement...
April 2018: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/29603118/magnetic-resonance-imaging-of-vaginal-support-structure-before-and-after-vecchietti-procedure-in-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#8
Markus Huebner, John O L DeLancey, Christl Reisenauer, Sara Y Brucker, Heike Preibsch, Sabrina Fleischer, Dorit Schoeller, Diana Stefanescu, Katharina Rall
INTRODUCTION: It is unclear, how pelvic floor supporting structures might be affected by the absence of the vagina. It was the aim of this prospective study to analyze the magnetic resonance imaging (MRI) morphology of pelvic support prior and after a Vecchietti procedure in women suffering Mullerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome). MATERIAL AND METHODS: N=26 women with a diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome associated vaginal agenesis were recruited prospectively prior to the laparoscopic creation of a neovagina according to the Vecchietti procedure...
March 30, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29582123/increased-incidence-of-abnormally-located-ovary-in-patients-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-retrospective-analysis-with-magnetic-resonance-imaging
#9
Yue Wang, Jingjing Lu, Lan Zhu, Rong Chen, Bo Jiang, Bo Hou, Feng Feng, Zhengyu Jin
PURPOSE: To explore the incidence of abnormally located ovary in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome as compared to a control group with magnetic resonance imaging. METHODS: Pelvic MR images of 83 MRKH patients and 60 age-matched normal females were retrospectively reviewed by two experienced gynecological radiologists in consensus. Characteristics including location of ovary, ovarian volume, and follicle counts were assessed. The incidence of abnormally located ovary was compared between MRKH patients and controls...
March 26, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29581694/mayer-rockitansky-kuster-hauser-syndrome-presenting-as-irreducible-inguinal-hernia
#10
Radha Verma, Rajul Shah, Swarup Anand, Chirag Vaja, Kiran Gaikwad
Inguinal hernia is the most common type of hernia experienced in the surgical OPD due to the muscular anatomy of the region being weak along with the natural weaknesses like deep ring with indirect hernia being more common than direct. Inguinal hernias may have varying unusual sac contents, a case presentation of rudimentary uterus and ovaries as contents of inguinal hernia in an adult female with Mayer-Rokitansky-Kuster-Hauser (MRKH) type II syndrome. This syndrome may be attributed to abnormal development of blastema of cervicothoracic somites and pronephriducts...
February 2018: Indian Journal of Surgery
https://www.readbyqxmd.com/read/29527097/clinical-and-genetic-aspects-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#11
REVIEW
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
https://www.readbyqxmd.com/read/29478043/prenatal-diagnosis-of-hydro-metro-colpos-a-series-of-20-cases
#12
Michael R Mallmann, Heiko Reutter, Birte Mack-Detlefsen, Ingo Gottschalk, Annegret Geipel, Christoph Berg, Thomas M Boemers, Ulrich Gembruch
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017)...
February 23, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29434669/copy-number-variation-and-regions-of-homozygosity-analysis-in-patients-with-m%C3%A3-llerian-aplasia
#13
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P Chorich, Megan E Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes ( WNT4 and HNF1B ) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29415121/mayer-rokitansky-kuster-hauser-syndrome-a-unique-case-presentation
#14
Bao T Nguyen, Katherine L Dengler, Rhiana D Saunders
Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies. Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Her medical history was significant for a bicuspid aortic valve and right radial dysplasia...
February 5, 2018: Military Medicine
https://www.readbyqxmd.com/read/29399344/erratum-recent-advances-in-the-molecular-mechanisms-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#15
Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichiro Tominaga, Daisuke Aoki
[This corrects the article DOI: 10.3892/br.2017.929.].
January 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29374884/-chinese-expert-consensus-on-the-diagnosis-and-treatment-of-herlyn-werner-wunderlich-syndrome-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-and-vaginal-atresia
#16
L Zhu, J H Lang, L Song
No abstract text is available yet for this article.
January 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29234256/congenital-malformations-of-the-reproductive-tract-in-a-patient-with-poland-syndrome-is-there-a-connection
#17
Tian Meng, Ming Bai, Ru Zhao
Background: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome...
October 2017: Breast Care
https://www.readbyqxmd.com/read/29177592/hyperandrogenemia-and-ovarian-reserve-in-patients-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-type-1-and-2-potential-influences-on-ovarian-stimulation
#18
Melanie Henes, Ludmila Jurow, Andreas Peter, Birgitt Schoenfisch, Florin Andrei Taran, Markus Huebner, Harald Seeger, Sara Yvonne Brucker, Kristin Katharina Rall
PURPOSE: This study aimed to analyze the hormone profiles, to detect the rate of hyperandrogenemia and to investigate the potential effect of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) on ovarian reserve, as reflected by the serum Anti-Mullerian hormone (AMH) levels. Clinical implications were analyzed by including our own experiences with three patients after ovarian stimulation in preparation for uterus transplantation. METHODS: Serum samples of 100 patients with MRKHS (50 patients with MRKHS type 1 and 50 with type 2) were analyzed and compared to 50 individually age-matched healthy controls...
February 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29133152/laparoscopic-assisted-uterus-retrieval-from-live-organ-donors-for-uterine-transplant
#19
Shailesh Puntambekar, Milind Telang, Pankaj Kulkarni, Sanjeev Jadhav, Ravindra Sathe, Neeta Warty, Seema Puntambekar, Sandesh Kade, Mangesh Panse, Nikhil Agarkhedkar, Giriraj Gandhi, Manoj Manchekar, Hirav Parekh, Kajal Parikh, Riddhi Desai, Mehul Mehta, Mihir Chitale, Sambit Nanda
STUDY OBJECTIVE: The authors present the first ever laparoscopic-assisted uterus retrieval in a live donor for uterus transplant. DESIGN: A step-by-step surgical demonstration. SETTING: Galaxy CARE Laparoscopy Institute, Pune, India. PATIENTS: Two patients, ages 21 and 26 years, with Mayer-Rokitansky-Küster-Hauser syndrome and Asherman syndrome, respectively, with their mothers as donors. INTERVENTIONS: A 12-member team was formed...
November 10, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29068465/array-comparative-genomic-hybridization-analysis-in-patients-with-m%C3%A3-llerian-fusion-anomalies
#20
S Ledig, A C Tewes, J Hucke, T Römer, K Kapczuk, C Schippert, P Hillemanns, P Wieacker
Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-comparative genomic hybridization (CGH) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In 8 patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11...
March 2018: Clinical Genetics
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