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Mullerian anomalies

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https://www.readbyqxmd.com/read/29229001/a-novel-mutation-of-hoxa11-in-a-patient-with-septate-uterus
#1
Ying Zhu, Zhi Cheng, Jing Wang, Beihong Liu, Longfei Cheng, Beili Chen, Yunxia Cao, Binbin Wang
BACKGROUND: The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11. RESULTS: We identified a potential disease-causing mutation (p. E255K) in a patient with a septate uterus. The mutation was not detected in 169 control subjects or listed in any databases of variations. Bioinformatic predictions and functional studies showed that the mutation reduces the DNA binding affinity and disrupts transactivation ability of HOXA11...
December 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29162069/martius-flap-for-recurrent-perineal-and-rectovaginal-fistulae-in-a-patient-with-crohn-s-disease-endometriosis-and-a-mullerian-anomaly
#2
Gaetano Gallo, Alberto Realis Luc, Giuseppe Clerico, Mario Trompetto
BACKGROUND: Rectovaginal fistulas represent 5% of all anorectal fistulae and are a disastrous manifestation of Crohn's disease that negatively affects patients' social and sexual quality of life. Treatment remains challenging for colorectal surgeons, and the recurrence rate remains high despite the numerous available options. CASE PRESENTATION: We describe a 31-year-old female patient with a Crohn's disease-related recurrent perineo-vaginal and recto-vaginal fistulae and a concomitant mullerian anomaly...
November 21, 2017: BMC Surgery
https://www.readbyqxmd.com/read/29155007/rare-obstructive-mullerian-anomaly-with-endometriosis-and-elevated-ca-125
#3
Christina H Suh, Yi-Horng Lee, Adrian C Balica
No abstract text is available yet for this article.
November 15, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29142454/successful-reproductive-outcome-after-laparoscopic-strassmann-s-metroplasty
#4
S D S Karthik, Alka Kriplani, Reeta Mahey, Garima Kachhawa
Mullerian anomalies cause a significant impact on the reproductive outcomes. A bicornuate uterus is a type of lateral fusion defect, which constitutes 26% of all uterine anomalies. Strassmann's metroplasty is a unification procedure performed to correct the two smaller uterine cavities into a more spacious single cavity. Improved reproductive performance was reported after unification metroplasty. Laparoscopic route can be adopted for this procedure with all the advantages of minimally invasive surgery. Here, we report a success story of a woman who suffered with six miscarriages and secondary infertility who underwent laparoscopic Strassmann's metroplasty in a tertiary care center and later delivered a baby by caesarean section...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29068465/array-cgh-analysis-in-patients-with-m%C3%A3-llerian-fusion-anomalies
#5
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-CGH (comparative genomic hybridization) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In eight patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11...
October 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29043712/uterus-dysplasia-associated-with-cervico-vaginal-agenesis
#6
Ali Mahdavi, Hadi Mirfazaelian, Ladan Younesi Asl, Zeynab Hasani, Maryam Bahreini
Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may result in to müllerian duct anomalies (MDA). We present a case of MDA and a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case showes the role of magnetic resonace imaging (MRI) on MDA diagnosis and urges the need for a unified reliable and practical classification more compatible with clinical practice.
January 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29031171/transverse-testicular-ectopia-with-inguinal-hernia-a-rare-case-report
#7
Shubhi Bhatnagar, Shahaji Chavan, Mahendra Bendre
INTRODUCTION: Transverse aberrant testicular maldescent is an extremely rare congenital anomaly characterized by the migration of one testicle towards the opposite inguinal canal. Mostly such cases are reported in children and they are very rarely seen in adults. PRESENTATION OF CASE: We report a case of a 24year old male patient with left reducible indirect inguinal hernia with absence of testis in the right hemiscrotum.On surgical exploration, the patient had both the testicles on the left side...
October 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29030159/obstructive-m%C3%A3-llerian-anomalies-in-menstruating-adolescent-girls-a-report-of-22-cases
#8
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course RESULTS: Eighteen patients (81...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28973711/pregnancy-in-non-communicating-unicornuate-uterus-diagnosis-difficulty-and-outcomes-a-case-report
#9
Camila Silveira de Souza, Gabriela Gindri Dorneles, Giana Nunes Mendonça, Caroline Mombaque Dos Santos, Francisco Maximiliano Pancich Gallarreta, Cristine Kolling Konopka
Approximately 1 in every 76,000 pregnancies develops within a unicornuate uterus with a rudimentary horn. Müllerian uterus anomalies are often asymptomatic, thus, the diagnosis is a challenge, and it is usually made during the gestation or due to its complications, such as uterine rupture, pregnancy-induced hypertension, antepartum, postpartum bleeding and intrauterine growth restriction (IUGR). In order to avoid unnecessary cesarean sections and the risks they involve, the physicians should consider the several approaches and for how long it is feasible to perform labor induction in suspected cases of pregnancy in a unicornuate uterus with a rudimentary horn, despite the rarity of the anomaly...
November 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28969729/transverse-vaginal-septum-report-of-two-patients-with-mri-findings
#10
Shaista Afzal, Imrana Masroor, Saira Naz, Shazia Bhurgri
The transverse vaginal septum is a rare form of Mullerian duct anomaly, and is a disorder of vertical fusion of Mullerian system with the sinovaginal bulb. Magnetic resonance imaging (MRI)is very useful in the detection, classification and management planning of this rare anomaly. We present two cases of transverse vaginal septum in two patients of different age groups and with different clinical presentations. The findings on MRI, related to presence of vaginal septum and the management work-up, are also discussed...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28969216/decreased-foetal-movements-secondary-to-uterine-septum-a-case-report-and-proposed-algorithm-of-management
#11
Eram Ali, Tamkin Khan, Deeba Khanam
Congenital uterine anomaly has been well established as cause of infertility and recurrent pregnancy loss. However, only few studies have reported the association of mullerian anomalies and adverse pregnancy outcome in third trimester. We are hereby reporting a case of 25-year- old female second gravida who presented at 36 weeks six days pregnancy with complaint of decreased foetal movements for the past two weeks. The female had previous history of multiple admissions on account of decreased foetal movements in the third trimester...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28960053/an-overview-of-the-results-of-hysterosonography-prior-to-in-vitro-fertilization
#12
Vinicius Medina Lopes, Jean Pierre Barguil, Thaísa Sant'Anna Lacerda, Anna Luíza Moraes Souza, Aluísio Mendes da Rocha Filho, Mariana Fonseca Roller, Eleonora Araújo Barbosa, Natalia Zavattiero Tierno, Joaquim Roberto Costa Lopes
OBJECTIVE: This study aimed to analyze the results of hysterosonography performed prior to in vitro fertilization (IVF) and to correlate anomalous findings with hysteroscopy. METHODS: Findings from 197 hysterosonograms of patients examined in an assisted reproduction clinic between January 2012 and August 2014 were included. Enrollment criteria: patients in preparation for IVF not recently submitted to uterine examination through hysterosalpingography or hysteroscopy referred to hysterosonography...
September 29, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28927039/an-unexpected-invasive-hydatidiform-mole-in-a-rudimentary-uterine-horn-a-case-report
#13
Manfei Si, Peng Li, Zeng Yuan, Hui Ma, Baoxia Cui, Beihua Kong
Rudimentary horns of the uterus develop as a result of a partial non-development of one Müllerian duct, a type of congenital uterine anomaly. Pregnancy in a rudimentary horn is uncommon and the outcome tends to be poor, with the majority of cases resulting in rupture between 10 and 15 gestational weeks, with significant risk of morbidity and mortality. Regardless of the availability of imagiological procedures and the advances being made in this field, the diagnosis of this type of ectopic pregnancy often only occurs during laparotomy or laparoscopy subsequent to abdominal pain and collapse...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28921452/the-spectrum-of-imaging-appearances-of-m%C3%A3-llerian-duct-anomalies-focus-on-mr-imaging
#14
REVIEW
Takeru Fukunaga, Shinya Fujii, Chie Inoue, Naoko Mukuda, Atsushi Murakami, Yoshio Tanabe, Tasuku Harada, Toshihide Ogawa
Müllerian duct anomalies (MDAs) are the result of incomplete development, vertical or lateral fusion, or absorption of the müllerian ducts. The range of anomalies includes uterovaginal agenesis or hypoplasia, unicornuate uterus, uterus didelphys, bicornuate uterus, septate uterus, and arcuate uterus. Correct diagnosis and classification of these anomalies are essential because pregnancy outcomes and treatment options vary between the types of anomaly. Furthermore, early identification of MDAs helps to avoid prolonged symptomatic periods and the complications that may subsequently arise, such as infertility, endometriosis, and neoplasm...
September 18, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28893655/laparoscopic-blinded-endometrial-cavity-resection-for-robert-s-uterus
#15
Huseyin Kiyak, Tolga Karacan, Lale Susan Wetherilt, Kerem Doga Seckin, Eser Sefik Ozyurek
Study Objective To demonstrate that laparoscopic excision of the endometrial tissue of a blind endometrial cavity in a patient with a Robert's uterus who did not consent to hysteroscopic surgery due to her virgin state and religious beliefs was an effective alternative treatment option for progressive dismenorrhea and pelvic pain. Design To describe a rare müllerian anomaly and the step by step laparoscopic excision technique of the endometrium of a blind uterine cavity. Setting Robert's uterus is a rare müllerian anomaly characterized by the presence of a blind endometrial cavity and an asymmetric septum...
September 8, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28893129/the-association-of-mullerian-anomalies-and-placenta-abruption-a-meta-analysis
#16
Salman Khazaei, Ensiyeh Jenabi, Yousef Veisani
BACKGROUND: Several epidemiological studies have determined that Mullerian anomalies can increase the risk of placenta abruption. To date, no meta-analysis has been performed for assessing the relationship between placenta abruption and Mullerian anomalies. This meta-analysis was conducted to estimate the association between placenta abruption and Mullerian anomalies. METHODS: We conducted a computerized literature search in Pubmed, Scopus and Web of Science covering the search period until August 2017...
September 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28826263/the-association-between-m%C3%A3-llerian-anomalies-and-perinatal-outcome
#17
Adva Cahen-Peretz, Eyal Sheiner, Michael Friger, Asnat Walfisch
INTRODUCTION: Deviation in the development of the female reproductive organs from the normal anatomy has been shown to have an impact on obstetrical outcomes and neonatal morbidity. MATERIAL AND METHODS: In this retrospective population-based cohort study, short-term neonatal morbidity and mortality were compared in pregnancies of women with and without uterine anomalies. The analysis included deliveries that occurred between the years 1991 and 2013 in a tertiary medical center...
September 4, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28819947/secondary-dysmenorrhea-due-to-a-rudimentary-non-communicating-functional-uterine-horn
#18
Ewa Woźniakowska, Anna Stępniak, Piotr Czuczwar, Paweł Milart, Tomasz Paszkowski
Unicornuate uterus with a rudimentary horn is a rare congenital Müllerian anomaly, which may lead to many obstetrical and gynaecological complications. This pathology occurs in approximately 1/100 000 women. A rudimentary horn forms due to insufficient development of the Müllerian duct. The diagnosis of this anomaly is usually delayed, as it remains asymptomatic until adolescence and its main symptom is dysmenorrhea.
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28811816/unicornuate-uterus-with-a-rudimentary-horn-diagnosed-at-scheduled-third-cesarean-section
#19
Serkan Bodur, Ulas Fidan, Mehmet Ferdi Kinci, Kazim Emre Karasahin
A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of the Müllerian duct, estimated to occur in one in 76,000 pregnancies. Life threateningly heavy bleeding is a highly expected clinical consequence of such pregnancies. According to the known literature, only two living twins and few living singleton pregnancies have been reported up to now. Here we report on an incidentally diagnosed unicornuate uterus with a communicating rudimentary horn, found during a cesarean section of a gravida 3, parity 2 (G3 P2) patient...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28807736/uterine-didelphys-with-bilateral-cervical-agenesis-in-a-15-year-old-female
#20
Kate C Arnold, Theresa C Thai, LaTasha B Craig
BACKGROUND: Isolated uterine didelphys requires no treatment in contrast to cervical agenesis, which requires a hysterectomy. Given this, correct diagnosis of Müllerian anomalies is paramount for making recommendations for patient care. CASE: A 15-year-old presented to clinic with pelvic pain and primary amenorrhea. Uterine didelphys with bilateral cervical agenesis was diagnosed by imaging. Hysterectomy was recommended and diagnosis was confirmed at surgery and by anatomic pathology...
August 11, 2017: Journal of Pediatric and Adolescent Gynecology
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