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Genital malformation

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https://www.readbyqxmd.com/read/29778384/association-of-birth-defects-with-the-mode-of-assisted-reproductive-technology-in-a-chinese-data-linkage-cohort
#1
Hui-Ting Yu, Qing Yang, Xiao-Xi Sun, Guo-Wu Chen, Nai-Si Qian, Ren-Zhi Cai, Han-Bing Guo, Chun-Fang Wang
OBJECTIVE: To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. DESIGN: Retrospective, data-linkage cohort. SETTING: Not applicable. PATIENT(S): Live births resulting from ART or natural conception. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Birth defects coded according to ICD-10. RESULT(S): Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI)...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29772406/fertility-pregnancy-and-clinical-outcomes-after-uterine-arteriovenous-malformation-management
#2
Sophie Delplanque, Maela Le Lous, Maïa Proisy, Yolaine Joueidi, Estelle Bauville, Celine Rozel, Eugénie Beraud, Bertrand Bruneau, Jean Levêque, Vincent Lavoué, Krystel Nyangoh Timoh
STUDY OBJECTIVE: To evaluate fertility, pregnancy, and clinical outcomes after uterine arteriovenous malformation (UAVM) management. DESIGN: Single-center retrospective study from January 2000 to July 2017. (Canadian task force III). SETTING: One referral center. PATIENTS: Twenty-two patients with a UAVM diagnosed by Magnetic Resonance Angiography (MRA) or Computed Tomography (CT) angiography and managed by Expectant Management (EM) or Uterine Arterial Embolization (UAE) during the study period were included...
May 14, 2018: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29739453/spontaneous-renal-hemorrhage-secondary-to-choriocarcinoma-in-a-man-with-congenital-hypospadias-and-cryptorchidism-a-case-report-and-literature-review
#3
Yi Li, Gang Chen, Han Chen, Shuang Wen, Chao-Yu Xiong, Zi-Yi Yang, Yun-Xiao Zhu, Nathan Jeffreys
BACKGROUND: Choriocarcinoma is a rare malignant germ-cell tumour, most commonly found in adult women. It infrequently presents as spontaneous renal haemorrhage (SRH). Genital malformation and SRH secondary to choriocarcinoma has previously been only reported in females. We present what we believe to be the first case of a male patient with genital malformation (hypospadias and cryptorchidism) and SRH at presentation of choriocarcinoma. CASE PRESENTATION: A 25-year-old man presented to the department with intense pain in the right flank region and lower back...
May 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29738174/-hypospadias-induced-by-maternal-exposure-to-di-n-butyl-phthalate-and-its-mechanisms-in-male-rat-offspring
#4
En-Hui Li, Hai-Bin Wei, Bang-Gao Lhuangi, En-Hui Li, Qi Zhang, Zhi-Hui Xu, Da-Hong Zhang
Objective: To induce hypospadias in male rat offspring by maternal exposure to di-n-butyl phthalate (DBP) during late pregnancy and further investigate its mechanisms. METHODS: We randomly divided 20 pregnant rats into a DBP exposure and a control group, the former treated intragastrically with DBP while the latter with soybean oil at 750 mg per kilogram of the body weight per day from gestation days (GD) 14 to 18. On postnatal day (PND) 1, we recorded the incidence rate of hypospadias and observed the histopathological changes in the genital tubercle of the hypospadiac rats...
December 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29689188/dental-and-maxillofacial-signs-in-aarskog-syndrome-a-review-of-3-siblings-and-the-literature
#5
Arnaud Depeyre, Matthias Schlund, Rémi Gryseleyn, Joel Ferri
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. REPORT OF CASES: This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies...
March 29, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29669767/haematometrocolpos-and-acute-pelvic-pain-associated-with-cyclic-uterine-bleeding-ohvira-syndrome
#6
Mayank Aranke, Kim Long Nguyen, Richard D Wagner, Robert P Kauffman
Obstructed hemivagina and ipsilateral renal agenesis syndrome is a complex urogenital malformation usually presenting with obstructed menses and pelvic pain during female adolescence. The diagnosis can be established preoperatively with relative certainty by MRI or ultrasonography, and outcomes are usually satisfactory following surgical resection of the septal portion of the obstructed hemivagina. Such cases are best managed in referral centres with expertise in anatomical disorders of the female genital tract...
April 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29622552/clival-malformations-in-charge-syndrome
#7
E S Mahdi, M T Whitehead
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29549434/female-genital-tract-congenital-malformations-and-the-applicability-of-the-eshre-esge-classification-a-systematic-retrospective-analysis-of-920-patients
#8
Dorit Schöller, Marieke Hölting, Diana Stefanescu, Helen Burow, Birgitt Schönfisch, Katharina Rall, Florin-Andrei Taran, Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sara Y Brucker
PURPOSE: Several classification systems for female genital tract anomalies exist but are of limited use in clinical practice. We, therefore, assessed the applicability and ease of use of the new ESHRE/ESGE classification, using only patient records. METHODS: This retrospective, single-center, proof-of-principle study systematically analyzed the surgical reports and other hospital records of 920 inpatients and outpatients treated for confirmed female genital tract congenital malformations at a major German university hospital during 2003-2013...
June 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29505013/vaginal-atresia-and-cervical-agenesis-combined-with-asymmetric-septate-uterus-a-case-report-of-a-new-genital-malformation-and-literature-review
#9
REVIEW
Tian-Tian Han, Juan Chen, Shu Wang, Lan Zhu
RATIONALE: A combination of Vaginal atresia and septate uterus as a novel genital malformation has been reported the first time. It offers a support for the bidirectional theory. PATIENT CONCERNS: A 23-year-old woman presented with the inability to perform intercourse. The unprecedented variant was misdiagnosed by magnetic resonance imaging and ultrasonography as low vaginal atresia associated with complete septate uterus with functional endometrium in both the cavities...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29502980/male-sexuality-fertility-and-urinary-continence-in-bladder-exstrophy-epispadias-complex
#10
Nelly Reynaud, Frédérique Courtois, Pierre Mouriquand, Nicolas Morel-Journel, Kathleen Charvier, Marina Gérard, Alain Ruffion, Jean-Etienne Terrier
BACKGROUND: The bladder exstrophy-epispadias complex is a rare congenital malformation associated with severe dysfunction of the genital and urinary tracts and requiring a staged surgical reconstruction. AIM: The primary aims of this study were to report the sexuality, infertility, and urinary incontinence outcomes in a cohort of men born with bladder exstrophy-epispadias complex. The secondary aim was to highlight some predictive factors of infertility in this population...
March 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29502244/a-rare-case-of-hydrometrocolpos-from-persistent-urogenital-sinus-in-patient-affected-by-adrenogenital-syndrome
#11
REVIEW
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29492094/dealing-a-neonate-with-charge-syndrome-anaesthesia-perspective-of-perioperative-care
#12
Khalid Maudood Siddiqui, Muhammad Ali Asghar, Amjad Nadeem
CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Affected individuals typically have several main features or a combination of major and minor appearances. Here we are presenting a case report of a neonate with CHARGE syndrome who underwent successful repair of choanal atresia under general anaesthesia with invasive monitoring...
November 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29465747/antibiotics-for-treating-gonorrhoea-in-pregnancy
#13
REVIEW
Gabriella Comunián-Carrasco, Guiomar E Peña-Martí, Arturo J Martí-Carvajal
BACKGROUND: Gonorrhoea is a sexually transmitted infection that is caused by Neisseria gonorrhoeae, and is a major public health challenge today. N gonorrhoeae can be transmitted from the mother's genital tract to the newborn during birth, and can cause gonococcal ophthalmia neonatorum as well as systemic neonatal infections. It can also cause endometritis and pelvic sepsis in the mother. This review updates and replaces an earlier Cochrane Review on antibiotics for treating this infectious condition...
February 21, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29462630/pitfalls-in-assessing-chorioamnionicity-novel-observations-and-literature-review
#14
REVIEW
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in 1 fetus, or dizygotic twins forming a monochorionic placenta; (2) separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) false-negative and false-positive λ sign can arise for various reasons, and in partial monochorionic/dichorionic placentas both T and λ sign may co-exist; (4) intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; and (5) errors in ascertaining amnionicity by the visualization of thin intertwin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29459133/screening-for-mullerian-anomalies-in-patients-with-unilateral-renal-agenesis-leveraging-early-detection-to-prevent-complications
#15
M Alexandra Friedman, Liza Aguilar, Quetrell Heyward, Carol Wheeler, Anthony Caldamone
BACKGROUND: Mullerian anomalies have a known association with renal agenesis yet, to date, there are no formal recommendations for screening women with certain renal anomalies for associated genital tract disorders. OBJECTIVE: The objective of this study is to review current data regarding the association between renal and Mullerian anomalies, and propose screening recommendations. STUDY DESIGN: A comprehensive review of the literature was performed to identify relevant articles using the keywords "unilateral renal agenesis," "renal anomalies," and "Mullerian anomalies...
February 9, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29458878/variations-in-clinical-presentation-of-unicornuate-uterus-with-non-communicating-rudimentary-horn-class-iib-of-the-american-fertility-society-classification
#16
María Luisa Sánchez-Ferrer, María Teresa Prieto-Sanchez, Francisco Sánchez Del Campo
OBJECTIVE: The unicornuate uterus is a rare uterine malformation (2.4-13.7% of all uterine malformations (Engmann et al., 2004)) which usually features a rudimentary accessory horn in more than 75% of the cases. Pregnancy in the rudimentary horn is rare, but the complications attached to such pregnancies could be defined as the first clinical manifestation of rudimentary horn. CASE REPORTS: We hereby describe five cases of unicornuate uterus with rudimentary horn (UUWRH), each one with a different clinical presentation and without any correct preoperative diagnosis, and henceforth reflect on the practical aspects learnt about the differential diagnosis and management of this rare malformation...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29398588/preliminary-report-surgical-outcomes-following-genitoplasty-in-children-with-moderate-to-severe-genital-atypia
#17
K J Bernabé, N J Nokoff, D Galan, D Felsen, C E Aston, P Austin, L Baskin, Y-M Chan, E Y Cheng, D A Diamond, R Ellens, A Fried, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, A M Delozier, L L Mullins, B Palmer, A Paradis, P Reddy, K J Scott Reyes, M Schulte, J M Swartz, E Yerkes, C Wolfe-Christensen, A B Wisniewski, D P Poppas
INTRODUCTION: Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. OBJECTIVE: The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia...
February 1, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29397340/oral-lymphangiectasias-and-crohn-s-disease-two-case-reports
#18
Sheila Galvin, Stephen R Flint, Mary E Toner, Claire M Healy, Kumara Ekanayake
Lymphangiectasias, or acquired lymphangiomas, are rare in the oral cavity, more typically occurring on the skin or the genital area and, to our knowledge, have not been reported previously in association with Crohn's disease. Lymphangiectasias can occur at any age and develop secondary to chronic obstruction of the lymphatics. This differentiates them from congenital lymphangiomas, which are congenital malformations of the lymphatic system. We present 2 cases of oral lymphangiectasias associated with Crohn's disease, one of which was treated successfully with cryotherapy...
December 28, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29371155/sox2-not-always-eye-malformations-severe-genital-but-no-major-ocular-anomalies-in-a-female-patient-with-the-recurrent-c-70del20-variant
#19
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c...
January 25, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29368901/-unicornuate-uterus-with-cavitary-non-communicating-rudimentary-horn-magnetic-resonance-characterization
#20
Jenny Del Rocío Chamorro-Oscullo, Julián Antonio Sánchez-Cortázar, María de Guadalupe Gómez-Pérez
Mullerian duct or paramesonephric anomalies are a group of congenital malformations of the female genital tract that result from the alteration in one or more stages of embryonic development. The prevalence has increased, probably due to the progress of diagnostic imaging methods and the relevance that it has acquired in young women with infertility problems. Magnetic resonance imaging (MRI) is currently the method of choice for characterizing the different types of Mullerian anomalies, its complications and associated pathology...
January 2018: Revista Médica del Instituto Mexicano del Seguro Social
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