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https://www.readbyqxmd.com/read/28103463/-uterine-rupture-at-18-weeks-of-pregnancy-in-the-context-of-malformed-uterus
#1
Emídio Vale-Fernandes, Neusa Teixeira, Alexandra Cadilhe, Maria José Rocha
Birth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#2
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28059843/clinically-relevant-female-genital-tract-anomalies
#3
Mary E Christiansen, Laura Detti
Müllerian anomalies are defined as congenital uterine malformations that arise from improperly developing Müllerian ducts. These malformations have a variety of presentations ranging from asymptomatic to amenorrhea, dyspareunia, dysmenorrhea, chronic pelvic pain, pregnancy loss, fetal malpresentation, placental abruption, and intrauterine growth restriction. In this review, we discuss the clinical implications, diagnosis, and treatment of the various Müllerian anomalies focusing on the ones for which clinical intervention is amenable to improve pregnancy outcomes...
March 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#4
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28018429/408-cases-of-genital-ambiguity-followed-by-single-multidisciplinary-team-during-23-years-etiologic-diagnosis-and-sex-of-rearing
#5
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27957375/cardiovascular-malformations-in-charge-syndrome-with-digeorge-phenotype-two-case-reports
#6
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27925677/prenatal-anogenital-distance-is-shorter-in-fetuses-with-hypospadias
#7
Yinon Gilboa, Sharon Perlman, Zvi Kivilevitch, Baruch Messing, Reuven Achiron
OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies...
January 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27911069/-urological-pathology-of-lymphatic-origin
#8
A Domènech, A Serrano, I Forner-Cordero, F Gómez, D Maldonado, C Domínguez
OBJECTIVES: Lymphatic disease is a rarely cause of some very unspecific genitourinary manifestations, assuming a diagnostic challenge in most cases. The aim of this paper is to warn about the possible etiology of these urological lymphatic presentations and discuss its management. METHODS: Retrospective review of clinical data in pediatric patients with urological pathology of lymphatic origin between 2008-2014. Three patients, two boys and a girl, were included...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27881329/oral-features-and-computerized-rehabilitation-of-a-young-patient-with-charge-syndrome-using-minimally-invasive-long-term-interim-cad-cam-restorations
#9
Anja Liebermann, Caroline Freitas Rafael, Daniel Edelhoff, Marc Ramberger, Josef Schweiger, Claudia Angela Maziero Volpato, Reza Saeidi Pour
Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations...
October 27, 2016: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/27875703/prevalence-and-characterization-of-neonatal-skin-disorders-in-the-first-72h-of-life
#10
Flávia Pereira Reginatto, Damie DeVilla, Fernanda M Muller, Juliano Peruzzo, Letícia P Peres, Raquel B Steglich, Tania F Cestari
OBJECTIVE: To determine the prevalence of neonatal dermatological findings and analyze whether there is an association between these findings and neonatal and pregnancy characteristics and seasonality. METHODS: Newborns from three maternity hospitals in a Brazilian capital city were randomly selected to undergo dermatological assessment by dermatologists. RESULTS: 2938 neonates aged up to three days of life were randomly selected, of whom 309 were excluded due to Intensive Care Unit admission...
November 19, 2016: Jornal de Pediatria
https://www.readbyqxmd.com/read/27865450/reproductive-function-in-the-sons-of-women-who-experienced-stress-due-to-bereavement-before-and-during-pregnancy-a-nationwide-population-based-cohort-study
#11
Oleguer Plana-Ripoll, Jiong Li, Ulrik Schiøler Kesmodel, Erik Parner, Jørn Olsen, Olga Basso
OBJECTIVE: To estimate the association between prenatal exposure to maternal stress and reproductive disorders in Danish men, where prenatal stress exposure was defined as the mother's loss of a close relative during pregnancy or in the 12 months before conception. DESIGN: Population-based cohort study. SETTING: Not applicable. PATIENT(S): All males born in Denmark between 1973 and 2008 (n = 1,217,576) and observed for up to 39 years...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27862890/de-novo-microdeletions-and-point-mutations-affecting-sox2-in-three-individuals-with-intellectual-disability-but-without-major-eye-malformations
#12
Nicola Dennert, Hartmut Engels, Kirsten Cremer, Jessica Becker, Eva Wohlleber, Beate Albrecht, Julia K Ehret, Hermann-Josef Lüdecke, Mohnish Suri, Giulia Carignani, Alessandra Renieri, Guido M Kukuk, Thomas Wieland, Joris Andrieux, Tim M Strom, Dagmar Wieczorek, Anne Dieux-Coëslier, Alexander M Zink
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#13
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27831545/neuroimaging-findings-in-mowat-wilson-syndrome-a-study-of-54-patients
#14
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations...
November 10, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27821748/spatiotemporal-dynamics-of-androgen-signaling-underlie-sexual-differentiation-and-congenital-malformations-of-the-urethra-and-vagina
#15
Christine E Larkins, Ana B Enriquez, Martin J Cohn
Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27814383/adult-gli2-gli3%C3%AE-699-male-and-female-mice-display-a-spectrum-of-genital-malformation
#16
Fei He, Pedram Akbari, Rong Mo, Jennifer J Zhang, Chi-Chung Hui, Peter C Kim, Walid A Farhat
Disorders of sexual development (DSD) encompass a broad spectrum of urogenital malformations and are amongst the most common congenital birth defects. Although key genetic factors such as the hedgehog (Hh) family have been identified, a unifying postnatally viable model displaying the spectrum of male and female urogenital malformations has not yet been reported. Since human cases are diagnosed and treated at various stages postnatally, equivalent mouse models enabling analysis at similar stages are of significant interest...
2016: PloS One
https://www.readbyqxmd.com/read/27754820/an-extended-one-generation-reproductive-toxicity-test-of-1-2-4-triazol-5-one-nto-in-rats
#17
Emily May Lent, Lee C B Crouse, Allison M Jackovitz, Erica E Carroll, Mark S Johnson
Nitrotriazolone (1,2,4-triazol-5-one; NTO), an insensitive, energetic material used in explosive formulations, induced testicular toxicity and oligospermia in repeated-dose oral toxicity tests in rats. To evaluate whether NTO produces additional reproductive and developmental effects, a modified extended one-generation reproductive toxicity test was conducted. Rats were provided ad libitum access to NTO in drinking water at 0-, 144-, 720-, or 3600-mg/L NTO. Treatment of the parental generation began 2 (females) and 4 (males) wk premating and continued until weaning of litters...
2016: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/27748336/clinical-characteristics-of-patients-who-underwent-surgery-for-genital-tract-malformations-at-peking-union-medical-college-hospital-across-31-years
#18
Guang-Han Wang, Lan Zhu, Ai-Ming Liu, Tao Xu, Jing-He Lang
BACKGROUND: Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. METHODS: We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27707840/semen-quality-of-young-adult-icsi-offspring-the-first-results
#19
F Belva, M Bonduelle, M Roelants, D Michielsen, A Van Steirteghem, G Verheyen, H Tournaye
STUDY QUESTION: What is the semen quality of young adult men who were conceived 18-22 years ago by ICSI for male infertility? SUMMARY ANSWER: In this cohort of 54 young adult ICSI men, median sperm concentration, total sperm count and total motile sperm count were significantly lower than in spontaneously conceived peers. WHAT IS KNOWN ALREADY: The oldest ICSI offspring cohort worldwide has recently reached adulthood. Hence, their reproductive health can now be investigated...
December 2016: Human Reproduction
https://www.readbyqxmd.com/read/27693935/distribution-of-female-genital-tract-anomalies-in-two-classifications
#20
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
November 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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