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https://www.readbyqxmd.com/read/27911069/-urological-pathology-of-lymphatic-origin
#1
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
#2
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
#3
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
#4
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...
November 16, 2016: 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
#5
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...
November 14, 2016: 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
#6
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 antenatal 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...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27831545/neuroimaging-findings-in-mowat-wilson-syndrome-a-study-of-54-patients
#7
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
#8
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
#9
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
#10
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...
October 18, 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
#11
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
#12
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
#13
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...
September 20, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27649277/familial-deletion-of-the-hoxa-gene-cluster-associated-with-hand-foot-genital-syndrome-and-phenotypic-variability
#14
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko, Selma Feldman Witchel
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies...
September 20, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27631010/nonconventional-use-of-flash-lamp-pulsed-dye-laser-in-dermatology
#15
Steven Nisticò, Piero Campolmi, Silvia Moretti, Ester Del Duca, Nicola Bruscino, Rossana Conti, Andrea Bassi, Giovanni Cannarozzo
Flash-lamp pulsed-dye laser (FPDL) is a nonablative technology, typically used in vascular malformation therapy due to its specificity for hemoglobin. FPDL treatments were performed in a large group of patients with persistent and/or recalcitrant different dermatological lesions with cutaneous microvessel involvement. In particular, 149 patients (73 males and 76 females) were treated. They were affected by the following dermatological disorders: angiokeratoma circumscriptum, genital and extragenital viral warts, striae rubrae, basal cell carcinoma, Kaposi's sarcoma, angiolymphoid hyperplasia, and Jessner-Kanof disease...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27622188/health-and-behavioral-survey-of-over-8000-finnish-cats
#16
Katariina Vapalahti, Anna-Maija Virtala, Tara A Joensuu, Katriina Tiira, Jaana Tähtinen, Hannes Lohi
A comprehensive feline health survey was conducted to reveal breed-specific inheritable diseases in Finnish pedigree cats for genetic research. Prevalence of 19 disease categories and 227 feline diseases were defined in a study population of 8175 cats belonging to 30 breeds. Dental and oral diseases, with a prevalence of 28%, and dental calculus and gingivitis (21 and 8%, respectively) were the most prevalent disease category and diseases among all cats and in most of the breeds. An exception was Korats, which were more often affected by the diseases of the respiratory tract (23%) and asthma (19%)...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/27615128/the-role-of-hepatocyte-nuclear-factor-1%C3%AE-in-disease-and-development
#17
REVIEW
R El-Khairi, L Vallier
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early-onset gout. Heterozygous mutations and complete gene deletions in HNF1B each account for approximately 50% of all cases of HNF1B-associated disease and may show autosomal dominant inheritance or arise spontaneously...
September 2016: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/27596598/denys-drash-syndrome-associated-wt1-glutamine-369-mutants-have-altered-sequence-preferences-and-altered-responses-to-epigenetic-modifications
#18
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27583267/an-uncommon-case-of-sarcomatoid-urothelial-carcinoma-in-covered-bladder-exstrophy
#19
Carlo Pavone, Marco Vella, Dario Fontana, Cristina Scalici Gesolfo, Sebastiano Oieni, Francesca Toia, Adriana Cordova
We report a case of a woman affected by covered exstrophy, uterus didelphys and external genital malformation presenting with advanced bladder cancer. After neoadjuvant therapy and anterior pelvic exenteration, the abdominal wall was reconstructed with a pedicled myocutaneous muscle-sparing vastus lateralis flap.
2016: Case Reports in Plastic Surgery & Hand Surgery
https://www.readbyqxmd.com/read/27564292/craniofacial-anomalies-associated-with-hypospadias-description-of-a-hospital-based-population-in-south-america
#20
Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante
INTRODUCTION: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. MATERIALS AND METHODS: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
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