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https://www.readbyqxmd.com/read/28468208/popliteal-pterygium-syndrome-with-syngnathia
#1
Andrea Sisti, Nicola Freda, Alessandro Giacomina, Gian Luca Gatti
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28461089/vascular-lesions-of-the-female-genital-tract-clinicopathologic-findings-and-application-of-the-issva-classification
#2
Georgia Karpathiou, Celine Chauleur, Vanessa Da Cruz, Fabien Forest, Michel Peoc'h
INTRODUCTION: Vascular lesions of the female genital tract are extremely rare and their nomenclature does not widely follow the International Society for the Study of Vascular Anomalies (ISSVA) classification. AIM OF THE STUDY: To describe the clinicopathologic characteristics of vascular lesions of the female genital tract and to apply the ISSVA classification. MATERIAL AND METHODS: 19 vascular lesions were diagnosed during a 20 year period...
April 23, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28436540/early-diagnosis-of-bladder-exstrophy-quantitative-assessment-of-a-low-inserted-umbilical-cord
#3
Michal Fishel-Bartal, Sharon Perlman, Baruch Messing, Ron Bardin, Zvi Kivilevitch, Reuven Achiron, Yinon Gilboa
OBJECTIVES: Bladder exstrophy is a rare severe congenital malformation. Early prenatal diagnosis is scarcely described in the literature. Low insertion of the umbilical cord is a constant anatomic feature of bladder exstrophy. The aim of our study was to assess whether early measurements of the umbilical cord insertion-to-genital tubercle length may serve as quantitative measurements for a low-inserted umbilical cord in cases of bladder exstrophy. METHODS: The umbilical cord insertion-to-genital tubercle length was prospectively measured in all cases referred for a nonvisualized urinary bladder before 18 weeks' gestation...
April 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#4
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28422034/endocrine-disruptors-and-prostate-cancer
#5
Eduardo Sánchez de Badajoz, José Maria Lage-Sánchez, Pilar Sánchez-Gallegos
OBJECTIVES: Although prostate cancer is probably the most frequent cancer in men, little is known about its etiology. Clear evidence exists about variations in the incidence of prostate cancer between populations living in different countries. These variations could be explained by differences in lifestyle and a possible association with a set of substances that are able to intervene in the origin of the disease. METHODS: The reason that lifestyle may be the cause of prostate cancer is related to endocrine disruptors...
April 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28406917/methylomic-changes-in-individuals-with-psychosis-prenatally-exposed-to-endocrine-disrupting-compounds-lessons-from-diethylstilbestrol
#6
COMPARATIVE STUDY
Fabrice Rivollier, Boris Chaumette, Narjes Bendjemaa, Mélanie Chayet, Bruno Millet, Nematollah Jaafari, Amina Barhdadi, Louis-Philippe Lemieux Perreault, Sylvie Provost, Marie-Pierre Dubé, Raphaël Gaillard, Marie-Odile Krebs, Oussama Kebir
BACKGROUND: In the Western world, between 1940 and 1970, more than 2 million people were exposed in utero to diethylstilbestrol (DES). In exposed individuals, and in their descendants, adverse outcomes have been linked to such exposure, including cancers, genital malformations, and less consistently, psychiatric disorders. We aimed to explore whether prenatal DES exposure would be associated with DNA methylation changes, and whether these epigenetic modifications would be associated with increased risk of psychosis...
2017: PloS One
https://www.readbyqxmd.com/read/28299220/spontaneous-regression-of-uterine-arteriovenous-malformations-with-conservative-management
#7
Keiko Mekaru, Sugiko Oishi, Kozue Akamine, Chiaki Heshiki, Yoichi Aoki
Uterine arteriovenous malformation (AVM) can cause massive hemorrhage and is often treated with uterine artery embolization (UAE), which may lead to ovarian insufficiency. Thus, avoiding UAE should be considered, particularly in women undergoing fertility treatments. We present three women diagnosed with postmiscarriage AVM on color Doppler by transvaginal ultrasound imaging. They had no genital bleeding and a small mass, measuring 16-22 mm. If estradiol was >300 pg/mL when AVM was diagnosed, then a gonadotropin-releasing hormone agonist was administered...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#8
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28254239/psychosexual-development-management-of-bladder-exstrophy-epispadias-in-complex-patients
#9
M Di Grazia, S Pellizzoni, L G Tonegatti, W Rigamonti
INTRODUCTION: Bladder-exstrophy-epispadias complex (BEEC) represents a spectrum of urogenital step-wise malformations: epispadias, complete exstrophy, and cloacal exstrophy. Psychosexual development in adolescent patients with BEEC may become especially problematic. At present, there are few contributions in the literature investigating the validity of psychosexual treatment in order to tackle this particularly emotional and personal development phase. OBJECTIVE: The study aimed at verifying the efficacy of an intervention methodology for psychosexual support of a group of adolescents with BEEC...
June 9, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#10
Anis Ahmed, Abdullah Mufeed, Ashir Kolikkal Ramachamparambathu, Umer Hasoon
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28163810/eruption-of-blood-arteriovenous-malformation-of-the-penile-urethra
#11
Joshua T White, Richard J Baverstock
While arteriovenous malformations (AVMs) are a common congenital or post-traumatic abnormality, male genital AVMs are rare and have been described in the scrotum or penis in pediatric patients.1,2 We describe a 34-year-old male presenting with recurrent spontaneous penile urethral bleeding found to have an AVM of the penile urethra. While angiography has traditionally been helpful, magnetic resonance imaging (MRI) can aid in the diagnosis and characterization of these lesions.3 Each case of male genital AVM provides a unique challenge to manage depending on the presenting complaint, as there are no guidelines to direct treatment...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28161406/glans-duplication-in-depth-review-and-proposal-of-a-new-classification
#12
REVIEW
Lisieux E Jesus, Samuel Dekermacher, Erica Lopes, Andreia P Bacon
BACKGROUND: Diphallia is a very uncommon malformation, and glans duplication (GD) is its rarest form. In this last group, patients normally present with esthetic/sexual complaints or obstructed voiding late in life after pubertal genital development. Associated malformations are uncommon and relatively mild in those cases. METHODS: After a case presented, we present herein an extensive review of GD, as the disease is rare, and there is very little about its treatment and there are diverse approaches to address the condition...
January 18, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28134642/popliteal-pterygium-syndrome-with-syngnathia
#13
Andrea Sisti, Nicola Freda, Alessandro Giacomina, Gian Luca Gatti
Popliteal pterygium syndrome is a condition characterized by skin webs of skin on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, which is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#14
Giacomo Colletti, Marco Mandalà, Vittorio Colletti, Alberto Deganello, Fabiana Allevi, Liliana Colletti
OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28103463/-uterine-rupture-at-18-weeks-of-pregnancy-in-the-context-of-malformed-uterus
#15
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
#16
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...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28059843/clinically-relevant-female-genital-tract-anomalies
#17
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
#18
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
#19
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
#20
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
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