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https://www.readbyqxmd.com/read/28180938/compound-heterozygous-gata5-mutations-in-a-girl-with-hydrops-fetalis-congenital-heart-defects-and-genital-anomalies
#1
Maja Hempel, Teresa Casar Tena, Thilo Diehl, Martina S Burczyk, Tim M Strom, Christian Kubisch, Melanie Philipp, Davor Lessel
GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5 with a broad variety of heart diseases; however, the clinical relevance of the identified susceptibility variants has remained unclear...
February 8, 2017: Human Genetics
https://www.readbyqxmd.com/read/28163810/eruption-of-blood-arteriovenous-malformation-of-the-penile-urethra
#2
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/28161543/anal-study-in-immunocompetent-women-with-human-papillomavirus-related-lower-genital-tract-pathology
#3
Concepción Donaire, Marcos Reillo, Juan C Martínez-Escoriza, José A López-Fernández
OBJETIVE: To estimate the prevalence of anal dysplasia in immunocompetent women with cervical intraepithelial dysplasia. STUDY DESIGN: We did a prospective cohort study, in which we enrolled 166 women with gynecological pathology related to human papilloma virus (HPV) infection. All patients underwent an anal cytology and HPV detection. Statistical analysis with a 95% confidence interval was used for prevalence calculations. A Χ2 test and Fisher's exact one were used to determine differences between groups of qualitative variables...
January 19, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28161406/glans-duplication-in-depth-review-and-proposal-of-a-new-classification
#4
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/28141596/comparison-of-mycoplasma-ies-mycofast-revolution-and-mycoplasma-ist2-to-detect-genital-mycoplasmas-in-clinical-samples
#5
Tiziana D'Inzeo, Giulia De Angelis, Barbara Fiori, Giulia Menchinelli, Flora Marzia Liotti, Grazia Angela Morandotti, Flavio De Maio, Domenico Nagel, Marco Antonaci, Maurizio Sanguinetti, Teresa Spanu
INTRODUCTION: Culture is regarded as the gold standard for the detection of genital mycoplasma in clinical samples. Commercially available diagnostic kits, based on liquid broth cultures, provide interesting alternatives to conventional culture. We assessed the laboratory performances of Mycoplasma IES (IES), the Mycofast Revolution (REV) and Mycoplasma IST 2 (IST2) compared to A7 agar plates for the detection of Ureaplasma urealyticum and Mycoplasma hominis in clinical samples. METHODOLOGY: From April to July 2013, endocervical or vaginal samples were collected from sexually active women with abnormal vaginal discharge...
January 30, 2017: Journal of Infection in Developing Countries
https://www.readbyqxmd.com/read/28131117/identification-and-management-of-obstetric-hemorrhage
#6
REVIEW
Emily J Baird
Obstetric hemorrhage remains the leading cause of maternal death and severe morbidity worldwide. Although uterine atony is the most common cause of peripartum bleeding, abnormal placentation, coagulation disorders, and genital tract trauma contribute to adverse maternal outcomes. Given the inability to reliably predict patients at high risk for obstetric hemorrhage, all parturients should be considered susceptible, and extreme vigilance must be exercised in the assessment of blood loss and hemodynamic stability during the peripartum period...
March 2017: Anesthesiology Clinics
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#7
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...
January 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28118159/clear-cell-carcinoma-of-the-cervix-with-choriocarcinomatous-differentiation-report-of-an-extremely-rare-phenomenon-associated-with-mismatch-repair-protein-abnormality
#8
Pinias Mukonoweshuro, W Glenn McCluggage
The presence of trophoblastic differentiation or nongestational choriocarcinoma in a carcinoma is rare but has been described in various organs, including in the female genital tract. We report a cervical clear cell carcinoma admixed with a component of choriocarcinoma in a 52-year-old woman, only the second report of this combination in the literature. Immunohistochemically, the tumor exhibited isolated loss of staining with the mismatch repair protein MSH6. We review the literature on trophoblastic differentiation in cervical carcinoma...
December 12, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28103463/-uterine-rupture-at-18-weeks-of-pregnancy-in-the-context-of-malformed-uterus
#9
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/28088311/prevalence-of-preoperative-penile-abnormalities-among-voluntary-male-medical-circumcision-patients-in-swaziland
#10
Anthony R Oddo, Elizabeth Ruedrich, Christopher Zust, Lindsey Marugg, Echo VanderWal, Harry VanderWal, Rebekah Sartori, Ronald Markert, Mary C McCarthy
BACKGROUND: Circumcision has been found to be an effective strategy for lowering the transmission of HIV in Africa. The Luke Commission, a mobile hospital outreach program, has used this information to decrease the rate of HIV in Swaziland by performing voluntary male medical circumcisions throughout the country. During many of these circumcisions, genital medical conditions and penile abnormalities are simultaneously discovered and corrected. PURPOSE: The goal of our study was to evaluate the prevalence of penile abnormalities discovered and treated during voluntary male medical circumcisions performed by The Luke Commission (TLC) throughout rural Swaziland...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#11
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
January 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28074107/frequency-of-chlamydia-trachomatis-infection-in-cervical-intraepithelial-lesions-and-the-status-of-cytological-p16-ki-67-dual-staining
#12
R Robial, A Longatto-Filho, C M Roteli-Martins, M F Silveira, D Stauffert, G G Ribeiro, I M Linhares, M Tacla, M A Zonta, E C Baracat
BACKGROUND: Chlamydia trachomatis (Ct) is not a disease subject to mandatory reporting in Brazil, and the prevalence rate of this genital infection varies according to the region in which studies are conducted, as well as by the detection technique employed. Ct has been associated with persistence of Human papillomavirus (HPV) infection and the facilitation of cervical carcinoma development. We evaluated the Chlamydia trachomatis infection and its association with cytology, p16/Ki-67 dual-stained cytology and cervical intraepithelial lesions status in a screening cohort in Brazil...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#13
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/28033262/primary-pulmonary-choriocarcinoma-in-a-male-that-was-successfully-diagnosed-and-treated-a-case-report-and-review-of-the-literature
#14
REVIEW
Ran Zhu, Congwei Jia, Jie Yan, Yufeng Luo, Zhen Huo
INTRODUCTION: Primary pulmonary choriocarcinoma (PPC) is extremely rare, especially in males. It is characterized by a poor response to therapy and shortened survival times. Here, we report a successful diagnosis and modified treatment for PPC in a male and a review of the literature. CASE PRESENTATION: This case report describes a 67-year-old male who was discovered to have a left pulmonary mass. The patient underwent a pulmonary lobectomy. Pathological examination showed a poorly biphasic differential tumor...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28027612/nonobliteration-of-the-processus-vaginalis-sonography-of-related-abnormalities-in-children
#15
Vasileios Rafailidis, Sotirios Varelas, Foteini Apostolopoulou, Dimitrios Rafailidis
The objective of this pictorial essay is to systematically classify processus vaginalis-related disorders in the light of embryology and present illustrative sonograms with corresponding diagrams. Failure of the processus vaginalis to obliterate during gestation results in a wide spectrum of anomalies, including communicating and noncommunicating hydroceles and inguinal and inguinoscrotal hernias, along with other related disorders of the genital system. There are varying classifications in the literature regarding the aforementioned entities...
April 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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
#16
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/27989796/altered-sox9-genital-tubercle-enhancer-region-in-hypospadias
#17
REVIEW
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, Robb de Iongh, Stefan Bagheri-Fam, Stanislas Lyonnet, Vincent Harley
Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However, the most highly conserved sub-region within RevSex, called SR4, was neither responsive to sex determining factors in vitro nor active in the gonads of transgenic mice, suggesting that SR4 may not be functioning as a testicular enhancer...
October 28, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#18
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27941184/should-we-be-more-aware-of-endometrial-cancer-in-adolescents
#19
Krzysztof Gałczyński, Łukasz Nowakowski, Tomasz Rechberger, Andrzej Semczuk
Although endometrial cancer is generally diagnosed in women after menopause, it may incidentally develop in young women or even in adolescents. Diagnostic tools should be applied in young teenage girls complaining of abnormal genital bleeding, particularly those with hereditary cancer syndromes (such as Cowden or Lynch syndromes). Adolescents affected by polycystic ovary syndrome and obesity may also be at increased risk for the development of atypical endometrial hyperplasia and endometrial cancer, and should be carefully managed when the distressing symptoms occur...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27927095/genital-autocleaning-in-the-male-cricket-gryllus-bimaculatus-1-structure-and-function-of-the-genital-membrane
#20
Mikihiko Kumashiro, Masaki Sakai
We found that the genitalia of the male cricket Gryllus bimaculatus are equipped with an autocleaning system. The cricket keeps its genitalia clean by removing foreign matter and endogenous waste. Morphological study showed that the membrane complex consists of a median pouch and a genital chamber floor covered by small scales, each of which has a base of approximately 10 µm in width and a fringe with 5-10 spines 3-20 µm in length. The scales are arranged symmetrically about the midline, curving gradually in the lateral direction and continuing to the lateral pouch serving as a trash container...
December 2016: Zoological Science
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