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https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#1
Séverine Marcos, Carine Monnier, Xavier Rovira Algans, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331810/juvenile-granulosa-cell-tumor-of-the-testicle-report-of-a-neonatal-case-with-positive-alpha-fetoprotein-immunohistochemical-staining
#2
Melissa Dundas, Mark Horowitz, Richard Sidlow
We report on a case of juvenile granulosa cell tumor of the testicle in a neonate, a rare testicular tumor in children. No genital ambiguity, anatomic abnormalities, nor sex chromosome aneuploidy was noted in this patient. In our case, despite positive staining for alpha-fetoprotein which is most consistent with yolk sac tumors, all clinical, gross anatomic, histologic, and other immunohistologic characteristics of the tumor remained consistent with the diagnosis of juvenile granulosa cell tumor. The alpha-fetoprotein positivity of the tumor remains unexplained...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28324030/early-prenatal-phthalate-exposure-sex-steroid-hormones-and-newborn-birth-outcomes
#3
Sheela Sathyanarayana, Samantha Butts, Christina Wang, Emily Barrett, Ruby Nguyen, Stephen M Schwartz, Wren Haaland, Shanna H Swan
Background: Adequate sex steroid hormone concentrations are essential for normal fetal genital development in early pregnancy. Our previous study demonstrated an inverse relationship between third trimester di-ethyl hexyl (DEHP) phthalate exposure and total testosterone (TT) concentrations. Here, we examine early pregnancy phthalates, sex steroid hormone concentrations, and newborn reproductive outcomes. Methods: We examined associations between urinary phthalate metabolite concentrations in early pregnancy and serum free testosterone (FT), TT, estrone (E1), and estradiol (E2) in 591 woman/infant dyads in The Infant Development and Environment Study; we also examined relationships between hormones and newborn genital outcomes using multiple regression models with covariate adjustment...
March 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28321087/myelodysplastic-syndrome-diagnosed-on-the-occasion-of-fournier-s-gangrene
#4
Masaaki Adachi, Kimiyoshi Mitsuhashi, Hiroyuki Matsuda, Junko Watanabe, Katsuya Nakanishi
Fournier's gangrene (FG) is a fulminant infective necrotizing fasciitis, which includes the genital, perineal, and perianal regions. A 77-year-old man had previously been diagnosed as having diabetes mellitus (DM) and was treated with pioglitazone (15 mg) and miglitol (150 mg). He developed sudden perineal discomfort, fever with painful penile, and scrotal edema, subsequently leading to urinary retention. According to physical examination and CT scan results for the swollen penis and scrotum, he was diagnosed with FG...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28314908/anatomy-and-aesthetics-of-the-labia-minora-the-ideal-vulva
#5
REVIEW
C Clerico, A Larry, A Mojallal, F Boucher
Female genital cosmetic surgery is becoming more and more widespread both in the field of plastic and gynaecological surgery. The increased demand for vulvar surgery is spurred by the belief that the vulva is abnormal in appearance. What is normal in terms of labial anatomy? Labia minora enlargement or hypertrophy remains a clinical diagnosis which is poorly defined as it could be considered a variation of the normal anatomy. Enlarged labia minora can cause functional, aesthetic and psychosocial problems. In reality, given the wide variety of vulvar morphology among people, it is a very subjective issue to define the "normal" vulva...
March 10, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28267861/periodic-screening-pelvic-examination-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#6
Janelle M Guirguis-Blake, Jillian T Henderson, Leslie A Perdue
Importance: Recent changes in the periodicity of cervical cancer screening have led to questions about the role of screening pelvic examinations among asymptomatic women. Objective: To systematically review literature on health benefits, accuracy, and harms of the screening pelvic examination for gynecologic conditions for the US Preventive Services Task Force (USPSTF). Data Sources: MEDLINE, PubMed, and Cochrane Central Register of Controlled Trials for relevant English-language studies published through January 13, 2016, with surveillance through August 3, 2016...
March 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28180938/compound-heterozygous-gata5-mutations-in-a-girl-with-hydrops-fetalis-congenital-heart-defects-and-genital-anomalies
#7
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
#8
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
#9
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
#10
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
#11
COMPARATIVE STUDY
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
#12
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
#13
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/28118159/clear-cell-carcinoma-of-the-cervix-with-choriocarcinomatous-differentiation-report-of-an-extremely-rare-phenomenon-associated-with-mismatch-repair-protein-abnormality
#14
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
#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/28088311/prevalence-of-preoperative-penile-abnormalities-among-voluntary-male-medical-circumcision-patients-in-swaziland
#16
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
#17
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...
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
#18
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
#19
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
#20
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)
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