keyword
MENU ▼
Read by QxMD icon Read
search

Genital abnormality

keyword
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#2
Linn Håkonsen Arendt, Cecilia Høst Ramlau-Hansen, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Yongfu Yu, Sven Cnattingius
BACKGROUND: Overweight and obese pregnant women face higher risk of several critical birth outcomes, including an overall increased risk of congenital abnormalities. Only few studies have focused on associations between maternal overweight and the genital anomalies in boys, cryptorchidism and hypospadias, and results are inconclusive. METHODS: We performed a population-based cohort study and assessed the associations between maternal body mass index (BMI) in early pregnancy and occurrence of cryptorchidism and hypospadias...
June 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28631704/-beh%C3%A3-et-s-disease-intracardiac-thrombosis-a-description-of-two-cases-and-a-review-of-literature
#3
Z S Alekberova, P S Ovcharov, T A Lisitsyna, A V Volkov, T V Popkova
Behçet's disease (BD) is systemic vasculitis of unknown etiology, which is more common in the countries located along the Great Silk Road. The disease is diagnosed if a patient has 4 key diagnostic signs: aphthous stomatitis, genital sores, and eye and skin lesions. Vascular diseases referred to as minor criteria for BD are characterized by the formation of aneurysms and thrombosis, predominantly in the venous bed. In venous disorders, a blood clot can form in any vessel, including caval, cerebral, pulmonary, and other veins...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28630018/the-modified-ulaanbaatar-procedure-reduced-complications-and-enhanced-cosmetic-outcome-for-the-most-severe-cases-of-hypospadias
#4
V R Jayanthi, C B Ching, D G DaJusta, D J McLeod, S A Alpert
INTRODUCTION/OBJECTIVE: Proximal hypospadias is one of the most challenging conditions that pediatric urologists have to deal with. Many procedures have been devised over the years, but nothing has been proven to be the best option. Although there have been some attempts at correcting severe hypospadias in one procedure, most have advocated a staged approach. The classic approach - laying penile skin or a graft within a split glans followed by glanuloplasty at the second stage - by definition requires two operations on the glans...
May 18, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28625744/the-anterior-sagittal-transrectal-approach-astra-for-cases-associated-with-rectal-implantation-of-the-urethra-a-retrospective-review-of-six-cases
#5
A Macedo, M I S Silva, J A Pompermaier, S L Ottoni, R de Castro, M Leal da Cruz
INTRODUCTION: Severe genital abnormalities such as urogenital sinus and urethral duplication with ectopic urethra in the rectum represent a major challenge in reconstructive urology. OBJECTIVE: We aimed to review our cases presenting with functional ectopic urethra implanted in the rectum that were treated through an ASTRA approach. METHODS: We reviewed the medical records of all patients who had undergone an ASTRA approach from 2005-2016...
May 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#6
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28592920/phase-i-dose-escalation-trial-of-intravaginal-curcumin-in-women-for-cervical-dysplasia
#7
Leda Gattoc, Paula M Frew, Shontell N Thomas, Kirk A Easley, Laura Ward, H-H Sherry Chow, Chiemi A Ura, Lisa Flowers
BACKGROUND: This is a Phase I trial demonstrating safety and tolerability of intravaginal curcumin for future use in women with cervical neoplasia. OBJECTIVE: The objective of this study was to assess the safety, tolerability, and pharmacokinetics of intravaginal curcumin in healthy women. STUDY DESIGN: We conducted a 3+3 dose-escalation Phase I trial in a group of women aged 18-45 years. Thirteen subjects were given one of four doses of curcumin powder (500 mg, 1,000 mg, 1,500 mg, and 2,000 mg) packed in gelatin capsules, which was administered intravaginally daily for 14 days...
2017: Open Access Journal of Clinical Trials
https://www.readbyqxmd.com/read/28588782/rapidly-progressing-large-cell-neuroendocrine-carcinoma-arising-from-the-uterine-corpus-a-case-report-and-review-of-the-literature
#8
Aya Kobayashi, Tamaki Yahata, Sakiko Nanjo, Mika Mizoguchi, Madoka Yamamoto, Yasushi Mabuchi, Shigetaka Yagi, Sawako Minami, Kazuhiko Ino
Large-cell neuroendocrine carcinoma (LCNEC) is a high-grade neuroendocrine tumor. LCNECs arising from the genital organs are highly malignant and rare, with <20 cases of LCNEC developing from the uterine endometrium reported to date. We herein present the case of a patient with LCNEC of the endometrium. The patient was a 52-year-old woman, who exhibited lower abdominal pain and rapid uterine enlargement during outpatient treatment for uterine myoma. The endometrial biopsy suggested a diagnosis of poorly differentiated carcinoma or carcinosarcoma...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28587322/novel-variant-in-the-fgd1-gene-causing-aarskog-scott-syndrome
#9
Yihua Ge, Niu Li, Zhigang Wang, Jian Wang, Haiqing Cai
Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole-exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis...
June 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28578184/rhabdomyosarcoma-of-the-vagina-in-an-adolescent-girl
#10
Geetha Narayanan, Varun Rajan, Ridu Kumar, Lali V Soman
BACKGROUND: Gynaecologic neoplasms are rare in children and represent only <5% of all childhood tumors. Rhabdomyosarcoma (RMS) of the female genital tract of children accounts for only 3.5% of the cases. CASE: A 16 year old adolescent presented with a proliferating growth and foul smelling discharge from vagina, which on biopsy was diagnosed as RMS. She received chemotherapy and radiation to the primary site. She is alive in remission at 8 years. SUMMARY: RMS of the vagina is a rare, but highly curable tumor in adolescent girls...
May 31, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28562147/clinical-and-radiological-findings-for-early-diagnosis-of-herlyn-werner-wunderlich-syndrome-in-pediatric-age-experience-of-a-single-center
#11
Carmine Noviello, Mercedes Romano, Fabiano Nino, Ascanio Martino, Giovanni Cobellis
OBJECTIVE: The authors present their experience in the management of pediatric patients with Herlyn-Werner-Wunderlich syndrome (HWWS) considering clinical classification and anatomical characteristics of the malformation. METHODS: All the data of the patient presented at our Pediatric Surgery Unit from February 2010 to August 2015 were collected. According to the type of malformations, patients were divided in 3 groups: A (completely obstructed hemivagina), B (incompletely obstructed hemivagina), and C (communication between the duplicated cervices)...
May 31, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28557008/influence-of-tnf-alpha-inhibitors-and-fumaric-acid-esters-on-male-fertility-in-psoriasis-patients
#12
F Heppt, A Colsman, A Maronna, U Uslu, M V Heppt, F Kiesewetter, M Sticherling
OBJECTIVE: Is there any influence of a therapy with TNF alpha inhibitors or fumaric acid esters and of disease activity status on male fertility and sperm quality in psoriasis patients?. METHODS: In this monocentric, open-label, prospective study, semen samples were collected from patients receiving either TNF alpha inhibitors or fumaric acid esters for moderate to severe plaque psoriasis. Semen was analysed at baseline before onset of the systemic therapy and monitored every three months under therapy...
May 30, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28541629/adult-granulosa-cell-tumors-of-the-ovary-a-retrospective-study-of-30-cases-with-respect-to-the-expression-of-steroid-synthesis-enzymes
#13
Sachiko Kitamura, Kaoru Abiko, Noriomi Matsumura, Hidekatsu Nakai, Yumiko Akimoto, Hirotoshi Tanimoto, Ikuo Konishi
OBJECTIVE: Some, but not all, granulosa cell tumors are characterized by estrogen production. This study was designed to determine whether there are clinical or pathological variations in granulosa cell tumors in relation to the expression of sex steroid synthesis enzymes. METHODS: Clinical symptoms, serum hormonal values, and histology of 30 granulosa cell tumor patients who underwent surgery between 2002 and 2014 were retrospectively reviewed. RESULTS: Most patients presented with abnormal genital bleeding including abnormal menstrual cycles...
July 2017: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/28538217/the-significance-of-glandular-cells-on-conventional-cervicovaginal-smears-experience-from-a-tertiary-care-hospital-in-coastal-india
#14
Pooja K Suresh, Hema Kini, Jessica Minal, Neha Dhavalpure, Sridevi H Basavaiah, Deepa S Adiga, Laveena Maben
INTRODUCTION: Glandular lesions of the female genital tract (FGT) are quite uncommon compared to squamous lesions. Their cytological diagnosis is difficult because of their architectural and cytological complexity, as well as the lack of experience of many cytopathologists in this field. The aim of this study was to determine the significance of Papanicolaou (Pap) smears in the diagnosis of glandular FGT lesions. METHODOLOGY: All Pap smears reported during the period of January 2012 to December 2013 were retrieved...
2017: Acta Cytologica
https://www.readbyqxmd.com/read/28531212/epidemiological-investigation-of-the-relationship-between-common-lower-genital-tract-infections-and-high-risk-human-papillomavirus-infections-among-women-in-beijing-china
#15
Dai Zhang, Ting Li, Lei Chen, Xiaosong Zhang, Gengli Zhao, Zhaohui Liu
BACKGROUND: The incidence of lower genital tract infections in China has been increasing in recent years. The link between high-risk human papillomavirus (HR-HPV) and other sexually transmitted diseases (STDs) remains unclear. METHODS: From March to October 2014, gynecological examinations and questionnaires were conducted on 1218 married women. Cervical secretions and vaginal swab specimens were tested for Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG), Ureaplasma urealyticum (UU), yeast, clue cells and HR-HPV...
2017: PloS One
https://www.readbyqxmd.com/read/28528844/prevalence-of-chlamydia-trachomatis-and-neisseria-gonorrhea-and-associated-factors-among-women-living-with-human-immunodeficiency-virus-in-brazil-a-multicenter-study
#16
Angelica E Miranda, Mariangela F Silveira, Ana Gabriela Travassos, Teresinha Tenório, Isabel Cristina Chulvis do Val, Leonor de Lannoy Tavares, Hortensio Simões de Mattos Junior, Newton Sergio de Carvalho
BACKGROUND: Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (GC) cause infections in the female genital tract, increasing susceptibility to and infectiousness of HIV. The objectives of the present study were to determine the prevalence and associated factors of CT and GC infection among HIV-infected women in Brazil. METHODS: Cross-sectional study conducted from March to December 2015, including HIV-infected women attending referral centers in nine states of Brazil, aged 18-49 years, nonpregnant...
May 18, 2017: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28528186/the-pouch-of-the-douglas-s-pouch
#17
I Sall, E Diémé, M Diallo, E Bénadji, M Diouf, B Ndiaye, O Fall, A Sow, I C Diakhaté, M Ogougbémy
Hernia is described as the protrusion of an organ into the wall of its normal containing cavity. Internal hernia (IH) involves protrusion of viscera through: a peritoneal or mesentery defect, a normal or abnormal compartment of the peritoneal cavity. Hernias occurring in the pelvis cavity are usually classified according to the fascial margins breached and include sciatic, obturator and those through the rectouterin pouch: elytrocele and enterocele. Those hernias are defined by the protrusion of a viscus through the wall of the pelvis due to weakness of the pelvic fascia and/or muscles...
May 17, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/28516503/sonovaginography-a-useful-technique-in-the-assessment-of-the-lower-genital-tract
#18
Samuel C Johnson, N Tugce Yegul, Patricia Balcacer
Conventional sonographic evaluation of the cervix and vagina is compromised by inattention, poor subject contrast, and obscuring artifacts. We describe a technique involving distention of the vaginal canal and fornices with ultrasound gel, providing an acoustic window for improved definition of the cervix and vagina. This exam is usually performed in concert with transvaginal sonography, but a transabdominal or transperineal approach may be more useful in selected scenarios. A wide variety of formerly sonographically inconspicuous conditions are demonstrable with this technique, many of which were undetected or inadequately characterized on the physical exam...
May 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28512628/dysplasia-of-granulocytes-in-a-patient-with-hpv-disease-recurrent-infections-and-b-lymphopenia-a-novel-variant-of-whim-syndrome
#19
Giusella M F Moscato, Erica Giacobbi, Lucia Anemona, Silvia Di Cesare, Gigliola Di Matteo, Massimo Andreoni, Alessandro Mauriello, Viviana Moschese
WHIM syndrome is a condition in which affected persons have chronic peripheral neutropenia, lymphopenia, abnormal susceptibility to human papilloma virus infection, and myelokathexis. Myelokathexis refers to the retention of mature neutrophils in the bone marrow (BM), which accounts for degenerative changes and hypersegmentation. Most patients present heterozygous autosomal dominant mutations of the gene encoding CXCR4. Consequently, aberrant CXCL12/CXCR4 signaling impairs the receptor downregulation causing hyperactivation (gain-of-function) that affects BM homing for myelopoiesis and lymphopoiesis and the release of neutrophils in the bloodstream...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28505248/lactobacilli-lactoferrin-interplay-in-chlamydia-trachomatis-infection
#20
Rosa Sessa, Marisa Di Pietro, Simone Filardo, Alessia Bressan, Paola Mastromarino, Alessandra Vittoria Biasucci, Luigi Rosa, Antimo Cutone, Francesca Berlutti, Rosalba Paesano, Piera Valenti
In the cervicovaginal microenvironment, lactobacilli are known to protect against genital infections and, amongst the host defence compounds, lactoferrin has recently acquired importance for its anti-microbial and anti-inflammatory properties. An abnormal genital microenvironment facilitates the acquisition of pathogens like Chlamydia trachomatis, the leading cause of bacterial sexually transmitted infections worldwide. The aim of our study is to investigate the effects of Lactobacillus crispatus, Lactobacillus brevis and bovine lactoferrin on chlamydial infection, in order to shed light on the complex interplay between host defence mechanisms and C...
July 31, 2017: Pathogens and Disease
keyword
keyword
69060
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"