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urogenital syndrome

Benoît Peyronnet, Thomas Seisen, Véronique Phé, Vincent Misrai, Alexandre de la Taille, Morgan Rouprêt
AIM: To provide a systematic review of epidemiological data regarding the association between erectile dysfunction (ED) and lower urinary tract symptoms (LUTS) in men. SEARCH STRATEGY: A research has been conducted on the Medline database using the keywords: ("erectile dysfunction" or "sexual dysfunction") and ("benign prostatic hyperplasia" or "lower urinary tract symptoms"). The eligibility of studies was defined using the PICOS method in accordance with the PRISMA statement...
October 10, 2016: La Presse Médicale
Julia Hoefele, Markus J Kemper, Ulf Schoenermarck, Susanna Mueller, Hanns-Georg Klein, Anja Lemke
About 30% of children with nephrotic syndrome (NS) have inherited forms. Among them, mutations in Wilms tumor suppressor gene 1 (WT1) are a well characterized cause associated with steroid-resistant NS, Wilms tumor, and urogenital malformation in males. However, the role of WT1 mutations in adult-onset focal segmental glomerulosclerosis (FSGS) is unclear. We report the case of a 38-year-old female with FSGS. She had been diagnosed with streak ovaries during diagnostic workup for infertility. Mutational analysis identified the heterozygous mutation c...
October 5, 2016: Nephron
Tuncer Ahmet Ali, Karavelioğlu Afra, Baskin Embleton Didem, Elmas Muhsin
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.
October 2016: Journal of Indian Association of Pediatric Surgeons
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
C Druschel, K Heck, C Kraft, R Placzek
OBJECTIVE: PemberSal osteotomy to improve femoral head coverage by rotating the acetabular roof ventrally and laterally. INDICATIONS: Insufficient coverage of the femoral head, and can be combined with other surgical procedures such as femoral intertrochanteric varus-derotation osteotomy and open reduction for developmental dysplasia and dislocation of the hip or to improve sphericity and containment in Legg-Calvé-Perthes disease. This specific acetabuloplasty can only be performed in patients with an open epiphyseal growth-plate...
September 14, 2016: Operative Orthopädie und Traumatologie
Seada Ali, Tsegaye Sewunet, Zewdineh Sahlemariam, Gebre Kibru
BACKGROUND: Neisseria gonorrhoeae is a bacterium responsible for one of the classic sexually transmitted infection (STI) gonorrhea. Antibiotic resistant strains are emerging at alarming rate. Multiple sexual partners, unsafe sex and substance use habits are the main host related risk factors for acquiring the infection. Thus, this study aimed at determining the magnitude, its determinants and antimicrobial resistance profile of N. gonorrhoeae in a place where there is risk related cultural practices and relatively high HIV prevalence...
2016: BMC Research Notes
Chana L Glasser, Joseph A Picoraro, Preti Jain, Sivan Kinberg, Evelyn Rustia, Kara Gross Margolis, Kwame Anyane-Yeboa, Alejandro D Iglesias, Nancy S Green
Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the glucose-6-phosphatase/glucose-6-phosphate transporter complex, leading to arrested neutrophil maturation. Emerging evidence suggests that neutrophil function plays an important role in intestinal integrity, evidenced by inflammatory bowel disease in certain neutropenic patients...
October 2016: Journal of Pediatric Hematology/oncology
Deepak Sharma, Basudev Gupta, Sweta Shastri, Pradeep Sharma
INTRODUCTION: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder...
2016: International Medical Case Reports Journal
J Zak, V Vives, D Szumska, A Vernet, J E Schneider, P Miller, E A Slee, S Joss, Y Lacassie, E Chen, L F Escobar, M Tucker, A S Aylsworth, H A Dubbs, A T Collins, J Andrieux, A Dieux-Coeslier, E Haberlandt, D Kotzot, D A Scott, M J Parker, Z Zakaria, Y S Choy, D Wieczorek, A M Innes, K R Jun, S Zinner, F Prin, C A Lygate, P Pretorius, J A Rosenfeld, T J Mohun, X Lu
Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities...
July 22, 2016: Cell Death and Differentiation
Ayako Muraoka, Hiroyuki Tsuda, Tomomi Kotani, Fumitaka Kikkawa
BACKGROUND: Müllerian tract anomalies have been reported in 2-3% of females. Uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis (OHVIRA) syndrome is a rare condition, with only a few cases of the syndrome occurring during pregnancy having been reported. CASE: A 35-year-old, nulli-gravid woman at 18 weeks of gestation was referred due to cervical incompetence. Her first symptom was genital bleeding. Ultrasonography and MRI led to the diagnosis of OHVIRA syndrome, and pregnancy was confirmed on the affected side with the amniotic sac found to be protruding from the cervix into the vaginal cavity...
May 2016: Journal of Reproductive Medicine
F Sari, A M Sarikaya, D Suren, M Eren, B Yilmaz
BACKGROUND: Bardet-Biedl syndrome is a rare disorder characterized by retinal dystrophy, obesity, kidney dysfunction, polydactyly, hypogonadism and cognitive impairment. It can be accompanied by systemic findings such as malignancy, hypertension, diabetes mellitus, constitutional and functional disorders of urogenital system and liver fibrosis. CASE REPORT: A 35-year-old woman with Bardet-Biedl syndrome was referred to our outpatient nephrology clinic with dysuria, acute renal failure, and urinary tract infection...
April 2015: Hippokratia
Annabelle Enriquez, Michael Krivanek, Ricarda Flöttmann, Hartmut Peters, Meredith Wilson
We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography...
September 2016: American Journal of Medical Genetics. Part A
Boram Han, Christopher N Herndon, Mitchell P Rosen, Z Jane Wang, Heike Daldrup-Link
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare complex of structural abnormalities of the female urogenital tract. A 17-year-old girl with uterine didelphys associated with OHVIRA syndrome presented with progressive development of cyclic lower abdominal discomfort and a large abdominopelvic mass. We describe the findings from ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI), the first case report of this syndrome to examine all three different imaging modalities in a single patient...
2010: Radiology case reports
Nancy M Steele, Carol A Ledbetter, Francie Bernier
The prevalence of women experiencing the genitourinary syndrome of menopause is expected to escalate due to the rising numbers of menopausal women. In no other time in history has it been more important for nurses to possess current knowledge regarding menopause management.
March 2016: Urologic Nursing
U Friebe-Hoffmann, F Reister, H Gaspar, H Hummler, W Lindner, K Lato
Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported...
May 20, 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Susanne Liffner, Mats Hammar, Marie Bladh, Elizabeth Nedstrand, Heriberto Rodriguez Martinez, Gunilla Sydsjö
Being born with nonoptimal birth characteristics decreases the chance of becoming a father. Urogenital malformations as well as metabolic syndrome are more common in men born small for gestational age (SGA) and could be contributing factors to the reduced fertility rate seen in these men. It could imply that men becoming fathers by assisted reproductive technology (ART) more often are born with low birth weight (LBW), preterm, and/or SGA than men conceiving without treatment and also that men where intracytoplasmic sperm injection (ICSI) had to be performed more often are born with nonoptimal birth characteristics than men where conventional in vitro fertilization (IVF) successfully could be used...
May 17, 2016: Asian Journal of Andrology
M S Huh, D Ivanochko, L E Hashem, M Curtin, M Delorme, E Goodall, K Yan, D J Picketts
Expansive growth of neural progenitor cells (NPCs) is a prerequisite to the temporal waves of neuronal differentiation that generate the six-layered neocortex, while also placing a heavy burden on proteins that regulate chromatin packaging and genome integrity. This problem is further reflected by the growing number of developmental disorders caused by mutations in chromatin regulators. ATRX gene mutations cause a severe intellectual disability disorder (α-thalassemia mental retardation X-linked (ATRX) syndrome; OMIM no...
2016: Cell Death & Disease
Maria Ramos, Alisha Wilkens, Ian D Krantz, Yaning Wu
Distal deletion of the long arm of chromosome 10 with breakpoints mapped at 10q26 is a well-recognized contiguous genomic disorder. A wide spectrum of clinical findings is seen in affected individuals and the common clinical features include craniofacial dysmorphia, developmental delay, intellectual disability, hypotonia, cardiovascular defects, and urogenital malformations. We report herein on a male patient with a 5.5 Mb interstitial deletion of 10q26.11q2613 and compare his clinical presentation to previously reported cases...
June 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Rohit Bhoil, Ajay Ahluwalia, Narvir Chauhan
Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon combined müllerian duct anomalies (MDAs) and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. She had an obstructed hemi-vagina on right side which led to marked distention of ipsilateral cervix, while proximal hemi-vagina compressed the contralateral side causing its partial obstruction resulting in hypomenorrhoea...
April 2016: International Journal of Fertility & Sterility
A Podfigurna-Stopa, A Czyzyk, M Grymowicz, R Smolarczyk, K Katulski, K Czajkowski, B Meczekalski
PURPOSE: Premature ovarian insufficiency (POI) is defined as the cessation of the ovarian function before the age of 40 years. POI aetiology may be related to iatrogenic or endogenous factors and in many cases remains unclear. The aim of this review was to characterize the long-term consequences of POI. METHODS: The available literature regarding the long-term consequences of POI from MEDLINE has been reviewed. RESULTS: Lack of ovarian steroids synthesis has serious consequences for women's health...
September 2016: Journal of Endocrinological Investigation
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