keyword
MENU ▼
Read by QxMD icon Read
search

urogenital syndrome

keyword
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#1
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27882259/right-lung-agenesis-with-tracheal-stenosis-due-to-complete-tracheal-rings-and-postpneumonectomy-like-syndrome-treated-with-tissue-expander-placement
#2
Yashwant Agrawal, Sandeep Patri, Jagadeesh K Kalavakunta
Congenital lung agenesis is an extremely rare condition with an estimated prevalence of 34 in 1,000,000 live births. It is often associated with other congenital malformations of the skeletal, cardiovascular, urogenital, and gastrointestinal systems. We discuss the case of a 5-month-old who presented with increasing stridor over 1 month. Imaging revealed right lung agenesis, complete dextromalposition of heart, and compression of distal trachea. An intrathoracic saline tissue expander was placed which marked improved distal tracheal stenosis...
2016: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/27845140/re-combined-therapy-with-adipose-derived-mesenchymal-stem-cells-and-ciprofloxacin-against-acute-urogenital-organ-damage-in-rat-sepsis-syndrome-induced-by-intrapelvic-injection-of-cecal-bacteria
#3
https://www.readbyqxmd.com/read/27823733/microablative-fractional-co2-laser-therapy-and-the-genitourinary-syndrome-of-menopause-an-observational-study
#4
Eleni Pitsouni, Themos Grigoriadis, Angeliki Tsiveleka, Dimitris Zacharakis, Stefano Salvatore, Stavros Athanasiou
OBJECTIVES: This study aimed to assess the effect of the Microablative Fractional CO2 Laser (CO2-laser) therapy on vaginal pathophysiology and the symptoms of the Genitourinary Syndrome of Menopause (GSM). METHODS: Postmenopausal women with moderate to severe symptoms of GSM underwent three sessions of CO2-laser therapy at monthly intervals. Participants were evaluated at baseline and 4 weeks after the last treatment. MAIN OUTCOME MEASURES: The primary outcomes were Vaginal Maturation Value (VMV) and Vaginal Health Index Score (VHIS)...
December 2016: Maturitas
https://www.readbyqxmd.com/read/27803827/a-case-of-type-2-youssef-s-syndrome-following-caesarean-section-for-placenta-previa-totalis
#5
Sefa Kurt, Funda Obuz
Vesicouterine fistula is a rare type of urogenital fistulas. It is most commonly observed after cesarean section (C/S) due to iatrogenic reasons. In this article, a case of a vesicouterine fistula which developed after C/S operation is presented. This was the patient's second C/S and this time placenta previa totalis was the primary pathology. Since it is a rare complication, we found it interesting, and, in this article, this clinical problem was discussed with details about diagnosis and treatment in light of the literature...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27745762/-lower-urinary-tract-symptoms-related-to-benign-prostatic-hyperplasia-and-erectile-dysfunction-a-systematic-review
#6
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
https://www.readbyqxmd.com/read/27701157/truncating-wilms-tumor-suppressor-gene-1-mutation-in-an-xx-female-with-adult-onset-focal-segmental-glomerulosclerosis-and-streak-ovaries-a-case-report
#7
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
https://www.readbyqxmd.com/read/27695215/coexisting-urogenital-anomaly-and-duodenal-atresia-in-two-atypical-holt-oram-syndrome
#8
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
https://www.readbyqxmd.com/read/27649277/familial-deletion-of-the-hoxa-gene-cluster-associated-with-hand-foot-genital-syndrome-and-phenotypic-variability
#9
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
https://www.readbyqxmd.com/read/27628762/-modified-pembersal-osteotomy-technique-with-lyophilized-human-allograft
#10
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...
December 2016: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/27619365/neisseria-gonorrhoeae-among-suspects-of-sexually-transmitted-infection-in-gambella-hospital-ethiopia-risk-factors-and-drug-resistance
#11
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
https://www.readbyqxmd.com/read/27571123/phenotypic-heterogeneity-of-neutropenia-and-gastrointestinal-illness-associated-with-g6pc3-founder-mutation
#12
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
https://www.readbyqxmd.com/read/27499650/a-newborn-with-very-rare-von-voss-cherstvoy-syndrome-a-case-report
#13
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
https://www.readbyqxmd.com/read/27447114/aspp2-deficiency-causes-features-of-1q41q42-microdeletion-syndrome
#14
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...
December 2016: Cell Death and Differentiation
https://www.readbyqxmd.com/read/27424375/severe-hemoperitoneum-during-pregnancy-with-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-a-case-report
#15
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
https://www.readbyqxmd.com/read/27418769/bardet-biedl-syndrome-with-vulva-carcinoma-presented-with-acute-renal-failure-a-case-report
#16
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
https://www.readbyqxmd.com/read/27351625/recurrence-of-split-hand-foot-malformation-cleft-lip-palate-and-severe-urogenital-abnormalities-due-to-germline-mosaicism-for-tp63-mutation
#17
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
https://www.readbyqxmd.com/read/27307842/uterine-didelphys-associated-with-obstructed-hemivagina-and-ipsilateral-renal-anomaly-ohvira-syndrome
#18
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
https://www.readbyqxmd.com/read/27281861/genitourinary-syndrome-of-menopause-and-vaginal-estrogen-use
#19
REVIEW
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
https://www.readbyqxmd.com/read/27203859/-the-wolf-hirschhorn-syndrome
#20
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
keyword
keyword
113092
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"