keyword
MENU ▼
Read by QxMD icon Read
search

renal agenesis

keyword
https://www.readbyqxmd.com/read/28228879/zinner-syndrome-diagnosed-by-magnetic-resonance-imaging-and-computed-tomography-role-of-imaging-to-identify-and-evaluate-the-uncommon-variation-in-development-of-the-male-genital-tract
#1
V Fiaschetti, L Greco, V Giuricin, D De Vivo, E Di Caprera, R Di Trapano, F Castellani, R Floris
Seminal vesicle cysts are a very rare condition and its often associated with ipsilateral renal agenesis. The diagnosis of seminal vesicle cysts may be delayed or missed because of the non-specific symptoms of this condition. This article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 56 years old man.
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28222038/evidence-based-ethically-justified-counseling-for-fetal-bilateral-renal-agenesis
#2
Alana N Thomas, Laurence B McCullough, Frank A Chervenak, Frank X Placencia
BACKGROUND: Not much data are available on the natural history of bilateral renal agenesis, as the medical community does not typically offer aggressive obstetric or neonatal care asbilateral renal agenesis has been accepted as a lethal condition. AIM: To provide an evidence-based, ethically justified approach to counseling pregnant women about the obstetric management of bilateral renal agenesis. STUDY DESIGN: A systematic literature search was performed using multiple databases...
February 21, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28208931/pseudo-exstrophy-of-bladder-with-unilateral-renal-agenesis-a-rare-combination-of-two-anomalies
#3
Abdolhamid Amouei, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare combination of two anomalies. She was born at 37 weeks gestational age with caesarean section delivery. The X-ray of hip revealed pubic diastasis. Ultrasonography clearly showed absence of the left kidney with a normal right kidney. The patient was treated successfully with proper surgical management...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203451/case-report-a-rare-cause-of-complicated-urinary-tract-infection-in-a-woman-with-herlyn-werner-wunderlich-syndrome
#4
Jun-Li Tsai, Shang-Feng Tsai
INTRODUCTION: Urinary tract infection is a common disease in the general population. However, in patients with frequent urinary tract infection, it is important to determine any treatable cause to avoid recurrence. CASE PRESENTATION: Herlyn-Werner-Wunderlich syndrome or OHVIRA syndrome is a very rare congenital anomaly with uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The earliest presentation of this syndrome is hematocolpos that develops during menstruation and results in dysmenorrhea and a pelvic mass shortly after menarche...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#5
REVIEW
Stacy Rosenblum, Abhijeet Pal, Kimberly Reidy
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT are a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Prenatal imaging is useful to identify CAKUT, but will not detect all defects. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development...
February 1, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28108134/-early-kidney-damage-in-patients-born-with-unilateral-renal-agenesis
#6
Ana Castellano-Martinez, Moises Rodriguez-Gonzalez, Virginia Roldan-Cano
No abstract text is available yet for this article.
January 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28003020/vertebral-defect-anal-atresia-cardiac-defect-tracheoesophageal-fistula-esophageal-atresia-renal-defect-and-limb-defect-association-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-in-co-occurrence-two-case-reports-and-a-review-of-the-literature
#7
Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen
BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27965957/22q11-deletion-syndrome-and-urogenital-manifestations-a-clinicopathological-case-report
#8
M Vachette, G E Grant, J Bouquet de la Joliniere, M Jotterand, N Ben Ali, A Feki, R Capoccia Brugger
BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#9
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#10
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#11
Pablo Naval-Baudin, Elena Carreño García, Ana Sanchez Marquez, Joana Valcárcel José, Natalia M Romero
The association of ipsilateral renal agenesis and cystic seminal vesicle is a rare congenital syndrome described by Zinner in 1914. The cases of two patients with this syndrome are presented, one of them associated with infertility, the other with cryptorchidism and testicular pain. A brief review of the literature is undertaken, regarding the main clinical and imaging implications, and the developmental anomalies that are involved in this unusual congenital anomaly are analyzed.
December 1, 2016: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#12
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27794475/constitutional-560-49%C3%A2-kb-chromosome-2p24-3-duplication-including-the-mycn-gene-identified-by-snp-chromosome-microarray-analysis-in-a-child-with-multiple-congenital-anomalies-and-bilateral-wilms-tumor
#13
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton
Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27734512/prenatal-compensatory-renal-growth-in-unilateral-renal-agenesis
#14
Sharon Perlman, Dani Lotan, Benjamin Dekel, Zvi Kivilevitch, Yinon Hazan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis (URA). METHODS: A retrospective study of fetuses with isolated URA diagnosed prenatally, and confirmed postnatal was performed. RESULTS: Seventy-four fetuses with isolated solitary kidney were included in the study. A total of 134 measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each)...
November 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27733230/endometrial-carcinoma-arising-in-didelphic-uterus-accompanied-by-right-renal-agenesis-a-case-report
#15
Zhi-Qiang Wang, Zhi-Gang Wang, Pan Li, Hong-Bing Cai
No abstract text is available yet for this article.
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/27717313/heterozygous-p-s811f-ret-gene-mutation-associated-with-renal-agenesis-oligomeganephronia-and-total-colonic-aganglionosis-a-case-report
#16
Keisuke Sugimoto, Tomoki Miyazawa, Hitomi Nishi, Kohei Miyazaki, Takuji Enya, Mitsuru Okada, Tsukasa Takemura
BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encountered a patient with total colonic aganglionosis as well as right renal agenesis and oligomeganephronia. Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine...
October 7, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27716927/genetics-of-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#17
REVIEW
L Fontana, B Gentilin, L Fedele, C Gervasini, M Miozzo
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27697459/hematospermia-as-a-rare-form-of-presentation-of-zinner-syndrome
#18
Nelson Canales-Casco, Alejandro Dominguez-Amillo, Miguel Angel Arrabal-Polo, Francisco Javier Sanchez-Tamayo, Miguel Arrabal-Martin, Jose Manuel Cozar-Olmo
A 17-year-old adolescent boy was referred to the urology department of our institution for hematospermia after initiation of sexual relationship. A magnetic resonance imaging scan showed giant dilation of a multicystic left seminal vesicle with left renal agenesis. These findings are typical of the Zinner syndrome. In 70%-80% of the cases when renal agenesis is found, there is an ipsilateral cystic dilation of the seminal vesicle that in some cases may be associated with testicular ectopia or absence of the bladder trigone...
January 2017: Urology
https://www.readbyqxmd.com/read/27695215/coexisting-urogenital-anomaly-and-duodenal-atresia-in-two-atypical-holt-oram-syndrome
#19
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/27693935/distribution-of-female-genital-tract-anomalies-in-two-classifications
#20
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
November 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
keyword
keyword
57766
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"