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Urogenital Abnormalities (10):
Recent article
Urogenital Abnormalities
Abstract
We report on a male infant who, in addition to severe FMS, showed previously undescribed central nervous system (CNS) and genitourinary anomalies that contributed to the further delineation. The propositus was born to a G2, 20-year-old mother with an irregular menstrual history. The unplanned pregna...
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PMID: 20578136
PDF is available here.
PDF is available here.
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Abstract
The MRI could diagnose correctly 10 cases of hydronephrosis, one case of polycystic kidney disease (PCKD), one case of RA, two normal case and two cases of intra-abdominal masses (IA Mass) (16 of 18 cases). The prenatal ultrasound could diagnose correctly eight cases of hydronephrosis, one case of P...
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PMID: 20618240
PDF is available here.
PDF is available here.
Abstract
We describe lessons learned from the authors' series of patients born with the most complex of congenital anorectal problems, cloacal malformations, with the hope to convey the improved understanding and surgical treatment of the condition's wide spectrum of complexity learned from patients cared fo...
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PMID: 20307849
PDF is available here.
PDF is available here.
Journal of Perinatology (30)4 2010
Abstract
We identified 141 infants with UTIs. The mean gestational age and birth weight were 28 weeks and 1254 g, respectively. The most commonly identified pathogen was coagulase-negative Staphylococcus (28%, 44 of 156). A major abnormality was found on at least one imaging study for 4% (5 of 118) of infant...
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PMID: 19812586
PDF is available here.
PDF is available here.
Abstract
A 35-day-old boy presented with complaints of an enlarged deformed penis and a history of difficulty in micturition. Haematological and biochemical analyses as well as renal tract sonography were normal. Retrograde urethrography revealed congenital megalourethra which was confirmed on cystourethrosc...
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PMID: 20505916
PDF is available here.
PDF is available here.
Abstract
Monochorionic biamniotic (MC/BA) twin pregnancies are at higher risk for twin-to-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR) and structural defects.
During an 18 months period all MC/BA twins referred to our unit for clinical surveillance were evaluated. Chori...
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PMID: 20939222
PDF is available here.
PDF is available here.
Abstract
Abstract
We report a case of VACTERL complex which had concomitant horseshoe lung, laryngeal cleft, and hypertrophic pyloric stenosis, which has not been previously reported.
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PMID: 20964119
PDF is available here.
PDF is available here.
Abstract
Abstract
Zentralblatt für Chirurgie (134)6 2009
Abstract
Various outcomes following operative therapy for Hirschsprung's disease and anorectal malformations have been reported. Operative techniques for anorectal reconstruction have been modified several times in the past. Repair of anorectal -malformations have been performed through a posterior sagittal...
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PMID: 20020381
PDF is available here.
PDF is available here.
Abstract
Zhongguo Xiufu Chongjian Waike Zazhi/Chinese Journal of Reparative and Reconstructive Surgery (23)7 2009
Abstract
All the patients got satisfactory appearance immediately after surgery. No voiding problem, wound infection, and skin necrosis were found. With 6 months to 48 months (mean 16 months) follow-up, most patients achieved good results and the penile appearance resembled that after circumcision. Mild peni...
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PMID: 19662981
PDF is available here.
PDF is available here.
Abstract
Normal morphogenesis of the kidney, ureteral bud differentiation, ureteropelvic junction formation, and bladder and trigone development are regulated by complex epithelial-mesenchymal signaling events. Failure of these signaling events to occur at specified times results in developmental anomalies....
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PMID: 19461520
PDF is available here.
PDF is available here.
Abstract
Orvosi Hetilap (150)24 2009
Abstract
Although it becomes vitally important only after birth, renal function already plays significant role in maintaining fetal metabolic equilibrium. The kidneys significantly contribute to production of amniotic fluid. Adequate amount of amniotic fluid is needed to stimulate the intrauterine fetal resp...
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PMID: 19739276
PDF is available here.
PDF is available here.
Der Urologe (48)6 2009
Abstract
In all nine patients the free skin graft is revascularized. The male patients show a good cosmetic result. The penile skin is mobile, which is also reflected by an unproblematic erection in the adult patient. The only complication in the female patients was a scar between the free skin graft and the...
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PMID: 19300977
PDF is available here.
PDF is available here.
Sao Paulo Medical Journal (127)2 2009
Abstract
The aim of this paper was to discuss the embryological aspects of Müllerian duct anomalies and to analyze the current diagnostic methods and therapy. Müllerian anomalies are congenital defects of the female reproductive tract resulting from failure in the development of the Müllerian ducts...
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PMID: 19597684
PDF is available here.
PDF is available here.
European Radiology (19)5 2009
Abstract
Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare and specific entity referred to as Herlyn-Werner-Wunderlich syndrome. It usually presents after menarche with remittent pelvic pain and a palpable pelvic mass due to hematocolpos. It rarely presents with primary inf...
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PMID: 19337770
PDF is available here.
PDF is available here.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (26)2 2009
Abstract
Nine genes showed no expression throughout the whole development process; 18 genes with various expression levels showed continuous expression from the beginning of development; 6 genes only expressed for a short time, among which SNAP29 was selected for mutation screening. Upon sequencing, three mu...
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PMID: 19350501
PDF is available here.
PDF is available here.
Abstract
We describe a 17-year-old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manif...
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PMID: 19208376
PDF is available here.
PDF is available here.
Journal of Urology (181)2 2009
Abstract
Orchiectomy may be considered in healthy patients with cryptorchidism who are between ages 12 and 50 years. Observation should be recommended in postpubertal males at significant anesthetic risk and all males older than 50 years. While 5% to 15% of scrotal testicular remnants contain germinal tissue...
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PMID: 19084853
PDF is available here.
PDF is available here.
Abstract
The aim of this study was to assess the efficiency of imaging methods for the diagnosis of some congenital defects in neonates.
Seventy neonates aged 1 to 30 days, referred to the Department of Pediatric and Oncologic Surgery, Pomeranian Medical University, were examined at the Department of Diagnos...
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PMID: 20698175
PDF is available here.
PDF is available here.
Abstract
Vaginal atresia is often associated with high imperforate anus. Because the commonly used methods of surgical vaginal creation (eg, McIndoe, intestinal segment interposition) may adversely affect urinary and fecal continence, the less-invasive Vecchietti procedure was selected for a young adult with...
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PMID: 19660220
PDF is available here.
PDF is available here.
Abstract
We here report a seven-year, seven-month-old male patient with Kabuki syndrome who also had agenesis of the left kidney. We draw attention to the frequency and diversity of urogenital anomalies in this syndrome....
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PMID: 19817278
PDF is available here.
PDF is available here.
Abstract
Defective function of glucose-6-phosphatase, catalytic subunit 3, underlies a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations.
2009 Massachusetts Medical Society...
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PMID: 19118303
PDF is available here.
PDF is available here.
Abstract
Congenital Anomalies (48)4 2008
Abstract
We report herein seven cases of URSM sequence that were identified after reviewing all autopsies conducted at our hospital over a period of 26 years (1981-2006). The URSM spectrum includes partial and full URSM sequences. Absent perineal and anal openings with ambiguous genitalia are included under...
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PMID: 18983585
PDF is available here.
PDF is available here.
Zentralblatt für Chirurgie (133)6 2008
Abstract
Principally, surgical procedures in children should be performed in specialized pediatric centers. Some minor procedures on older children could eventually take place in general hospitals, provided that pediatric medical and nursing competence is available. Adequate infrastructure and an environment...
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PMID: 19090431
PDF is available here.
PDF is available here.
Journal of Pediatric Surgery (43)12 2008
Abstract
Fifty-three cases of omphalocele were observed. Twenty-seven cases were classified as small, with 26 classified as large. A predominance of males was noted in the small omphalocele group (78% vs 42%; P = .01). Intestinal anomalies, including Meckel's diverticulum and intestinal atresia, were only se...
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PMID: 19040938
PDF is available here.
PDF is available here.
Prenatal ultrasonographic features of persistent urogenital sinus with hydrometrocolpos and ascites.
Abstract
We report a persistent urogenital sinus with hydrometrocolpos and ascites at 24 weeks of gestation. CASE: Detailed ultrasonographic examination revealed female fetus with pelvic mass measured as 60 x 70 x 80 mm, anterior to sacral bone and inferior to bladder, and ascites, ureterocele, hydroureter,...
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PMID: 18305949
PDF is available here.
PDF is available here.
Pediatric Nephrology (23)10 2008
Abstract
We assessed the incidence of urogenital and extraurogenital congenital anomalies in our hypospadias patients that were noted during physical examination and/or laboratory and imaging screening, and evaluated the efficacy of our changing routine screening protocols. We conducted a retrospective analy...
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PMID: 18574601
PDF is available here.
PDF is available here.
Abstract
Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 w...
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PMID: 18926951
PDF is available here.
PDF is available here.
Abstract
Increased risk of associated malformations in children with clefts must to be highlighted and disseminated to health professionals involved in the management of children with clefts. Routine screening for other malformation, especially cardiac, skeletal, and central nervous system malformations, may...
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PMID: 18848099
PDF is available here.
PDF is available here.
Journal of Urology (180)4 2008
Abstract
The true incidence of urinomas is probably close to 15% in patients with posterior urethral valves. Renal function is similar in patients with posterior urethral valves with and without urinoma. In asymptomatic cases urinomas apparently do not require any specific treatment....
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PMID: 18710723
PDF is available here.
PDF is available here.
Abstract
To analyze the clinical features and WT1 gene mutations in patients with steroid-resistant nephrotic syndrome (SRNS) accompanied with genitourinary malformations. The expression of podocyte molecules was also investigated in renal specimen of these WT1 mutated patients.
From January 2005 to May 2007...
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PMID: 19099861
PDF is available here.
PDF is available here.
Abstract
We have created a bicycle seat stool that is height adjustable and will likely provide patients with an improved, more comfortable, and individualized method of dilation....
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PMID: 18603249
PDF is available here.
PDF is available here.
Abstract
Abstract
We present a case in which the ureter was freed using laparoscopy, and the ureteral anastomosis was carried out extracorporeally, which notably diminished the duration of the surgery. This technique would have limited use in obese patients, patients with ureters of limited length, patients with very...
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PMID: 18675655
PDF is available here.
PDF is available here.
Journal of Urology (180)2 2008
Abstract
The incidence of cryptorchidism and inguinal hernias requiring surgery is high in patients with posterior urethral valves. Patients with cryptorchidism appear to have a more severe form of posterior urethral valves than those with normal testes....
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PMID: 18554641
PDF is available here.
PDF is available here.
Abstract
We report on an unusual case that presented with a urethral dimple in the perineum in association with a pelvic soft tissue sarcoma compressing and displacing the urethra. The diagnosis was made by cystoscopy, and, as the patients remained asymptomatic, no treatment was eventually required for her u...
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PMID: 18675625
PDF is available here.
PDF is available here.
Abstract
Laparoscopic reconstructive surgery for congenital urological anomalies is safe and effective in small infants and can be performed with outcomes comparable to that of open surgery....
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PMID: 18631924
PDF is available here.
PDF is available here.
Pediatric Nephrology (23)6 2008
Abstract
We present the findings of a prospective cohort study of babies born with antenatally detected urinary tract abnormalities (AUTAs) between 1999-2003 and compare the outcomes with those of an earlier cohort born between 1989 and 1993. All infants with a fetal anteroposterior renal pelvic diameter (AP...
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PMID: 18278521
PDF is available here.
PDF is available here.
Pediatric Nephrology (23)6 2008
Etiology and outcome of chronic renal failure in hospitalized children in Ho Chi Minh City, Vietnam.
Abstract
We reviewed the records of 310 children with CRF hospitalized in Ho Chi Minh City from January 2001 to December 2005. The average annual number cases was 4.8 per million child population native to Ho Chi Minh City. Median age was 14 years; 85% of patients were in end-stage renal failure. Associated...
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PMID: 18288500
PDF is available here.
PDF is available here.
Abstract
Summary of accurate diagnosis and surgical management of vaginal anomalies. Imperforate hymen, transverse septa, and distal vaginal agenesis present similarly with pain and hematocolpos. Likewise, imperforate hymen, transverse septa, distal vaginal agenesis, and Müllerian aplasia may appear similar...
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PMID: 18463454
PDF is available here.
PDF is available here.
Abstract
A 10-year-old boy with cystic fibrosis (CF) (DeltaF508/G551D mutation) underwent an uneventful elective interval laparoscopic appendectomy. During routine laparoscopic inspection of the abdomen and groins, congenital bilateral absence of the vas deferens was noted. Pictures of the patient's internal...
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PMID: 18558214
PDF is available here.
PDF is available here.
Abstract
We report a case and its management, having left-sided duplex testis and found incidentally during inguinal hernia repair, and review the literature....
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PMID: 18558166
PDF is available here.
PDF is available here.
Human Reproduction (23)5 2008
Abstract
This study shows that dominant inheritance cannot play a role in the etiology of MRKH syndrome, as no further cases of MRKH syndrome occurred among any of the siblings. The study provides support for the view that the syndrome has a multifactorial pathogenesis. Siblings/relatives of MRKH patients sh...
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PMID: 18321894
PDF is available here.
PDF is available here.
Abstract
Congenital defects like myofibrillar dysplasia (splayleg), umbilical and inguinal hernias, cryptorchism, intersexes, and anal atresia occur relatively frequently in swine. On the other hand, some developmental anomalies like double monsters are very rare. The present paper reports a rare case of a c...
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PMID: 18547020
PDF is available here.
PDF is available here.
Pediatric Research (63)5 2008
Abstract
The most common congenital abnormalities involve the genitourinary system. These include hypospadias, in which the urethral opening develops in an improper position, and bladder exstrophy, in which the bladder develops on the outer surface of the abdomen. Children with these conditions will require...
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PMID: 18427303
PDF is available here.
PDF is available here.
Abstract
Clinical Radiology (63)4 2008
Abstract
The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial revie...
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PMID: 18325365
PDF is available here.
PDF is available here.
Abstract
Morphologically, the gubernaculum could be identified clearly, its structure inhomogeneous from proximal to distal and dissymmetric from right to left. The environmental estrogen produced different effects on the morphology of the gubernaculum in different parts and most obviously affected its lengt...
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PMID: 18488330
PDF is available here.
PDF is available here.
Nature Genetics (40)3 2008
Abstract
We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome...
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PMID: 18297069
PDF is available here.
PDF is available here.
Congenital Anomalies (48)1 2008
Abstract
We are fortunate to have local expertise in pelvic artery embolization and demonstrate excellent multidisciplinary management of a complex case....
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PMID: 18230122
PDF is available here.
PDF is available here.
Genes to Cells (13)2 2008
Reduced BMP4 abundance in Gata2 hypomorphic mutant mice result in uropathies resembling human CAKUT.
Abstract
We serendipitously discovered an essential contribution of GATA-2 to urogenital development when the hematopoietic deficiency of Gata2 null mutant animals was complemented by a Gata2 yeast artificial chromosome (YAC) transgene; these mice died from a perinatal lethal urogenital abnormality. Here, we...
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PMID: 18233958
PDF is available here.
PDF is available here.
Abstract
Fetal MRU can accurately diagnose a wide variety of urinary tract disorders and must be regarded as a valuable complementary tool to ultrasound in the assessment of the urinary system, particularly in cases of inconclusive ultrasound findings. The present study had a selection bias, as only fetuses...
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PMID: 18631889
PDF is available here.
PDF is available here.
Abstract
We report another case of beta-ureidopropionase deficiency who presented with congenital anomalies of the urogenital and colorectal systems and with normal neurodevelopmental milestones. Analysis of a urine sample, because of the suspicion of renal stones on ultrasound, showed strongly elevated leve...
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PMID: 17964839
PDF is available here.
PDF is available here.
Prenatal Diagnosis (28)2 2008
Abstract
Prenatal findings included an infraumbilical wall defect, omphalocele, no visible bladder and spinal defects. Abnormalities of the upper urinary tract were seen in all cases and ambiguous genitalia in four. Four women continued the pregnancy after prenatal counseling and these fetuses were liveborn...
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PMID: 18236426
PDF is available here.
PDF is available here.
Abstract
In Italy at least 3% of babies are born with some congenital malformation. The intake of folic acid (FA) prior to conception and during the early stages of pregnancy plays an important role in preventing neural tube defects, severe anomalies of brain embryogenesis, and other malformations such as ca...
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PMID: 19238877
PDF is available here.
PDF is available here.