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Results for “Urogenital Abnormalities”

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At least 19 recordsLinked to original sources
PubMed1993

Abnormal aorta and iliac arteries in children with urogenital abnormalities.

Retroiliac ureters have been found in association with a variety of urogenital abnormalities but the iliac artery usually retains a retroperitoneal position. We report 7 children with various urogenital abnormalities (cloacal malformation 4, bladder agenesis 1, urogenital sinus 1, neuropathic bladder 1) in whom the lower aorta and iliac arteries were so distorted as to pose a significant operative hazard. In all cases the distal aorta and/or iliac arteries lay within the peritoneal cavity, often anterior to the bladder. In 3 cases the aorta was fixed by a short ligament to the umbilicus, and in 3 patients one of the iliac arteries ran across the pelvis behind the pubic bones before entering the leg. In one patient an anomalous iliac artery was inadvertently divided during reconstruction of a cloaca; when recognized, the vessel was rejoined. Recognition of an association between urogenital or cloacal malformations and a major vascular anomaly is of great importance to reconstructive surgeons who, if not forewarned, could unintentionally compromise the arterial supply to one or both lower limbs.

Abnormalities, Multiple↗
PubMed1998

Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.

Monozygotic male twins and an unrelated boy are described who have an unusual association of malformations, i.e. craniosynostosis of the sagittal suture, a cardiac malformation, urogenital anomalies, intestinal malformations and a single umbilical artery. The twins are discordant for these features, except for Hirschsprung disease. No similar cases could be traced in literature. The possible genetic background is discussed.

Abnormalities, Multiple↗
PubMed1975

Gentics of urogenital abnormalities in ACI inbread rats.

The frequency of urogenital abnormalities in adult ACI rats was 18.8%. These abnormalities consisted of a spectrum of defects ranging from focal aplasia of the ureter to the complete absence of the ureter, kidney, and tubular genital tract on the affected side. When ACI rats with normal urogenital tracts tracts were crossed with F344 rats the frequency of the defects decreased to a constant level in the F1, F2, and F3 generations. There was no clearly significant decrease in the frequency of the defects in the backcross offspring of (ACI times F344)F1 times ACI matings, but there was a significant and dramatic decrease in the backcross to F344 rats. Attempts to select against these defects by brother-sister matings among normal ACI rats were not successful: 5 generations of inbreeding did not alter the frequency of the urogenital abnormalities. The frequency of the abnormalities was the same in the offspring of affected parents as in the offspring of normal parents, indicating homozygosity of the factors responsible for the defects. The results suggest that the transmission of these defects is polygenic.

Animals↗
PubMed1991

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Denys-Drash syndrome is a rare human condition in which severe urogenital aberrations result in renal failure, pseudohermaphroditism, and Wilms' tumor (nephroblastoma). To investigate its possible role, we have analyzed the coding exons of the Wilms' tumor suppressor gene (WT1) for germline mutations. In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found. Nine of these mutations are found within exon 9 (zinc finger III); the remaining mutation is in exon 8 (zinc finger II). These mutations directly affect DNA sequence recognition. In two families analyzed, the mutations were shown to arise de novo. Wilms' tumors from three individuals and one juvenile granulosa cell tumor demonstrate reduction to homozygosity for the mutated WT1 allele. Our results provide evidence of a direct role for WT1 in Denys-Drash syndrome and thus urogenital system development.

Acute Kidney Injury↗
PubMed1977

Abnormal urogenital organs occurring spontaneously in inbred ACI and Kyoto-notched rats.

Spontaneous malformations of urogenital organs found in inbred rat foetuses of ACI/NHok strains were further investigated with a postnatal survey involving other inbred strains. A new type of malformation occurred in Kyoto-notched rats. The present findings suggested that the malformations have different hereditary characteristics caused by different maldevelopmental mechanisms and are probably due to recessive polygenes.

Animals↗
PubMed1996

Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.

The nature and the origin of de novo small marker chromosome found at prenatal diagnosis were determined by fluorescence in situ hybridization (FISH) using chromosome centromere-specific probes and by chromosome in situ suppression (CISS) using chromosome specific libraries. The small marker was characterized as being derived from chromosome 22. The fetus which exhibited a minichromosome had kidney malformations and after birth showed clinical features consistent with the Duane anomaly. One previous case with Duane anomaly and abnormalities of urogenital tract associated to a bisatellitated marker derived from chromosome 22 was reported. These findings indicate that a gene or genes located in the region of chromosome 22pter-->q11 may be associated with the Duane anomaly and the development of the urogenital tract.

Adult↗
PubMed2006

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Mutations in ATRX are associated with a wide and clinically heterogeneous spectrum of X-linked mental retardation syndromes. The ATRX protein, involved in chromatin remodelling, belongs to the family of SWI/SNF DNA helicases and contains a plant homeodomain (PHD)-like domain. To date, more than 60 different mutations have been reported in ATRX. One of them is recurrent and accounts for 20% of all the reported mutations, whereas all others are private. Most mutations are clustered in the two major functional domains, the helicase and the PHD-like domain. So far, no clear genotype-phenotype correlation has been established, with exception to the rare truncating mutations located at the C-terminal part of the protein, which are consistently associated with severe urogenital defects. In this study, we report the molecular analysis performed in 16 families positive for ATRX. Our findings indicate that, in addition to the previously described mutation 'hotspot' in the PHD-like domain, two other protein sections emerge as minor 'hotspots' in the helicase region encoded by exons 18-20 and 26-29, respectively, gathering 33% of all described mutations. Additionally, based on the clinical data collected for 22 patients from the 16 families, we observe that mutations in the PHD-like domain produce severe and permanent psychomotor deficiency, usually preventing patients from walking, as well as constant urogenital abnormalities, while mutations in the helicase domain lead to delayed but correct psychomotor acquisitions together with mild or absent urogenital abnormalities. In summary, mutations in the helicase domain are associated with milder phenotypes than mutations in the PHD-like domain.

DNA Helicases↗
PubMed1998

Prenatal diagnosis of fetal urogenital abnormalities with oligohydramnios by magnetic resonance imaging using turbo spin echo technique.

Turbo spin echo technique is a sequence that enables T2 weighted magnetic resonance (MR) images to be obtained in a few seconds. The purpose of this study is to evaluate the usefulness of this sequence in the prenatal diagnosis of fetal urogenital abnormalities associated with oligohydramnios, which make the ultrasound examination inconclusive. Two fetuses suspected of having prune belly syndrome and polycystic kidney on ultrasound examination were studied by MR imaging using turbo-spin echo method in utero. The images were compared with prenatal ultrasonography or post-mortem findings. In both fetuses, abnormalities were diagnosed correctly. This sequence is useful because it provides images of diagnostic quality in a very short scanning time.

Adult↗
PubMed1990

[Urogenital abnormalities associated with anorectal malformations].

The authors presented various data with respect to the frequency (431 cases) of anorectal malformations associated to urogenital abnormalities (26 to 56%). They also indicated the frequent association of these anomalies with a lumbosacral vertebral malformation (28%). The higher the anomaly, the more serious the condition.

Abnormalities, Multiple↗
PubMedDate not supplied

[Urogenital abnormalities and atresia of the gastrointestinal tract].

INTRODUCTION: The goal of the study was to ivestigate the frequency of urogenital congenital abnormalities among atresias of the digestive system and analyze fetal maldevelopment. The study also deals with gastrointestinal and urogenital embryology. MATERIAL AND METHODS: This retrospektive study analyzed the clinical status of 55 newborns admitted to the Pediatric Surgery Clinic in Novi Sad due to atresia of the gastrointestinal tract during 1995-2003. All atresias were classified at primordial gut levels (foregut, midgut and hindgut). The incidence of associated abnormalities, especially urogenital, was analyzed. Diagnostic procedures included standard methods: clinical investigation, ultrasound, native and contrast medium radiography, etc. RESULTS: Results showed that urogenital anomalies were present in 21 (38.18%) newborns with gastrointestinal atresia. Foregut atresia was diagnosed in 14 newborns and it was associated with urogenital congenital anomalies in 9 (64.28%) newborns. Midgut atresias were found in 15 patients and in 4 (22.22/%) they were associated with urogenital anomalies. Hindgut atresias were established in 23 and in 8 (34. 78%) cases they were associated with urogenital anomalies. DISCUSSION AND CONCLUSIONS: It was confirmed that foregut atresias ara commonly accompanied by associated abnormalities. That is why the fourth gestational week is important when both gastrointestinal and urogenital systems are developed. When midgut differentiates into its own derivates, the frequency of congenital anomalies decreases for a short period, and then increases again during foregut development (seventh and eighth gestational weeks). There were no information on environmental teratogenic factors in maternal history. These abnormalities may be explained by complex urorectal development and separation of two systems.

Abnormalities, Multiple↗