Browse
Submit Data
Databases
API
Help

Dataset Information

8 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Incomplete transverse vesical septum: An unusual congenital anomaly.

ABSTRACT: A rare case of incomplete transverse vesical septum with urinary tract tuberculosis is being reported. A 52-year-old male presented with lower urinary tract and systemic symptoms. On investigation he had anemia, leucocytosis, and high serum creatinine. On cystopanendoscopy, there was a transverse ledge of tissue connecting the two lateral walls of the bladder approximately 4 cm proximal to the bladder neck dividing the caudal vesical cavity into anterior and posterior parts. Also, the left ureteric orifice had double barrel look. To our knowledge this is the first ever reported case of incomplete transverse vesical septum.

SUBMITTER: Taneja R

PROVIDER: S-EPMC3424898 | biostudies-other | 2012 Apr

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Incomplete transverse vesical septum: An unusual congenital anomaly.

Taneja Rajesh R Singh Dig Vijay DV

Indian journal of urology : IJU : journal of the Urological Society of India 20120401 2

A rare case of incomplete transverse vesical septum with urinary tract tuberculosis is being reported. A 52-year-old male presented with lower urinary tract and systemic symptoms. On investigation he had anemia, leucocytosis, and high serum creatinine. On cystopanendoscopy, there was a transverse ledge of tissue connecting the two lateral walls of the bladder approximately 4 cm proximal to the bladder neck dividing the caudal vesical cavity into anterior and posterior parts. Also, the left urete ...[more]

PMID: 22919137

Similar Datasets

Perineal ectopic testis: A rare congenital anomaly.

Project description:Perineal ectopic testis is a rare condition seen in less than 1% of all cases of undescended testis. In this study, we diagnosed a perineal ectopic testis in a 7-month-old physical examination. A solitary, oval mass on the lower and lateral side of the palpation right hemiscrotum was identified and this mass was defined as the correct testicle at the ultrasound of scrotal. Orchiopexy was performed following herniography, and the scrotum was attached to the scrotum using the dartos pouch technique. We believe that orchidopexy is the preferred treatment of choice.

| S-EPMC6562294 | biostudies-literature

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

Project description:We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible.

| S-EPMC5786149 | biostudies-literature

Unicuspid unicommissural aortic valve: an extremely rare congenital anomaly.

Project description:Unicuspid aortic valve is a rare congenital malformation that usually presents in the 3rd to 5th decade of life-and usually with severe aortic stenosis or regurgitation. It often requires surgical correction. Diagnosis can be made with 2- or 3-dimensional transthoracic or transesophageal echocardiography, cardiac computed tomography, or cardiac magnetic resonance imaging. We report the case of a 31-year-old man who presented with dyspnea on exertion due to severe aortic stenosis secondary to a unicuspid unicommissural aortic valve. After aortic valve replacement, this patient experienced complete heart block that required the placement of a permanent pacemaker.

| S-EPMC4473628 | biostudies-literature

Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly.

Project description:We made realistic, three-dimensional, computer-assisted 3-layered elastic models of the face. The surface layer is made of polyurethane, the intermediate layer is silicone, and the deep layer is salt, representing the skin, subcutaneous tissue, and the bone. We have applied these 3-layer models to congenital anomaly cases and have understood that these models have a lot of advantages for simulation surgery.MethodsWe made 8 models. The models consisted of 2 models of 2 cases with Crouzon disease, 1 model of Binder syndrome, 1 model of facial cleft, 2 models of one case with Goldenhar syndrome, 1 model of cleft lip and palate, and 1 model of the hemifacial macrosomia.ResultsWe could try several methods, could recognize whether the graft size is adequate, and could visualize the change of the facial contour. We could analyze how to approach the osteotomy line and actually perform osteotomy. The changes of the lower facial contour can be observed. We grafted the models of the graft and confirmed that the incisions could be closed well. We were able to visualize the change in the soft tissue contour by simulating distraction.ConclusionsThe most versatile merit of our models is that we could visualize the change of the soft tissue by movement of the hard tissue with bone graft, distraction osteogenesis, and so on. We must improve the model further to make it more realistic.

| S-EPMC7489633 | biostudies-literature

Risk factors for death in Welsh infants with a congenital anomaly

Project description:Objectives To investigate risk factors associated with death of infants with a congenital anomaly in Wales, UK. Design A population-based cohort study. Setting Data from the Welsh Congenital Anomaly Register and Information Service (CARIS) linked to live births and deaths from the Office for National Statistics. Patients All live births between 1998 and 2016 with a diagnosis of a congenital anomaly, which was defined as a structural, metabolic, endocrine or genetic defect, as well as rare disease of hereditary origin. Main outcome measures Adjusted ORs (aORs) were estimated for socio-demographic, maternal, infant and intervention factors associated with death in infancy, using logistic regression for all, isolated, multiple and cardiovascular anomalies. Results 30 424 live births affected by congenital anomalies were identified, including 1044 infants who died by the age of 1 year (infant mortality rate: 16.5 per 10 000 live births, case fatality: 3.4%, 30.3% of all infant deaths). Risk factors for infant death were non-white versus white ethnicity (aOR: 2.25; 95% CI: 1.77–2.86); parous versus nulliparous (aOR: 1.24; 95% CI: 1.08–1.41); smoking during pregnancy versus non-smokers/ex-smokers (aOR: 1.20; 95% CI: 1.02–1.40); preterm versus term birth (aOR: 4.38; 95% CI 3.86–4.98); female versus male infants (aOR: 1.28; 95% CI: 1.13–1.46) and the earlier years of the birth cohort (aOR: 0.96; 95% CI: 0.95–0.98 per yearly increase). Infants with a cardiovascular anomaly who received surgery had a lower odds of death than those who did not (aOR: 0.34; 95% CI: 0.15–0.75). Preterm birth was a significant factor for death for all anomalies but the effect of the other characteristics varied according to anomaly group. Conclusions Nearly a third of all infant deaths had an associated anomaly. Improving access to prenatal care, smoking cessation advice, optimising care for preterm infants and surgery may help lower the risk of infant death.

| S-EPMC8718467 | biostudies-literature

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.

Project description:AimsTo evaluate congenital anomaly (CA)-medication exposure associations produced by the new EUROmediCAT signal detection system and determine which require further investigation.MethodsData from 15 EUROCAT registries (1995-2011) with medication exposures at the chemical substance (5th level of Anatomic Therapeutic Chemical classification) and chemical subgroup (4th level) were analysed using a 50% false detection rate. After excluding antiepileptics, antidiabetics, antiasthmatics and SSRIs/psycholeptics already under investigation, 27 associations were evaluated. If evidence for a signal persisted after data validation, a literature review was conducted for prior evidence of human teratogenicity.ResultsThirteen out of 27 CA-medication exposure signals, based on 389 exposed cases, passed data validation. There was some prior evidence in the literature to support six signals (gastroschisis and levonorgestrel/ethinylestradiol (OR 4.10, 95% CI 1.70-8.53; congenital heart disease/pulmonary valve stenosis and nucleoside/tide reverse transcriptase inhibitors (OR 5.01, 95% CI 1.99-14.20/OR 28.20, 95% CI 4.63-122.24); complete absence of a limb and pregnen (4) derivatives (OR 6.60, 95% CI 1.70-22.93); hypospadias and pregnadien derivatives (OR 1.40, 95% CI 1.10-1.76); hypospadias and synthetic ovulation stimulants (OR 1.89, 95% CI 1.28-2.70). Antipropulsives produced a signal for syndactyly while the literature revealed a signal for hypospadias. There was no prior evidence to support the remaining six signals involving the ordinary salt combinations, propulsives, bulk-forming laxatives, hydrazinophthalazine derivatives, gonadotropin releasing hormone analogues and selective serotonin agonists.ConclusionSignals which strengthened prior evidence should be prioritized for further investigation, and independent evidence sought to confirm the remaining signals. Some chance associations are expected and confounding by indication is possible.

| S-EPMC5137835 | biostudies-literature

Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects.

Project description:Terminal transverse deficiency of forearm is a very rare limb malformation. Most of the cases have traumatic etiology and congenital presentation is less common. A series of six individuals with transverse deficiency through the hands is presented in this communication. The cases were congenital, morphologically similar and showed loss of four fingers, most often postaxial. The affected arm was reduced in size compared to the contralateral limb and there was distortion of palmer creases. All cases were sporadic and non-syndromic in nature. The characteristics of these cases were concordant with the symbrachydactyly type III or monodactylous type, when classified according to the scheme proposed by Blauth and Gekeler (1973). The malformation resulted in permanent quality-of-life impairment in these subjects and warrant prosthetic management. Detailed physical and phenotypic features of the patients have been presented.

| S-EPMC4859057 | biostudies-literature

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

Project description:To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation.Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was studied by pyrosequencing.We identified the first homozygous SALL1 mutation, c.3160C > T (p.R1054*), in 2 female siblings presenting with multiple congenital anomalies, central nervous system defects, cortical blindness, and absence of psychomotor development (ie, a novel recognizable, autosomal recessive MCA-MR). The mutant SALL1 transcript partially undergoes nonsense-mediated mRNA decay and is present at 43% of the normal transcript level in the fibroblasts of a healthy carrier.Previously heterozygous SALL1 mutations and deletions have been associated with dominantly inherited anal-renal-radial-ear developmental anomalies. We identified an allelic recessive SALL1-related MCA-MR. Our findings imply that quantity and quality of SALL1 transcript are important for SALL1 function and determine phenotype, and mode of inheritance, of allelic SALL1-related disorders. This novel MCA-MR emphasizes SALL1 function as critical for normal central nervous system development and warrants a detailed neurologic investigation in all individuals with SALL1 mutations.

| S-EPMC3757162 | biostudies-literature

Prominent Thebesian veins, a rare congenital coronary anomaly presenting as acute myocardial ischemia.

Project description:Persistent Thebesian veins with the appearance of multiple coronary artery microfistulas are a rare finding and little is known about their physiologic and clinical features. In addition, few reports have demonstrated the perfusion status of patients with Thebesian veins. We report a 75-year-old woman referred for non-ST-elevation myocardial infarction due to prominent Thebesian veins who displayed a perfusion defect in cardiac magnetic resonance imaging. <Learning objective: This case emphasizes that non-obstructive coronary arterial anomaly can lead to myocardial ischemia with angina symptoms and cardiac enzyme rise. Moreover, it provided the typical angiographic appearance of Thebesian vein network and image of myocardial perfusion defect induced by coronary steal.>.

| S-EPMC7125364 | biostudies-literature

Unusual Case of an Arterial Thoracic Outlet Syndrome due to Srb Anomaly.

Project description:A thoracic outlet syndrome (TOS) is caused by arterial or nervous obstruction because of skeletal or muscular anomalies and hypertrophies. Congenital rib anomalies occur with low incidences (0.15-0.31%), predominantly affect the right side and are normally diagnosed at a young age or remain asymptomatic throughout life. Here, we report on the unusual case of a 71-year-old female patient with subacute ischemia of the left arm due to a TOS resulting from Srb anomaly, a very rare congenital rib anomaly.

| S-EPMC4176067 | biostudies-other

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data