Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For the radiologic diagnosis of mega-ureter the degree of filling of the bladder (bladder-phenomenon) in the IVP has to be considered. A film, after emptying the bladder, prevents mistaken diagnosis. In order to prove reflux a micturition cystogram will always have to be done. The diuretic effect of the contrast medium has to be taken into account. For a differential diagnosis mega-ureter has to be distinguished from functional distension (hypotonia) in the presence of infection or increased diuresis.
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PMID:[Radiologic diagnosis of mega-ureter in childhood (author's transl)]. 118 62

We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter. An EEG showed spike waves in the right temporal area. The patient appeared to have normal internal and external genitalia of the female type. Both ovaries were dysplastic. The karyotype was 46,XY. All of 26 loci on the Y chromosome were positive including SRY, a candidate gene for TDF.
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PMID:Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. 139 79

We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.
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PMID:De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter). 192 Mar 71

Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked head lag. Family studies confirmed the X-linked mode of inheritance of the disease; in case 1 the disease appeared to have arisen as a new mutation in the mother, and in case 2 the carrier status was traced back to the great-grandmother. Pitfalls in the diagnosis and detection of the carriers are discussed. Treatment with thiazide diuretics and prostaglandin synthesis inhibitors is effective in reducing urine volumes and polydipsia. The early detection of the disease and adequate management may prevent such complications as megacystis, mega-ureter and hydronephrosis, with resulting renal failure. Mental and physical retardation may also be avoided.
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PMID:Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. 373 62

We describe two boys with the cerebro-costo-mandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ribs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterior rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports describe horizontal and two describe vertical transmission of CCMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance. Inter- and intrafamilial expression is variable. Careful family studies are necessary before genetic counseling is given.
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PMID:Cerebro-costo-mandibular syndrome. 888 89

We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. The brother also had Duane syndrome type II and an ectopic right ureter. The coexistence of these multiple physical and brain abnormalities in a brother and sister suggests a new autosomal recessive syndrome with a slowly progressive course.
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PMID:Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. 940 70

Potentialities of x-ray endoscopic diagnosis and treatment of upper urinary tracts (UUT) obliterations were studied in 26 and 21 patients, respectively. The causes of obliteration were previous urological, surgical, gynecological operations, radiotherapy (one case). Percutaneous or transurethral UUT recanalization was performed in 5 and 16 patients, respectively. The length of the obliteration varied from 0.3 to 1.7 cm. It was located at the level of ureteropelvic segment in 13(62%), in the upper third of the ureter in 4(19%) and in the lower third of the ureter in 4(19%) patients. UUT endoscopic recanalization was successfully performed in 17(81%) patients. The operation took 60-90 minutes. Minor complications were corrected conservatively. Control examination was made after 6 to 15 years follow-up. The result was assessed as positive in the absence of clinical symptoms, recurrent stricture(obliteration), in improvement or no change in renal function. These criteria were met in 14(66.7%) patients. One patient has undergone nephrectomy because of highly deficient renal function and dislocation of the nitinol spiral outside recanalization zone. Two patients live with drained kidney in spite of UUT restored patency. The method proved effective and can be used as first-line therapy in short obliteration (< 1 cm), relatively intact renal function and in the absence of UUT marked hypotonia, more so as the failure does not complicate further surgery. Combined x-ray endoscopic diagnosis is presently most significant in determination of complete stricture(obliteration) of ureteropelvic segment and the ureter, its length and location.
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PMID:[Radiographic-endoscopic diagnosis and treatment of obliterations of the upper urinary tract]. 1139 25