Type II ureteral triplication associated with ectopic ureter

We report a case of type II ureteral triplication associated with ectopic ureter. The ureter, draining the upper renal segment, entered the vagina, and the other two ureters, draining the middle and lower renal segments, had joined and entered the bladder. The anatomic findings are compatible with those predicted by the Weigert-Meyer law. A thorough evaluation of such an anomaly is essential for effective management.     

Intrachromosomal triplication of 15q11-q13

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.     

Ureteral occlusion prosthesis

The improving survival rate of patients with childhood cancer has led to a growing awareness of the long-term effects of malignant disease and its treatment. Various endocrine abnormalities have been reported as frequent long-term adverse effects of cancer treatment in childhood, and among these growth hormone (GH) deficiency is the most common one, especially after cranial irradiation. Besides promoting growth, GH has well-established metabolic effects. Patients with GH deficiency tend to be obese, and obesity per se is also associated with insulin resistance which plays a key role in a cluster of metabolic derangements including glucose intolerance, hypertension, lipid abnormalities and atherosclerotic cardiovascular disease. This condition is known as the metabolic syndrome. Our recent observations indicate that a combination of obesity, glucose intolerance, hyperinsulinaemia and an abnormal lipid profile can be observed in long-term survivors of childhood cancer. Every sixth patient had the triad of obesity, hyperinsulinaemia and low HDL cholesterol, whereas this combination was not seen in any of the controls. The survivors with such a high-risk profile for cardiovascular disease had markedly reduced spontaneous GH secretion, and also additional features of the metabolic syndrome, such as higher systolic blood pressure and higher plasma glucose and serum triglyceride levels. Accordingly, decreased GH secretion, or alternatively some other disturbance in the hypothalamic-pituitary axis, emerging as a consequence of cranial radiation, may expose long-term survivors of childhood cancer to premature evolution of the metabolic syndrome. This can have an important impact on the long-term prognosis in these patients, because the syndrome as such results in an increased risk of cardiovascular morbidity and mortality.     

Ureteral injury during appendectomy

A case is described of a patient whose right upper ureter had been injured during appendectomy. The defect was too long so we performed ileal substitution for ureter.     

What diagnosis? Ureteral pseudodiverticulosis

We performed percutaneous A1 pulley release on 34 trigger fingers in 30 patients with an angiocath needle. Complete release was achieved in all fingers. There were no complications and no recurrences during mean 0.5 (1-2) years follow-up.     

Ureteral fibroepithelial polyps in children

Fibroepithelial polyps of the ureter presenting as pelviureteric junction (PUJ) obstruction in two boys are reported. These neoplasms are uncommon, especially in children. Surgical excision of the PUJ with the polyp and dismembered pyeloplasty was performed in each case. Postoperative recoveries were uneventful.     

Ureteral decompression in advanced nonurologic malignancies

Development of screening tests for hepatitis C virus (HCV) has enabled study to ascertain hypotheses concerning the epidemiology of non-A, non-B hepatitis. Phylogenic analysis shows that HCV genotypes 1, 2, and 3 are responsible for most cases of chronic hepatitis C in developing countries whereas genotypes 4, 5, and 6 are involved in other areas of the world. Our understanding of the transmission of this virus is also improving and transfusion and addiction-related transmission have now been confirmed. However many questions remain about other routes involving sex, intrafamilial contact, and mother-to-infant transmission. After transfusion there is a period of serological latency during which infection cannot be detected by PCR and which raises the problem of post-transfusion seronegative hepatitis. Current knowledge of the natural history of the disease is limited to the chronic hepatitis stage. New methods must be developed to detect and study the disease in cohorts with early stage disease. Since knowledge about worldwide prevalence is also limited, further studies are needed in the general population in different geographical areas taking into account the fact that southern and eastern Europe, Japan, and Black Africa are high prevalence zones with rates above 1.5%.     

Ureteral hydronephrosis secondary to appendicular abscess

OBJECTIVE: To report a case of ureterohydronephrosis secondary to an undiagnosed appendiceal abscess. METHODS/RESULTS: Herein we describe a case of a 4-year-old girl with right ureterohydronephrosis arising from extrinsic compression of the right ureter due to an undiagnosed appendiceal abscess. The patient was treated with intravenous antibiotics and the abscess was drained. Regular isotope and US assessments showed both the residual retroperitoneal fibrosis and renoureteral dilation had decreased. CONCLUSIONS: Acute appendicitis is still the most common cause of emergency abdominal operations in children. Although the symptoms are easily recognizable and generally lead to the correct diagnosis in most cases, the peculiarities of childhood can lead to errors in the diagnosis resulting in the complications reported herein. We emphasize the usefulness of ultrasound in the diagnosis and conservative treatment is advocated.     

Studies on fetal hemoglobin and gamma globin gene triplication in newborns in Jordan

Quantitation of fetal hemoglobin (Hb F) and quantitation of it's gamma chain composition is important for the identification of different hemoglobinopathies. This is the first study done on the Jordanian newborns to test the hematological data and the gamma globin chain variants. A total of 52 randomly selected healthy Jordanian newborns were examined. The quantitation of the G gamma and A gamma chains combined with gene mapping using XmnI digestion, were used in the identification of one case of G gamma triplication among the studied samples. A family study of this case showed that adults carrying one copy of this G gamma triplication (13Kb XmnI fragment) had normal levels of HbF (< 1%) and high levels of G gamma (> 80%) while no homozygotes were detected. The remaining 51 newborns had normal frequency values of G gamma and A gamma chains. The frequency of the A gamma T chain among the 52 samples was 0.22. No abnormal alpha or beta chain variants were detected except for one case of HbS.     

Association of alpha and beta thalassemia with alpha gene triplication in one family

We describe the haematological data and molecular results of a native family from Cádiz in that one is produced the a within heterozygous beta 0 thalassaemia (IVS-1, nt 1-G-->A), heterozygous alpha+ thalassaemia (-alpha 3.7) and alpha gene triplication (alpha alpha alpha 3.7). PATIENTS AND METHODS) We are studied 7 members to a family composed by father (I1), mother (I2) and five children (II1, II2, II3, II4, II5). The molecular biology study of the alpha gene was realized by Southern blot method using the restriction enzymes Bam HI, Bgl II and Eco RI and hybridized with alpha probe of the plasmid PRB 1 (fragment of 1.5 Kb digested with the enzyme Pst I). The genes were studied by the technique of the polymerase chain reaction (PCR), modified according to designated method "Amplification Refractory Mutation System" (ARMS). RESULTS: The father (I1) presents an interaction of therozygous beta 0 thalassaemia with heterozygous alpha + thalassaemia (beta 0/beta 1;alpha alpha/-alpha 3). The mother (I2) shows an alpha gene triplication (beta A/beta A: alpha alpha alpha 3.7/alpha alpha). Finally the children are expressed 5 possibilities: II4 he is normal (beta A/beta A; alpha alpha/alpha alpha), II2 he has alpha gene triplication (beta A/beta A; alpha alpha/alpha alpha alpha 3.7), II3 he has heterozygous beta 0 thalassaemia (beta 0/beta A; alpha alpha/alpha alpha), II5 he has interaction between heterozygous beta 0 thalassaemia and heterozygous alpha gene triplication (beta 0/beta A; alpha alpha alpha 3.7/alpha alpha) and II1 presents an interaction between a heterozygous beta 0 thalassaemia and together with the lost of one alpha gene in one chromosome he also presents a alpha gene triplication in other one (beta o/beta A; alpha alpha/alpha alpha). The hematological data of II5 corresponds to a intermediate thalassemia with not transfusion dependent feature an opposite to II1 that presents a heterozygous thalassemic trait features with 4 alpha genes. DISCUSSION: The phenotypical expression of the different interactions of these mutations in this family, points out, the relevant role that the unbalance globins chains plays in the pathogenesis and development of the clinical manifestations of the patients with the thalassaemia syndromes.     

An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse

Wallerian degeneration is the degeneration of the distal stump of an injured axon. It normally occurs over a time course of around 24 hr but it is delayed in the slow Wallerian degeneration mutant mouse (C57BL/Wlds) for up to 3 weeks. The gene, which protects from rapid Wallerian degeneration, Wld, previously has been mapped to distal chromosome 4. This paper reports the fine genetic mapping of the Wld locus, the generation of a 1.4-Mb bacterial artificial chromosome and P1 artificial chromosome contig, and the identification of an 85-kb tandem triplication mapping within the candidate region. The mutation is unique to C57BL/Wlds among 36 strains tested and therefore is a strong candidate for the mutation that leads to delayed Wallerian degeneration. There are very few reports of tandem triplications in a vertebrate and no evidence for a mutation mechanism so this unusual mutation was characterized in more detail. Sequence analysis of the boundaries of the repeat unit revealed a minisatellite array at the distal boundary and a matching 8-bp sequence at the proximal boundary. This finding suggests that recombination between short homologous sequences ("illegitimate" or "nonhomologous" recombination) was involved in the rearrangement. In addition, a duplication allele was identified in two Wlds mice, indicating some instability in the repeat copy number and suggesting that the triplication arose from a duplication by unequal crossing over.     

Ureteral stent displacement associated with deep massage

A 51 year-old woman with a history of ureteral stenosis and calculi noted recurrence of severe left flank pain while undergoing a deep body massage using the Rolfing method. Displacement of her left ureteral double J stent was noted in the emergency department. The pain and associated incontinence resolved with restoration of the stent to its original position. Practitioners should be aware of this potential complication related to forceful massage pressures.     

Ureteral obstruction due to primary localized amyloidosis

Localized amyloidosis of the ureter is a rare condition. There are only 27 cases reported. Because of the difficulty in differentiating between localized amyloidosis or other benign conditions and a malignant tumor many cases have led to nephroureterectomy. We report a case of a middle aged woman who had an almost complete obstruction of the right ureter caused by amyloidosis. Biopsies were taken via a ureteroscope prior to exploration of the ureter enabling the patient to be treated with local excision and ureteroneocystostomy instead of nephroureterectomy.     

Ureteral lesions after abdomino-perineal resection of the rectum

Three ureter lesions in abdominoperineal rectum amputations are described. The surgical literature on this subject is discussed. Particularly dangerous points in the procedure of abdominoperineal rectum amputation concerning injuries of the ureter are accentuated. Possibilities of avoiding and recognizing early ureter injuries are indicated. More attention should be given to intraoperative lesions of the ureter.     

Ureteral stricture formation after removal of impacted calculi

PURPOSE: We retrospectively evaluated the records of 21 patients a mean of 46.1 years old with ureteral stones that had been impacted for greater than 2 months to determine predisposing factors for stricture formation. MATERIALS AND METHODS: Between January 1993 and September 1996, 21 patients were referred for ureteral stones that had remained unchanged in location for at least 2 months. In 11 patients previous attempts at stone removal had failed. Each patient underwent successful stone extraction by retrograde or percutaneous antegrade ureteroscopy, or laparoscopic or open ureterolithotomy. Outcome was determined by reviewing the clinical records and radiographic studies, including excretory urography and nephrostography. RESULTS: Average duration of stone impaction before definitive treatment was 8.8 months (range 2 to 48) and mean stone size was 10.3 mm. (range 1 to 30). All stones were calcium based. There were 3 proximal, 8 mid and 10 distal ureteral calculi. At a mean followup of 7 months ureteral strictures developed in 5 patients (24%) at the previous stone site. Mean duration of stone impaction was 11 months (range 5 to 17) in patients with stricture versus 8.2 months (range 2 to 48) in those with no stricture. Four of the 5 strictures occurred in patients who had had iatrogenic ureteral perforation during previous unsuccessful attempts at stone removal. CONCLUSIONS: Ureteral stone impaction more than 2 months in duration is associated with a 24% incidence of stricture formation. Ureteral perforation at the site of the stone was identified as the primary risk factor for stricture formation in these cases.     

Ureteral obstruction secondary to inflammatory iliac aneurysm]

BACKGROUND: The aim of the current study was to evaluate the prevalence of lactose malabsorption (LM) in Galicia (NW Spain) in order to design nutritional intervention and/or public education strategies for high risk groups. METHODS: We conducted a study of LM by breath-hydrogen carbohydrate absorption test (BH2 test) in 850 healthy subjects. All subjects underwent BH2 tests following ingestion of a aqueous solution of 2 g lactose/kg body weight up to a maximum of 50 g. Subjects with LM were retested after ingesting 250 ml of milk and/or 250 ml of yogurt. RESULTS: The frequency of LM in the subjects who ingested 2 g lactose/kg body weight was 32.5%. This percentage decreased significantly with a decrease in the quantity of administered lactose and the vehicle was milk or yogurt-only 13.7% was LM after 250 ml of milk and 3.8% after 250 ml of yogurt. Gastrointestinal symptoms also depend on dosage of lactose and vehicle, decreasing from 54.3% after 2 g lactose/kg to 18.5% after milk and to 0% after yogurt. The frequency and number of gastrointestinal symptoms were significantly higher (p < 0.001) in LM than in lactose absorption (LA). CONCLUSIONS: Lactose malabsorption is prevalent in the population of Galicia. An important number of subjects identified as LM with usual clinical testing become LA when the ingestion of dairy products is limited so that the amount of lactose consumed is similar to that contained in a usual serving. Our results suggest the importance of BH2 testing following ingestion of usual consumed amounts of lactose per serving.     

Ureteral endometriosis. Role of endourology and treatment

Ureteral endometriosis is remarkable not for its frequency, but for the renal compromise it may cause. Because it is silent, diagnosis is established late. An abdominal ultrasound scan permits early diagnosis of the obstructive uropathy. Currently, ureteral stricture can be treated conservatively. In well selected cases, endourological techniques combined with hormone therapy can be an alternative to open surgery.