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D Dow

Publications and source records attributed to D Dow.

At least 19 recordsLinked to original sources
PubMed2000

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.

OBJECTIVES: Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients. METHODS: Eighty four patients with a single HAB (23 Dutch, 61 UK) and four with multiple HAB (two Dutch, two UK) were studied by direct sequencing of the coding region and quantitative Southern blotting. RESULTS: A VHL germline mutation was found in three of 69 (4.3%) single HAB patients aged 50 years or less (three of 84 (3.6%) total single HAB patients). A germline VHL mutation was detected in a 44 year old woman with a solitary cerebellar HAB, as well as in four clinically unaffected close relatives, and in two single HAB cases presenting at the ages of 29 and 36 years. Germline VHL mutations were detected in two of four cases with multiple HAB. CONCLUSIONS: Early detection of VHL disease is important to reduce morbidity and mortality and therefore we recommend that, in addition to conventional clinical and radiological investigations, VHL gene mutation analysis should be offered to all HAB patients younger than 50 years. HAB patients aged >50 years will have a lower a priori risk of VHL disease and further data are required to evaluate the role of routine molecular genetic investigations in late onset HAB cases. The failure to detect germline VHL mutations in some patients with multiple HAB may indicate the presence of somatic mosaicism or additional HAB susceptibility genes.

Adolescent↗
PubMed1998

Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing.

The homozygous oim/oim mouse, a model of moderate-to-severe human osteogenesis imperfecta, contains a G-nucleotide deletion in the Cola-2 gene (the murine pro alpha(I) collagen gene) that results in accumulation of alpha1(I) homotrimer collagen. Although these mice have a distinctive phenotype that includes multiple fractures and deformities, genotyping is necessary to distinguish them from their wildtype (+/+) and heterozygote (oim/+) littermates. In this study, the dye primer and dye terminator chemistry methods, in combination with automated direct DNA sequencing, were compared for accuracy and ease in genotyping. A total of 82 mice from 14 litters were bred and genotyped; this resulted in 18 +/+, 35 oim/+, and 29 oim/oim mice. The dye primer and dye terminator chemistry methods worked equally well for identification of the deletion mutation and thus the genotype of all of the mice. However, the dye terminator method was found to be superior on the basis of the reduced amount of sample handling and reduced quantity of reagent required.

Animals↗
PubMed1996

A general method for the detection of large CAG repeat expansions by fluorescent PCR.

The expansion of a tandemly repeated trinucleotide sequence, CAG, is the mutational mechanism for several human genetic diseases. We present a generally applicable PCR amplification method using a fluorescently labelled locus specific primer flanking the CAG repeat together with paired primers amplifying from multiple priming sites within the CAG repeat. Triplet repeat primed PCR (TP PCR) gives a characteristic ladder on the fluorescence trace enabling the rapid identification of large pathogenetic CAG repeats that cannot be amplified using flanking primers. We used our method to test a cohort of 183 people from myotonic dystrophy families including unaffected subjects and spouses. Eighty five clinically affected subjects with expanded alleles on Southern blot analysis were all correctly identified by TP PCR. This method is applicable for any human diseases involving CAG repeat expansions.

Child↗
PubMed1995

Bacteriology of urinary tract stones.

It has been reported that up to half of renal stones and associated urine specimens have been positive on culture, and that up to 50% of such stones contain magnesium ammonium phosphate. In a prospective study using infrared and wet chemical analysis, we found positive cultures in only 7 of 132 renal, 5 of 105 ureteral and 6 of 21 bladder stones obtained surgically and handled with sterility. Of the culture positive calculi only 43% from the kidney, none from the ureter and 50% from the bladder contained detectable magnesium ammonium phosphate. However, magnesium ammonium phosphate was detectable in 20% of renal, 2% of ureteral and 27% of bladder stones with negative cultures. Of the culture positive renal and ureteral calculi 42% were predominantly calcium phosphate and 17% were predominantly calcium oxalate. For culture negative stones 25% and 51% from the kidney, and 15% and 82% from the ureter were composed of predominantly calcium phosphate and calcium oxalate, respectively. Among the culture positive stones, related positive urine cultures were noted in 100% of the renal, 20% of the ureteral and 50% of the bladder cases, compared to 26%, 10% and 27%, respectively, of culture negative calculi. The same organism was found in the stone and urine in only 38% of the cases. The lower frequency of positive urine cultures, of stones with magnesium ammonium phosphate, and especially of culture positive renal and ureteral stones (5%) than in previous reports suggests that stone culture may be of less value than indicated previously, except for bladder calculi and large renal stones, such as the branched type.

Adult↗
PubMed1993

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.

cDNA clones from a human adult testis cDNA library were isolated and sequenced as part of a programme to produce expressed sequence tags (ESTs). ESTs were used routinely to search DNA and protein sequence databases. One clone (142) showed 60% identity to the Bacillus subtilis glycerol kinase gene at both the DNA and amino acid sequence levels. Analysis of DNA from somatic cell hybrids carrying deleted X chromosomes, has shown that clone 142 detects homologous sequences between Xp21.2-p22.1 (the interval containing the locus responsible for glycerol kinase deficiency--GKD). These sequences are deleted in two patients with GKD. Clone 142 also detects homologous sequences on Xq and at several autosomal loci. The sequences of clone 142 and two further cDNA clones isolated from a human foetal brain cDNA library are presented.

Amino Acid Sequence↗
PubMed1991

Comparison of patients with idiopathic calcium phosphate and calcium oxalate stones.

Our primary objective was to test the hypothesis that a defect in acidification is more common in patients who have idiopathic calcium phosphate kidney stones than in those whose stones are formed mainly of calcium oxalate. Additionally, other risk factors might differ for these 2 stone types. Urine pH was measured serially over 24 hours, and along with ammonium and titratable acid, it was measured before and serially after ingestion of ammonium chloride in 3 groups of subjects: 24 patients with predominantly calcium phosphate stones, 30 patients with calcium oxalate stones, and 15 health non-stone-formers. Twenty-six parameters potentially related to stone formation and acidification were assayed on urines collected over 24 hours, and 15 parameters on blood. The data base was a computerized list of 5900 analyses of stones from patients living in Newfoundland. Patients not known by their physician to have had urinary tract infection, anatomical abnormality, hyperparathyroidism, or renal tubular acidosis were asked to participate in the study. Differences between means were considered significant if p values were less than 0.05 for F by analysis of variance and also less than 0.01 by t-test. In all patients with calcium oxalate stones and all non-stone-formers, urine acidified to pH less than 5.25, but in 8 of the 23 phosphate stone formers who completed the ammonium chloride study urine failed to acidify to pH less than 5.25. As all 8 had normal values for venous pH, total CO2, and chloride, they were considered to have incomplete renal tubular acidosis (IRTA). The 8 phosphate stone formers with IRTA had greater mean values for urine pH on all 9 specimens collected serially over 24 hours (all means greater than 6.2), and after administration of ammonium chloride (p less than 0.01), as well as lower mean values for urine titratable acid excretion (p less than 0.01), both after administration of ammonium chloride and in 24-hour urine samples, compared with the remaining phosphate stone formers whose urine acidified and the oxalate and non-stone-forming control groups. Nearly all the phosphate stone formers had 1 or more risk factors for stone formation, but with frequencies not significantly higher than those found in the oxalate group. Hypercalciuria and hypocitruria were the commonest, but increased oxalate or urate also occurred. Thus, idiopathic calcium phosphate stone formation can be associated with 1 or more of several risk factors, and, with the possible exception of those with IRTA, treatment should be similar to that given to patients with calcium oxalate stones.

Acidosis, Renal Tubular↗
PubMed1985

Eosinophilic cystitis: pleomorphic manifestations.

Because eosinophilic cystitis is rare, the authors present two cases of this inflammatory condition. In one, eosinophilic ureteritis presented as ureteral obstruction; this is only the second such case to be reported. The literature on eosinophilic cystitis is reviewed. The condition affects people of all ages and its cause is unknown. The clinical presentation varies, but hematuria is a constant feature with urinary frequency and dysuria being common. Management is also variable, ranging from treatment for symptoms only to aggressive surgical therapy.

Adult↗
PubMed1984

Unusual snowmobile injury of the penis: a case report.

Snowmobiles have been responsible for a variety of characteristic injuries. The authors report a most unusual injury--degloving of the penis. A 49-year-old man was thrown against the handlebars of his machine. The penis was traumatically circumcised, degloved and forced through the subcutaneous peritoneal tissue to exit through a gash in the left thigh. At operation, the area was debrided and irrigated. The penis was easily returned to its normal position, into the intact but detached penile skin which was then sutured in place.

Accidents↗
PubMed1984

Retroperitoneal fibrosis.

Retroperitoneal fibrosis is a rare disease but is important surgically because it can produce ureteral obstruction and renal failure. A wide variety of inflammatory, infective and neoplastic conditions can result in secondary retroperitoneal fibrosis and it is essential to look carefully for an underlying neoplastic condition in all cases of retroperitoneal fibrosis. Idiopathic retroperitoneal fibrosis occurs predominantly in men and results in some form of renal failure in 75% of patients. The classic triad of medial deviation of ureters, ureteral narrowing at L4-5 and proximal hydronephrosis is usually seen in high-dose intravenous pyelograms and the ease of retrograde ureteral catheterization is often diagnostic. Management depends on the degree of renal impairment, with laparotomy, multiple biopsies and ureterolysis being the treatment of choice. Steroids are beneficial, if used early, and the prognosis is excellent if there is no underlying malignant condition.

Humans↗
PubMed1983

Urologic manifestations of Laurence-Moon-Biedl syndrome.

Although uremia is the major cause of death in more than 30 per cent of patients with Laurence-Moon-Biedl syndrome, little attention has been paid to this rare syndrome in the urologic literature. We herein report on 3 patients with this syndrome.

Adolescent↗
PubMed1983

Transitional cell carcinoma in a urethral diverticulum with a calculus.

About 38 cases of carcinoma in a female urethral diverticulum have been reported previously. We report the first case of a transitional cell carcinoma arising in a female urethral diverticulum containing a calculus. The clinical features mimic a simple urethral diverticulum with a calculus and if biopsies are not done routinely a tumor can be missed easily.

Carcinoma, Transitional Cell↗
PubMed1980

Uterine prolapse and renal dysfunction.

We report 2 cases of complete uterine prolapse and bilateral severe hydronephrosis. Although vaginal hysterectomy corrected the obstruction the development of post-obstruction atrophy was associated with hypertension and moderate renal failure. Early diagnosis and correction are required to prevent these sequelae.

Aged↗
PubMed1975

Trimethorpim-sulfamethoxazole in the treatment of chronic prostatitis.

Chronic prostatis is a common condition for which evidence of bacterial etiology is often lacking, possibly because of difficulty in obtaining secretion from the diseased portion of the gland. Aids to diagnosis apart from bacteriologic studies are of little value. It has been shown that trimethoprim reaches high levels in the prostatic fluid and when combined with sulfamethoxazole provides a highly effective antibacterial agent. In a survey of 40 patients with chronic prostatitis treated with TMP-SMX the usefulness of the combination was demonstrated.

Administration, Oral↗
PubMed1970

Prostatic contribution to normal serum acid phosphatase.

Total and tartrate-labile serum acid phosphatase levels were compared in patients with and without prostates, and in 12 patients before and after cystoprostatectomy. Absence of the prostate seems to make no significant difference to the levels of serum acid phosphatase. There is no justification for referring to the tartrate-labile serum acid phosphatase as "prostatic acid phosphatase." A substantial incidence of marginally raised levels of serum acid phosphatase in each group of patients suggests that the upper limit of normal for the total serum acid phosphatase should be taken as 5 K.A.u.

Acid Phosphatase↗