Search PubMed⌕ Search

Biomedical subjects

C Bartram

Publications and source records attributed to C Bartram.

At least 37 records · Page 2Linked to original sources
PubMed1996

Enterocele revealed by simultaneous evacuation proctography and peritoneography: does "defecation block" exist?

OBJECTIVE: Pelvic floor weakness may allow prolapse of the bowel into the rectogenital space, forming an enterocele. Enteroceles are believed to obstruct defecation by rectal compression and are therefore considered an abnormal finding on evacuation proctography. With a technique combine evacuation proctography and peritoneography, we prospectively studied constipated patients to reveal the pelvic peritoneal recesses during evacuation and to determine if enterocele actually impairs rectal emptying. SUBJECTS AND METHODS: Fifty constipated patients were studied prospectively, Using 20 ml of water-soluble contrast medium, we performed peritoneography, then evacuation protography with 120 ml of intrarectal paste. Lateral evacuation and posteroanterior stress views were analyzed by computerized video capture. Anatomic features and functional measurements of rectal emptying were noted. Posteroanterior views were compared with views in 31 subjects undergoing peritoneography for investigation of groin pain. RESULTS: Technical failure in three patients left 47 for analysis. A deep rectogenital pouch was seen in 36 patients (77%). Of these, 12 (58%) contained viscera that formed an enterocele, but the remaining 15 patients (42%) showed no visceral filling. Most pouches were apparent only during straining (31 cases, 86%). Peritoneal descent was greater than in controls (p < .0001), of whom only three had small rectogenital pouches. Patients with enterocele were compared with those who had a rectogenital pouch but no visceral filling and those who had no pouch. Standard anatomic measurements by evacuation proctography were not significantly different, but patients with enterocele evacuated more rapidly (p = .008) and completely (p = .021) than did the other two groups. CONCLUSION: Combined evacuation proctography and peritoneography is a new technique to diagnose pelvic hernias that occur during evacuation. This technique has shown that a deep rectogenital pouch is common in constipated patients and that just over half such pouches fill with viscera. However, because an enterocele does not impair rectal evacuation, this proctographic finding should be interpreted with caution.

Adolescent↗
PubMed1996

Comparative effects on bone mineral density of tibolone, transdermal estrogen and oral estrogen/progestogen therapy in postmenopausal women.

The aim of the study was to assess the comparative effects on bone mineral density (BMD) in routine clinical practice of tibolone and estrogen (given either unopposed or combined with cyclical progestogen) in postmenopausal women who had not previously received estrogen or other menopausal therapy. BMD was measured in the spine and hip by dual energy X-ray absorptiometry (DEXA) at 12-month intervals over 3 years in 82 consecutive postmenopausal women referred for climacteric therapy. Of these, 35 women received tibolone, 24 transdermal estradiol alone and 12 conjugated equine estrogens together with cyclical progestogen; 11 received no therapy other than calcium. BMD increased significantly in the spine in those taking tibolone over 3 years (p < 0.0001 at 1 year; p < 0.0001 at 2 years; and p = 0.03 at 3 years). In those treated with conjugated equine estrogens and cyclical progestogen, BMD in the spine also increased significantly over the first 2 years (p = 0.03 at 1 year; p = 0.004 at 2 years), but not at 3 years. However, although BMD in the spine also rose over 3 years in the women treated with transdermal estradiol alone, the increase was not statistically significant. No significant change in the BMD of either the spine or the hip was observed in the control group. A significant difference in the increase of BMD in the spine between the different treatment groups was observed at 2 years (p = 0.004) in favor of those taking tibolone or conjugated equine estrogens, compared to women who received transdermal estradiol. The highest proportion of individual responders to therapy after 2 years' treatment was observed in those receiving tibolone or conjugated equine estrogens. There was no significant change in the BMD of the hip over 3 years, irrespective of the therapy taken, although there was a tendency towards a progressive increase in the women on tibolone. Neither the age of the women, their body mass index or pretreatment BMD had a significant effect on changes in bone density. Since tibolone effected a greater increase in spine BMD than did either conjugated equine estrogen with progestogen or transdermal estradiol alone, it is particularly suitable for older women who often have more advanced osteoporosis and who would not accept a return of cyclical bleeding.

Administration, Cutaneous↗
PubMed1996

Alterations of the cyclin-dependent kinase inhibitor p19 (INK4D) is rare in hematopoietic malignancies.

Cyclin-dependent kinase inhibitors (CDKIs) can be classified into two groups based on the structure of the proteins. One group includes the p21 (CIP1, WAF1, CAP20), p27 (Kip1), and p57 (Kip2) CDKIs, which contain a homologous amino-terminal cyclin-dependent kinase (cdk) inhibitory domain. The p16 (INK4A), p15 (INK4B), and p18 (INK4C) CDKIs, which have an ankyrin repeat motifs, belong to the other group. The p16 and p15 CDKI genes are very frequently altered in a variety of cancers including hematopoietic malignancies. The p19 (INK4D) gene is a newly cloned CDKI which belongs to the latter group. To determine if p19 genetic alterations play a role in hematopoietic malignancies, we examined DNA from 45 childhood newly diagnosed acute lymphocytic leukemias (ALLs), 30 acute myeloblastic leukemias (AMLs), 10 chronic myelocytic leukemias (CMLs), 45 adult T cell leukemias (ATLs), 70 non-Hodgkin's lymphomas (NHLs), and 20 multiple myelomas (MM) as well as 14 ALL, 20 AML, two ATL, and five lymphoma cell lines. Using Southern blot analysis, one homozygous deletion of the p19 gene was detected in a human immunodeficiency virus (HIV)-related Burkitt-like lymphoma sample. No point mutations in any of the samples were found by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. Our investigation suggests that alterations of p19 do not play an important role in the development of most hematopoietic malignancies.

Base Sequence↗
PubMed1995

McArdle's disease: molecular genetics and metabolic consequences of the phenotype.

McArdle's disease is defined as a lack of functional muscle glycogen phosphorylase. Analysis of the myophosphorylase gene has demonstrated substantial heterogeneity in the mutations that cause the disease, but in almost all individuals, the molecular phenotype is the absence of the protein in skeletal muscle. Muscle glycogen phosphorylase is a major repository of vitamin B6 in the body, accounting for at least 80% of the total body pool. In McArdle's patients, this pool is therefore missing, introducing the possibility that vitamin B6 metabolism might be altered in these individuals. Preliminary data have shown that McArdle's patients show signs of a subclinical vitamin B6 deficiency, and that oral vitamin B6 supplementation can improve vitamin B6 status and enhance fatigue resistance in muscle.

Base Sequence↗
PubMed1995

Intrarectal pressures and balloon expulsion related to evacuation proctography.

Seventy four patients with constipation were examined by standard evacuation proctography and then attempted to expel a small, non-deformable rectal balloon, connected to a pressure transducer to measure intrarectal pressure. Simultaneous imaging related the intrarectal position of the balloon to rectal deformity. Inability to expel the balloon was associated proctographically with prolonged evacuation, incomplete evacuation, reduced anal canal diameter, and acute anorectal angulation during evacuation. The presence and size of rectocoele or intussusception was unrelated to voiding of paste or balloon. An independent linear combination of pelvic floor descent and evacuation time on proctography correctly predicted maximum intrarectal pressure in 74% of cases. No patient with both prolonged evacuation and reduced pelvic floor descent on proctography could void the balloon, as maximum intrarectal pressure was reduced in this group. A prolonged evacuation time on proctography, in combination with reduced pelvic floor descent, suggests defecatory disorder may be caused by inability to raise intrarectal pressure. A diagnosis of anismus should not be made on proctography solely on the basis of incomplete/prolonged evacuation, as this may simply reflect inadequate straining.

Catheterization↗
PubMed1994

McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.

We have previously discovered a common nonsense mutation in exon 1 of the myophosphosphorylase gene in patients with McArdle's disease, but this failed to explain all cases. We now report a second mutation (G-->TT) in one patient, also in exon 1. This mutation causes a shift in the reading frame which results in the replacement of Val15 by Phe. A further 10 amino acids of mis-sense protein are synthesised before a stop codon is reached.

Amino Acid Sequence↗
PubMed1994

Autoimmune-thrombocytopenia and SLE in a patient with 5q-anomaly and deletion of the c-fms oncogene.

Autoimmune-thrombocytopenia was the striking feature in a patient with typical clinical symptoms of systemic lupus erythematosus (SLE), complement C4 deficiency, and positive lupus serology. However, myelodysplasia was found in the bone marrow and chromosome analysis revealed a deletion of the long arm of chromosome 5 (5q-anomaly), which was confirmed by a hemizygosity for the c-fms oncogene (CSF-1-receptor) on Southern blot. Autoimmune phenomena reported in conjunction with myelodysplastic syndromes (MDS), e.g., an elevation of antinuclear antibodies, are usually regarded as nonspecific. This case report suggests that SLE can occur in patients with MDS and that a concomitant autoimmune-thrombocytopenia may mask the typical signs of the 5q- syndrome.

Adult↗
PubMed1993

Utility of the instant (unprepared) enema in Crohn's colitis.

Thirty-seven instant (unprepared) barium enemas in 30 patients with proven Crohn's colitis were reviewed. Plain films in 28 indicated that confluence or discontinuity of the colitis did not substantially alter the pattern of faecal residue. In only one patient was residue found overlying active mucosal disease. Aphthoid ulceration was demonstrated in 27%. In five (13%) examinations the colitis was granular and indistinguishable from ulcerative colitis. In 26/37 (70%) typical stigmata of Crohn's colitis were present. There was no complication or clinical deterioration after the instant enema. The instant enema was found to be comparable to a prepared examination for the diagnosis of advanced Crohn's disease, though less accurate for demonstrating early changes.

Barium Sulfate↗
PubMed1993

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.

McArdle's disease is an inherited disease that results from a lack of functional muscle glycogen phosphorylase. We report here the identification of a C to T transition in exon 1 of the muscle phosphorylase gene found in all patients studied. This base pair mutation results in the substitution of a stop codon (TGA) for the codon (CGA) for Arg49 in the mature protein, and generates a novel restriction site for NlaIII. Of sixteen McArdle's patients, ten are homozygous for this mutation; the remainder are heterozygous. Additional unidentified mutations must lead to the McArdle's phenotype in the latter group of patients.

Base Sequence↗
PubMed1992

The translocation (6;9) (p23;q34) shows consistent rearrangement of two genes and defines a myeloproliferative disorder with specific clinical features.

Translocation (6;9)(p23;q34) is a cytogenetic aberration that can be found in specific subtypes of both acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). This translocation is associated with an unfavourable prognosis. Recently, the genes involved in the t(6;9) were isolated and characterized. Breakpoints in both the dek gene on chromosome 6 and the can gene on chromosome 9 appear to occur in defined regions, which allows us to diagnose this type of leukemia at the molecular level. Moreover, because of the translocation a chimeric dek-can mRNA is formed which, as we show here, is an additional target for diagnosis via cDNA-preparation and the polymerase chain reaction (PCR). We studied 17 patients whose blood cells and/or bone marrow cells showed a t(6;9) with karyotypic analysis. Fourteen patients suffered from AML, one patient had a refractory anemia with excess of blasts in transformation (RAEBt), one patient had an acute myelofibrosis (AMF), and one patient a chronic myeloid leukemia (CML). In nine cases studies at the DNA and RNA levels were possible while in seven cases only the DNA could be analyzed. In one case only RNA was available. Conventional Southern blot analysis showed the presence of rearrangements of both the dek gene and the can gene. In both genes, breakpoints cluster in one intron in the patients investigated. The presence of a consistent chimeric dek-can product after cDNA preparation followed by the PCR was demonstrated. We conclude from our data that the t(6;9) is found in myeloproliferative disorders with typical clinical characteristics. This translocation results in highly consistent abnormalities at the molecular level.

Adolescent↗
PubMed1991

Clinical value of PCR in diagnosis and follow-up of leukaemia and lymphoma: report of the third Workshop of the Molecular Biology/BMT study group.

The proceedings of the third workshop of the molecular biology/bone marrow transplantation (BMT) study group held in January 1991 in Verona, Italy. This workshop was convened to review progress in the application of molecular techniques to the diagnosis and follow-up of patients with chronic myeloid leukaemia (CML) as well as other haematologic malignancies. The results of polymerase chainreaction studies in 157 CML patients 1-90 months post BMT suggest that leukaemia is frequently detectable for the first 12 months but rarely detected thereafter except in patients known to have a high risk of relapse. In the acute leukaemias and lymphomas there is a rapidly increasing number of leukaemia-specific as well as clone-specific molecular markers now available for the detection of minimal disease. It may be possible to coordinate multi-center prospective studies to investigate the role of these markers in the diagnosis and follow-up of haematologic malignancies.

Bone Marrow Transplantation↗
PubMed1989

A phase I/II study of recombinant interferon alpha 2a and hydroxyurea for chronic myelocytic leukemia.

Nine previously untreated patients with Philadelphia chromosome-positive chronic myelocytic leukemia (CML) were treated with recombinant interferon alpha 2a (rIFN-alpha 2a) and hydroxyurea. Patients received 6 X 10(6) U rIFN-alpha 2a daily for the first week and 3 X 10(6) U rIFN-alpha 2a daily for the second week. As maintenance treatment starting on day 15, patients received 3 X 10(6) U rIFN-alpha 2a 3 times a week. Simultaneously, hydroxyurea was given, starting at a dose of 40 mg/kg on day one. The maintenance dosage was adjusted to the white blood cell count. Two patients responded with complete hematological remissions but without cytogenetic and molecular-genetic improvements. Seven patients responded with partial hematological remissions. Response to therapy was rapid; normal white blood cell counts were reached after a median of 12 days. The doses of rIFN-alpha 2a and hydroxyurea needed to keep the leucocyte count in the normal range were low (3 X 10(6) U rIFN-alpha 2a 3 times per week, 0.5-1.5 g hydroxyurea/day). Acute toxicity of the combination therapy consisted of fever (9 of 9 patients), flulike symptoms (7 of 9 patients), pruritus and/or rash (3 of 9 patients) and evidence of a tumor cell lysis syndrome (1 of 9 patients). The side effects were not dose-limiting. Combination therapy with rIFN-alpha 2a and hydroxyurea for CML is well tolerated and allows quick and effective hematological control of the disease.

Antineoplastic Combined Chemotherapy Protocols↗