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Biomedical subjects

D A O'Reilly

Publications and source records attributed to D A O'Reilly.

13 recordsLinked to original sources
PubMed2006

Endoscopic stent insertion for the palliation of malignant gastric outlet obstruction.

BACKGROUND/AIMS: Controversy exists as to whether endoscopic or minimally invasive/open bypass is superior in cases of malignant gastric outlet obstruction. METHODS: Retrospective observational study following those patients admitted to the hospital between January 1999 and December 2004 (n = 23) with gastric outlet obstruction. In all suitable patients endoscopic stent insertion was attempted. Symptomatic improvement was monitored as was time until discharge as well as need for readmission. We also recorded morbidity and mortality associated with the procedure as well as final survival in days. RESULTS: Stents were inserted successfully in 21 patients. Two patients went on to have a laparoscopic bypass. Stent placement relieved obstructive symptoms in all patients. A median inpatient stay of 4 days was achieved (range 2-9 days). One patient was admitted with recurrent symptoms 9 months following his initial treatment. Investigation showed the distal end of the stent to be occluded by further tumor. His symptoms were relieved by the insertion of a second stent. In 19 patients death was due to metastatic disease. Operative mortality: cerebrovascular accident day 2 (n = 1), duodenal perforation day 4 (n = 1). CONCLUSION: Patients with malignant gastric outlet obstruction not suitable for resection should be assessed for insertion of an enteral stent.

Aged↗
PubMed2002

Muir-Torre syndrome: a case for surveillance of the ampulla of Vater.

A 64-year-old man with Muir-Torre syndrome (MTS), a condition characterized by the association of multiple sebaceous tumours and kerato-acanthomas with internal malignancies, developed a carcinoma of the ampulla of Vater. This is the 2nd reported ampullary carcinoma in 205 reported cases of MTS, suggesting a higher prevalence in MTS patients than in the general population. As an ampullary carcinoma is potentially amenable to surgical resection, particularly when detected early, patients with MTS should undergo regular endoscopic surveillance of the ampulla of Vater.

Ampulla of Vater↗
PubMed2001

Study of polymorphisms in the CYP2E1 gene in patients with alcoholic pancreatitis.

Cytochrome P450IIEI (CYP2E1) is an ethanol-inducible enzyme. Recently, several novel polymorphisms in the CYP2E1 gene have been identified. A polymorphism at position -35 [G(-35)T] appears to be of functional significance in transcription assays. The aim of this study was to investigate if this and other polymorphisms, at position -1019 [C(-1019)T], 4808 [G(4808)A], and 7668 [T(7668)A] of the CYP2E1 gene are associated with alcoholic pancreatitis. DNA was extracted from peripheral blood of 38 patients with alcoholic chronic pancreatitis (CP), 19 patients with alcoholic acute pancreatitis (AP), 46 alcoholic controls (AC), and 155 normal controls (NC). The polymorphisms were examined by digestion with the corresponding restriction endonucleases following PCR amplification. The results have shown that the frequencies of the rare alleles of these polymorphisms were not significantly different between the CP, AP, and AC groups and NC. Therefore, our study results suggest to us that the polymorphisms investigated in the CYP2E1 gene are unlikely to be involved in the susceptibility and pathogenesis of alcoholic pancreatitis.

Chi-Square Distribution↗
PubMed2001

NFkappaB polymorphisms and susceptibility to type 1 diabetes.

Nuclear factor kappa B (NFkappaB) is an important transcription factor that is involved in the response to oxidative stress and inflammation. Recent studies suggest that it may be involved in the development of diabetic microvascular complications. A highly polymorphic (CA) dinucleotide repeat microsatellite has been identified in the regulatory region of the NFkappaB gene. The aim of this study was to investigate whether this polymorphic region was associated with susceptibility to type 1 diabetes, or its late complications. Genomic DNA was extracted from the peripheral blood of 217 patients with type 1 diabetes mellitus (T1DM) and 111 normal healthy controls. In our population 18 alleles (A1-A18) were identified. There was a highly significant decrease in the frequency of allele 146 bp (A14) in type 1 diabetes (0.03) compared with the normal controls (0.28) (chi(2) = 79.8, Pc = 0.00001). In contrast, the frequency of the allele 138 bp (A10) was significantly increased in patients with type 1 diabetes (0.17) compared with the normal controls (0.02) (chi(2) = 32.8, P < 0.00000). These results demonstrate that the NFkappaB gene may play a role in the susceptibility to type 1 diabetes: individuals with the A10 allele may be more likely to develop diabetes compared with the A14 allele.

Adolescent↗
PubMed2001

Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis.

BACKGROUND/AIMS: Mutations in the cationic trypsinogen gene have been detected in patients with hereditary pancreatitis (HP). This study investigates the prevalence of the R122H, N29I, A16V and -28delTCC mutations in the common, non-hereditary forms of chronic pancreatitis and in a HP family. METHODS: DNA was prepared from blood samples of 53 patients with chronic pancreatitis (36 alcoholic, 14 idiopathic and 3 hereditary), 20 alcoholic controls and 20 healthy, ethnically matched controls. The R122H and A16V mutations were identified by the polymerase chain reaction (PCR) and restriction enzyme digestion. A nested-PCR was used to identify the N29I mutation. The -28delTCC deletion and the C133807T polymorphism were sought by direct sequencing. RESULTS: The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family. The N29I, A16V and -28delTCC mutations were not detected in any of the study subjects. At the C133807T polymorphism, the C allele and C/C genotype were significantly increased in alcoholic chronic pancreatitis (p = 0.001 and p = 0.0004, respectively) while the T allele and CT genotype were significantly reduced (p = 0.001 and p = 0.004, respectively) compared to healthy controls. CONCLUSIONS: Mutations of the cationic trypsinogen gene are rarely found in chronic pancreatitis patients of typical aetiology. Screening for these mutations should be considered in those with a family history consistent with hereditary pancreatitis but may also be appropriate in a well-defined subgroup of patients with non-hereditary chronic pancreatitis, i.e. those who have developed the disease before the age of 30.

Adult↗
PubMed2001

YC-1 enhances the responsiveness of tolerant vascular smooth muscle to glyceryl trinitrate.

A major limitation of the use of organic nitrates in cardiovascular medicine is the development of tolerance, which has been attributed, in part, to a decrease in their metabolic activation in the vascular smooth muscle cell. Recently, 3-(5'-hydroxymethyl-2'-furyl)-1-benzylindazole (YC-1) was shown to potentiate vascular smooth muscle responsiveness to glyceryl trinitrate (GTN), sodium nitroprusside, and the nitric oxide donor NOC 18, in organic nitrate-naive vascular smooth muscle. We used GTN-tolerant rabbit aortic rings (RARs) to test the hypothesis that a non-vasorelaxant concentration of YC-1 enhances the ability of the prototypical organic nitrate GTN to relax vascular smooth muscle and elevate intravascular cGMP under conditions of GTN tolerance. Treatment with YC-1 (3 microM) produced a left shift of the GTN concentration-response curve and decreased the EC50 value for GTN-induced relaxation in both GTN-tolerant and non-tolerant RARs (P < 0.05). Intravascular cGMP elevation induced by GTN was enhanced in the presence of YC-1 in GTN-tolerant and non-tolerant RARs (P < 0.05). These observations indicate that YC-1, or similarly acting drugs, may be useful in overcoming the tolerance that develops during sustained GTN therapy, and that its mechanism may involve enhanced cGMP formation.

Animals↗
PubMed2000

Hereditary pancreatitis and mutations of the cationic trypsinogen gene.

BACKGROUND: Mutations of the cationic trypsinogen gene have been detected in hereditary pancreatitis. This article reviews current understanding of their function and clinical significance. METHODS: An unrestricted Medline search was conducted using the key words hereditary pancreatitis and 'cationic trypsinogen . Additional material was obtained from references cited in original papers and recently published abstracts of meetings. RESULTS AND CONCLUSION: Cationic trypsinogen mutations have been identified in most, but not all, families with hereditary pancreatitis. This confirms existing evidence that premature trypsinogen activation plays a central role in the pathogenesis of human pancreatitis. Patients currently clinically defined as having hereditary pancreatitis should be screened for the presence of cationic trypsinogen mutations. A subgroup of patients with non-hereditary pancreatitis may also benefit from being screened for these mutations. Patients with hereditary pancreatitis should be entered into prospective, multicentre trials investigating secondary screening for pancreatic cancer. Gene therapy for hereditary pancreatitis is beyond current technological capability but remains a future therapeutic prospect for this often debilitating condition.

Acute Disease↗
PubMed1993

Childhood porphyrias: implications and treatments.

In describing the clinical, biochemical, and family findings in five children with porphyria, we examine initial treatments and, where appropriate, the effectiveness of long-term therapy. We note that porphyria diagnosis, particularly in childhood, relies heavily on specialist laboratory investigations. Because disease expression in some porphyrias requires exposure to precipitating factors, it may be prevented or delayed by their avoidance.

Adolescent↗
PubMed1990

Variant acute intermittent porphyria in a child.

A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontaneously after the withdrawal of carbamazepine and sodium valproate and the commencement of parenteral nutrition with subsequent carbohydrate loading. In addition to normal concentrations of enzyme activities, the patient is unusual in presenting before puberty and in having no family history of porphyria.

Acute Disease↗