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Biomedical subjects

J Hussey

Publications and source records attributed to J Hussey.

At least 19 recordsLinked to original sources
PubMed2006

Therapeutic transarterial embolisation in the management of benign and malignant renal conditions.

PURPOSE: The aim of this study was to critically appraise the efficacy and complications of Therapeutic Transarterial Embolisation (TAE) in various benign and malignant renal conditions. MATERIAL AND METHODS: The records of all patients who underwent renal embolisation procedures, at a single institution, between March 1992 and March 2004, were reviewed. The patients were identified from hospital records via the procedure coding system and the radiology department procedures book and were analysed retrospectively. Twenty-nine patients were analysed, looking at indications, clinical outcome, complications and long-term results. RESULTS: Twenty-nine patients underwent 35 embolisation procedures during this period. Fourteen patients with benign diseases underwent 17 embolisation procedures for haematuria or intractable pain. In the haematuria group, selective embolisation was used to treat bleeding post percutaneous nephrolithotomy (PCNL) (n=4), angiomyolipoma (n=2), arteriovenous (AV) malformation (n=l1), renal artery aneurysm (n=1) and renal trauma (n=2). In the renal pain group (n=3), non-selective embolisation was done. Two of these patients had recurrence of pain despite repeat embolisation and subsequently underwent nephrectomy. Fifteen patients with advanced renal malignancy, who were deemed unfit for surgery, underwent 18 embolisation procedures for symptomatic haematuria. Twelve of the 15 patients had successful outcomes with cessation of haematuria. Three patients required repeat embolisation procedures for continuing haematuria with success. There were no major embolisation-related complications. Minor complications were self-limiting and settled with conservative management. CONCLUSION: Renal artery embolisation is effective in managing haematuria in benign and malignant renal conditions where indicated, with minor and easily treatable adverse effects

Adult↗
PubMed2006

Exercise tolerance and physical activity levels in children referred to a weight reduction clinic.

The aim of this study was to investigate exercise tolerance and physical activity levels in children with exogenous obesity. Measures included BMI, waist circumference, exercise tolerance and self reported physical activity. Exercise tolerance was measured by the Modified Balke Treadmill Protocol and results were compared to normal values. Physical activity levels were assessed by measuring energy expended in regular activities each week over the past year and number of hours spent watching TV/video using an adaptation of the 'Modifiable Activity Questionnaire for Adolescents'. Details on transport to school were also obtained. Forty five children between September 2002 and June 2004 were assessed. This group comprised of 25 girls and 20 boys with mean ages (standard deviation) of 11.9 +/- 3.0 years and 13.7 +/- 2.5 years respectively. Exercise tolerance as a percentage of normal was below minimal levels in 64% girls and 75% boys. Energy expended in regular activity was less than the minimal recommendation in 80% girls and 65% boys. Seventy six percent of girls and 70% of boys spent 2 hours or more per day watching television and 40% of girls and 70% of boys walked to school. The low levels of activity and exercise tolerance need to be addressed in the managemeni of children with obesity

Ambulatory Care Facilities↗
PubMed2003

Parkin-proven disease: common founders but divergent phenotypes.

OBJECTIVE: To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3Delta40) to search for evidence of a common founder. METHOD: Clinical review, parkin gene sequencing, dosage studies, and high-resolution genotype/haplotype analysis were performed. RESULTS: All subjects had two or more signs consistent with a diagnosis of possible or probable PD with age at onset younger than 45 years (mean +/- SD 29.3 +/- 10.2 years, range 16 to 42 years). Affected individuals were either homozygotes, compound heterozygotes, or Ex3Delta40 carriers with one normal parkin allele. Haplotype analysis revealed both Ex3Delta40 and Ex7 924 C-->T (R275W) mutations originated from common founders, the former most probably of Irish descent. Although three cases had Ex7 924 C-->T (R275W) and Ex3Delta40 mutations, their clinical presentation and mode of inheritance were variable. CONCLUSION: Parkin mutations on common parkin haplotypes provide testable hypotheses of parkin function in genetically defined parkinsonism.

Adult↗
PubMed2003

Does bacterial vaginosis alter the sensitivity of screening tests for Chlamydia trachomatis? An analysis of patient characteristics.

The aim of this study was to assess if patient characteristics could influence the sensitivity of enzyme immunoassay (EIA) testing used for chlamydia screening. Our cohort consisted of 56 patients who were known polymerase chain reaction-positive for chlamydia, but with variable EIA results. Characteristics analysed included those already known to influence the EIA (menstruation, pregnancy, difficult examination) and those suspected from clinical observation (including presence of symptoms or signs, coexistent gonorrhoea, duration from last sexual exposure). An unexpected finding was that significantly more cases of bacterial vaginosis were found in those chlamydia EIA-negative compared to those with positive results. We postulate that an enzyme produced in bacterial vaginosis, proline aminopeptidase, may cause destruction of the chlamydial cell wall, therefore affecting the EIA adversely. Further research is needed to explore this hypothesis.

Chlamydia Infections↗
PubMed2003

Audit of gonorrhoea test of cure at the genitourinary medicine department in Newcastle upon Tyne, UK.

The aim of the audit was to assess the need for a microbiological test of cure for gonorrhoea when a sensitive antibiotic has been used. All cases of gonorrhoea attending our clinic in 2001 were reviewed. One hundred and seventy-three cases were diagnosed, 137 men and 36 women. Of the 126 cases where tests of cure were taken, none were positive from an infective site when a sensitive antibiotic was used. Cases of gonorrhoea from year 2000 were then analysed for test of cure. Of 125 tests of cure again none were positive. These results question the need for routine tests of cure which current national guidelines state are usually performed in UK practice. The implications of abandoning a test of cure visit are discussed.

Anti-Bacterial Agents↗
PubMed2002

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

Adult↗
PubMed2002

A multi-incident, Old-Order Amish family with PD.

BACKGROUND: PD is largely a sporadic condition of unknown etiology, but specific inherited mutations are a cause of PD. OBJECTIVE: To describe a large, multi-incident Amish pedigree with PD. METHODS: Case ascertainment, calculation of population prevalence, and calculation of kinship coefficients (a measure of relatedness between two individuals) for affecteds and subjects in a large kindred with PD were conducted. Sequencing of genes with known mutations sufficient to cause PD and marker-by-marker haplotype analysis in chromosomal regions flanking previously described genes with known mutations were performed. RESULTS: The authors have examined 113 members of this pedigree and classified 67 as normal (no evidence of PD), 17 as clinically definite PD, 6 as clinically probable PD, and 23 as clinically possible PD. The mean age at onset of the clinically definite subjects was 56.7 years. The phenotype in this family is typical of idiopathic PD, including rest tremor, rigidity, bradykinesia, postural instability, and response to levodopa. In addition, dementia occurred in six of the clinically definite subjects, and many subjects experienced levodopa-related motor complications including wearing off and dopa-induced dyskinesias. In the index Amish community, a minimum prevalence of PD in the population 40 years and older of 552/100,000 was calculated. The mean kinship coefficient in the subjects with PD and those with PD by history (0.036) was higher (p = 0.007) than in a group of age-matched normal Amish control subjects (0.016), providing evidence that PD is inherited in this family. Sequence analysis did not detect any mutations in known PD genes. No single haplotype cosegregates with the disease in any of the chromosomal regions previously found to be linked to PD, and no marker in these regions exhibits increased homozygosity among definite PD cases. CONCLUSIONS: PD in this community is more common than in the general population, and this increased prevalence may be due in part to a novel gene(s).

Adult↗
PubMed2002

Peripheral muscle strength in young males with cystic fibrosis.

BACKGROUND: In children with cystic fibrosis there is a decrease in peak work capacity and oxygen consumption on maximal exercise testing when compared to controls. Previous studies have shown that peripheral muscle force is decreased in children with cystic fibrosis even in those with minimal changes in lung function. However, no studies have examined peripheral muscle strength using isokinetic dynamometry which permits measurement of muscle strength throughout range and is considered the gold standard in orthopaedics and sports medicine. METHODS: Isokinetic muscle strength was measured in the knee flexors and extensors and shoulder flexors and extensors at two speeds of movement in children with cystic fibrosis and matched controls. Activity levels in both groups were calculated. RESULTS: Thirteen subjects and 13 age and height matched controls were assessed. Average peak torque was calculated and expressed in terms of body weight. There was a significant difference in peak torque/body weight in children with cystic fibrosis when compared to controls. FEV1 was significantly correlated with knee muscle strength and shoulder flexion at 90 degrees /s in subjects with CF. CONCLUSION: Children with CF had lower muscle strength than control subjects. Airflow limitation was associated with decreased muscle strength. The relationship between muscle strength and exercise tolerance requires investigation.

Adolescent↗
PubMed2001

Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells.

The discovery of mutations in the gene for alpha-synuclein in familial Parkinson's disease (PD) has led to an increased interest in this pre-synaptic protein. Synphilin-1, a potential synuclein-binding protein, was cloned using yeast two-hybrid assays. The function of synphilin-1 is currently unknown, although it has been reported to be present along with alpha-synuclein in Lewy bodies in PD. In the present study, we monitored synphilin-1 aggregation directly using fusion proteins of synphilin-1 and green fluorescent protein (EGFP). Transfection of synphilin-EGFP fusion proteins formed cytoplasmic inclusions in HEK293 cells. Although these inclusions overlapped with the distribution of alpha-synuclein, they were unlike Lewy bodies in that they were not eosinophilic, and instead were membrane-bound, lipid-rich cytoplasmic inclusions.

Amino Acid Sequence↗
PubMed2001

Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.

BACKGROUND: Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), can present with parkinsonism. However, classically, atypical features, including pyramidal and cerebellar signs, peripheral neuropathy, and/or anterior horn cell dysfunction, are also seen. Levodopa responsiveness is unusual in this disorder. OBJECTIVE: To determine the cause of apparent parkinsonism suggestive of Parkinson disease (PD) in a large family of African origin. METHODS: We studied a large family in which apparent autosomal dominant parkinsonism suggestive of PD occurs in order to find the causal genetic mutation. Affected and unaffected family members were screened for the presence of a pathogenic expansion at the MJD/SCA3 locus using a polymerase chain reaction polyacrylamide gel electrophoresis-based assay. RESULTS: Three of the 4 individuals who were examined have a phenotype reminiscent of PD. Specifically, they have at least 2 of the cardinal features, are levodopa responsive, and have no atypical features. All affected family members were shown to possess pathogenic expansions in the MJD/SCA3 gene. CONCLUSIONS: Parkinsonism suggestive of PD due to MJD/SCA3 has not been previously reported, to our knowledge. However, atypical, though also levodopa-responsive, parkinsonism has been previously reported to occur in African American families, suggesting that that this phenotype is associated with African ancestry. In this regard, it is perhaps significant that all the individuals with parkinsonism have relatively low numbers of repeats (normal, 16-34; pathologic, 60-84). In families in which linkage analysis is being performed to determine a locus for autosomal dominant parkinsonism suggestive of PD, evaluation for the MJD/SCA3 mutation is indicated.

Adult↗
PubMed2001

Lewy bodies and parkinsonism in families with parkin mutations.

Previous work has established that compound mutations and homozygous loss of function of the parkin gene cause early-onset, autosomal recessive parkinsonism. Classically, this disease has been associated with loss of dopaminergic neurons in the substantia nigra pars compacta and locus ceruleus, without Lewy body pathology. We have sequenced the parkin gene of 38 patients with early-onset Parkinson's disease (<41 years). Two probands with mutations were followed up. Clinical evaluation of their families was performed, blinded to both genetic and pathological findings. Chromosome 6q25.2-27 haplotype analysis was carried out independently of the trait; parkin gene expression was examined at both the RNA and protein levels. Haplotype analysis of these families revealed a common chromosome 6, with a novel 40 bp exon 3 deletion that cosegregated with disease. In the proband of the smaller kindred, an exon 7 R275W substitution was identified in addition to the exon 3 deletion; RNA analysis demonstrated that the mutations were on alternate transcripts. However, Lewy body pathology typical of idiopathic Parkinson's disease was found at autopsy in the proband from the smaller kindred. These data suggest that compound heterozygous parkin mutations and loss of parkin protein may lead to early-onset parkinsonism with Lewy body pathology, while a hemizygous mutation may confer increased susceptibility to typical Parkinson's disease.

Adult↗
PubMed2001

Physical activity in Dublin children aged 7-9 years.

OBJECTIVES: To investigate the amount of regular activity and time spent in sedentary occupations in children aged 7--9 years. Sex differences in levels of activity and time and facilities for physical education at school were also examined. METHODS: A 10% sample of Dublin National Schools were selected. Parents of children in second class were surveyed. The questionnaire used was a modification of the Modifiable Activity Questionnaire for Adolescents. Teachers of second class were questioned about the time and facilities for physical education in schools. RESULTS: Some 39% of children were participating in hard exercise for at least 20 minutes three or more times a week, with fewer girls (28%) than boys (53%) contributing to this result. A further 57% of children were engaging in at least 20 minutes of light exercise three or more times a week, with no sex differences. Estimated energy expenditure in regular activity was higher in boys than girls. Most (78%) of the children were spending one to three hours a day sedentary in front of a screen. CONCLUSIONS: This study provides comprehensive data on physical activity levels in Dublin schoolchildren aged 7--9 years. The amount of inactivity is of concern. Even at this young age, boys are reported to participate in more physical activity than girls.

Child↗
PubMed2000

Sensitization of neuronal cells to oxidative stress with mutated human alpha-synuclein.

Linkage of alpha-synuclein (alpha-SN) mutations to familial Parkinson's disease (PD) and presence of alpha-SN as a major constituent of Lewy body in both sporadic and familial PD implicate alpha-SN abnormality in PD pathogenesis. Here we demonstrate that overexpression of wild-type or mutant alpha-SN does not cause any deleterious effect on the growth or continued propagation of transfected human cells, but overproduction of mutant alpha-SN heightens their sensitivity to menadione-induced oxidative injury. Such enhanced vulnerability is more pronounced in neuronal transfectants than in their nonneuronal counterparts and is associated with increased production of reactive oxygen species. The data suggest that mutated alpha-SN, especially with an alanine-to-proline substitution at residue 30, sensitizes neuronal cells to oxidative damage.

Cell Line↗
PubMed1997

Retrograde balloon dilatation for pelviureteric junction obstruction: long-term follow-up.

The results of 10 years' experience of treating pelviureteric junction (PUJ) obstruction by balloon dilatation are reviewed, and recommendations about the suitability of the technique for individual patients are made based on the patient's history and a preoperative DTPA renogram. Of 76 patients, 32 (42%) had no further symptoms after balloon dilatation. Six (8% continued to have mild loin pain only. In 33 patients (43%), there was no improvement in symptoms, split renal function, or drainage. Of this group, 21 patients (28%) underwent repeat balloon dilatation. Nine (12% became asymptomatic, and a further four (5%) had only minimal residual symptoms. The overall success rate of the procedure in terms of symptomatic abolition or improvement thus was 67%. Patients with < 25% function in the affected kidney preoperatively or who had undergone a previous pyeloplasty were the most likely to require additional treatment. No deaths were recorded, and morbidity was minimal.

Adolescent↗
PubMed1993

Improved zipper closure of the abdominal wall in patients requiring multiple intra-abdominal operations.

Optimal management of pancreatic abscess and septic complications of acute pancreatitis remains controversial. With the "open packing" approach, repeated closure of the midline fascia is complicated by loss of tissue integrity and suture strength. An improved zipper closure of the abdominal wall in six patients with pancreatic abscess is presented. Improvements included: (1) using a separating jacket-type zipper to allow maximal intraoperative exposure; (2) employing a removable tuck for expansion of the patch covering the wound; (3) substituting a nonmeshed polytetrafluoroethylene material for the polypropylene mesh to prevent adherence to the underlying viscera; and (4) creating a flap underneath the zipper teeth to protect the underlying tissue from injury. Satisfactory results were achieved with the improved zipper technique.

Abdominal Muscles↗