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Biomedical subjects

J Conroy

Publications and source records attributed to J Conroy.

At least 19 recordsLinked to original sources
PubMed2005

Array comparative genomic hybridisation (aCGH) analysis of premenopausal breast cancers from a nuclear fallout area and matched cases from Western New York.

High-resolution array comparative genomic hybridisation (aCGH) analysis of DNA copy number aberrations (CNAs) was performed on breast carcinomas in premenopausal women from Western New York (WNY) and from Gomel, Belarus, an area exposed to fallout from the 1986 Chernobyl nuclear accident. Genomic DNA was isolated from 47 frozen tumour specimens from 42 patients and hybridised to arrays spotted with more than 3000 BAC clones. In all, 20 samples were from WNY and 27 were from Belarus. In total, 34 samples were primary tumours and 13 were lymph node metastases, including five matched pairs from Gomel. The average number of total CNAs per sample was 76 (range 35-134). We identified 152 CNAs (92 gains and 60 losses) occurring in more than 10% of the samples. The most common amplifications included gains at 8q13.2 (49%), at 1p21.1 (36%), and at 8q24.21 (36%). The most common deletions were at 1p36.22 (26%), at 17p13.2 (26%), and at 8p23.3 (23%). Belarussian tumours had more amplifications and fewer deletions than WNY breast cancers. HER2/neu negativity and younger age were also associated with a higher number of gains and fewer losses. In the five paired samples, we observed more discordant than concordant DNA changes. Unsupervised hierarchical cluster analysis revealed two distinct groups of tumours: one comprised predominantly of Belarussian carcinomas and the other largely consisting of WNY cases. In total, 50 CNAs occurred significantly more commonly in one cohort vs the other, and these included some candidate signature amplifications in the breast cancers in women exposed to significant radiation. In conclusion, our high-density aCGH study has revealed a large number of genetic aberrations in individual premenopausal breast cancer specimens, some of which had not been reported before. We identified a distinct CNA profile for carcinomas from a nuclear fallout area, suggesting a possible molecular fingerprint of radiation-associated breast cancer.

Adult↗
PubMed2004

Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes.

Constitutional chromosome deletions and duplications frequently predispose to the development of a wide variety of cancers. We have developed a microarray of 6000 bacterial artificial chromosomes for array-based comparative genomic hybridisation, which provides an average resolution of 750 kb across the human genome. Using these arrays, subtle gains and losses of chromosome regions can be detected in constitutional cells, following a single overnight hybridisation. In this report, we demonstrate the efficiency of this procedure in identifying constitutional deletions and duplications associated with predisposition to retinoblastoma, Wilms tumour and Beckwith-Wiedemann syndrome.

Bacteria↗
PubMed2004

Isolated rupture of the popliteus tendon in a professional soccer player.

We report an unusual case of an isolated intra-substance rupture of the popliteus tendon in a professional soccer player. The injury, sustained in a soccer tackle, was diagnosed on magnetic resonance imaging and subsequently confirmed on arthroscopic examination of the knee. The impinging proximal stump was debrided and the patient returned to playing competitive soccer within 6 weeks of surgery.

Adolescent↗
PubMed2004

Serotonin transporter gene and autism: a haplotype analysis in an Irish autistic population.

The role of the serotonin transporter (5-HTT) in the development of neuropsychiatric disorders has been widely investigated. Two polymorphisms, an insertion/deletion in the promoter region and a 12 repeat allele in a variable nucleotide tandem repeat (VNTR) in intron 2, drive higher expression of the 5-HTT gene. Four studies have shown nominally significant excess transmission of alleles of the 5-HTT gene in autism, while three studies have reported no excess transmission. This present study investigates the role of 5-HTT in the genetically homogenous Irish population. In all, 84 families were genotyped for five polymorphisms (three SNPs, a VNTR and an in/del). The analysis of allele transmissions using the transmission disequilibrium test (TDT) was undertaken and indicated preferential transmission of the short promoter allele (TDT P-value=0.0334). Linkage disequilibrium between markers was calculated and haplotypes were assessed for excess transmission and odds ratios (ORs) to affected children. A number of haplotypes, especially those involving and surrounding SNP10, showed evidence of association. The ORs ranged from 1.2 to 2.4. The most significant haplotype associated with transmission to affected probands was the SNP10-VNTR-SNP18 haplotype (chi(2)=7.3023, P=0.0069, odds ratio=1.8). This haplotype included the 12 repeat allele of the VNTR, which is associated with increased expression and may play a subtle role in the early development of the brain in affected probands.

Autistic Disorder↗
PubMed2003

Early internal fixation and soft tissue cover of severe open tibial pilon fractures.

We studied 32 consecutive patients with open distal tibial pilon fractures. All patients had radical debridement with immediate skeletal stabilisation and early soft-tissue cover with a vascularized muscle flap. The minimum follow-up was 1 (range 1-8) year. There were four superficial infections, two deep infections and two amputations. There were no long-term problems with union and no patient required an ankle fusion. Patients were assessed using the SF-36 questionnaire. There were significant differences from the US norm in physical function score ( p<0.01), role physical score ( p<0.05) and physical component score ( p<0.01). Physical component score of 38.5 was significantly better ( p<0.01) when compared with amputees from severe lower-extremity trauma. Our protocol for management resulted in a good functional outcome with low infection and amputation rates.

Amputation, Surgical↗
PubMed2001

Integration of cytogenetic landmarks into the draft sequence of the human genome.

We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.

Chromosome Aberrations↗
PubMed2001

Assembly of microarrays for genome-wide measurement of DNA copy number.

We have assembled arrays of approximately 2,400 BAC clones for measurement of DNA copy number across the human genome. The arrays provide precise measurement (s.d. of log2 ratios=0.05-0.10) in cell lines and clinical material, so that we can reliably detect and quantify high-level amplifications and single-copy alterations in diploid, polyploid and heterogeneous backgrounds.

Aneuploidy↗
PubMed2001

Dissemination and adoption of the Child and Adolescent Trial for Cardiovascular Health (CATCH): a case study in Texas.

The total impact of a health promotion program can be measured by the efficacy of the intervention multiplied by the extent of its implementation across the target population. The Child and Adolescent Trial for Cardiovascular Health (CATCH) was a school-based health promotion project designed to decrease fat, saturated fat, and sodium in children's diets, increase physical activity, and prevent tobacco use. This article describes the dissemination of CATCH in Texas, including the theoretical framework, strategies used, and lessons learned. To date (Fall 2000), CATCH materials have been adopted by more than 728 elementary schools in Texas.

Adolescent↗
PubMed1999

Genome-wide allelotyping indicates increased loss of heterozygosity on 9p and 14q in early age of onset colorectal cancer.

Colorectal cancer remains a significant public health challenge, despite our increased understanding of the genetic mechanisms involved in the initiation and progression of this disorder. It has become clear that multiple mechanisms lead to the tumorigenic phenotype, with familial predisposition syndromes accounting for less than 15% of all colorectal cancers. A genome-wide scan for loss of heterozygosity (LOH) was carried out with 150 highly polymorphic markers in an effort to identify additional loci involved in colorectal tumorigenesis in DNA samples from 42 colorectal cancer patients. The results confirm earlier observations that tumor DNAs from patients with hereditary nonpolyposis colon cancer (HNPCC) either maintain heterozygosity or exhibit altered or additional alleles. DNAs from patients with early onset colorectal carcinomas (diagnosed prior to age 50) revealed a higher overall degree of LOH than DNAs from patients with sporadic colorectal cancers diagnosed later in life (after age 50). While regions on 1p, 10q and 14q are suggestive, statistical analysis of LOH at these regions failed to reach significance. However, LOH at 9p did reveal a statistically significant increase in the early onset patient group, compared to the greater than age 50 group. LOH on 9p may involve inactivation of p16/CDKN2 through aberrant DNA methylation on the remaining chromosome, resulting in a situation analogous to a homozygous deletion of p16 and providing a selective growth advantage to these cells. This marker may prove to be a useful prognostic indicator for patient stratification in the design of therapy for early onset colorectal cancer patients.

Age of Onset↗
PubMed1998

Measuring the consumer satisfaction of class members of a law suit.

The present article describes a study of consumer satisfaction in a group of class members who are part of a mental disability law reform suit Consumer satisfaction was considered one aspect of compliance with this lawsuit. The class members have a primary diagnosis of intellectual disability, and in most cases, a secondary diagnosis of mental illness. Conducting consumer satisfaction studies among people with intellectual disabilities is often challenging because some of these consumers have difficulty articulating their needs and concerns. An interview schedule with simple quantitative and qualitative satisfaction questions was used. The present study investigated the satisfaction of a subgroup of these class members prior to and after having a court-supported service plan. The results reveal that these consumers became considerably more satisfied, and many of their specific satisfactions and dissatisfaction were identified. The results suggest that both quantitative and qualitative consumer responses can be helpful in determining compliance with court issues.

Adult↗
PubMed1998

Use of psychotropic medications for persons with mental retardation who live in Oklahoma nursing homes.

OBJECTIVE: The study examined the use of psychotropic medications to treat persons with mental retardation living in nursing homes in Oklahoma. METHODS: Data were gathered on all 1,056 individuals funded through the Oklahoma mental retardation service system in 1995 to live in nursing homes. The Developmental Disabilities Quality Assurance Questionnaire was used to assess adaptive behavior, living site conditions, health, use of medications, and other variables. RESULTS: The most frequently used class of psychotropic medications was antipsychotic medication, used by 31.8 percent of subjects. Sixteen percent received anxiolytic medication, and 6.1 percent received antidepressant medication. Stepwise multiple regression analysis indicated that use of antipsychotic medication was marginally predictable (less than 15 percent of the variance was explained) with a linear combination of six variables: mental health problems; violence toward others; adaptive behavior; screaming, yelling, or crying behavior; hyperactivity; and age. CONCLUSIONS: A relatively high percentage of subjects received various forms of psychotropic medications, especially antipsychotics. The presence of behavior problems or mental health problems did not sufficiently explain the high rate of use of antipsychotic medication. The risks of this type of medication and its lower rate of use in group homes raise the question of the appropriateness of placing persons with mental retardation in nursing homes as they are currently conceived.

Adolescent↗
PubMed1997

A consumer satisfaction survey of people with mental retardation and mental illness.

This study investigated consumer satisfaction among 98 members of the Thomas S. class action lawsuit in North Carolina, in which the court ordered implementation of habilitative and residential service plans. Class members have mental retardation, and most also have a mental illness. Before the court order, 83 of the consumers were inappropriately placed in state psychiatric hospitals; one year after, 82 were living in community residences. A survey at baseline and one year later indicated that consumers' satisfaction had increased significantly. They were more satisfied with where they lived, the food, and the level of freedom. They also felt that staff were more helpful, and that more staff were "nice" rather than "mean."

Adult↗
PubMed1995

Structure and evolution of teleost mitochondrial control regions.

We amplified and sequenced the mitochondrial control region from 23 species representing six families of teleost fish. The length of this segment is highly variable among even closely related species due to the presence of tandemly repeated sequences and large insertions. The position of the repetitive sequences suggests that they arise during replication both near the origin of replication and at the site of termination of the D-loop strand. Many of the conserved sequence blocks (CSBs) observed in mammals are also found among fish. In particular, the mammalian CSB-D is present in all of the fish species studied. Study of potential secondary structures of RNAs from the conserved regions provides little insight into the functional constraints on these regions. The variable structure of these control regions suggests that particular care should be taken to identify the most appropriate segment for studies of intraspecific variation.

Animals↗
PubMed1994

Virologic, immunologic, and clinical evaluation of human immunodeficiency virus antibody status of symptom-free children born to infected mothers.

STUDY OBJECTIVE: To determine the prevalence of infection by the human immunodeficiency virus (HIV) in a population of symptom-free children who were born to HIV-infected mothers and who subsequently underwent seroreversion from an HIV antibody-positive to an HIV antibody-negative status. DESIGN: Cohort. SETTING: Pediatric HIV program in a community setting. PATIENTS: We used HIV DNA polymerase chain reaction (PCR) and coculture to detect the presence or absence of HIV in peripheral blood mononuclear cells of 134 children aged 6 to 53 months. All children had HIV antibody at birth and underwent a subsequent seroreversion to antibody-negative status. RESULTS: In 134 children with HIV antibody-negative status, 219 of 220 culture results and 242 of 247 HIV-1 DNA PCR assay results were negative. Six positive laboratory results were obtained for six different children, each of whom had negative results on multiple assays. For HIV-infected children, 56 of 62 cultures and 99 of 104 PCR evaluations showed positive results. There was no clinical or laboratory evidence of HIV infection in the group with HIV antibody-negative status. CONCLUSION: We were unable to find evidence of latent HIV type 1 infection in this cohort of symptom-free children who underwent seroreversion to HIV antibody-negative status. The loss of maternal HIV antibody in these children indicates the absence of HIV infection. False-positive PCR and culture results occurred sporadically, indicating that repeated analysis of HIV seropositivity in infants and children is necessary.

Adolescent↗