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G Malone

Publications and source records attributed to G Malone.

At least 19 recordsLinked to original sources
PubMed2001

Pro-patient partnerships.

The degree to which nurses and physicians collaborate greatly impacts patient care. These elements of effective partnerships and strategies can help you achieve mutual benefits.

Cooperative Behavior↗
PubMed1998

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

BACKGROUND: The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more common than expected among patients with chronic pancreatitis. METHODS: We studied 134 consecutive patients with chronic pancreatitis (alcohol-related disease in 71, hyperparathyroidism in 2, hypertriglyceridemia in 1, and idiopathic disease in 60). We examined DNA for 22 mutations of the CFTR gene that together account for 95 percent of all mutations in patients with cystic fibrosis in the northwest of England. We also determined the length of the noncoding sequence of thymidines in intron 8, since the shorter the sequence, the lower the proportion of normal CFTR messenger RNA. RESULTS: The 94 male and 40 female patients ranged in age from 16 to 86 years. None had a mutation on both copies of the CFTR gene. Eighteen patients (13.4 percent), including 12 without alcoholism, had a CFTR mutation on one chromosome, as compared with a frequency of 5.3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P<0.001). A total of 10.4 percent of the patients had the 5T allele in intron 8 (14 of 134), which is twice the expected frequency (P=0.008). Four patients were heterozygous for both a CFTR mutation and the 5T allele. Patients with a CFTR mutation were younger than those with no mutations (P=0.03). None had the combination of sinopulmonary disease, high sweat electrolyte concentrations, and low nasal potential-difference values that are diagnostic of cystic fibrosis. CONCLUSIONS: Mutations of the CFTR gene and the 5T genotype are associated with chronic pancreatitis.

Adolescent↗
PubMed1998

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics laboratories). Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients. Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families. In addition, a novel polymorphism, 297-67(A/C), and three previously described rare mutations, 1525-1(G>A), R560S, and 1898+1(G>T), were detected. In the 14 Pakistani CF patients from the north west of England, DeltaF508 accounted for approximately 32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was approximately 86% (24/28 chromosomes).

Cystic Fibrosis↗
PubMed1994

Active cascade testing for carriers of cystic fibrosis gene.

OBJECTIVE: To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (Cascade screening). DESIGN: Paediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis. SETTING: North Western health region. SUBJECTS: Relatives and partners of 607 people with cystic fibrosis. INTERVENTIONS: Genetic counselling by letter for people found to be carriers; formal genetic counselling and when indicated arrangements for prenatal diagnosis for couples discovered to be carriers. MAIN OUTCOME MEASURES: Number of carrier couples detected; action in pregnancy of detected carrier couples; extent of the uptake of screening by relatives. RESULTS: Of 1563 relatives or partners tested, 15 carrier couples were detected; of nine pregnancies undertaken by these 15, eight had prenatal tests and three terminated pregnancies. An average of 16 people per family have come forward for testing so far. CONCLUSIONS: Cascade screening for carriers of cystic fibrosis is well accepted by relatives, especially on the mother's side of the family; it is 10 times more efficient in detecting carrier couples than unfocused screening. Detected carrier couples make practical use of the information in pregnancy. Active cascade screening for carriers is effective in cystic fibrosis and widespread application is recommended. These principles could be applied to other recessive disorders.

Cystic Fibrosis↗
PubMed1992

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

The amplification refractory mutation system (ARMS) is a simple, rapid and reliable method for the detection of any mutation involving single base changes or small deletions. We have applied ARMS methodology to the detection of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Single ARMS tests have been developed for 11 CFTR mutations found in the northwest of England. ARMS reactions for the most common mutations have been multiplexed to give a test which will detect the presence of the delta F508, G551D, G542X, and 621 + 1G----T mutations in a DNA sample. The multiplex test has been validated by the analysis of over 500 previously genotyped samples and has been found to be completely accurate. The rapid detection of the most common mutations has enabled early molecular confirmation of suspected cystic fibrosis in neonates, rapid typing of cystic fibrosis patients and their relatives, and testing of sperm and egg donors.

Base Sequence↗
PubMed1988

Intrathecal synthesis of antibodies to human T lymphotropic virus type I and the presence of IgG oligoclonal bands in the cerebrospinal fluid of patients with endemic tropical spastic paraparesis.

Tropical spastic paraparesis (TSP), a neuromyelopathy predominantly involving the pyramidal tract and commonly observed in tropical and equatorial areas, was recently found to be associated with human T lymphotropic virus type I (HTLV-I). We investigated sera and cerebrospinal fluid (CSF) from 19 patients with TSP who were from the Caribbean area, French Guiana, and Africa. Our results showed an elevated intra-blood-brain barrier IgG synthesis rate and an elevated IgG index, with an increased HTLV-I antibody-to-albumin ratio and the presence of CSF oligoclonal bands in the majority of the patients. These data, in association with similar HTLV-I antibody patterns between patients with TSP who were from these three regions, strengthen the probable etiologic role of HTLV-I in the pathogenesis of such chronic neuromyelopathies.

Adult↗
PubMed1987

Antibodies to HIV in Israeli hemophiliacs: relationship between serological profile and disease development.

We studied 66 Israeli hemophiliacs for antibodies to HIV in blood samples collected between 1978 and 1985. By May 1985, 2 had AIDS, 2 had ARC, 4 had lymphadenopathy with some immunologic dysfunction, and 58 were asymptomatic. Antibodies to HIV were detected in 40 (60.6%) patients, including all 8 with disease. Presence of HIV antibodies was significantly associated with receipt of non-heat-treated commercial factor VIII concentrates (NHT fac VIII) between 1980 and 1983. Thirty-eight of 45 (84.44%) patients treated with NHT fac VIII developed antibodies to HIV, compared to 1 of 16 (6.25%) treated with cryoprecipitates and fresh plasma only. Of 40 seropositive patients, 1 (2.5%) had antibodies by 1980, 4 (10%) by 1982, 14 (35%) by 1983, 10 (25.0%) by 1984, and 11 (27.5%) by May 1985. The decline in the rate of seroconversion can be attributed to the replacement of NHT fac VIII concentrate with heat-inactivated factor VIII (HT fac VIII) concentrate by November 1983. As of January 1984 only HT fac VIII was administered. Twenty-nine multitransfused thalassemia patients as well as 20 healthy Israeli blood donors were seronegative to HIV. All 40 (100%) seropositive hemophiliacs had antibodies to viral env gene encoded gp120/gp160 antigens. Twenty-four (60.05%) also had antibodies to viral gag gene encoded p24 and/or p55 antigens. While antibodies to gp120/160 persisted during the follow-up time, a loss of antibodies to p24/55 was observed in 5 of 16 (31.25%) seropositive patients from whom multiple samples were available. gp120/160 positive, p24/55 negative hemophiliacs had significantly lower absolute T-helper cell counts and reversed Th/Ts ratios when compared to gp120/160 p24/55 seropositive patients. Four of the 16 (25.0%) asymptomatic gp120/160 positive, p24/55 negative patients developed overt disease within 15 months of the last blood collection. The data suggest that exposure to HIV antigens is widespread among hemophiliacs in Israel, and can be attributed to receipt of NHT fac VIII concentrates prior to 1984. Antibodies to gp120/160 are of the most important diagnostic value while loss of antibodies to p24/p55 may be of prognostic value.

AIDS-Related Complex↗
PubMed1985

Antigens of human T-lymphotropic virus type III/lymphadenopathy-associated virus.

Antigens encoded by the gag and env genes of the human T-lymphotropic virus type III/lymphadenopathy associated virus (HTLV-III/LAV) include a p55 gag polyprotein that yields p24 as the major virus core protein, and an env gene polyprotein, gp 160, that produces gp 120, the most immunogenic protein in humans, at the amino terminus. Although its use is limited to research laboratories due to the cost and specialized procedures involved, the analysis of sera by radioimmunoprecipitation and sodium dodecyl sulfate-polyacrylamide gel electrophoresis is the test providing the optimal balance of specificity and sensitivity. Because the gp 120 represents the external virus protein, it would be the most appropriate antigen for vaccine development. Also viruses serologically related to HTLV-III/LAV were detected recently in two species of Old World monkeys. Because about half the healthy African green monkeys appear to have been exposed to simian T-lymphotropic virus type III (STLV-III), a related agent of the species, a characterization of the STLV-III gp 120 and immune response of the host may provide additional information for vaccine development.

Africa↗
PubMed1984

HTLV and immunosuppression.

There is increasing evidence for the link between members of the human T-lymphotropic virus family and clinically important disease. We used indirect membrane immunofluorescence (IMI) to screen patient and control sera for antibodies to human T-cell leukemia virus (HTLV) specific cell membrane antigens (HTLV-MA) of HTLV-I and HTLV-III. Representative sera were screened for antibodies to specific HTLV-encoded proteins using radioimmunoprecipitation (RIP) with SDS-polyacrylamide gel electrophoresis (SDS-PAGE). Essentially all Japanese patients with adult T-cell leukemia/lymphoma (ATLL) from Miyazaki, Japan had detectable antibodies to HTLV-I-MA, further supporting the evidence for the probable etiologic relationship of HTLV-I and ATLL. While 16% of the healthy adults from this endemic region had antibodies to HTLV-I-MA, such antibodies were also found in 42% of the adults hospitalized in Miyazaki with severe infections diseases. Other studies have demonstrated HTLV-I antibodies in 12% of asymptomatic hemophiliacs examined from various U.S. cities. We have previously shown that HTLV-I status positive antibody in hemophiliacs is accompanied by a decrease in the number of T helper cells. Patients seropositive for antibodies to HTLV-I-MA regularly demonstrated antibodies to the env gene encoded gp61 proteins, while lower but significant proportions had antibodies to the gag and lor gene proteins. These and other observations suggest that infection with at least some strains of HTLV-I may be associated with mild or transient immunosuppression, in the absence of leukemia. Analysis by RIP indicated that gp61 and gp45, both encoded by the env gene of HTLV-I, are the most immunogenic proteins of the virus. The gp61 HTLV-I is highly crossreactive with gp67, the major env protein of HTLV-II. Patients with acquired immune deficiency syndrome (AIDS) were also examined for antibodies to HTLV-I-MA and antibodies to the gag, env, and lor gene proteins by RIP. Antibodies were detected in 38-75% of the patients, the higher percentage reflecting the presence of at least one positive sample in those individuals where more than three serial serum samples were tested. Numerous control groups were essentially seronegative for antibodies to HTLV-I proteins. When AIDS patient sera were examined for antibodies to HTLV-III, 95-100% were seropositive. Such antibodies were also found in the majority of asymptomatic Boston-areas hemophiliacs.(ABSTRACT TRUNCATED AT 400 WORDS)

Acquired Immunodeficiency Syndrome↗