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Biomedical subjects

J Hull

Publications and source records attributed to J Hull.

At least 55 records · Page 3Linked to original sources
PubMed1994

Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.

Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an extensive mutation search. The whole of the coding region of the CFTR gene, all intron-exon boundaries and 5' and 3' untranslated regions have been examined by a combination of single stranded conformational polymorphism analysis and chemical mismatch detection; 48 chromosomes with rare mutations have been identified, including 7 novel mutations, 182delT in exon 1, G27X in exon 2, Q151X in exon 4, Q220X in exon 6a, Q525X in exon 10, 3041delG in exon 16, and 4271delC in exon 23.

Base Sequence↗
PubMed1994

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.

Ten to fifteen percent of CF chromosomes carry mutations which are not detected by routine screening of the CFTR gene for known mutations. Many techniques have been used to screen the CFTR gene for these remaining mutations. Most of the methods use genomic DNA, and since the CFTR gene contains 27 exons, are necessarily labour intensive. We have screened the entire coding region of CFTR, by chemical cleavage of 7 overlapping segments of amplified cDNA. Using this method we have identified 4 sequence changes which had not been detected by screening genomic DNA, and successfully detected 10 out of 13 known mutations. In addition, we have identified 8 alternatively spliced forms of CFTR mRNA, 4 of which have not been described previously. These include transcripts lacking a) exon 3, b) exons 2 + 3, c) exons 9 + 12, and d) the final 357 bp of exon 15 as a result of use of the cryptic splice donor site CA2863/GTTCGT).

Base Sequence↗
PubMed1994

ERP and behavioral changes during the wake/sleep transition.

Event-related potentials (ERPs) following infrequent and frequent stimuli were studied as subjects moved from wakefulness to sleep. Subjects were instructed to respond to the infrequent "target" stimuli (attend condition) or to ignore the stimuli (ignore condition). Parietal P300, prominent following target ERPs in wakefulness under the attend condition, disappeared in association with reduced behavioral responsiveness and emergence of a central negativity (N350). The N350 and preceding and following positivities (P220 and P450) became the dominant feature of both target and nontarget ERPs under both attend and ignore conditions. The P220-N350-P450 complex was larger and peak latencies were shorter under the attend condition. Peak amplitudes tended to be larger following targets, especially under the attend condition. The findings suggest that, although the processes underlying P300 are less likely to be engaged, processing of stimulus deviance and task relevance continues in sleepiness and sleep, and is reflected by variance in N350 and related activity.

Adolescent↗
PubMed1993

Cloning and chromosomal mapping of mouse seminal vesicle protein F.

Seminal vesicle proteins (SVPs) are made by male rodents, and form the copulatory plug following mating. Here we report a partial nucleotide sequence of a mouse clone homologous to rat SVP F. Unexpectedly, we found that SVP F-related transcripts are expressed at high levels in mouse skeletal muscle. We mapped mouse SVP F to mouse chromosome 15 using somatic cell hybrid lines.

Animals↗
PubMed1993

Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.

Three different putative splicing mutations in the CFTR gene have been studied by analysing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Six patients were analysed, all of whom had classical symptoms of cystic fibrosis (CF). Two patients carried the 621 + 1G-->T mutation, 3 patients carried the 1717 - 1G-->A mutation and 1 patient carried the 1898 + 1G-->A mutation. All patients carried the delta F508 mutation on the other chromosome. Ten non-CF control subjects were also studied. The 621 + 1G-->T mutation resulted in activation of an alternative splice site within exon 4 in one patient and activation of this site or skipping of exon 4 in the other patient. The 1717 - 1G-->A mutation resulted in skipping of exon 11 in all 3 patients studied and the 1898 + 1G-->T mutation resulted in skipping of exon 12. These experiments demonstrate that these mutations do result in aberrant splicing of CFTR mRNA as predicted from the changes in genomic sequence.

Base Sequence↗
PubMed1992

Pain perception in self-injurious patients with borderline personality disorder.

Pain ratings during the cold pressor test were significantly lower in female inpatients with borderline personality disorder who report that they do not experience pain during self-injury (BPD-NP group, n = 11), compared with similar patients who report that they do experience pain during self-injury (BPD-P group, n = 11), and normal female subjects (n = 6). Pain ratings were not significantly different in the BPD-P and normal control groups. Self-report ratings of depression, anger, anxiety, and confusion were significantly lower, and ratings of vigor significantly higher following the cold pressor test in the BPD-NP group, but not in the BPD-P group. Only anxiety was significantly lower in the normal control group following the cold pressor test. The implications and limitations of these preliminary findings are discussed.

Adolescent↗
PubMed1992

Falling incidence of hypoxic-ischaemic encephalopathy in term infants.

OBJECTIVE: To examine trends in the incidence of hypoxic-ischaemic encephalopathy over a 13-year period. DESIGN: A retrospective analysis of medical records of all infants admitted in the years 1976-1980 and 1984-1988. SETTING: A large non-teaching district health authority in central England. SUBJECTS: Infants admitted to a district general hospital neonatal unit with clinical features of hypoxic-ischaemic encephalopathy. MAIN OUTCOME MEASURES: Incidence of three grades of hypoxic-ischaemic encephalopathy, handicap and mortality. RESULTS: During the first 5-year period the overall incidence of hypoxic-ischaemic encephalopathy was 7.7 per 1000 live births with 2.6 per 1000 live births being severely affected (grades II and III). In the second 5-year period the overall incidence was 4.6 per 1000 live births with 1.8 per 1000 live births being severely affected. The difference in the overall rate is statistically significant. Of the infants with severe encephalopathy 61% had Apgar scores below 4 at 1 min and 60% were born by instrumental or operative delivery. CONCLUSIONS: The fall in incidence of hypoxic-ischaemic encephalopathy has occurred during a period of falling perinatal mortality rate. It was instructive to find that infants born vaginally and without obstetric intervention formed a larger fraction of the severely affected infants in the later period.

Brain Ischemia↗
PubMed1987

Antigenically important proteins of Aujeszky's disease (pseudorabies) virus identified by immunoblotting.

Immunoblotting was used to identify those Aujeszky's disease virus proteins which elicited major antibody responses in naturally and experimentally infected pigs. Although some proteins comprising purified virus preparations reacted nonspecifically, proteins with mol. wts. of 120 K, 90 K, 71 K and 60 K were antigenically important. These corresponded in size to the virus glycoproteins identified by 3H-glucosamine labelling. Glycoproteins isolated by affinity chromatography from infected PK 15 cells solubilised by Triton X-100 (Triton-soluble glycoproteins) contained antigenic components similar in size to virus glycoproteins and produced minimal non-specific immunoblotting reactions. Antibody responses to the 120 K and 71 K proteins usually occurred together and were more pronounced than responses to other proteins especially at early times postinfection.

Animals↗
PubMed1986

The preferred environmental temperature of newborn rabbits.

The preferred environmental temperature (TE) and rates of oxygen consumption (VO2) around the thermal neutral range were measured in rabbits on the day of birth and 2, 7 and 14 days after birth. On day 0, the preferred TE was 38.0 +/- 0.8 degrees C, and it fell to 30.4 +/- 0.5 degrees C by day 14. Day-0 rabbits kept for 1 h in a warm (41 degrees C), neutral 39 degrees C) or cool (28 degrees C) environment selected a different TE at 39.8, 39.5 and 37.3 degrees C, giving colonic temperatures (TC) of 40.8, 39.9 and 37.7 degrees C, respectively. A similar phenomenon occurred on day 2, but not on day 7. It was concluded that newborn rabbits select a TE to match that which they experienced in utero and that this preferred TE changes after birth depending on the temperature of their surroundings and the development of their thermoregulatory control.

Aging↗
PubMed1984

Spermatic cord block and manual reduction: primary treatment for spermatic cord torsion.

A total of 16 consecutive cases of acute torsion of the spermatic cord less than 24 hours in duration are presented. All patients were diagnosed and treated initially by spermatic cord blockade and attempted manual detorsion. Of the 16 patients 15 underwent successful detorsion under local anesthesia. All patients underwent subsequent bilateral orchiopexy. Testicular salvage was 93 per cent in those patients who underwent successful detorsion by manipulation.

Adult↗
PubMed1982

Behavioral thermoregulation in newborn rabbits.

Newborn rabbits show behavioral and physiological thermoregulatory responses within the first hours of life. Although the mother prepares a nest for her young, she does not stay with them. The hairless immature young survive by huddling together in the nest. In this study, ambient temperature had a powerful influence on the behavior of newborn rabbits, and, providing they were warm, they did not huddle. The rabbits were studied over the first 10 days of life during which time their fur grows rapidly and their body weight nearly trebles. As each day passed, their preferred environmental temperature fell. In these observations smell and contact with littermates did not appear to have a major effect.

Animals↗
PubMed1979

Psychiatric referrals in general practice.

A major option available to the nonpsychiatric physician in dealing with patients who have psychiatric problems is to refer them to psychiatrists. A group of 93 nonpsychiatric physicians indicated that they have positive attitudes toward making such referrals where appropriate, and make extensive use of this mechanism with psychiatric patients. There are, however, great differences of opinion with respect to the appropriateness of psychiatric referrals for neurotic patients, those with alcohol and addiction problems, and those with other personal problems (marital, vocational, etc).

Alcoholism↗
PubMed1979

Factors influencing styles of medical practice: the use of psychiatric referrals by non-psychiatric physicians.

There is substantial variation between physicians in the extent to which they employ psychiatric referral as a mechanism for dealing with their patients who have psychiatric problems. A variety of factors, including personal characteristics, professional attitudes, training and practice characteristics, were hypothesized to influence styles of practice in this area of medicine. A regression equation with a multiple R of .71 indicated that personal characteristics and attitudes were particularly strongly related, but that practice and patient characteristics as well as training also play some role in influencing a physician's behavior.

Attitude of Health Personnel↗