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K Jefferson

Publications and source records attributed to K Jefferson.

At least 19 recordsLinked to original sources
PubMed2000

Impulsiveness, serotonin genes and repetition of deliberate self-harm (DSH).

BACKGROUND: Few studies have investigated independent associations of psychological, biological and social variables with repeated deliberate self-harm (DSH). Serotonin function has been linked to impulsive and suicidal behaviour and genetic polymorphisms have been identified within the serotonin system that could account for this link. This study tested hypotheses linking impulsiveness, genetic polymorphisms of tryptophan hydroxylase (TPH) and the 5-HT2c receptor and repeated DSH. METHODS: Individuals presenting after DSH were interviewed, completed personality questionnaires and gave venous blood samples. Genotypes were determined for TPH intron7 and 5-HT2c (cys-ser) polymorphisms. Follow-up to identify repetition of DSH was for 1 year. RESULTS: Males with the 5-HT2c serine variant were more impulsive than those with the cysteine variant (039 standardized units, P = 0.041, 95% CI 0.017 to 0.076). There was no association between impulsiveness and the TPH intron7 polymorphism overall but a weak association with the L allele in men (0.41 standardized units, P = 0.05, 95 % CI 0.001 to 0.82). Impulsiveness, although high in the group as a whole, did not distinguish those who repeated DSH. CONCLUSIONS: The personality trait of impulsiveness may in part be related to genotypes of the 5-HT2c receptor and TPH gene in men. Impulsiveness does not differ between those who do and do not repeat DSH.

Adult↗
PubMed1999

No coding variant of the tryptophan hydroxylase gene detected in seasonal affective disorder, obsessive-compulsive disorder, anorexia nervosa, and alcoholism.

BACKGROUND: The goal of this study was to evaluate the role of genetic variation in the coding sequence of tryptophan hydroxylase (TPH) in the pathogenesis of several psychiatric diseases in which altered serotonin function has been implicated: bipolar affective disorder (BP), obsessive-compulsive disorder (OCD), anorexia nervosa (AN), seasonal affective disorder (SAD), panic disorder (PD), and alcoholism (Alc). METHODS: Ninety-three percent of the TPH coding sequence was screened by polymerase chain reaction single-strand conformation polymorphism (SSCP) for DNA sequence variations in 128 AN, 88 OCD, 72 SAD, 45 PD, and 36 BP patients and 142 normal volunteers. Also included in the screening were 61 Alc randomly selected from a Finnish alcoholic population in which an association of a TPH intron 7 polymorphism with suicidality was previously observed. Polymorphisms detected by SSCP were characterized by DNA sequencing and by allele-specific restriction enzyme digestion. Genotyping was then performed in 34 Finnish alcoholic suicide attempters. RESULTS: A rare silent mutation was identified in exon 10 and is designated T1095C. The C1095 allele was found in 1 OCD and in 2 AN subjects; all 3 individuals were heterozygous (C1095/T1095) for the variant allele. No association was observed between this TPH T1095C variant with either OCD, AN, Alc, or suicidality. CONCLUSION: These results suggest that the coding sequence of the TPH gene does not contain abundant variants, and may not play a major role in vulnerability to several psychopathologies in which reduced serotonin turnover has been implicated.

Alcoholism↗
PubMed1999

An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping.

Human paternal population history was studied in 9 populations [three Native American, three Asian, two Caucasian and one African-derived sample(s)] using sequence and short tandem repeat haplotype diversity within the non-pseudoautosegmal region of the Y chromosome. Complete coding and additional flanking sequences (949 base pairs) of the RPS4Y locus were determined in 59 individuals from three of the populations, revealing a nucleotide diversity of 0.0147%, consistent with previous estimates from Y chromosome resequencing studies. One RPS4Y sequence variant, 711C > T, was polymorphic in Asian and Native American populations, but not in African and Caucasian population samples. The RPS4Y 711C > T variant, a second unique sequence variant at DYS287 and nine Y chromosome short tandem repeat (YSTR) loci were used to analyze the evolution of Y chromosome lineages. Three unambiguous lineages were defined in Asian, Native American and Jamaican populations using sequence variants at RPS4Y and DYS287. These lineages were independently supported by the haplotypes defined solely by YSTR alleles, demonstrating the haplotypes constructed from YSTRs can evaluate population diversity, admixture and phylogeny.

Alleles↗
PubMed1976

Septal lines in pure right heart failure.

Two adult patients are described with pure right heart failure and chronically elevated systemic venous pressure. Neither patient had evidence of pulmonary venous hypertension, but both had septal lines. This unusual finding may be the result of impaired centripetal lymph flow in the lungs due to obstruction of the drainage of the thoracic duct by raised systemic venous pressure.

Adolescent↗
PubMed1975

Association of secundum atrial septal defect with abnormalities of atrioventricular conduction or left axis deviation. Genetic study of 10 families.

A genetic analysis was made of 10 families in which the propositi had a secundum atrial septal defect associated with abnormal atrioventricular conduction (first, second, or third degree heart block) or unexplained left axis deviation or a combination of these conduction disturbances. Diagnostic information was available on 51 (81%) of the first degree relatives. Three of the families appeared to be examples of a new syndrome which, with variable expression, was inherited as a non-sex-linked autosomal dominant. The main features were a secundum atrial septal defect; disease of the conducting tissue, which in some cases was progressive; unexplained left axis deviation; and unexpected death. These families did not seem to be examples of the Holt-Oram syndrome, for the upper limbs were clinically and radiologically normal in the 19 members examined. The importance of recognizing this syndrome is the occurrence of progressive disease of the conducting tissue and the risk of sudden death. When, therefore, unexplained left axis deviation or prolonged atrioventricular conduction is found in association with a secundum atrial septal defect all available relatives should be examined. In the remaining seven families there was only one affected first degree relative out of 39 examined. He was the son of one of the propositi and had paroxysmal coronary sinus rhythm with an intact atrial septum.

Adolescent↗
PubMed1972

Venous graft surgery in treatment of coronary heart disease.

Sixty-seven patients have had aortocoronary venous graft bypass surgery by one surgeon for the relief of symptoms of severe coronary heart disease, including eight emergency operations. The overall operative, hospital, and late mortality was low in patients with favourable myocardial function and no previous myocardial infarction. There was a 7% mortality in patients with a normal preoperative chest radiogram, 8% mortality when the left ventricular end-diastolic pressure was normal preoperatively, and a 5% mortality in patients who had normal left ventricular angiograms. The overall mortality in all elective operations for cardiac pain resistant to medical treatment was 15.8%. 89% of survivors improved; 67% are pain-free. Exercise tolerance in survivors is increased by 135%, atrial pacing results are improved by 10%. Left ventricular end-diastolic pressure is unchanged. Left ventricular function on angiography is improved. The improvement in left ventricular function assessed objectively correlates positively with vein-graft patency, as does freedom from angina pectoris.

Adult↗