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Patent ductus arteriosus in Malaysia

Singham KT, Wong HO

Aust N Z J Med, 1979 Apr;9(2):174-6.
PMID: 287460 DOI: 10.1111/j.1445-5994.1979.tb04323.x

Findings are reviewed of isolated Patent Ductus Arteriosus after infancy as seen in 181 patients studied at the University Hospital, Kuala Lumpur, during the period 1967 to 1975. The ages of patients ranged from nine months to 54 years. Eighty-two patients underwent cardiac catheterization. More than 50% of patients were above ten years of age; the sex ratio was 1 male: 2.93 females. Thirty-two per cent of the patients had significant effort dyspnoea or were in heart failure. The complications noted were elevated pulmonary vascular resistance, Eisenmenger syndrome, bacterial endocarditis and cardiac failure.
Fulltext Primary arteritis of aorta causing renal artery stenosis and hypertension

Danaraj TJ, Wong HO, Thomas MA

Br Heart J, 1963 Mar;25(2):153-65.
PMID: 14024854

The evidence presented by the nine cases described in this paper indicates that primary arteritis of the aorta is a single clinico-pathological entity of which Takayashu's syndrome is a part. Different segments of the aorta may be affected resulting in a variety of symptom complexes. In this series, the mode of presentation was hypertension consequent on renal artery stenosis. Early diagnosis is important and surgical treatment is indicated to relieve the hypertension which carries an immediately serious prognosis.
Fulltext Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54]

Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, et al.

Eur Urol, 2018 Sep;74(3):e85-e86.
PMID: 29853305 DOI: 10.1016/j.eururo.2018.05.017
Fulltext Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma

Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, et al.

Eur Urol, 2017 Nov;72(5):747-754.
PMID: 28797570 DOI: 10.1016/j.eururo.2017.07.015

BACKGROUND: Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings.
OBJECTIVE: We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations.
DESIGN, SETTING, AND PARTICIPANTS: Genotypes from nine telomere length-associated variants for 10 784 cases and 20 406 cancer-free controls from six genome-wide association studies (GWAS) of RCC were aggregated into a weighted genetic risk score (GRS) predictive of leukocyte telomere length.
OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Odds ratios (ORs) relating the GRS and RCC risk were computed in individual GWAS datasets and combined by meta-analysis.
RESULTS AND LIMITATIONS: Longer genetically inferred telomere length was associated with an increased risk of RCC (OR=2.07 per predicted kilobase increase, 95% confidence interval [CI]:=1.70-2.53, p<0.0001). As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R2>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001). Exploratory analyses for individual histologic subtypes suggested comparable associations with the telomere length GRS for clear cell (N=5573, OR=1.93, 95% CI=1.50-2.49, p<0.0001), papillary (N=573, OR=1.96, 95% CI=1.01-3.81, p=0.046), and chromophobe RCC (N=203, OR=2.37, 95% CI=0.78-7.17, p=0.13).
CONCLUSIONS: Our investigation adds to the growing body of evidence indicating some aspect of longer telomere length is important for RCC risk.
PATIENT SUMMARY: Telomeres are segments of DNA at chromosome ends that maintain chromosomal stability. Our study investigated the relationship between genetic variants associated with telomere length and renal cell carcinoma risk. We found evidence suggesting individuals with inherited predisposition to longer telomere length are at increased risk of developing renal cell carcinoma.