The effect of resecting the primary tumour on the Doppler Perfusion Index in patients with colorectal cancer

AIM: In patients undergoing apparently curative resection for colorectal cancer, an elevated Doppler Perfusion Index (DPI; ratio of hepatic arterial to total liver blood flow) before surgery is associated with a high risk of recurrence. The role of the primary tumour in inducing and sustaining these blood flow changes is unknown. The aim of this study was to assess the impact of removing the primary tumour on the DPI. MATERIALS AND METHODS: Using duplex/colour Doppler sonography, the DPI was measured both before and after surgery (median, 9 months) in 14 patients undergoing apparently curative resection for colorectal cancer. RESULTS: In the five patients with a normal pre-operative DPI (< 0.30), there was no significant change following surgery. In the nine patients with an abnormal pre-operative DPI, there was a small but significant fall from 0.38 (SEM 0.02) to 0.33 (0.02) following surgery (P = 0.04). However, DPI values remained abnormally elevated in seven of these nine patients. CONCLUSION: These results suggest that the primary tumour plays a relatively minor role in inducing an abnormally elevated DPI in patients undergoing apparently curative resection for colorectal cancer.Oppo, K. (2000). Clinical Radiology55, 791-793.     

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein–Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype–phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300.     

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin‐α2‐chain gene: A chance association or a novel phenotype?

Patients with a partial reduction of merosin due to mutations in the laminin‐α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb‐girdle–like muscular dystrophy. To our knowledge, cardiac impairment has never been reported in such patients. A longitudinal study of a patient with partial laminin‐α2 deficiency secondary to mutations in the LAMA2 gene revealed dilated cardiomyopathy with ventricular arrhythmias. Is this a chance association or a novel phenotype? Muscle Nerve, 2011     

Serum sex hormones in men occupationally exposed to dichloro-diphenyl-trichloro ethane (DDT) as young adults

To explore endocrine effects in relation to para,para'-dichloro-diphenyl-dichloro ethylene (p,p'-DDE) body burden and past occupational exposure to its precursor dichloro-diphenyl-trichloro ethane (DDT), we assayed serum sex hormones, including serum luteinizing hormone (LH), follicle-stimulating hormone (FSH), 17beta-estradiol (E2), testosterone and sex hormone binding globulin (SHBG), and p,p'-DDE levels in 107 male participants in a 1946-1950 anti-malarial campaign in Sardinia, Italy. Cumulative DDT exposure during the anti-malarial operations was retrospectively estimated from detailed reports of the anti-malarial agency. Ortho,para-DDE, and its precursor ortho,para-DDT were always below the detection limit. p,p'-DDT was detected in 14/107 subjects, and p,p'-DDE in 106/107 subjects. The median lipid-adjusted p,p'-DDE serum concentration over the total study population was 396 parts per billion (interquartile range 157-1045), and it did not vary according to the job at the time of anti-malarial operations, nor was it affected by cumulative DDT exposure. LH, FSH, and SHBG, but not testosterone or E2, showed a significant positive correlation with age. Neither current serum p,p'-DDE nor past cumulative DDT exposure affected sex hormone concentrations. Our results suggest that (1) the low current p,p'-DDE serum concentration does not affect serum hormone levels, and (2) past cumulative DDT exposure is not correlated with the current p,p'-DDE serum level, nor does it show persistent effects on serum hormone levels.