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This study investigated whether nondipping (defined as a day–night change in blood pressure (BP) 0%) could be assumed as a diagnostic index for autonomic neuropathy, and assessed its accuracy in discriminating between type I diabetic patients with and without autonomic neuropathy. In 87 type I diabetic patients with normal renal function (age 36±11, duration 17±9 years, serum creatinine 67.2±15.9 μmol/l), four cardiovascular tests and 24-h BP monitoring were performed, and the percentage day–night change (Δ) in systolic (SBP) and diastolic BP (DBP) was calculated. Sixteen patients had ΔSBP and/or ΔDBP 0%. In a multiple logistic regression with adjustment for sex, age, and body mass index, the odds ratio for having autonomic neuropathy was seven times higher in patients with ΔSBP 0% as opposed to those without (odds ratio 6.97, CI 1.4–34.9, P=0.018). Using Receiver Operating Characteristic (ROC) analysis, ΔBP showed an acceptable accuracy in discriminating between patients with and without autonomic neuropathy (area under the ROC curve 0.69±0.06 and 0.72±0.05 for ΔSBP and ΔDBP, respectively). Adequate cutoff values were 0% for ΔSBP (sensitivity, 26%; specificity, 95%; positive predictive value, 87%) and 5% for ΔDBP (sensitivity, 26%; specificity, 92%; positive predictive value, 81%). In type I diabetic patients with normal renal function, a value of ΔSBP 0% identifies the presence of autonomic neuropathy with a very high chance. Nondipping at the cutoff proposed could be considered an adjunctive marker of autonomic neuropathy provided with a high specificity and low sensitivity.Journal of Human Hypertension (2007) 21, 381–386. doi:10.1038/sj.jhh.1002162; published online 15 February 2007 [ABSTRACT FROM AUTHOR]

Abstract: Background: The SRY gene encodes for a testis-specific transcription factor (TDF, testis determining factor) that plays a key role in sexual differentiation and development in males. Several SRY mutations have been described in patients with gonadal dysgenesis, accounting for 10–15% of the sex reversal cases. The reported mutations are both point mutations and deletions, mostly involving the high mobility group (HMG) box domain of SRY, which is a conserved region through the evolution, suggesting that SRY function strictly depends on the HMG box. Case presentation: Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis caused by SRY mutation located within the conserved HMG box. Using DNA direct sequencing of the SRY coding region, we identified a single nucleotide insertion at codon 89 with subsequent frameshift of the reading frame sequence, which results in a truncated protein as consequence of an introduction of a stop codon at the position 103. Conclusion: A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. The described case is of importance for genetic counseling. [Copyright &y& Elsevier]

OBJECTIVEAndrogens are essential in the maintenance of nitric oxide-mediated erectile activity in the rat. The objective of the present study was to investigate the role of androgens in regulating trabecular smooth muscle relaxation in the corpus cavernosum in response to vasoactive challenge in men with erectile dysfunction (ED). DESIGNRetrospective, double-blind correlation analyses. PATIENTSFifty-two impotent patients without confounding risk factors for ED were obtained from a total of 250 undergoing diagnostic evaluation. MEASUREMENTSAll patients had dynamic colour duplex ultrasound (D-CDU) and hormonal evaluation for LH, total and free testosterone, SHBG and oestradiol. RESULTSBased upon D-CDU results patients were diagnosed as having arteriogenic (AR, n = 18; mean age 51) or corporeal venocclusive (CVO, n = 13; mean age 49) ED; in other patients (n = 21, mean age 43) a diagnosis of psychogenic (P)-ED was made by comprehensive psychogenic testing and confirmed by normal D-CDU results. AR and CVO patients had altered compliance of cavernous arteries recorded by D-CDU [20–25% lower resistive index (RI) than patients with psychogenic ED], and lower free testosterone (FT) levels than psychogenic patients [42.3 ± 3.5 SE and 49.3 ± 5.2 vs. 75.2 ± 7.6 pmol/l, respectively; P < 0.01]. More important, in all patients there was a strong direct correlation between resistive index values and FT levels (r = 0.47, P = 0.002); the relationship was maintained also when adjusted for age, SHBG and oestradiol (r = 0.37, P = 0.02). CONCLUSIONSThese results indicate that in men with erectile dysfuntion low free testosterone may correlate independently of age with the impaired relaxation of cavernous endothelial and corporeal smooth muscle cells to a vasoactive challenge. These findings give clinical support to the experimental knowledge of the importance of androgens in regulating smooth muscle function in the penis. [ABSTRACT FROM AUTHOR]

During penile pharmacotesting, anxiety may overcome complete smooth muscle relaxation and lead to false positive diagnosis of organic male erectile dysfunction (ED). We tested the efficacy and safety of re-dosing of PGE[sub 1] alone versus combination of PGE[sub 1] and the α[sub 1,2]-blocker phentolamine (PHE) to improve an incomplete pharmaco-induced erection during color-power-Doppler (CPD) sonography. 116 consecutive impotent patients were submitted to CPD and injected with 10 µg PGE[sub 1] plus audiovisual sexual stimulation. Clinical evaluation of rigidity and CPD parameters were normal in 26 patients while in the remaining they were upgraded in 15% and 35% after redosing of 10 µg PGE[sub 1] alone and 10 µg PGE[sub 1] plus 1 mg PHE, respectively (P < 0.05); furthermore, in these latter patients CPD studies showed increased visualisation of distal ramifications of helicine arterioles. The final diagnosis was changed in those patients who responded to re-dosing with no differences in the occurrence of prolonged erections between the two treatments. We conclude that re-dosing of PGE[sub 1]/PHE mixture is a safe and effective procedure to maximize erectile response during dynamic CPD sonography and has a better diagnostic sensitivity than re-dosing of PGE[sub 1] alone. [ABSTRACT FROM AUTHOR]

Presents studies related to the therapy of erectile dysfunction. Effects of sildenafil on cardiopulmonary responses during stress; Effects of intrinsic and extrinsic factors on the pharmacokinetic properties of tadalafil; Combination oral therapies of apomorphine, phentolamine and papaverine for erectile dysfunction.