Dyskeratosis congenita associated with leukoplakia of the tongue.

Dyskeratosis congenita (DC) is an inherited disease characterized by the triad of skin pigmentation, nail dystrophy, and oral leukoplakia. Among other abnormalities, bone marrow failure and a predisposition to cancer are recognized as the major causes of premature mortality in patients with DC. This disease is associated with short telomeres and mutations in 10 genes associated with telomerase and telomere components. The case of a 35-year-old male patient diagnosed with DC, who presented with leukoplakia of the tongue and had a high degree of hypoplastic marrow, but no haematological abnormalities, is reported here. The diagnosis of DC was confirmed by detection of short telomeres in the blood cells and mutations in the DKC1 gene. This encounter with the case presented suggests that an awareness of the classical forms of DC is important for oral clinicians so that an early diagnosis can be made and the patient can be managed appropriately. Furthermore, genetic analysis is necessary to establish the diagnosis of DC.

Sperm output in patients with primary infertility and hepatitis B or C virus; negative influence of HBV infection during concomitant varicocele.

AIM: The aim of this study was to evaluate the sperm abnormalities in young infertile patients with hepatitis B (HBV) or C (HCV) virus infection and to evaluate the additional negative influence of varicocele on sperm parameters in these patients. METHODS: Part I. Forty-two infertile patients in Child-Pugh classification A with HBV (n=23) or HCV (n=19) infection, underwent sperm analysis and quantitative detection of HBV-DNA or HCV-RNA in blood serum. Sperm parameters were compared to those of a group of 30 patients with primary infertility due to causes different from liver diseases and/or varicocele). Part II. Twenty-one infertile patients with varicocele associated to HBV (n=11) or HCV (n=10) infection were also enrolled and underwent semen analysis: a group of 39 patients without liver disease, but with varicocele alone served as matched-control group. RESULTS: Part I. HBV patients (with a median HBV-DNA load of 6x10(5) copies/mL, range 1x10(5)-10x10(6)) showed median sperm parameters (sperm density, total number, forward motility and morphology, viability) significantly worse than those found in patients with HCV (with a median HCV-RNA load of 2.3x10(6) copies/mL, range (2x10(5)-12x10(6)). Sperm parameters showed no significant correlation with the duration of infertility neither with the duration of viral infection. Sperm morphology only, exhibited a trend (P=0.06) of negative correlationship (r=-0.59) with the viral HBV-DNA load, whereas the other sperm parameters studied showed no correlation with the viral load. Part II. The group of infertile patients with HBV and varicocele showed median values of all sperm parameter evaluated significantly worse than those found in infertile patients with varicocele alone, or with HCV infection plus varicocele. CONCLUSIONS: Patients with HBV infection show worse sperm parameters compared with HCV patients. The additional presence of varicocele further impairs sperm output in HBV patients.

Tadalafil and modifications in peak systolic velocity (Doppler spectrum dynamic analysis) in the cavernosal arteries of patients with type 2 diabetes after continuous tadalafil treatment.

AIM: In this study peak systolic velocity (PSV) was measured by penile duplex Doppler spectrum dynamic analysis in diabetic patients with erectile dysfunction (ED) administered continuous treatment with tadalafil for 3 months in a weekly regimen (Monday-Wednesday-Friday). Responses to the Structured Interview on Erectile Dysfunction (SIEDY) questionnaire and hormonal blood levels (LH, testosterone, prolactin) were studied before and after treatment. METHODS: The study sample was 20 diabetic patients (mean age 60 years; range 55-65) with organic vascular arterial ED at enrollment into the study. All patients were eligible for receiving tadalafil. Patients were randomly assigned to 2 different treatment groups according to a computer-generated list. The first random set of numbers was assigned to group A, the second to group B. Group A (n=10) received tadalafil 20 mg per os on demand for 3 months (Cialis, Lilly ICOS; London, UK). Group B (n=10) received tadalafil 20 mg per os on weekly fixed days (Monday-Wednesday-Friday) for 3 months. All patients underwent duplex penile sonographic dynamic evaluation after intracavernosal injection of alprostadil 20 microg (Caverject, Pharmacia SpA; Milan, Italy); SIEDY questionnaire responses and changes in blood hormonal levels (LH, testosterone, prolactin) before and after treatment were compared. RESULTS: Increased PSV at 10 min and 20 min after alprostadil administration was found in 30% of Group A patients and in 60% of Group B patients. In 40% of Group B patients, the increase in PSV was so significant as to justify reclassification to a less severe diagnostic category (Benson classification) in vascular profile. No changes in hormonal levels after treatment were found in either group. Analysis of the questionnaires showed a more marked reduction in the global total scores in Group B, with a greater frequency and a clearer improvement in global scores. CONCLUSIONS: This study on a group of 20 patients with organic vascular arterial ED disclosed at least 2 basic aspects: 1) a higher percentage of Group B patients (fixed-day treatment regimen) showed a greater improvement in PSV than the controls; 40% of these patients were reclassified according to the Benson classification; 2) within the context of a clinical study, monitoring and supportive care to increase the frequency and quality of sexual intercourse led to a resumption of and a greater interest in sexual activity. This finding cannot be explained by changes in hormonal levels; instead, there appeared a sort of effect placebo that the continuous therapy, like conventional treatment for other health reasons, had on the patient.

Hyperhomocysteinemia in preeclampsia is associated to higher risk pressure profiles.

Homocysteine levels have been determined with Chromatography on HPLC column, between the 20th and the 24th week of pregnancy, in women with analogous characteristics (a) normotensive, (b) with pregnancy-induced hypertension (PIH), low (LR), medium (MR), high risk (HR). The group they belonged to was confirmed after natural or caesarean delivery. All the patients were submitted to 24 hour blood pressure monitoring for the evaluation of further pressure risk parameters: mean arterial pressure (MAP), non dippers, percentages of pressure peaks. Homocysteine levels in normotensive pregnant women (5.8 +/- 1.7 microM) were low. Significant high levels of homocysteine were present proportionally to the risk degree of PIH. Higher levels of homocysteine statistically significant were present in non dippers of all groups (MR p < 0.05; HR p < 0.01). A direct correlation between plasmatic homocisteine levels and pressure profiles was found out in non dippers (r = 0.56, r = 0.55, r = 0.50 respectively) and in dippers (r = 0.7, r = 0.75, r = 0.60 respectively), and also between levels of homocysteine, MAP value, and pathological percentages of systolic and diastolic nocturnal peaks. In pregnant women presenting preeclampsia afterwards, high levels of homocysteine were not different from mean values present in high risk PIH pregnant women (13.3 +/- 1.9 vs. 16.4 +/- 1.7 microM). High levels of homocysteine early determined in the second trimester of PIH pregnancies seem to be associated to a pregnancy higher risk, coexisting with dangerous pressure profiles. High levels confirm a pregnant woman to belong to a higher or lower risk degree of vascular damage, but in the same group context high levels of homocisteine do not allow to identify those pregnant women who will develop eclampsia.

Hyperhomocysteinemia in menopausal hypertension: an added risk factor and a dangerous association for organ damage.

Hyperhomocysteinemia is widely recognised as an emerging risk factor of endothelial dysfunction and vascular damage. In this study we wanted to verify if it, when associated to arterial hypertension--traditional risk factor--represents a higher added risk of organ damage during menopause, which is a condition connected to a higher incidence of cerebrovascular diseases. A survey of 30 postmenopausal women with similar characteristics (BMI, age, absence of relevant pathologies such as diabetes, metabolic disorders and absence of smoking) was selected (menopause had occurred from 12 to 16 months at the moment of observation). At the moment of the observation they had not gone through any continuous pharmacological therapy. They were subdivided into 3 groups: normotensive; hypertensive (with 2nd degree hypertension: mild to moderate) without organ damage; hypertensive with organ damage (TIA, ischaemic heart disease, etc.). The carotid IMT, measured with ultrasound method, was considered as an organ damage parameter. 43% of the patients had high levels of homocysteine (> 15 micromol/l), which are levels considered at risk in other surveys. The highest levels of homocysteine were recorded in hypertensive women with episodes of acute cerebrovascular damage (micromol/l = 24.3 +/- 8.9). In this group, a positive correlation (r = 0.7) was obtained between homocysteine levels and carotid IMT. The possible coexistence of hyperhomocysteinemia and arterial hypertension, even though without particularly high values for both of them, in menopause may represent a dangerous association responsible for a significant organ damage and, therefore, for acute cerebrovascular events.