Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years

Congenital vascular malformations represent a wide number of diseases with a great variability of clinical features. The association between congenital vascular malformations and peripheral aneurysms is very rare. The present study reports a case of giant superficial femoral artery aneurysm (7-cm-long) associated with Parkes-Weber syndrome (capillary malformation, multiple arteriovenous fistulas [AVFs], skeletal hypertrophy of the affected limb) treated by positioning two covered self-expandable endoprostheses after embolization of AVFs with Gianturco coils. The peri- and postoperative course was uneventful and the postprocedural angiography showed the complete exclusion of the aneurysm sac. At last follow-up, after 87 months, the duplex scan and computed tomography scan showed regular patency of the vessels with thrombosis of the aneurysm sac and the presence of a large number of AVFs. The association between Parkes-Weber syndrome and peripheral aneurysms represents a very unusual entity. The lack of evidence does not allow the establishment of the most suitable treatment for this disease. Endovascular approach associated with previous embolization of AVFs may represent a valid alternative to traditional surgical repair, which is still burdened by a high percentage of complications and failures.     

Blood pressure in acute ischemic stroke and mortality: a study with noninvasive blood pressure monitoring

BACKGROUND: In acute ischemic stroke, a transient elevation of blood pressure is common; its significance and its relationship with the neurological outcome are still unclear. METHODS: In 71 consecutive patients with acute ischemic stroke, aged 25-94 years, admitted to our unit, we investigated the relationships between the blood pressure variation during the first 24 h and mortality at 3 months (study endpoint). Neurological status was assessed with the National Institutes of Health Stroke Scale. Blood pressure was measured with bedside noninvasive blood pressure monitoring every 15 min. The mean of four measurements at the emergency department and the mean of 12 measures (during a 3-h interval) at 12 and at 24 h after stroke onset were considered for analysis. Antihypertensive treatment was given in accordance with the Recommendations for Stroke Management of European Stroke Initiative. RESULTS: In the whole series, 21% were atherothrombotic, 32% cardioembolic, 34% lacunar, and 13% of unknown or other cause. Blood pressure was 160+ or -3/86+ or -2 mmHg at the emergency department, 148+ or -3/82+ or -2 mmHg at 12 h, and 147+ or -3/81+ or -2 mmHg at 24 h (P<0.05). Four patients (11%) of those in whom mean blood pressure decreased >5 mmHg, and 12 (33%) of the others, in whom mean blood pressure decreased < or =5 mmHg or did not decrease, reached the endpoint (P<0.05). According to the multivariate Cox model, NIHSS score at the emergency department (95% confidence interval: 1.025-1.238, P=0.013) and age (95% confidence interval: 1.007-1.259, P=0.038) were predictors of reaching the endpoint, whereas mean blood pressure reduction 24 h after stroke onset had a protective effect (95% confidence interval: 0.845-0.995, P=0.038). Diabetes, mean blood pressure at the emergency department and the need for antihypertensive therapy did not correlate with the outcome. CONCLUSIONS: Noninvasive blood pressure monitoring during the first 24 h of acute ischemic stroke may be useful in the prognostic stratification by showing moderate blood pressure decrease, either spontaneous or drug induced, which is associated with a favorable prognosis at 3 months.     

Aldosterone and refractory hypertension: a prospective cohort study

BACKGROUND: Resistant hypertension is common in clinical practice. The aim of our study was to evaluate inappropriate aldosterone activity in causing resistance to antihypertensive therapy. METHODS: Among the patients consecutively evaluated for the first time between 1995 and 2001, we selected all those (n = 157) with an aldosterone-to-renin ratio (ARR) >or=25 (ng/dL)/(ng/mL/h), and plasma aldosterone >or=12 ng/dL. Eight patients with Conn adenoma were excluded from the study. Fifty-eight were diagnosed as idiopathic aldosteronism (IHA), the other 91 patients, who did not meet the criteria for primary aldosteronism, were operatively classified as aldosterone-associated hypertension (AAH). As a control group, we randomly chose 160 patients with essential hypertension and plasma aldosterone <12 ng/dL (EH). Antihypertensive treatment was given in accordance to World Health Organization Guidelines (1999). The study end point was blood pressure (BP) <140/90 mm Hg. RESULTS: During follow-up (22 +/- 2 months), 24 (41.4%) patients with IHA, 35 (38.5%) with AAH, and 72 (54.0%) with EH reached the end point. According to survival analysis, AAH and IHA patients reached the end point in a smaller fraction and in a longer time compared with EH patients, with no difference between IHA and AAH. At the end of follow-up, IHA and AAH patients had higher diastolic BP than EH patients with no difference between IHA and AAH. CONCLUSIONS: Patients with elevated aldosterone plasma levels develop resistant hypertension, even in the absence of clinically diagnosed primary aldosteronism. Their identification will allow a targeted therapy and a more effective BP reduction.     

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

Background Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disease with a prevalence of 1 in 20?000. Almost all patients with FSHD carry deletions of integral copies of tandem 3.3 kb repeats (D4Z4) located on chromosome 4q35. However, FSHD families have been reported in which individuals carrying a D4Z4-reduced allele remain asymptomatic. Recently, it has been proposed that the D4Z4-reduced allele is pathogenic only in association with the permissive haplotype, 4APAS. Methods and results Through the Italian National Registry for FSHD (INRF), genotype-phenotype correlations were extensively studied in 11 non-consanguineous families in which two D4Z4-reduced alleles segregate. Overall, 68 subjects carrying D4Z4-reduced alleles were examined, including 15 compound heterozygotes. It was found that in four families the only FSHD-affected subject was the compound heterozygote for the D4Z4-reduced allele, and 52.6% of subjects carrying a single D4Z4-reduced 4A161PAS haplotype were non-penetrant carriers; moreover, the population frequency of the 4A161PAS haplotype associated with a D4Z4-reduced allele was found to be as high as 1.2%. Conclusions This study reveals a high frequency of compound heterozygotes in the Italian population and the presence of D4Z4-reduced alleles with the 4A161PAS pathogenic haplotype in the majority of non-penetrant subjects in FSHD families with compound heterozygosity. These data suggest that carriers of FSHD-sized alleles with 4A161PAS haplotype are more common in the general population than expected on the basis of FSHD prevalence. These findings challenge the notion that FSHD is a fully penetrant autosomal dominant disorder uniquely associated with the 4A161PAS haplotype, with relevant repercussions for genetic counselling and prenatal diagnosis.     

Oral nitric‐oxide donor glyceryl‐trinitrate induces sensitization in spinal cord pain processing in migraineurs: A double‐blind,placebo‐controlled,cross‐over study

Nitric‐oxide donor glyceryl‐trinitrate (GTN) modulates cerebral and spinal regions that are involved in migraine and pain processing. We hypothesized that in migraineurs, the susceptibility to develop a migraine attack after GTN administration should parallel with an high sensitivity to GTN‐induced change in the pain processing at spinal level. We used the temporal summation threshold (TST) of the lower limb nociceptive withdrawal reflex (NWR) and the related pain sensation to study in parallel the time‐course of the effect of the GTN administration on the pain processing at spinal level in migraine and healthy subjects. Twenty‐eight (21 F; 7 M; mean age 34.2±8.2) migraine and 15 (11 F; 4 M; mean age 35.9±8.9) healthy subjects were recruited in a double‐blind, placebo‐controlled, cross‐over trial. Neurophysiological examinations were carried out before (baseline) and 30′, 60′, 120′, 180′ and 240′ after GTN (0.9 mg sublingual) or placebo administration during two different sessions. In migraineurs, GTN administration was associated to a significant facilitation in temporal summation of pain (reduced TST and increased painful sensation) 60′, 120′ and 180′ after drug intake when compared to baseline, to placebo condition and to controls after GTN intake. Furthermore, in migraineurs who developed migraine after GTN, a significant facilitation in temporal summation of pain was detected 60′, 120′ and 180′ after drug intake when compared to patients without clinical response. In migraineurs the susceptibility to develop migraine attack after GTN administration seems to be a specific trait of a subgroup of patients linked to a supersensitivity of the pain system to GTN.     

Does intravesical electrostimulation improve neurogenic constipation? A case report

An elderly patient affected by incomplete cauda equina syndrome underwent intravesical electrostimulation (IVES) to improve impaired bladder emptying. One month after IVES treatment, which consisted of 20 daily sessions, cistometrography evidenced a normalization of urinary pattern and a concomitant, but unexpected, improvement of constipation (Wexner score from 22 to 4).This report demonstrates that IVES may be considered another viable and less invasive option for controlling constipation secondary to spinal and peripheral nerve lesions.