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.     

Association between the HLA-A2 allele and Alzheimer disease

In the elderly, the most common cause of dementia is Alzheimer disease (AD), which is responsible for the age-related progressive neurodegenerative inflammatory condition mediated by the disease. It has been seen that several genetic and environmental factors are involved in AD onset. Epidemiologic data suggest that some genetic determinants of AD might reside in those polymorphisms that regulate immune inflammatory responses, such as the major histocompatibility complex (MHC). Therefore, several MHC polymorphisms have been in the spotlight of a large number of AD association studies. A possible association of HLA-A2 allele with increased susceptibility to AD has been the subject of debate for more than 20 years, even if the results of these studies, in the various populations, are discordant. Thus, to gain insight in this matter, the authors have studied the HLA-A2 allele for a possible association with sporadic AD in a homogeneous population of Italian patients. For this reason, the distribution of HLA-A2 allele in patients with sporadic AD and controls was analyzed by PCR-SSP assay. The results demonstrated a significant difference in the frequency of HLA-A2 allele between patients with sporadic AD and controls (46% versus 38%). Thus, these data confirm a positive role of HLA-A2 allele in the risk of developing AD. However, some of the observed discrepancies may result from clinical or genetic heterogeneity of the populations under study or methodologic biases. Besides, whenever external agents such as viruses play a role, these might different in the various populations leading to various associations. However, it has to be taken into account that there are many molecular HLA-A2 subtypes with different frequencies in various populations. Therefore, further studies should include molecular typing of HLA-A2 subtypes.     

VNS in drug resistant epilepsy: preliminary report on a small group of patients

Background

In 1997 Vagus Nerve Stimulation (VNS) received approval from the US Food and Drug Administration (FDA) as an adjunctive therapy in the treatment of medically intractable partial epilepsy in people aged 12 years and older who are ineligible for resective epilepsy surgery. Although the exact mechanisms of action are unknown, the use of VNS with children has increased, including those younger than 12 years of age, or those with generalized epilepsy.

Methods

We describe the outcome for the first group of nine patients, aged 8-28 years, who had pharmaco-resistant epilepsy and were treated with VNS. During the follow up, we gradually and slowly increased the parameters of the stimulation in order to assess the efficacy of VNS even at parameters which would usually be considered "non-therapeutic", along with possible side effects and changes in quality of life.

Results

At the last follow, up 1 patient was "seizures free", 3 were "very good responders", 3 were "good responders" and 2 were "non responders". We obtained an initial seizure reduction with low stimulation parameters, the highest current reached being 2.00 mA. This observation supports the possibility that, for younger patients, lower stimulation intensities than those commonly used in clinical practice for adults can be therapeutic. We also wanted to underline the reduction in seizure frequency (~91,7%) and the reduction in seizure duration (> 50%) in the patients affected by drug-resistant absence epilepsy. Adverse effects were mild, tolerable and, in most of cases, easily resolved by adjusting the stimulation parameters. Hoarseness of voice was the most frequent side effect. The improvements in the quality of life are relevant and seem to be independent of the VNS effect in controlling seizures.

Conclusions

Our small experience seems to confirm the efficacy and safety of VNS in drug resistant partial and generalized epilepsy in developing age groups.

     

Management and treatment of lactose malabsorption

Lactose malabsorption is a very common condition characterized by intestinal lactase deficiency. Primary lactose malabsorption is an inherited deficit present in the majority of the world's population, while secondary hypolactasia can be the consequence of an intestinal disease. The presence of malabsorbed lactose in the colonic lumen causes gastrointestinal symptoms. The condition is known as lactose intolerance. In patients with lactase nonpersistence, treatment should be considered exclusively if intolerance symptoms are present. In the absence of guidelines, the common therapeutic approach tends to exclude milk and dairy products from the diet. However, this strategy may have serious nutritional disadvantages. Several studies have been carried out to find alternative approaches, such as exogenousβ-galactosidase, yogurt and probiotics for their bacterial lactase activity, pharmacological and non pharmacological strategies that can prolong contact time between enzyme and substrate delaying gastrointestinal transit time, and chronic lactose ingestion to enhance colonic adaptation. In this review the usefulness of these approaches is discussed and a therapeutic management with a flow chart is proposed.     

The role of ultrasonography in patients with celiac disease

The aim of the present review was to summarize thecurrent evidence on the role of ultrasonography(US)anddoppler-US in the diagnosis of celiac disease.Several ultrasonographic signs have been reported inthe association with celiac disease in studies using real-time US.Firstly,case control studies identified some ofthese US signs and then in a prospective series someof these parameters,due to their high specificity,havebeen shown to be of value in confirming CD diagnosis,whereas others,due to their high sensitivity,have beendemonstrated to be useful in excluding the presence ofthe disease.The pattern of splanchnic circulation in CD haveextensively been investigated by several studies allof which reported similar results and identified a hy-perdynamic mesenteric circulation that reverts to no-rmal values after successful a gluten-free regimen.The last part of this review will deal with the possiblerole of US in identyfing the most severe and commonintestinal complication of CD,i.e.the enteropathy-associated T cell non-Hodgkin lymphoma.     

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.     

Successful medical treatment of EBV smooth muscle tumor in a renal transplant recipient

Belingheri M, Comoli P, Locatelli F, Baldanti F, Martina V, Giani M, Ferraresso M, Cro L, Edefonti A, Ghio L. Successful medical treatment of EBV smooth muscle tumor in a renal transplant recipient.
Pediatr Transplantation 2010: 14:E101–E104. © 2009 John Wiley & Sons A/S. Abstract: EBV is associated with various malignancies in patients with acquired or induced immune impairment. EBV‐SMT is very uncommon in immunocompromised patients, and a kidney localization has been described only anecdotally. We report the case of a 17‐yr‐old kidney transplant recipient diagnosed as having an EBV‐SMT inside the renal graft, which was successfully managed by minimizing isolated immunosuppression.