Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2.

Capillary malformation-arteriovenous malformation is a rare autosomal dominant disorder associated with EPHB4 loss-of-function mutations. We report the unique presentation of a 6-year-old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface, right upper chest, and right arm associated with overgrowth. Targeted next-generation sequencing on a tissue sample revealed a novel heterozygotic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.715T>A, p.[Cys239Ser]). This case highlights a distinct presentation of CM-AVM type 2 and showcases a new variant in EPHB4 not previously reported in the literature.

Allergy to lipid transfer proteins (LTP) in a pediatric population.

Summary: Background. Lipid transfer proteins (LTP) are considered important plant food allergens in the Mediterranean area, but little is known about LTP allergy in pediatric age. Our aim was to characterize LTP allergy in children.Methods. We reviewed the clinical data from all children evaluated in our department with LTP allergy. From the 76 patients with LTP allergy, 26c hildren were included, 50% female, median age 10 years (1-17). Symptoms included urticaria in 58% (n = 15), anaphylaxis in 46% (n = 12) and OAS in 42% (n = 11). Results. Multiple reactions with different foods occurredin 69%. Cofactors were reported in 27% (n = 7). All patients had positive SPT to peach LTP extract and sIgE Pru p 3. No association between the occurrence of severe reactions and sIgE to Pru p 3 (p = 0.462), sIgE to Cor a 8(p = 0.896), SPT to peach LTP extract (p = 0.846) or the number of positive SPT to fruits/tree nuts (p = 0.972; p = 0.676) was found. Ninety-two percent of the patients tolerated fruits from Rosacea family without peel. Twelve percent reported reactions to new LTP containing foods during follow-up. LTP allergy can occur since early childhood. Conclusions. Since anaphylaxisis common and cofactors act as severity enhancers, it is fundamental to recognizeLTP allergy in children. Currently available diagnostic tests (SPT and sIgE) cannot accurately predict food tolerance or anticipate reaction severity.

Acute urticaria in children: from pediatric Emergency Department to allergology consultation at a Central Hospital.

Summary: Background. Acute urticaria is a common condition in the pediatric emergency department (ED) and no data is available in Portugal. Objective. We aimed to characterize the prevalence, etiology and management of acute urticaria in children presenting at an ED of a portuguese central hospital and report the follow-up investigation when drug or food allergy was suspected.Methods. Retrospective study of clinical records from children admitted to the ED with acute urticaria during one year period. Results. 250 children were included, mean age of 7.4 ± 4.9 years (0-17 years). The most frequently suspected etiological factors were infections (22%), foods (12%), insect bites (9%) and drugs (8%), of which, upper respiratory tract infections, seafood and ß-lactam antibiotics were the most frequent. In 44% of cases, the etiology of urticaria was not determined. After ED discharge, of the 50 patients with suggestive drug or food allergy, only 48% were sent to allergological workup and the allergy confirmed in 6 of them (2.4% of the 250 children). Conclusions. These data suggest that allergy is not the main trigger of acute urticaria in ED children, but when suspected, reference to an allergy department to complete allergological workup was insufficient.

Efficacy and tolerability of the American Heartworm Society therapeutic protocol in dogs affected by heartworm disease without caval syndrome.

OBJECTIVES: The American Heartworm Society medical protocol represents the current standard of therapy for canine heartworm disease without caval syndrome. However, data on the tolerability of this protocol are limited. This study aimed to describe efficacy and prevalence of possible treatment-related side effects in dogs with heartworm disease treated using the American Heartworm Society protocol. MATERIALS AND METHODS: For this retrospective multi-centre cohort study, dogs diagnosed with classes 1 to 3 heartworm disease that completed the American Heartworm Society medical protocol were searched in four medical databases. Demographic, clinical, diagnostic, therapeutic and outcome data, including the number and type of possible treatment-related side effects, were retrieved. RESULTS: Thirty-five dogs were included. The median age and bodyweight were 6 years (1 to 13 years) and 17.3 kg (4.9 to 50 kg), respectively. Heartworm disease was classified as classes 1, 2 and 3 in 20 of 35, 11 of 35 and four of 35 dogs, respectively. In addition to the therapeutic recommendations of the American Heartworm Society, eight of 35 dogs underwent sedation to favour melarsomine administration, and 30 of 35 received ice at the injection site. After adulticide therapy, all dogs were hospitalised with cage rest [median time 12 hours (6 to 48 hours)]. All dogs survived the treatment. All dogs with long-term follow-up (32/35) became negative. Furthermore, treatment-related side effects were rare, mild and rapidly recovered without the need for supporting therapies; these included depression/lethargy (4/35 dogs), cough (2/35 dogs) and lameness, pain and gastrointestinal signs (1/35 dog each). CLINICAL SIGNIFICANCE: The American Heartworm Society medical protocol is efficient and safe in dogs with classes 1 to 3 heartworm disease.

Transient myocardial thickening: a retrospective analysis on etiological, clinical, laboratory, therapeutic, and outcome findings in 27 cats.

INTRODUCTION/OBJECTIVE: Transient myocardial thickening (TMT) in cats is a poorly characterized clinical entity. Therefore, this study aimed to provide descriptions of additional cats diagnosed with this clinical phenomenon. ANIMALS, MATERIALS, AND METHODS: For this multicenter observational retrospective study, cats diagnosed with TMT were searched in three medical databases. TMT was defined for cats with at least two echocardiograms showing an increased end-diastolic left ventricular wall thickness (LVWTd; i.e. ≥6 mm) at presentation and subsequent echocardiographic normalization (i.e. LVWTd <5.5 mm). Signalment, history, clinical, laboratory, therapeutic, and outcome data were retrieved. RESULTS: Twenty seven cats were included. The median age was 3 years. In 9/27 cats, an antecedent event was documented. At admission, 27/27 cats had evidence of myocardial injury (median value of cardiac troponin I 5.5 ng/mL), 25/27 cats had congestive heart failure, 13/27 cats had hypothermia, 8/27 cats had systemic hypotension, 7/27 cats had bradycardia, and 7/27 cats had electrocardiographic evidence of an arrhythmia. The median LVWTd was 6.4 mm. A potential cause of myocardial injury was identified in 14/27 cats. The median time from diagnosis to a significant reduction in LVWTd was 43 days. DISCUSSION: TMT can be diagnosed in a wide range of cats, including young subjects. An antecedent predisposing event and/or a possible causative trigger can be identified in some. The reduction in LVWTd that defines this phenomenon usually occurs over a variable time frame. CONCLUSIONS: This study represents the largest investigation of TMT in cats and provides additional information on this uncommon clinical entity.

Effects of a community-based pulmonary rehabilitation programme during acute exacerbations of chronic obstructive pulmonary disease - A quasi-experimental pilot study.

BACKGROUND: Pulmonary rehabilitation (PR) is a cornerstone intervention for the management of patients with stable chronic obstructive pulmonary disease (COPD). However, its role during acute exacerbations (AECOPD) is controversial since most studies have been conducted in hospitalised patients, when more than 80% of AECOPD are managed on an outpatient basis. This quasi-experimental pilot study assessed the effects of a community-based PR programme during mild-to-moderate AECOPD. METHODS: Outpatients were recruited from hospitals and allocated to experimental (EG) or control (CG) groups. EG received standard medication plus 3-weeks of PR. The CG received standard medication. Dyspnoea (mMRC), quadriceps muscle strength (QMS), functionality (5-repetition sit-to-stand test) and impact of the disease (COPD assessment test (CAT)) were assessed within 48h of the AECOPD onset and after PR. Symptoms of dyspnoea and fatigue (mBorg), heart and respiratory (RR) rates and peripheral oxygen saturation (SpO2) were assessed at rest and monitored in all PR sessions. Need for hospitalisation was monitored during the 3-weeks. RESULTS: Twelve patients (69±7 years, FEV1 52±27 pp) in the EG and eleven in the CG (66±9 years, FEV1 55±22 pp) were enrolled. The EG presented significant improvements on QMS (Pre 21.0 vs. Post 25.0, p=0.012), CAT (Pre 23.0 vs. Post 14.5, p=0.008), symptoms of dyspnoea at rest (Pre 3.0 vs. Post 1.0, p=0.008), SpO2 (Pre 94.0 vs. Post 96.0, p=0.031) and RR (Pre 24.0 vs. Post 20.5, p=0.004). No significant improvements were found in the CG. CONCLUSION: Adding PR to the management of mild-to-moderate AECOPD seems to result in improvements on parameters usually associated with an increased risk of re-exacerbation and poor prognosis. Randomised studies with larger samples are needed to confirm these results.

Clinical, serological and molecular investigations of EHV-1 and EHV-4 in 15 unweaned thoroughbred foals.

Fifteen unweaned thoroughbred foals, born on a stud farm to vaccinated mares, were clinically monitored during their first six months of life and repeatedly tested for equine herpesvirus type 1 (EHV-1) and equine herpesvirus type 4 (EHV-4). Nasopharyngeal swabs and blood samples were collected and screened respectively by PCR and seroneutralisation to detect the presence of the virus, explore its role as a possible cause of respiratory disease, and to assess the efficiency of the pcr for the diagnosis of this disease. The foals were divided into three groups on the basis of their clinical signs and whether they had seroconverted to EHV-1 and/or EHV-4: first, foals with no clinical signs of disease that had not seroconverted; secondly, foals with clinical signs that had seroconverted, and thirdly, foals with clinical signs that had not seroconverted. The results indicated that the viruses circulated on the stud farm despite stringent vaccination regimens against them, and confirmed their association with respiratory disease. The absence of significantly different pcr results among the three groups of foals showed that the pcr was effective in confirming the circulation of the viruses on the premises without being particularly helpful as a diagnostic tool.

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.

Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.

Seroepidemiological survey of Rhodoccocus equi infection in asymptomatic horses from Bursa, Izmir and Istanbul provinces, Turkey.

In order to assess the Rhodococcus equi infection in three provinces of Turkey (Bursa, Izmir and Istanbul), 696 sera from healthy foals and adult horses were tested by indirect ELISA using a R. equi reference strain (ATCC 6939) as antigen. 103 sera (14.80%) with titres >0.646 resulted positive. Seroprevalence was significantly higher (P=0.0053) in male than in female horses of Istanbul province, although higher antibody titres (mean value) were observed in the female group of Bursa and Izmir provinces with differences estimated between provinces (P=0.0002). Seroprevalence was correlated with age: foals aged less than 1 year (P<10(-4)) and horses from 5 to 10 years old (P=0.018) resulted more infected in Bursa and Izmir provinces. Our findings indicate that R. equi infection actually occurs in all investigated provinces, suggesting the importance of serological survey to diagnose the infection and to prevent the zoonotic risk.

Cytomegalic hepatitis in a patient receiving omalizumab.

Cytomegalovirus is a double stranded DNA virus that can be present in nearly all organs and body fluids. The primary infection is usually asymptomatic in the immunocompetent host and it is common among adolescents and young adults. The symptomatic form appears, in the majority of cases, as a mononucleosis syndrome with full recovery without specific treatment. We report a case of a 25 years old woman who presented with hepatitis due to CMV infection and history of omalizumab administration one month earlier. This recombinant monoclonal antibody is used to control refractory asthma and chronic spontaneous urticarial as it inhibits human IgE. Despite that, the long course of the disease lead us to initiate treatment with valganciclovir. The improvement after that was rapid and complete.

Physician knowledge, attitudes, and behavior related to reporting adverse drug events.

Voluntary physician reporting of adverse drug events (ADEs) in their patients remains the single most important source of information on serious and rare ADEs. Yet, substantial underreporting exists and the factors producing it are unclear. We surveyed 3000 randomly chosen physicians by mailed questionnaire to determine their knowledge about the reporting system, attitudes toward reporting, and their past behavior in reporting the ADEs they had detected. Responses numbered 1121. Only 57% were aware of the Food and Drug Administration's reporting system. While 418 physicians had detected an ADE in their practices during the previous year, only 21 physicians reported these events directly to the Food and Drug Administration. The physicians appear to appreciate the safety issues involved in prescription drug use and view reporting as a professional obligation; however, the current reporting system is considered inconvenient.

[Intra-articular treatment with Hylan G-F 20 under ultrasound guidance in hip osteoarthritis. Clinical results after 12 months follow-up]. / Terapia intra-articolare con acido ialuronico (Hylan G-F 20) sotto guida ecografica nell'artrosi dell'anca. Risultati clinici a 12 mesi.

Hip is a site very commonly affected by osteoarthritis (OA), yet few data exist in literature regarding intra-articular use of hyaluronic acid in this pathology. We evaluated the efficacy of Hylan G-F 20 hip viscosupplementation performed under ultrasound guidance. We enrolled 26 patients affected by symptomatic hip OA and treated them with a single intraarticular injection of Hylan G-F 20, which could be repeated every two months. The injection was performed under ultrasound guidance with an antero-superior approach. Treatment efficacy was assessed through Lequesne index, visual analogue scale (VAS) pain quantification, and NSAID intake at the timepoint zero (baseline), and after 2, 6 and 12 months. We observed a statistically significant reduction of all considered parameters at the timepoints 2 and 6 months, when compared to baseline. At 12 months the changes were still statistically significant for all parameters for about 50% of the patients. No side effect was observed, nor systemic complication. Viscosupplementation is a promising approach for hip OA, although further and wider studies are wanted to determine how long the beneficial effect lasts, and what is the optimal number of injections to administer.

The management of failed dual or triple therapy for Helicobacter pylori eradication.

BACKGROUND: After each treatment for Helicobacter pylori infection there is an eradication failure rate ranging from 5 to 50%. Thus, the best therapy schedule and treatment regimen sequence have still to be identified. METHODS: Patients with H. pylori infection were randomized to receive either a 1-week triple therapy of omeprazole 20 mg b.d., clarithromycin 250 mg b.d. and tetracycline 500 mg b.d. (OCT; 78 patients) or a 2-week dual therapy of omeprazole 20 mg b.d. and amoxycillin 1 g b.d. (OA; 75 patients). H. pylori infection at entry and eradication 4-6 weeks after therapy had ended were assessed by rapid urease test and histology on biopsies from the antrum and the corpus. When eradication did not occur with either the OCT or OA regimens, patients were switched over to the OA or OCT therapy, respectively. Eradication in these patients was assessed 4-6 weeks after conclusion of treatment by a further endoscopy. RESULTS: H. pylori eradication was achieved in 67.9% (95% CI = 57.6-78.3%) of patients treated with the OCT regimen and in 75.7% (95% CI = 65.9-85.5%) of patients treated with the OA therapy (chi 2 = 1.11; P = 0.29). Moreover, H. pylori eradication was achieved in 39.1% (95% CI = 19.2-59.1%) of patients re-treated with the OA regimen and in 88.9% (95% CI = 74.4-100%) of patients re-treated with the OCT therapy (chi 2 = 8.52; P = 0.003). Thus, the overall success rate 'per protocol' analysis in our study was 81.6% (95% CI = 72.9-90.3%) for the triple and dual therapy sequence and 97.3% (95% CI = 93.6-100%) for dual followed by triple therapy (chi 2 = 8.14; P = 0.004). CONCLUSIONS: Our data found that H. pylori eradication with OA therapy after OCT therapy failure was poor, while that obtained with OCT after OA therapy was good.

Health promotion: physicians' beliefs, attitudes, and practices.

There is a paucity of research describing the health-promotion beliefs, attitudes, and practices of physicians. Self-reported data from a survey of 1,040 primary care physicians showed that a majority of physicians (97 percent) believed they should modify patients' behaviors to minimize risk factors and rated a variety of health behaviors as important in promoting health. While most physicians gathered information about risk factors and believed they were prepared to counsel patients, only a small percentage (3-18 percent) reported being very successful in helping patients achieve behavioral change. However, given appropriate support, physicians reported that they could be up to six times more successful in influencing behavioral change. This study indicated that physicians have strong beliefs and interests in health promotion, are interested in continuing education about health promotion topics, and desire a variety of new skills to help patients modify their health behaviors.

In vivo binding of [11C]SKF 75670 and [11C]SKF 82957 in rat brain: two dopamine D-1 receptor agonist ligands.

The high affinity benzazepine D1 agonists SKF 75670 and SKF 82957 labeled with C-11 were evaluated in vivo in rats as potential radioligands for imaging dopamine D1 receptors with positron emission tomography (PET). Their in vivo pharmacological profile revealed selective binding for both tracers in rat brain regions rich in D1 receptors such as the caudate-putamen. The more lipophilic [11C]SKF 82957 (6-chloro-[11C]SKF 75670) showed a higher brain uptake (more than 2-fold up to 30 min), higher specific uptake in the striatum and higher signal-to-noise ratio (striatum-to-cerebellum = 3.2 +/- 0.4 for [11C]SKF 75670 and 9.7 +/- 2.5 for [11C]SKF 82957 at 60 min post-injection) as compared to [11C]SKF 75670. Both radiotracers exhibited high specificity and selectivity for D1 receptors, since only D1 competitors but not the D2 antagonist sulpiride or the 5-HT2 antagonist ritanserin reduced significantly their binding the striatum with [11C]SKF 75670 or the striatum and olfactory tubercles with [11C]SKF 82957. Previous reports have shown that only D1 agonists can recognize the functional high-affinity state from the low-affinity state of D1 receptors. [11C]SKF 75670 and especially [11C]SKF 82957 are D1 agonist radioligands that can potentially be used to study in vivo the functional high-affinity state of D1 receptors using PET.

A serological survey of Rhodococcus equi infection in foals in central Italy: comparison of two antigens using an ELISA test.

A serological survey of Rhodococcus equi infection was carried out on 602 blood samples collected from foals in central Italy. The assay was performed with an ELISA test using two different antigens prepared with reference strains of R. equi, ATCC 33071 and ATCC 6939. A positive reaction was obtained on 81 serum samples (13.45%) (OD > or = 0.3) using antigen ATCC 33071, and on 73 serum samples (12.12%) using antigen ATCC 6939. Although the frequency of the disease was not high, the serological positivity was about 13%. There was no statistically significant difference between males and females. The ELISA test using either Antigen 33071 or Antigen 6939 is a rapid and reliable tool for detecting antibodies against R. equi in foals.

Staphylococcus aureus: study of genomic similarity of strains isolated in veterinary pathology using amplified fragment length polymorphism (AFLP).

Staphylococcus aureus is a widespread pathogen causing infections in different animal species. The extensive use of antibiotics, particularly methicillin, causes the rise of antibiotic-resistant strains (MRSA). In order to verify the epidemiology and genetic relatedness among MRSA and sensible strains (MSSA), an accurate fingerprinting technique, the amplified fragment length polymorphism (AFLP), was carried out. The isolates were cultured, subdivided on MRSA and MSSA and submitted for the genomic DNA extraction that was utilized for AFLP. The data were analysed for genetic similarity using the Dice coefficient. The results of genomic analysis among MRSA and MSSA and within them revealed that the major component of variation was due to variation within strains (82.12%), while variance among strains was lower (17.88%). The low level of genomic similarity found among S. aureus strains implies high level of genetic diversity. Different similarity was found as well in all strains independently of the source.

Vaccination of pregnant cows with K99 antigen of enterotoxigenic Escherichia coli and protection by colostrum in newborn calves.

The immune response to the K99 was tested in 45 pregnant cows, subcutaneously vaccinated, for protecting the newborn calves. Serological tests were performed in the blood sera of all animals and in the milk and colostrum sera; hemogram, inhibition of the adhesion to the brush border and histological tests were performed. The calves from vaccinated cows survived the experimental infection after the suction of colostrum in spite of the fact that the calves from control dams died with diarrhea.