Search

AIM Comparison of different ultrasound elastography techniques for detection of changes after sclerotherapy within venous malformations. MATERIAL AND METHODS In patients with venous malformations sonography was executed at exactly the same position prior to and after ethanol-gel sclerotherapy. Both examinations included B-Mode, vascular sonography with Color-Coded Duplex Sonography, and additional sonography with different elastography techniques (strain, qualitative and quantitative Acoustic Radiation Force Impulse (ARFI) elastography) with a linear transducer (6-9 MHz). Qualitative elastograms were read in consensus and scored. Differences of elasticity scores were statistically analyzed, p-values

The aim of this study was to identify the frequency of rectosigmoidal involvement in patients with venous malformations (VM) of the lower extremities and to demonstrate multidisciplinary therapeutic options. The medical records and magnetic resonance images (MRI) of patients with VM of the lower extremities, over a six-year period, were reviewed retrospectively in order to determine the occurrence of rectosigmoidal involvement. Vascular interventions, surgical treatments, percutaneous and hybrid (endoscopy-guided angiography) sclerotherapy and procedural complications (according to Clavien-Dindo classification) were also noted. Of the 378 patients with vascular malformation of the lower limbs, 19 patients (5%) had documented venous rectosigmoidal malformation. All of these 19 patients reported episodes of rectal bleeding, while seven patients (36.8%) also had anemia. All patients underwent endoscopy. By endoscopy, seven patients (36.8%) showed discreet changes, and 12 patients (63.2%) showed pronounced signs of submucosal VM with active (47.3%) or previous (15.7%) bleeding. Treatment was performed in all patients with pronounced findings. Six patients underwent endoscopy-guided hybrid sclerotherapy, one patient underwent endoscopic tissue removal, one patient received percutaneous sclerotherapy and one patient received a combination of transvenous embolization and hybrid sclerotherapy. Three patients required open surgery. No complications occurred after conservative treatments; however, one complication was reported after open surgery. None of the treated patients reported further bleeding and anemia at the end of the follow-up period. In this cohort, rectosigmoidal VM occurred in 5% of patients presenting with a high incidence of rectal bleeding. Percutaneous or endoscopy-guided hybrid sclerotherapy appeared to be a safe and effective alternative to surgery.

Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. Methods We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. Results Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. Conclusions Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was

To assess the treatment-induced changes of health-related quality-of-life (HRQoL) in patients with venous malformations (VM) who underwent ethanol gel sclerotherapy. The prospective study in children and adults was approved by the local ethics committee. 31 patients (mean age 23.42 years, range 6.6 – 46.5; 26 female, 5 male) with VM were included. Patients’ self-assessed HRQoL was measured before and after treatment using psychometrically validated questionnaires for adults and children. Differences were analysed with a paired t test. 58 sclerotherapy sessions were performed. The Physical Component Summary (PCS) at baseline was 43.69 and increased significantly (p = 0.01122) to 48.95 after treatment. The bodily pain (BP) scale increased significantly from 37.94 to 48.56 (p = 0.00002), the general health (GH) scale increased significantly from 46.69 to 52.17 (p = 0.00609). Baseline Physical Summary Score (PHS) in children increased significantly after treatment (p

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised.We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a provenSFTPCmutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.17 patients (seven male) were followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominantSFTPCmutations. Three mutations (p.L101P, p.E191 K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94–197) presented earlier. At follow-up, one patient was healthy (2 years), six patients were “sick-better” (2.8 years, range 0.8–19), seven patients were “sick-same” (6.5 years, 1.3–15.8) and three patients were “sick-worse” (0.3 years, 0.3–16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype.Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.

Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS). In the past few years, the phenotypic spectrum has broadened, mainly owing to the availability and application of high-throughput genetic testing methods. We identified nine patients (three sib pairs, three singleton cases) with isolated, non-syndromic hereditary motor and sensory neuropathy (HMSN) who carried pathogenic SACS mutations, either in the homozygous or compound heterozygous state. None of the patients displayed spasticity or pyramidal signs. Ataxia, which was noted in only three patients, was consistent with a sensory ataxia. Nerve conduction and nerve biopsy studies showed mixed demyelinating and axonal neuropathy. Brain MRI scans were either normal or revealed isolated upper vermis atrophy of the cerebellum. Our findings confirm the broad clinical spectrum associated with SACS mutations, including pure polyneuropathy without characteristic clinical and brain imaging manifestations of ARSACS.

In the treatment of venous malformations, ethanol may be administered in a gelified form to increase local effects and reduce systemic ones. The purpose of this prospective study was to evaluate the efficacy and safety of a commercially available viscous ethanol gel in the treatment of venous malformations.Thirty-one patients (mean age, 23.4 years; age range, 6.6-46.5 years) with venous malformations were prospectively scheduled for two ethanol-gel sclerotherapy sessions. Venous malformations were located at the lower extremity (n = 18), the upper extremity (n = 9), and the face (n = 4). Questionnaires to assess pain, clinical examinations, professional photographs, and contrast-enhanced MRI of the venous malformations were performed before and after therapy to measure therapy-induced changes. Two experienced radiologists blinded to the examination date and clinical status compared photographs and MR images before and after treatment.A mean of 4.2 mL of ethanol gel were administered per session. The technical success rate was 100%. Clinical success, defined as improvement or resolution of symptoms, was noted in 81% of patients. Mean pain score decreased, and the difference was statistically significant (3.9 vs 3.1, p = 0.005). In 54 treatment sessions where follow-up was available, four minor complications occurred. Comparison of photographs and MR images before and after treatment showed improvement in 35% and 93% of patients, respectively.Ethanol gel is an effective and safe sclerosing agent in the treatment of venous malformations.

Purpose: Regarding genital lesions, the incidence of male external genitalia vascular anomalies is circa 3%, thereof one-tenth tumors and nine-tenth malformations according to the International Society for the Study of Vascular Anomalies classification. Image-guided percutaneous sclerotherapy in male external genitalia vascular malformations has rarely been described. Therefore, a retrospective analysis of sclerotherapy in a series of eight patients was conducted. Materials and Methods: The study was IRB approved. Two radiologists reviewed angiographic reports and analyzed interventionally treated male patients with external genitalia vascular malformations between February 2, 2014, and November 11, 2017, at an interdisciplinary tertiary care Vascular Anomalies Center. Inclusion criteria were a slow-flow malformation of the male external genitalia and no interventional treatment before. Operations longer than 1-year past were no exclusion criteria. Patients suffered from lymphatic and/or venous malformations and received percutaneous sclerotherapy. Malformations were treated with polidocanol, ethanol in gel form or OK-432. Patients answered a questionnaire regarding symptoms with repeat after follow-up. The initial state and post-treatment results were compared. Magnetic resonance imaging pre- and post-intervention was assessed. Complications were reported standardized. Results: Eight patients with a mean age of 21.6 years suffered from genital swelling, bleeding, thrombophlebitis, lymphorrhea, skin changes, pain, and functional genitourinary symptoms and were treated with sclerotherapy. All patients reported clinical improvement of symptoms during the average follow-up period of 30 months. No complications ensued. Conclusion: Sclerotherapy seems to be a safe and effective treatment of slow-flow malformations of the male external genitalia. Due to the low incidence of the disease, multicenter studies are necessary to assess a larger number of cases.

AIM Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. MATERIAL AND METHODS 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). RESULTS No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). CONCLUSION Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015.Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects.Overall long-term (5 years) survival of subjects with two disease-causing ABCA3 mutations was20%. Response to therapies needs to be ascertained in randomised controlled trials.

Bei Kindern gehoren akute Bauchschmerzen und Erbrechen zu den haufigsten Grunden, warum ein Arzt konsultiert wird. Wahrend es sich in den meisten Fallen um harmlosere, in der Regel selbstlimitierende Erkrankungen handelt, bedurfen einige Falle einer raschen Diagnose und intensivierten Therapie bis hin zur chirurgischen Intervention. Wie Sie gefahrdete Kinder identifizieren, lesen Sie im nachfolgenden Beitrag.

To evaluate the efficacy and safety of a novel retrograde transvenous embolization technique of peripheral arteriovenous malformations (AVMs) using Onyx. We conducted a retrospective analysis of all patients who underwent transvenous retrograde Onyx embolization of peripheral AVMs with dominant venous outflow over a 29-month period. The embolization is aimed at retrograde filling of the nidus after building a solid plug in the dominant venous outflow (push-through). Classification, clinical signs, technical aspects, clinical and technical success rates, and complications were recorded. Short-term outcome was assessed. 11 Symptomatic patients (8 female; mean age 31.4 years) were treated at our Vascular Anomalies Center with this method between January 2012 and May 2014. The AVMs were located on the upper extremity (n = 3), pelvis (n = 2), buttock (n = 2), and lower extremity (n = 4). Retrograde embolization was successfully carried out after preparatory transarterial-flow reduction in eight cases (73 %) and venous-flow reduction with Amplatzer Vascular Plugs in four cases (36 %). Complete devascularization (n = 10; 91 %) or 95 % devascularization (n = 1; 9 %) led to complete resolution (n = 8; 73 %) or improvement of clinical symptoms (n = 3; 27 %). One minor complication occurred (pain and swelling). During a mean follow-up time of 8 months, one clinically asymptomatic recurrence of AVM was detected. Initial results suggest that retrograde transvenous Onyx embolization of peripheral AVMs with dominant venous outflow is a safe and effective novel technique with a low complication rate.