Author Correction: Rectosigmoidal manifestations of venous malformations: MR imaging findings and interdisciplinary therapeutic modalities.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Rectosigmoidal manifestations of venous malformations: MR imaging findings and interdisciplinary therapeutic modalities.

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.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

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.

Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.

Objective: 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.

Subjects And Methods: Thirty-one patients (mean age, 23.

Ethanolgel sclerotherapy of venous malformations improves health-related quality-of-life in adults and children - results of a prospective study.

Objectives: To assess the treatment-induced changes of health-related quality-of-life (HRQoL) in patients with venous malformations (VM) who underwent ethanol gel sclerotherapy.

Methods: The prospective study in children and adults was approved by the local ethics committee. 31 patients (mean age 23.

Lung disease caused by mutations.

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.

The retrograde transvenous push-through method: a novel treatment of peripheral arteriovenous malformations with dominant venous outflow.

Purpose: To evaluate the efficacy and safety of a novel retrograde transvenous embolization technique of peripheral arteriovenous malformations (AVMs) using Onyx.

Materials And Methods: 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).

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

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 proven SFTPC mutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.

Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children.

Hypersensitivity pneumonitis (HP) also called exogenous allergic alveolitis = extrinsic allergic alveolitis in children is an uncommon condition and may not be recognized and treated appropriately.To assess current means of diagnosis and therapy and compare this to recommendations, we used the Surveillance Unit for Rare Paediatric Disorders (ESPED) to identify incident cases of HP in Germany during 2005/6. In addition, cases of HP reported for reference from all over Germany to our center in the consecutive year were included.