Exploring individual parent-to-parent support interventions for parents caring for children with brain-based developmental disabilities: A scoping review.

Background: Brain-based developmental disabilities (BBDDs) comprise a large and heterogeneous group of disorders including autism, intellectual disability, cerebral palsy or genetic and neurodevelopmental disorders. Parents caring for a child with BBDD face multiple challenges that cause increased stress and high risk of mental health problems. Peer-based support by fellow parents for a various range of patient groups has shown potential to provide emotional, psychological and practical support.

Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.

Objective: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration. This is the first study to define the effects and therapeutic mechanisms of hematopoietic stem cell transplantation on brain tissue of transplanted metachromatic leukodystrophy patients.

Methods: Autopsy brain tissue was obtained from eight (two transplanted and six nontransplanted) metachromatic leukodystrophy patients, and two age-matched controls.

Phenotypic variation between siblings with Metachromatic Leukodystrophy.

Background: Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only partly understood, and the variability of the clinical course between siblings is unclear with some evidence for a discrepant clinical course in juvenile patients. The aim of this study was to systematically investigate the phenotypic variation in MLD siblings in comparison to the variability in a larger MLD cohort and to case reports published in literature.

Intrathecal baclofen in metachromatic leukodystrophy.

Metachromatic leukodystrophy (MLD) is a rare progressive neurological disorder, often accompanied by motor impairments that are challenging to treat. In this case series, we report the course of treatment with intrathecal baclofen (ITB), aimed at improving daily care and comfort in children and young adults with MLD. All patients with MLD in our centre on ITB treatment for a minimum of 6 months were included (n=10; 4 males, 6 females; mean age 10y 8mo [range 6-24y]).

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Objective: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.

Methods: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.

Diffusion tensor imaging in metachromatic leukodystrophy.

Objective: We aimed to gain more insight into the pathomechanisms of metachromatic leukodystrophy (MLD), by comparing magnitude and direction of diffusion between patients and controls at diagnosis and during follow-up.

Methods: Four late-infantile, 16 juvenile and 8 adult onset MLD patients [of which 13 considered eligible for hematopoietic cell transplantation (HCT)] and 47 controls were examined using diffusion tensor imaging. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) were quantified and compared between groups using tract-based spatial statistics (TBSS).

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

Objective: To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT).

Methods: 21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor.

DOMINO, doxycycline 40 mg vs. minocycline 100 mg in the treatment of rosacea: a randomized, single-blinded, noninferiority trial, comparing efficacy and safety.

Background: There is a lack of evidence for minocycline in the treatment of rosacea.

Objectives: To compare the efficacy and safety of doxycycline 40 mg vs. minocycline 100 mg in papulopustular rosacea.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

Objectives: To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD).

Methods: We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound.

Randomized Controlled Trials for the Treatment of Hidradenitis Suppurativa.

Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent, debilitating skin disease. Several treatment modalities are available, but most of them lack high-quality evidence. A systematic search was performed to identify all randomized controlled trials for the treatment of HS in order to review and evaluate the evidence.

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective MRI study investigated the extent of cortical involvement at time of diagnosis, and clinical correlates to both conventional and regional volumetric measures of brain involvement.

Methods: 3D-T1-weighted MRI scans were used to determine cortical thickness and surface-based cerebral cortical gray matter (GM) and cerebral white matter (WM) volume (GMV and WMV), WM lesions, thalamus, and cerebellum.

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.

Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination. The disease is classified in a late-infantile, juvenile and adult onset type based on the age of onset, all characterized by a variety of neurological symptoms, which eventually lead to death if untreated.

Health-related quality of life in patients with cutaneous rosacea: a systematic review.

Health-related quality of life (HRQoL) of rosacea patients is a relevant outcome measure in research and clinical practice. A review of the literature was systematically carried out regarding levels of HRQoL of patients with rosacea, including associations between HRQoL scores, demographic and clinical characteristics. Searches were performed in Cochrane, PubMed, EMBASE, PsycINFO, CINAHL and LILACS.

[A woman with periocular swelling].

We present a 37-year-old woman with an 8-year history of rosacea, who developed persistent swelling of the right lower eyelid, diagnosed as Morbihan's disease. Morbihan's disease is considered a rare complication of rosacea.

The off-label treatment of severe hidradenitis suppurativa with TNF-α inhibitors: a systematic review.

To provide an overview of the current evidence regarding off-label treatment of hidradenitis suppurativa (HS) with TNF-α inhibitors, a systematic search was performed in MEDLINE, EMBASE and CENTRAL. Any type of original article concerning HS patients treated with infliximab, etanercept and/or adalimumab was included. No language restriction was applied.

Mild to moderate hidradenitis suppurativa treated with local excision and primary closure.

Background: Hidradenitis suppurativa (HS) is a chronic skin disease with a great impact on quality of life. Treatment with antibiotics or anti-inflammatory drugs, such as prednisone or TNF-alpha-inhibitors usually achieves only temporary improvement. Surgical intervention is considered as the only curative treatment for recurrent lesions.

Comparing treatment outcome of infliximab and adalimumab in patients with severe hidradenitis suppurativa.

Background: Hidradenitis suppurativa (HS) is a chronic relapsing skin disease. Recent studies have shown promising results of anti-tumor necrosis factor-alpha treatment.

Objective: To compare the efficacy and safety of infliximab and adalimumab in the treatment of HS.

New-onset polyarthritis during successful treatment of hidradenitis suppurativa with infliximab.

Background: Hidradenitis suppurativa (HS) can be associated with several forms of arthritis, usually considered as reactive arthritis. A new observation is that some patients with HS develop arthritis after treatment with infliximab (antitumour necrosis factor-α).

Objectives: A retrospective study was performed to establish the frequency and clinical presentation of new-onset arthritis during infliximab treatment.