Characterization of children with early onset pediatric multiple sclerosis.

Background: Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.

Objective: To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).

Methods: Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.

Axillary Reverse Mapping Using Indocyanine Green in Breast Cancer: Standardization of the Technique.

Purpose: To validate the Axillary Reverse Mapping (ARM) technique with indocyanine green (ICG), focusing on the detection rate and the procedure's feasibility. The predictive factors for metastatic involvement of ARM nodes are also analyzed to define the target population for ARM indication.

Methods: This prospective, observational, non-randomized study of patients with breast cancer included patients with an indication for axillary lymph node dissection (ALND) performed between June 2021 and June 2023.

Applications of basophil activation test in paediatric allergic diseases.

Basophilic granulocytes, containing and releasing histamine after a specific allergy stimulation, are directly involved in IgE-mediated allergic reactions. CD63 is a transmembrane protein of secretory lysosomes of basophils and its upregulation is related with the release of histamine to the extracellular space during IgE-mediated allergic reactions. Basophil activation test (BAT) measures the activation of circulating basophils upon the stimulation of living blood cells with specific allergens.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.

Identification of the Wnt signal peptide that directs secretion on extracellular vesicles.

Wnt proteins are hydrophobic glycoproteins that are nevertheless capable of long-range signaling. We found that Wnt7a is secreted long distance on the surface of extracellular vesicles (EVs) following muscle injury. We defined a signal peptide region in Wnts required for secretion on EVs, termed exosome-binding peptide (EBP).