Transcriptome alterations in peripheral blood B cells of patients with multiple sclerosis receiving immune reconstitution therapy.

Background: Multiple sclerosis (MS) is a chronic, inflammatory and neurodegenerative disease that leads to irreversible damage to the brain and spinal cord. The goal of so-called "immune reconstitution therapies" (IRTs) is to achieve long-term disease remission by eliminating a pathogenic immune repertoire through intense short-term immune cell depletion. B cells are major targets for effective immunotherapy in MS.

Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing.

Background: Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system to which a genetic predisposition contributes. Over 200 genetic regions have been associated with increased disease risk, but the disease-causing variants and their functional impact at the molecular level are mostly poorly defined. We hypothesized that single-nucleotide polymorphisms (SNPs) have an impact on pre-mRNA splicing in MS.

Implication of genetic variants in primary microRNA processing sites in the risk of multiple sclerosis.

Background: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system with a well-established genetic contribution to susceptibility. Over 200 genetic regions have been linked to the inherited risk of developing MS, but the disease-causing variants and their functional effects at the molecular level are still largely unresolved. We hypothesised that MS-associated single-nucleotide polymorphisms (SNPs) affect the recognition and enzymatic cleavage of primary microRNAs (pri-miRNAs).

Vaccination in Multiple Sclerosis: Friend or Foe?

Multiple sclerosis (MS) is a debilitating disease of the central nervous systems (CNS). Disease-modifying treatments (including immunosuppressive treatments) have shown positive effects on the disease course, but are associated with systemic consequences on the immune system and may increase the risk of infections and alter vaccine efficiency. Therefore, vaccination of MS patients is of major interest.

Aberrant expression of alternative splicing variants in multiple sclerosis - A systematic review.

Objective: Alternative splicing is an important form of RNA processing that affects nearly all human genes. The differential expression of specific transcript and protein isoforms holds the potential of novel biomarkers for complex diseases. In this systematic review, we compiled the existing literature on aberrant alternative splicing events in multiple sclerosis (MS).

Dysregulation of Inflammasome Priming and Activation by MicroRNAs in Human Immune-Mediated Diseases.

Inflammasomes are protein complexes that respond to a wide range of pathogens and cellular damage signals. Their activation prompts the caspase-1-mediated cleavage of the proinflammatory cytokines IL-1β and IL-18. Inflammasome dysregulation has been demonstrated to play a role in a range of diseases involving the adaptive immune system like multiple sclerosis, rheumatic diseases, and type 1 diabetes.

A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene.

Genome-wide association studies have identified more than 200 genetic variants to be associated with an increased risk of developing multiple sclerosis (MS). Still, little is known about the causal molecular mechanisms that underlie the genetic contribution to disease susceptibility. In this study, we investigated the role of the single-nucleotide polymorphism (SNP) rs1414273, which is located within the microRNA-548ac stem-loop sequence in the first intron of the CD58 gene.

Transcriptome profiling of peripheral blood immune cell populations in multiple sclerosis patients before and during treatment with a sphingosine-1-phosphate receptor modulator.

Aims: Fingolimod is a sphingosine-1-phosphate (S1P) receptor modulator approved for the treatment of the relapsing form of multiple sclerosis (MS). It prevents the egress of lymphocyte subpopulations from lymphoid tissues into the circulation. Here, we explored the broad effects of fingolimod on gene expression in different immune cell subsets.

Extra-appendiceal neuroendocrine neoplasms in children - data from the GPOH-MET 97 Study.

Neuroendocrine neoplasms (NEN) in children are rare. In Germany, children with NEN of the gastroenteropancreatic system are prospectively registered since 1997. The objective of this study was to evaluate diagnostics, treatment and outcome in children with extra-appendiceal NEN.

Time to diagnosis of brain tumors in children: a single-centre experience.

Background: The aim of the study was to analyze the pre-diagnostic symptomatic interval (PSI) of children with brain tumors with regard to the parental and doctor's delay and the clinical symptoms.

Methods: A retrospective review of all children with brain tumors diagnosed in a single centre over a period of 11 years was carried out.

Results: Seventy-nine patients (35 boys, 44 girls), with a mean age of 9.

Systemic treatment of adrenocortical carcinoma in children: data from the German GPOH-MET 97 trial.

Background: Adrenocortical cancer (ACC) in childhood is a rare disease with poor prognosis. Complete surgical resection, systemic chemotherapy, and mitotane therapy are important curative treatment options for patients with advanced-stage tumors. Since 1997, pediatric ACC patients in Germany have been treated according to the non-randomized, single arm study GPOH-MET-97.

Neuroendocrine tumors of the appendix in children and adolescents.

Background: Neuroendocrine tumors (NET) of the appendix in children and adolescents are rare and mostly detected postoperatively by a histopathological examination. Since the malignant potential of these tumors remains unclear, therapeutic recommendations are not evidence based. The Society of Pediatric Oncology and Hematology (GPOH) has prospectively registered and followed children with appendical NET since 1997 (GPOH-MET trial).

Surgical aspects in the treatment of adrenocortical carcinomas in children: data of the GPOH-MET 97 trial.

Adrenocortical carcinomas (ACCs) are a rare entity, with an incidence of 1.5 per million population per year. The prognosis of ACC is poor.

Sorption influenced transport of ionizable pharmaceuticals onto a natural sandy aquifer sediment at different pH.

The pH-dependent transport of eight selected ionizable pharmaceuticals was investigated by using saturated column experiments. Seventy-eight different breakthrough curves on a natural sandy aquifer material were produced and compared for three different pH levels at otherwise constant conditions. The experimentally obtained K(OC) data were compared with calculated K(OC) values derived from two different logK(OW)-logK(OC) correlation approaches.

Sensitivity of fine-needle biopsy in detecting pediatric differentiated thyroid carcinoma.

Background: Differentiated thyroid carcinomas (DTC) are uncommon in children. Since the frequency of malignancy is assumed to be high in pediatric symptomatic thyroid nodules, carcinomas should be ruled out reliably. The objective of this study was to assess the sensitivity of fine-needle biopsy (FNB) in diagnosing children with DTC.

Ameloblastic fibro-odontoma: a clinicopathologic study of 12 cases.

Objective: The ameloblastic fibro-odontoma (AFO) is an uncommon odontogenic tumor occurring in childhood with limited reported data on recurrence. The purpose of this AFO study was to review its clinicopathologic features, investigate treatment modalities and establish a recurrence rate.

Study Design: The clinicopathologic features of 12 new cases of AFO were analyzed and compared with those of 208 cases from the literature, with special emphasis on the clinical behavior, treatment, and recurrence rate.