Desmoplastic Small Round Cell Tumors: Clinical Presentation, Molecular Characterization, and Therapeutic Approach of Seven Patients.

Desmoplastic small round blue cell tumor (DSRCT) is a highly aggressive fatal sarcoma without evidence-based therapeutic guidelines. We present here seven patients with DSRCT including immunohistochemistry combined with fluorescence in situ hybridization (FISH), next generation sequencing (NGS,  = 6) as well as OncoScan array ( = 3) analyses and show consecutive therapeutic approaches. All seven DSRCT patients presented with an extended abdominal mass; median age at diagnosis was 24.

Loss of function mutations of in classical Hodgkin lymphoma.

BCOR is a component of a variant Polycomb repressive complex 1 (PRC1.1). PRC1 and PRC2 complexes together constitute a major gene regulatory system critical for appropriate cellular differentiation.

A Novel Homozygous Frameshift Variant in Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous variants.

Clinical characterization of children and adolescents with NF1 microdeletions.

Purpose: An estimated 5-11% of patients with neurofibromatosis type 1 (NF1) harbour NF1 microdeletions encompassing the NF1 gene and its flanking regions. The purpose of this study was to evaluate the clinical phenotype in children and adolescents with NF1 microdeletions.

Methods: We retrospectively analysed 30 children and adolescents with NF1 microdeletions pertaining to externally visible neurofibromas.

Foreign National Patients in German Prison Psychiatry.

Introduction: Over the past few years, the share of foreign national prisoners in the European and American justice systems has increased at a disproportionately high rate, yet studies on mental health issues among this diverse group are rare. Recent research suggests a range of factors leading to mental health vulnerability in foreign national prisoners, including language barriers, isolation, cultural misunderstanding, and legal standing. Relevant findings of topic-related studies indicate that under-referral to mental health services due to missed or misinterpreted symptoms is a major risk for foreign national prisoners.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease.

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.

T-cell prolymphocytic leukemia (T-PLL) is an aggressive tumor with leukemic presentation of mature T-lymphocytes. Here, we aimed at characterizing the initial events in the molecular pathogenesis of T-PLL and particularly, at determining the point in T-cell differentiation when the hallmark oncogenic events, that is, inv(14)(q11q32)/t(14;14)(q11;q32) and t(X;14)(q28;q11) occur. To this end, we mined whole genome and transcriptome sequencing data of 17 and 11 T-PLL cases, respectively.

Mental health literacy and help-seeking among unemployed people with mental health problems.

Unemployed people with mental health problems often do not use available mental health services. Help-seeking may depend on knowledge, recognition and attitudes associated with mental health - a concept referred to as mental health literacy (MHL). To investigate the influence of MHL on help-seeking intentions and behaviors among unemployed individuals with mental health problems.

Molecular classification of primary mediastinal large B-cell lymphoma using routinely available tissue specimens.

Primary mediastinal large B-cell lymphoma (PMBCL) is recognized as a distinct entity in the World Health Organization classification. Currently, the diagnosis relies on consensus of histopathology, clinical variables, and presentation, giving rise to diagnostic inaccuracy in routine practice. Previous studies have demonstrated that PMBCL can be distinguished from subtypes of diffuse large B-cell lymphoma (DLBCL) based on gene expression signatures.

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.

Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13.

DIEGO: detection of differential alternative splicing using Aitchison's geometry.

Motivation: Alternative splicing is a biological process of fundamental importance in most eukaryotes. It plays a pivotal role in cell differentiation and gene regulation and has been associated with a number of different diseases. The widespread availability of RNA-Sequencing capacities allows an ever closer investigation of differentially expressed isoforms.

Enforced expression of MIR142, a target of chromosome translocation in human B-cell tumors, results in B-cell depletion.

MicroRNA142 (MIR142) is a target of chromosome translocations and mutations in human B-cell lymphomas. We analyzed an aggressive B-cell lymphoma carrying t(8;17)(q24;q22) and t(6;14)(p21;q32), and sought to explore the role(s) of MIR142 in lymphomagenesis. t(8;17)(q24;q22) involved MYC on 8q24 and pri-MIR142 on 17q22.

Functionally Null Missense Mutation Associates Strongly with Ovarian Carcinoma.

RAD51D is a key player in DNA repair by homologous recombination (HR), and truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating variants to cancer predisposition remains uncertain. Using deep sequencing and case-control genotyping studies, we show that in French Canadians, the missense variant c.

CD59: A long-known complement inhibitor has advanced to a blood group system.

The blood group system number 35 is based on CD59, a 20-kDa membrane glycoprotein present on a large number of different cells, including erythrocytes. The major function of CD59 is to protect cells from complement attack. CD59 binds to complement components CS and C9 and prevents the polymerization of C9, which is required for the formation of the membrane attack complex (MAC).

Standardization of Good Manufacturing Practice-compliant production of bone marrow-derived human mesenchymal stromal cells for immunotherapeutic applications.

Background Aims: Human mesenchymal stem or stromal cells (MSCs) represent a potential resource not only for regenerative medicine but also for immunomodulatory cell therapies. The application of different MSC culture protocols has significantly hampered the comparability of experimental and clinical data from different laboratories and has posed a major obstacle for multicenter clinical trials. Manufacturing of cell products for clinical application in the European Community must be conducted in compliance with Good Manufacturing Practice and requires a manufacturing license.

Patient-reported outcome results from the open-label phase III AURELIA trial evaluating bevacizumab-containing therapy for platinum-resistant ovarian cancer.

Purpose: To determine the effects of bevacizumab on patient-reported outcomes (PROs; secondary end point) in the AURELIA trial.

Patients And Methods: Patients with platinum-resistant ovarian cancer were randomly assigned to chemotherapy alone (CT) or with bevacizumab (BEV-CT). PROs were assessed using the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-Ovarian Cancer Module 28 (EORTC QLQ-OV28) and Functional Assessment of Cancer Therapy-Ovarian Cancer symptom index (FOSI) at baseline and every two or three cycles (8/9 weeks) until disease progression.

Second allograft for hematologic relapse of acute leukemia after first allogeneic stem-cell transplantation from related and unrelated donors: the role of donor change.

Purpose: To evaluate the role of a second allogeneic hematopoietic stem-cell transplantation (HSCT2) given for relapsed acute leukemia (AL) after related or unrelated first hematopoietic stem-cell transplantation (HSCT1) and to analyze the role of donor change for HSCT2 in both settings.

Patients And Methods: We performed a retrospective registry study on 179 HSCT2s given for relapse after HSCT1 from matched related donors (n = 75) or unrelated donors (n = 104), using identical or alternative donors for HSCT2. Separate analyses were performed according to donor at HSCT1.

Supportive care in severe and very severe aplastic anemia.

Optimal management of aplastic anemia (AA) is not confined to immediate diagnosis, early decision making and timely initiation of major treatment strategies (immunosuppression or SCT) but also involves supportive treatment as a crucial part of patient care. Patients are threatened by complications of cytopenia. Here, we summarize current recommendations for prevention and early treatment of fungal, bacterial and viral infections, transfusion strategy and iron chelation and assess the evidence basis.

Drugs that inhibit complement.

The complement system is an important part of the innate immune system. Complement plays a crucial role in the pathophysiology of many disorders. Despite the pivotal role of the complement system, an approved targeted inhibitor of a complement factor became available only recently.

Assessing reliability, validity, and clinical utility of the BEST-Index in measuring living skills among forensic inpatients.

The assessment of behavioral change as a result of inpatient treatment in forensic psychiatry is an important precondition for violence risk prediction in forensic psychiatry. In relation to a multitude of diagnostically based risk assessment instruments, there is a shortage of appropriate instruments with which to carry out valid and reliable therapeutic assessments that are behaviorally based and therefore appropriate for use within varied psychiatric contexts. There is also a need for instruments which will offer assessors the opportunity to examine possible relationships between criteria of social risk and criteria of more general aspects of social functioning.

Does a postimplantation syndrome following endovascular treatment of aortic aneurysms exist?

The postimplantation syndrome (PIS) is a weakly defined condition that has been observed following endovascular treatment of aortic aneurysms; the postulated criteria include significant leukocytosis, fever, and/or coagulation disturbances. Among the factors that are supposed to contribute to this syndrome are contact activation by the stent covering with consecutive endothelial activation. Associated clinical parameters of a PIS were perioperatively monitored in the postoperative phase in a total of 69 patients with infrarenal aortic aneurysms treated with Y-stent grafts.