The incidence of Chiari malformation in nonsyndromic, single suture craniosynostosis

Introduction  

This study was designed to determine the incidence of Chiari malformation (CM) in nonsyndromic single suture craniosynostosis (N-SSSC).     

Burn injuries requiring hospitalization for infants younger than 1 year

To investigate burn injuries requiring hospitalization sustained during the first year of life, clinical data collected during hospital treatment of infants younger than 1 year were reviewed. The principal aim was to chart the etiology and mechanism of burn injuries in this group to focus on the necessary preventive measures. The authors also review literature focusing especially on children younger than 1 year. Patients identified in the electronic database were referred to the Hospital for Children and Adolescents, Helsinki University Hospital, Helsinki, Finland, from January 2005 to December 2009. Specific inclusion criteria yielded a cohort of 20 patient records, which accounted for 3% of the 692 admissions due to pediatric burn injury during the 5-year study period. The male to female ratio was 1:1.5 and the mean age was 6.3 months. Most burns were sustained at home during domestic tasks and were most often witnessed. The etiology in the majority of the cases was scalding (85%), while contact burns accounted for the remaining. The final TBSA ranged from 0.5 to 40% (mean 8.5%). In 13 cases (65%), the initial TBSA was overestimated. Overall, it was concluded that burn injuries in this age group are most often witnessed and take place while the infant is being held at the same time as the hot item. Parental education on typical situations in which burn injuries happen in preambulatory infants may help reduce the number of burn injuries.     

Molecular alterations in pediatric brainstem gliomas

1 Background

Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27‐mutated diffuse midline gliomas, and whether rare long‐term survivors also belong to this group.

2 Methods

We studied tumor samples obtained at diagnosis or upon autopsy from 23 children, including two long‐term survivors. Based on clinical, radiological, and histological findings, all tumors were previously diagnosed as DIPGs. All samples were analyzed for genetic alterations by next‐generation sequencing (NGS) and for protein expression by immunohistochemistry (IHC).

3 Results

H3 K27 was mutated in NGS or IHC in 20 patients, excluding both long‐term survivors. One of these long‐term survivors harbored a mutation in IDH1, formerly considered to be an alteration absent in pediatric diffuse brainstem gliomas. Other altered genes in NGS included TP53 (10 patients), MET and PDGFRA (3 patients each), VEGFR and SMARCA4 (2 patients each), and PPARγ, PTEN and EGFR in 1 patient, respectively. IHC revealed cMYC expression in 15 of 24 (63%) of all samples, exclusively in the biopsies.

4 Conclusions

Eighty‐seven percent of the tumors formerly diagnosed as DIPGs could be reclassified as H3 K27‐mutated diffuse midline gliomas. Both long‐term survivors lacked this alteration. Contrary to former conceptions, IDH1 mutations may occur also in pediatric brainstem gliomas.     

Setting Limits: Gambling,Science and Public Policy—summary of results

The gambling industry has grown into a global business in the 21st century. This has created the need for a new emphasis on problem prevention. This article highlights the core themes of the book Setting Limits: Gambling, Science and Public Policy, taking a broad view of the consequences of gambling for society as a burden on health, well-being and equality. The book covers the extent of gambling and gambling-related problems in different societies and presents a critical review of research on industry practices, policy objectives and preventive approaches, including services to people suffering from gambling and its consequences. It discusses the developments in game characteristics and gambling environments and provides evidence on how regulation can affect those. Effective measures to minimize gambling harm exist and many are well supported by scientific evidence. They include restrictions on general availability as well as selective measures to prevent gamblers from overspending. The revenue generated from gambling for the industry, governments, and providers of public services funded from gambling returns presents an obstacle to developing policies to implement harm-reduction measures. A public interest approach must weigh these interests against the suffering and losses of the victims of gambling.     

Initiation of the proton pump of cytochrome c oxidase

Cytochrome c oxidase is the terminal enzyme of the respiratory chain that is responsible for biological energy conversion in mitochondria and aerobic bacteria. The membrane-bound enzyme converts free energy from oxygen reduction to an electrochemical proton gradient by functioning as a redox-coupled proton pump. Although the 3D structure and functional studies have revealed proton conducting pathways in the enzyme interior, the location of proton donor and acceptor groups are not fully identified. We show here by time-resolved optical and FTIR spectroscopy combined with time-resolved electrometry that some mutant enzymes incapable of proton pumping nevertheless initiate catalysis by proton transfer to a proton-loading site. A conserved tyrosine in the so-called D-channel is identified as a potential proton donor that determines the efficiency of this reaction.     

Tenascin-C expression in Merkel cell carcinoma lymph node metastasis

Expression of tenascin-C (Tn-C) has been shown to correlate with invasion and metastasis in Merkel cell carcinoma (MCC). Cytokeratin-20 (CK-20) is used in differential diagnostics of the primary tumour. The aim of this study was to demonstrate the expression of Tn-C in MCC lymph node metastases. Immunohistochemical staining was performed for five metastatic lymph nodes using a monoclonal antibody against Tn-C and CK-20. All five metastatic lymph nodes expressed Tn-C. The expression concentrated around the vascular structures, invasion borders and fibrotic septae. One of the metastatic lymph nodes was strongly positive for CK-20 while the others showed a focal or negative pattern. The normal lymphoid tissue was negative for Tn-C. Tn-C detected metastatic MCC tissue within the lymph nodes undisputedly. There was a clear distinction between the metastatic and normal lymphatic tissue. Furthermore, invasion to the surrounding tissue was easily demonstrated. Contrary to previous studies, CK-20 expression seemed to fluctuate.