Reducing global health inequalities for a rare disorder: evaluating the international Prader-Willi Syndrome Organisation's Echo programme.

Background: People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in that country. The International Prader-Willi Syndrome Organisation (IPWSO) established Project ECHO with the aim of facilitating the sharing of knowledge and the building of international partnerships to reduce global health inequalities for a particular rare genetically-determined neurodevelopmental disorder, Prader-Willi Syndrome (PWS). Four different ECHO programmes were established for the following groups: (a) Individuals (usually parents) who had taken on a leadership role in their country; (b) health professionals interested in PWS; (c) professional care providers supporting children and adults with PWS; and (d) a Latin American ECHO in Spanish.

Average thickness of the bones of the human neurocranium: development of reference measurements to assist with blunt force trauma interpretations.

The accurate interpretation of a blunt force head injury relies on an understanding of the case circumstances (extrinsic variables) and anatomical details of the individual (intrinsic variables). Whilst it is often possible to account for many of these variables, the intrinsic variable of neurocranial thickness is difficult to account for as data for what constitutes 'normal' thickness is limited. The aim of this study was to investigate the effects of age, sex and ancestry on neurocranial thickness, and develop reference ranges for average neurocranial thickness in the context of those biological variables.

The PERFORM-P (Principles of Evidence-based Reporting in FORensic Medicine-Pathology version).

Introduction: Most findings of forensic pathology examinations are presented as written reports. There are currently no internationally accepted recommendations for writing forensic pathology reports. Existing recommendations are also varied and reflect the differences in the scope and role of forensic medical services and local settings in which they are to be implemented.

Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Although melanoma is initiated by acquisition of point mutations and limited focal copy number alterations in melanocytes-of-origin, the nature of genetic changes that characterise lethal metastatic disease is poorly understood. Here, we analyze the evolution of human melanoma progressing from early to late disease in 13 patients by sampling their tumours at multiple sites and times. Whole exome and genome sequencing data from 88 tumour samples reveals only limited gain of point mutations generally, with net mutational loss in some metastases.