Clinical Management of Moyamoya Patients

Moyamoya angiopathy (MMA) is a peculiar cerebrovascular condition characterized by progressive steno-occlusion of the terminal part of the internal carotid arteries (ICAs) and their proximal branches, associated with the development of a network of fragile collateral vessels at the base of the brain. The diagnosis is essentially made by radiological angiographic techniques. MMA is often idiopathic (moyamoya disease-MMD); conversely, it can be associated with acquired or hereditary conditions (moyamoya Syndrome-MMS); however, the pathophysiology underlying either MMD or MMS has not been fully elucidated to date, and this poor knowledge reflects uncertainties and heterogeneity in patient management. MMD and MMS also have similar clinical expressions, including, above all, ischemic and hemorrhagic strokes, then headaches, seizures, cognitive impairment, and movement disorders. The available treatment strategies are currently shared between idiopathic MMD and MMS, including pharmacological and surgical stroke prevention treatments and symptomatic drugs. No pharmacological treatment able to reverse the progressive disappearance of the ICAs has been found to date in both idiopathic and syndromic cases. Antithrombotic agents are usually prescribed in ischemic MMA, although the coexisting hemorrhagic risk should be considered. Surgical revascularization techniques, which are currently the best available treatment in symptomatic MMA, are associated with good long-term outcomes and reduced ischemic and hemorrhagic risks. Given the lack of dedicated randomized clinical trials, current treatment is mainly based on observational studies and physicians’ and surgeons’ expertise.

National Health Service interventions in England to improve care to Armed Forces veterans

Armed Forces veterans (AFVs) are first and foremost citizens of the UK and are therefore—like all UK residents—entitled to universal healthcare, free at the point of need. This means that AFVs have nearly all their healthcare needs met by the NHS, which provides access to a full range of generic services. However, since 2013 there has been an Armed Forces team that can also support veterans. This review is an assessment of the work of this group over the last eight years. The health needs of AFVs have been investigated and are not significantly different from those of their demographically matched peers. However, due to their demographics, selection at recruitment and their roles, AFVs compared with the general population are more likely to be male, white and old and have fewer pre-existing or hereditary conditions. However, they do suffer from higher rates of musculoskeletal injury, different patterns of mental health illness and have historically been higher users—and abusers—of alcohol and tobacco. In addition to supporting mainstream services used by AFVs, the NHS in England commissions a bespoke range-specific ‘Priority’ NHS services such as those for mental health or for rehabilitation of veterans using prostheses. New interventions are continuing to be developed to improve AFVs’ healthcare and are aligned to the NHS Long Term Plan and the restoration and recovery plans after the COVID-19 pandemic.

Healthcare professionals’ responsibility for informing relatives at risk of hereditary disease

Advances in genetic diagnostics lead to more patients being diagnosed with hereditary conditions. These findings are often relevant to patients’ relatives. For example, the success of targeted cancer prevention is dependent on effective disclosure to relatives at risk. Without clear information, individuals cannot take advantage of predictive testing and preventive measures. Against this background, we argue that healthcare professionals have a duty to make actionable genetic information available to their patients’ at-risk relatives. We do not try to settle the difficult question of how this duty should be balanced against other duties, such as the duty of confidentiality and a possible duty not to know one’s genetic predisposition. Instead, we argue for the importance of recognising a general responsibility towards at-risk relatives, to be discharged as well as possible within the limits set by conflicting duties and practical considerations. According to a traditional and still dominant perspective, it is the patient’s duty to inform his or her relatives, while healthcare professionals are only obliged to support their patients in discharging this duty. We argue that this perspective is a mistake and an anomaly. Healthcare professionals do not have a duty to ensure that their patients promote the health of third parties. It is often effective and desirable to engage patients in disseminating information to their relatives. However, healthcare professionals should not thereby deflect their own moral responsibility.

Austrian and Czech neuroscience becomes “coordinated” under National Socialism

The Austrian neuroscience consolidation came swiftly and terribly on “non-Aryans.” Austrian anti-Semitism was arguably even more virulent than in Germany. And laws had already escalated in Nazi Germany to the point that Jewish physicians at most could only treat other Jews as derogatorily called “sick treaters”; these laws were instantly applicable in “annexed” Austria, with no stepwise progressive disfranchisement. Even “Aryan” neurologists who were thought to be unsympathetic to the Nazi movement were dismissed shortly after the “annexation.” The Vienna university neurology clinic was taken over primarily by SS neurologists who had been “illegal” Nazis before the annexation and were extremely dedicated to the Nazi cause. At least one, Walther Birkmayer, spoke of expanding the sterilization law to other hereditary conditions not stipulated already by the law. At least nine racial or political neuroscientist replacements, including directors of institutes, led to racial hygiene consequences, including execution of sterilization and euthanasia programs.

Pancreatic Neuroendocrine Neoplasms: Landscape and Horizon

Context.— Since the initial description of pancreatic endocrine physiology and the recognition of islet cell tumors in the 1800s, there have been noteworthy advances in the pathobiology of pancreatic neuroendocrine neoplasms (PanNENs), and definition of the important distinction between well-differentiated neuroendocrine tumor (PanNET) and poorly differentiated neuroendocrine carcinoma (PanNEC). The evolving knowledge has resulted in a continuous update in terminology, classification, and grading system for this group of neoplasms. Pancreatic neuroendocrine tumors associated with hereditary conditions have been linked to unique molecular and genetic events, and sporadic PanNETs have specific gene signatures. Based on accumulative experience and knowledge, therapeutic strategies have been defined for this group of neoplasms. Objective.— To review the evolution and description of the pathologic-genomic evolution of PanNENs, and to facilitate accurate pathologic interpretation for the corresponding clinical management. Data Sources.— Literature review of published studies and author's own work. Conclusions.— Evolving experience and knowledge have established subtypes of pancreatic neuroendocrine neoplasms, based on their genotype and phenotype. Accurate pathologic interpretation of the specific neoplasm has significant implications for therapy and prognosis.

Yellow or orange colouration

This chapter discusses yellow or orange discolouration of the skin, which is uncommon in children. It can occur due to accumulation of carotene in the skin, usually from infant diets containing too much carotene. Rarely, metabolic causes such as chronic renal failure or xanthomas are a cause. Xanthomas are accumulation of lipids or fat in the skin and are usually due to hereditary conditions when it manifests in children. Chronic renal failure makes the skin appear pale and yellowish mainly due to the associated anaemia and sometimes from the accumulation of metabolites in the skin. Naevi (e.g. naevus sebaceous) and rare genetic conditions (e.g. pseudoxanthoma elasticum) may exhibit a yellow/orange colour, as may palmoplantar keratoderma, as seen in some rare genetic disorders.