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07:08 EDT 26th September 2018 | BioPortfolio

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Presidential address 2017 William Harkness FRCS October 10th 2017 Denver, Co USA: 2017-annus mirabilis, a global view of neurosurgery for children.

The following presidential address was delivered at the 45th Annual Meeting of the ISPN held in Denver, CO, USA in October 2017.

Has Rotavirus Vaccination Decreased the Prevalence of Biliary Atresia?

Biliary atresia (BA) is a rare neonatal liver disease that causes cholestasis and is the leading indication for pediatric liver transplantation. Although the exact etiology of BA remains unknown, evidence from murine models supports the role of rotavirus infection in the development of BA. In 2006, universal rotavirus vaccination was implemented in the United States. The goal of this study was to determine if the prevalence of BA correlated with the number of annual rotavirus infections.

Neonatal Behçet Disease.

Behçet's disease is a multi-system disease with inflammatory infestations, in particular of the small and middle arteries and veins. Histologically, the disease presents with the image of leukocytoclastic vasculitis. The etiology of Behçet disease is unknown, but genetic factors are discussed of playing a role in its pathogenesis. There is no known autoantibody, which could serve as a diagnostic tool. The disease usually affects patients in the 3. life decade and is rare in pediatrics. A very rare clinica...

Data integration for the assessment of population exposure to ambient air pollution for global burden of disease assessment.

Air pollution is a leading global disease risk factor. Tracking progress (e.g. for Sustainable Development Goals) requires accurate, spatially resolved, routinely updated exposure estimates. A Bayesian Hierarchical Model was developed to estimate annual average fine particle (PM2.5) concentrations at 0.1° × 0.1° spatial resolution globally for 2010-2016. The model incorporated spatially-varying relationships between 6003 ground measurements from 117 countries, satellite-based estimates and other predicto...

Progress and Remaining Gaps in Estimating the Global Disease Burden of Influenza.

Influenza has long been a global public health priority because of the threat of another global pandemic. Although data are available for the annual burden of seasonal influenza in many developed countries, fewer disease burden data are available for low-income and tropical countries. In recent years, however, the surveillance systems created as part of national pandemic preparedness efforts have produced substantial data on the epidemiology and impact of influenza in countries where data were sparse. These...

Dominant regions and drivers of the variability of the global land carbon sink across timescales.

Net biome productivity (NBP) dominates the observed large variation of atmospheric CO annual increase over the last five decades. However, the dominant regions controlling inter-annual to multi-decadal variability of global NBP are still controversial (semi-arid regions vs. temperate or tropical forests). By developing a theory for partitioning the variance of NBP into the contributions of net primary production (NPP) and heterotrophic respiration (R ) at different timescales, and using both observation-bas...

Acute Macular Neuroretinopathy Phenotype in Behçet's Disease.

Acute macular neuroretinopathy (AMN) is a rare disease, the etiology of which remains unclear. An ischemic event at the level of the deep capillary plexus has been proposed. The authors present three cases of AMN in the context of active systemic Behçet's disease, with the support of multimodal imaging. All patients were known to have Behçet's disease before the diagnosis of AMN. AMN was confirmed in all three cases on spectral domain optical coherence tomography (SD-OCT), near infrared reflectance and OC...

Effect of Using Ergobrass Ergonomic Supports on Postural Muscles in Trumpet, Trombone, and French Horn Players.

Though ergonomic supports are widely used for many groups of instruments, they are rare for brass instruments, despite the instruments' considerable weight. Musculoskeletal injury and postural problems are common among this group, and so, both adult and young players are likely to benefit from supports that reduce the load placed on the body. This study assessed the effects on postural muscle activity of a recently developed range of supports (Ergobrass) that use a rod to transfer the weight of the instrume...

Intercellular Spread of Protein Aggregates in Neurodegenerative Disease.

Most neurodegenerative diseases are characterized by the accumulation of protein aggregates, some of which are toxic to cells. Mounting evidence demonstrates that in several diseases, protein aggregates can pass from neuron to neuron along connected networks, although the role of this spreading phenomenon in disease pathogenesis is not completely understood. Here we briefly review the molecular and histopathological features of protein aggregation in neurodegenerative disease, we summarize the evidence for ...

Recurrent intestinal ischemia related to Behçet's Disease.

Behçet's disease is a systemic inflammatory disease that may affect multiple organs. However, intraabdominal complications requiring surgical intervention are rare in the natural course of the disease. A 32-year-old male patient with Behçet's disease who had been followed for 5 years with a diagnosis of acute abdominal syndrome was operated on twice in 18 days. Intestinal ischemia was identified in different segments of the jejenum during each operation. Recurrent segmental intestinal ischemia within a sh...

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Abnormal plasma apolipoprotein levels are consistently implicated in cardiovascular disease risk. Although 30% to 60% of their inter-individual variability is genetic, common genetic variants explain only 10% to 20% of these differences. Rare genetic variants may be major sources of the missing heritability, yet quantitative evaluations of their contribution to phenotypic variability are lacking. Here, we analyzed whole-genome and whole-exome sequencing data from 138,632 individuals across seven major human...

Time to tackle rheumatic heart disease: Data needed to drive global policy dialogues.

Rheumatic heart disease (RHD) is an avoidable disease of poverty that persists predominantly in low resource settings and among Indigenous and other high-risk populations in some high-income nations. Following a period of relative global policy inertia on RHD, recent years have seen a resurgence of research, policy and civil society activity to tackle RHD; this has culminated in growing momentum at the highest levels of global health diplomacy to definitively address this disease of disadvantage. RHD is ine...

Global Emergency Medicine: A review of the literature from 2017.

The Global Emergency Medicine Literature Review (GEMLR) conducts an annual search of peer-reviewed and gray literature relevant to global emergency medicine (EM) to identify, review, and disseminate the most important new research in this field to a global audience of academics and clinical practitioners.

Conference Report: 10th Clinical Trials on Alzheimer's Disease (CTAD), Boston MA, USA, November 1-4, 2017.

Pancreatic cancer presenting as colonic disease. A rare case report.

Pancreatic cancer is the fourth major cause of cancer-related deaths. About 50% of the patients are diagnosed with advanced disease. Metastatic disease to the colon is a very rare entity with only 5 cases described in english literature.

Global perspectives on patient safety: the annual Minnesota report.

John Tingle, Associate Professor (Teaching and Scholarship), Nottingham Trent University, discuss the latest annual public report on adverse health events from the Minnesota Department of Health in the USA.

Analysis of Genes Associated with Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's disease.

A few rare monogenic primary immunodeficiencies (PID) are characterized by chronic intestinal inflammation that resembles Crohn's disease (CD). We investigated whether 23 genes associated with 10 of these monogenic disorders contain common, low-frequency or rare variants that increase risk for CD.

Ptosis and Mass Like Lesions in Behçet's Disease: A Rare Presentation.

In this article, we describe a case of neuro-Behçet's disease presenting with unilateral ptosis and facial paresis due to an intracranial mass lesion. A 25-year-old male patient with a history of Behçet's disease presented with headache, vertigo, double vision, ptosis in his right eyelid and slurred speech. Cranial magnetic resonance imaging scan revealed a right-sided capsulothalamic lesion, which was extending to the right cerebral pedicle, pons and superior cerebellar pedicle. This lesion was interpret...

Characteristics of clinical trials in rare vs. common diseases: A register-based Latvian study.

Conducting clinical studies in small populations may be very challenging; therefore quality of clinical evidence may differ between rare and non-rare disease therapies.

FLO1K, global maps of mean, maximum and minimum annual streamflow at 1 km resolution from 1960 through 2015.

Streamflow data is highly relevant for a variety of socio-economic as well as ecological analyses or applications, but a high-resolution global streamflow dataset is yet lacking. We created FLO1K, a consistent streamflow dataset at a resolution of 30 arc seconds (~1 km) and global coverage. FLO1K comprises mean, maximum and minimum annual flow for each year in the period 1960-2015, provided as spatially continuous gridded layers. We mapped streamflow by means of artificial neural networks (ANNs) regressio...

Multiorgan involvement of Behçet's disease in a young woman.

Behçet's disease is a rare disorder of unknown etiology that is classified as a systemic vasculitis. The prevalence of the disease is high in countries in the Far East, Mediterranean Basin, and East Asia. Thus, it is also known as the Silk Road Disease. Behçet's disease is characterized by recurrent oral aphthous ulcers, genital sores, and ocular lesions. However, it can present with severe clinical manifestations as a result of cardiovascular system, central nervous system, and gastrointestinal tract inv...

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls. As expected, variants in or near RET ...

Brucellosis is a public health problem in southern Italy: Burden and epidemiological trend of human and animal disease.

Brucellosis is the most common global bacterial zoonotic disease. Italian annual 2015 report on animal brucellosis control that was submitted to the Integrated National Plan of the Italian Health Ministry showed that the Italian region with the highest prevalence and incidence of brucellosis was Sicily (3.3%). This study aims to demonstrate the burden of disease and the epidemiological trend of human and animal brucellosis in Messina, Sicily, from 1997 to 2016.

A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema.

Panniculitis, pancreatitis, and polyarthritis: a rare clinical syndrome.

A rare triad composed of lobular panniculitis in the setting of pancreatitis and polyarthritis is termed panniculitis, pancreatitis, and polyarthritis (PPP) syndrome. Pancreatic panniculitis is a rare form of subcutaneous fat necrosis associated with underlying pancreatic disease. We describe a case of PPP syndrome and review the relevant literature associated with this rare clinical syndrome. Despite numerous adjuvant therapies, definitive treatment of PPP syndrome requires correction of the underlying pan...

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