Succinate dehydrogenase mutations: paraganglioma imaging and at-risk population screening

Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a feasible MPS screening algorithm and established a cross-specialty collaboration platform between medical geneticists and other medical specialists based on at-risk criteria to allow for an earlier confirmative diagnosis of MPS. Methods: Children (<19 years of age) with clinical signs and symptoms compatible with MPS were prospectively enrolled from pediatric clinics between July 2013 and June 2018. Urine samples were collected for a non-specific total GAG analysis using the dimethylmethylene blue (DMB) spectrophotometric method, and the quantitation of three urinary GAGs (dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)) was performed by liquid chromatography/tandem mass spectrometry (LC-MS/MS). The subjects with elevated urinary GAG levels were recalled for leukocyte enzyme activity assay and genetic testing for confirmation. Results: Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years—three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). The major signs and symptoms with regards to different systems recorded by pediatricians at the time of the decision to test for MPS were the musculoskeletal system (55%), followed by the neurological system (45%) and coarse facial features (39%). For these 13 patients, the median age at the diagnosis of MPS was 2.9 years. The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. However, there were no false negative results with urinary DS, HS and KS using the MS/MS-based method. Conclusions: We established an at-risk population screening program for MPS by measuring urinary GAG fractionation biomarkers using the LC-MS/MS method. The program included medical geneticists and other medical specialists to increase awareness and enable an early diagnosis by detecting MPS at the initial onset of clinical symptoms.

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Towards Polio Eradication in Nigeria: Identifying at Risk Population for Low Oral Polio Vaccine (OPV) Uptake

PEDIATRICS ◽

10.1542/peds.137.supplement_3.389a ◽

2016 ◽

Vol 137 (Supplement 3) ◽

pp. 389A-389A

Author(s):

Oluyemisi O. Falope ◽

Korede K. Adegoke ◽

Chukwudi O. Ejiofor ◽

Nnadozie C. Emechebe ◽

Taiwo O Talabi ◽

...

Keyword(s):

At Risk ◽

Oral Polio Vaccine ◽

Polio Eradication ◽

Risk Population ◽

Polio Vaccine

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Breast Cancer Screening:Are ‘At Risk Population’ Known by Public Health Nurse Practitioners?

Indian Journal of Public Health Research & Development ◽

10.37506/v11/i2/2020/ijphrd/194853 ◽

2020 ◽

Vol 11 (2) ◽

pp. 501

Author(s):

G. M. Venkatesh ◽

Anon Anon

Keyword(s):

Public Health ◽

Breast Cancer ◽

At Risk ◽

Nurse Practitioners ◽

Public Health Nurse ◽

Risk Population ◽

Health Nurse

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Influenza vaccination during the coronavirus pandemic: intention to vaccinate among the at-risk population in the Central Catalonia Health Region (VAGCOVID)

BMC Family Practice ◽

10.1186/s12875-021-01434-8 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Anna Bonet-Esteve ◽

Raquel Muñoz-Miralles ◽

Carla Gonzalez-Claramunt ◽

Ana M Rufas ◽

Xavier Pelegrin Cruz ◽

...

Keyword(s):

At Risk ◽

Influenza Vaccine ◽

Influenza Vaccination ◽

Vaccination Coverage ◽

Perceived Risk ◽

Seasonal Influenza ◽

Public Health Issue ◽

Risk Population ◽

Previous Season ◽

The Individual

Abstract Background Influenza is a major public health issue, with the primary preventive measure being an annual influenza vaccination. Nevertheless, vaccination coverage among the at-risk population is low. Our understanding of the behaviour of the influenza virus during the SARS-CoV-2 coronavirus pandemic is limited, meaning influenza vaccination is still recommended for individuals at risk for severe complications due to influenza infection. The aim of the study is to determine the intention to vaccinate against seasonal influenza among the at-risk population in the 2020-21 campaign during the SARS-CoV-2 pandemic and to analyse the factors which influence such intention. Methods Cross-sectional telephone survey of adults (aged over 18) with risk factors in central Catalonia where the need for the Seasonal Influenza Vaccine (SIV) was recommended. Results A total of 434 participants responded to the survey, 43.3% of whom intended to be vaccinated against influenza for the 2020-2021 influenza season, 40.8% had no intention to be vaccinated and 15.9% were uncertain or did not express their opinion. The intention to get vaccinated against influenza is associated with having dependents, the individual’s perception of the risk of being infected with influenza and the perceived risk of transmission to dependents. It is also associated with age, whether the individual had received influenza vaccine the previous season or any other season before. The best predictors of the intention to vaccinate are the individual’s perception of the risk of catching influenza and whether the individual had been vaccinated in the previous season. Conclusions Intention to vaccinate can be a good predictor of individual behaviour in relation to vaccination. During the current SARS-CoV-2 pandemic many individuals are hesitant to influenza vaccination. In order to improve influenza vaccination coverage in people included in risk groups, it is necessary to promote educational actions, especially among those who express doubts.

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Assessing COVID-19 susceptibility through analysis of the genetic and epigenetic diversity of ACE2-mediated SARS-CoV-2 entry

Pharmacogenomics ◽

10.2217/pgs-2020-0092 ◽

2020 ◽

Vol 21 (18) ◽

pp. 1311-1329

Author(s):

Georgia Ragia ◽

Vangelis G Manolopoulos

Keyword(s):

At Risk ◽

Genetic Factors ◽

Genetic Data ◽

Disease Course ◽

Risk Population ◽

Epigenetic Diversity

There is considerable variation in disease course among individuals infected with SARS-CoV-2. Many of them do not exhibit any symptoms, while some others proceed to develop COVID-19; however, severity of COVID-19 symptoms greatly differs among individuals. Focusing on the early events related to SARS-CoV-2 entry to cells through the ACE2 pathway, we describe how variability in (epi)genetic factors can conceivably explain variability in disease course. We specifically focus on variations in ACE2, TMPRSS2 and FURIN genes, as central components for SARS-CoV-2 infection, and on other molecules that modulate their expression such as CALM, ADAM-17, AR and ESRs. We propose a genetic classifier for predicting SARS-CoV-2 infectivity potential as a preliminary tool for identifying the at-risk-population. This tool can serve as a dynamic scaffold being updated and adapted to validated (epi)genetic data. Overall, the proposed approach holds potential for better personalization of COVID-19 handling.

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