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Book
Newborn Screening for Cystic Fibrosis
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Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast to a clinical diagnosis, infants are now referred for diagnostic testing after a positive NBS result. The introduction of NBS has enabled the provision of early appropriate treatment to prevent the manifestations of the disease. In the near future, early diagnosis will facilitate the prompt use of new CFTR modulator therapies that correct the basic underlying molecular defect. NBS for CF has been a global success but continues to raise questions with many varied approaches and the development of new technologies, in particular the ability to undertake extensive gene examination. Which is the best protocol to achieve high sensitivity and specificity, and how to evaluate and manage infants with inconclusive diagnosis are all subjects of ongoing discussion. It is also open to question: what is the best approach to informing and counselling the parents about a positive or inconclusive NBS result? These questions are not easy to answer and require a balanced solution that reflects the local health care system and may appropriately result in different answers around the globe. The articles in this book try to answer these questions and give an overview of the current state of knowledge in NBS for CF.

Keywords

Medicine --- newborn screening --- immunoreactive trypsin(ogen) --- dried blood spot --- radioimmunoassay --- DNA --- cystic fibrosis --- incidence --- malnutrition --- cost --- health policy --- CF transmembrane conductance regulator-related metabolic syndrome --- CF screen positive --- inconclusive diagnosis --- DNA analysis --- next generation sequencing --- extended genetic analysis --- presumptive diagnosis --- sweat test --- parental information --- newborn bloodspot screening --- psychological impact --- biochemical screening --- pancreatitis associated protein --- immunoreactive trypsinogen --- cystic fibrosis screen positive --- inconclusive diagnosis (CFSPID) --- bioethics --- newborn screen --- target disorder --- missed case --- sensitivity --- CFSPID --- immunoreactive trypsin --- meconium ileus --- diagnosis --- therapy --- prognosis --- newborn screening --- immunoreactive trypsin(ogen) --- dried blood spot --- radioimmunoassay --- DNA --- cystic fibrosis --- incidence --- malnutrition --- cost --- health policy --- CF transmembrane conductance regulator-related metabolic syndrome --- CF screen positive --- inconclusive diagnosis --- DNA analysis --- next generation sequencing --- extended genetic analysis --- presumptive diagnosis --- sweat test --- parental information --- newborn bloodspot screening --- psychological impact --- biochemical screening --- pancreatitis associated protein --- immunoreactive trypsinogen --- cystic fibrosis screen positive --- inconclusive diagnosis (CFSPID) --- bioethics --- newborn screen --- target disorder --- missed case --- sensitivity --- CFSPID --- immunoreactive trypsin --- meconium ileus --- diagnosis --- therapy --- prognosis


Book
Newborn Screening for Cystic Fibrosis
Authors: ---
Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast to a clinical diagnosis, infants are now referred for diagnostic testing after a positive NBS result. The introduction of NBS has enabled the provision of early appropriate treatment to prevent the manifestations of the disease. In the near future, early diagnosis will facilitate the prompt use of new CFTR modulator therapies that correct the basic underlying molecular defect. NBS for CF has been a global success but continues to raise questions with many varied approaches and the development of new technologies, in particular the ability to undertake extensive gene examination. Which is the best protocol to achieve high sensitivity and specificity, and how to evaluate and manage infants with inconclusive diagnosis are all subjects of ongoing discussion. It is also open to question: what is the best approach to informing and counselling the parents about a positive or inconclusive NBS result? These questions are not easy to answer and require a balanced solution that reflects the local health care system and may appropriately result in different answers around the globe. The articles in this book try to answer these questions and give an overview of the current state of knowledge in NBS for CF.


Book
The blue man and other stories of the skin
Author:
ISBN: 0520952502 9780520952508 1306320852 9781306320856 9780520272866 0520272862 Year: 2014 Publisher: Berkeley

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Written by a leading dermatologist, The Blue Man and Other Stories of the Skin provides a compelling and accessible introduction to the life of our largest organ, while also recounting the author's experiences with memorable patients he has treated who suffer from mysterious skin conditions. Robert Norman begins by highlighting the qualities of the skin, tracing the history of its conditions and diseases, then examining the cultural, social and psychological impact of both color and irregularity. The book also features an absorbing collection of stories about some of his most intriguing patients: from a man whose skin mysteriously turned blue, to a hypochondriacal woman who begins to show signs of a life-threatening disease. This is a fascinating account of the dynamic nature of the skin, and the people who inhabit it.


Periodical
International journal of applied behavioral economics.
Authors: ---
ISSN: 21609810 Year: 2012 Publisher: Hershey, PA : IGI Publishing,


Book
The Impact of the COVID-19 Emergency on the Quality of Life of the General Population
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

COVID-19 is a pandemic that has forced many states to declare restrictive measures in order to prevent its wider spread. These measures are necessary to protect the health of adults, children, and people with disabilities.Long quarantine periods could cause an increase in anxiety crises, fear of contagion, and post-traumatic stress disorder (frustration, boredom, isolation, fear, insomnia, and difficulty concentrating).Post-traumatic stress disorder (PTSD) is a condition that can develop in subjects who have witnessed a traumatic, catastrophic, or violent event, or who have become aware of a traumatic experience that happened to a loved one.In fact, from current cases, it emerges that the prevalence of PTSD varies from 1% to 9% in the general population and can reach 50%–60% in subgroups of subjects exposed to traumas considered particularly serious. PTSD develops as a consequence of one or more physical or psychological traumatic events, such as exposure to natural disasters such as earthquakes, fires, floods, hurricanes, tsunamis; wars, torture, death threats; road accidents, robbery, air accidents; diseases with unfavorable prognoses; complicated or traumatic mourning; physical and sexual abuse and abuse during childhood; or victimization and discrimination based on gender, sexual orientation, or gender identity. It can also develop following changes in lifestyle habits caused by the COVID-19 epidemic.Thank you for reading the manuscripts in this Special Issue, "The Impact of the COVID-19 Emergency on the Quality of Life of the General Population".

Keywords

Technology: general issues --- History of engineering & technology --- COVID-19 --- pandemic --- anxiety --- psychopathological symptomatology --- mood --- post-traumatic stress disorder (PTSD) --- emergency --- autism --- children --- diagnosis --- intervention --- parents --- remote --- depression --- EPDS --- pregnancy --- SARS-CoV-2 --- psychiatry --- infectious disease --- healthcare personnel --- psychopathological symptoms --- mental health --- neurological --- psychological --- inflammation --- COVID-19 pandemic --- ERT --- lysosomal storage disease --- psychological impact --- antibodies --- serological test --- SLE --- GAD-7 --- PHQ-9 --- ISI --- quarantine --- burnout --- health professionals --- stress --- prevention --- virus’ transmission --- fear of contagion --- breathing difficulty --- healthy adolescents --- emotion awareness --- state anxiety --- risk perception of COVID-19 --- meaning-based resources --- psychological well-being --- resilience --- emergency services --- adversity --- lockdown --- personality --- public health --- coping --- psychological distress --- public --- Ireland --- physical activity (PA) --- undergraduates --- university students --- chronic pain --- triggers --- well-being --- occupational balance --- social distancing --- home confinement --- coronavirus --- interpersonal violence --- sense of coherence --- Covid-19 --- psychiatric patients --- worry --- risk perception --- mental illness --- attitudes --- knowledge --- practices --- spirituality --- Indonesia --- quality of life --- stress disorder --- living together --- emotional bond --- coronavirus disease --- psychological health --- general population --- somatic symptoms --- Quality of Life --- gender differences --- WHOQOL-BREF --- health --- health psychology --- Italy --- public mental health --- physical activity --- Kosovo --- restrictions --- 15D --- vaccination --- community pharmacists --- DASS-21 --- emotional distress --- chronic diseases --- Hashimoto’s disease --- frailty --- telemedicine --- gerontechnology --- wearable sensors --- shelter-in-place measures --- resting heart rate --- sleep duration --- activity pattern --- consultation --- comprehensive health care --- pandemics --- dentist --- fear --- insomnia --- preventive behavior --- fear of Covid-19 --- Athens Insomnia Scale --- psychological coping --- students --- general self-reported health --- gender --- cross-national study --- primary healthcare --- access to healthcare --- treatment effectiveness --- perceived control over time --- COVID-19 fear --- vitality --- emotion --- general anxiety disorder-7 (GAD-7) --- older adults --- short health anxiety inventory (SHAI) --- state-trait anxiety inventory (STAI) --- stomatognathic system --- COVID-19 confinement --- prospective memory --- working memory --- psychological wellbeing --- emotions --- Egyptian --- coping strategies --- STAI --- BDI-II --- avoidance-oriented coping --- college students --- coping styles --- emotion-oriented coping --- life satisfaction --- perceived stress --- task-oriented coping --- satisfaction with life --- fear of COVID-19 --- elderly population --- parental distress --- executive functioning --- multiple sclerosis --- elder abuse --- risk factors --- postural control --- balance --- detraining --- falls --- inactivity --- ageing --- type of personality --- type D personality --- TMD --- orofacial pain --- masticatory --- COVID-19 emergency --- preventive measures --- Chile --- nursing --- psychological discomfort --- pregnant --- n/a --- adverse childhood experiences --- ACEs --- psychological flexibility --- wellbeing --- help-seeking --- family physician --- primary care --- healthy lifestyle --- pandemic COVID-19 --- neurodegenerative diseases --- public health strategies --- healthy lifestyle behaviors --- telerehabilitation --- Autism Spectrum Disorder --- parenting stress --- depressive symptoms --- economic crisis --- virus' transmission --- Hashimoto's disease


Book
The Impact of the COVID-19 Emergency on the Quality of Life of the General Population
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

COVID-19 is a pandemic that has forced many states to declare restrictive measures in order to prevent its wider spread. These measures are necessary to protect the health of adults, children, and people with disabilities.Long quarantine periods could cause an increase in anxiety crises, fear of contagion, and post-traumatic stress disorder (frustration, boredom, isolation, fear, insomnia, and difficulty concentrating).Post-traumatic stress disorder (PTSD) is a condition that can develop in subjects who have witnessed a traumatic, catastrophic, or violent event, or who have become aware of a traumatic experience that happened to a loved one.In fact, from current cases, it emerges that the prevalence of PTSD varies from 1% to 9% in the general population and can reach 50%–60% in subgroups of subjects exposed to traumas considered particularly serious. PTSD develops as a consequence of one or more physical or psychological traumatic events, such as exposure to natural disasters such as earthquakes, fires, floods, hurricanes, tsunamis; wars, torture, death threats; road accidents, robbery, air accidents; diseases with unfavorable prognoses; complicated or traumatic mourning; physical and sexual abuse and abuse during childhood; or victimization and discrimination based on gender, sexual orientation, or gender identity. It can also develop following changes in lifestyle habits caused by the COVID-19 epidemic.Thank you for reading the manuscripts in this Special Issue, "The Impact of the COVID-19 Emergency on the Quality of Life of the General Population".

Keywords

COVID-19 --- pandemic --- anxiety --- psychopathological symptomatology --- mood --- post-traumatic stress disorder (PTSD) --- emergency --- autism --- children --- diagnosis --- intervention --- parents --- remote --- depression --- EPDS --- pregnancy --- SARS-CoV-2 --- psychiatry --- infectious disease --- healthcare personnel --- psychopathological symptoms --- mental health --- neurological --- psychological --- inflammation --- COVID-19 pandemic --- ERT --- lysosomal storage disease --- psychological impact --- antibodies --- serological test --- SLE --- GAD-7 --- PHQ-9 --- ISI --- quarantine --- burnout --- health professionals --- stress --- prevention --- virus’ transmission --- fear of contagion --- breathing difficulty --- healthy adolescents --- emotion awareness --- state anxiety --- risk perception of COVID-19 --- meaning-based resources --- psychological well-being --- resilience --- emergency services --- adversity --- lockdown --- personality --- public health --- coping --- psychological distress --- public --- Ireland --- physical activity (PA) --- undergraduates --- university students --- chronic pain --- triggers --- well-being --- occupational balance --- social distancing --- home confinement --- coronavirus --- interpersonal violence --- sense of coherence --- Covid-19 --- psychiatric patients --- worry --- risk perception --- mental illness --- attitudes --- knowledge --- practices --- spirituality --- Indonesia --- quality of life --- stress disorder --- living together --- emotional bond --- coronavirus disease --- psychological health --- general population --- somatic symptoms --- Quality of Life --- gender differences --- WHOQOL-BREF --- health --- health psychology --- Italy --- public mental health --- physical activity --- Kosovo --- restrictions --- 15D --- vaccination --- community pharmacists --- DASS-21 --- emotional distress --- chronic diseases --- Hashimoto’s disease --- frailty --- telemedicine --- gerontechnology --- wearable sensors --- shelter-in-place measures --- resting heart rate --- sleep duration --- activity pattern --- consultation --- comprehensive health care --- pandemics --- dentist --- fear --- insomnia --- preventive behavior --- fear of Covid-19 --- Athens Insomnia Scale --- psychological coping --- students --- general self-reported health --- gender --- cross-national study --- primary healthcare --- access to healthcare --- treatment effectiveness --- perceived control over time --- COVID-19 fear --- vitality --- emotion --- general anxiety disorder-7 (GAD-7) --- older adults --- short health anxiety inventory (SHAI) --- state-trait anxiety inventory (STAI) --- stomatognathic system --- COVID-19 confinement --- prospective memory --- working memory --- psychological wellbeing --- emotions --- Egyptian --- coping strategies --- STAI --- BDI-II --- avoidance-oriented coping --- college students --- coping styles --- emotion-oriented coping --- life satisfaction --- perceived stress --- task-oriented coping --- satisfaction with life --- fear of COVID-19 --- elderly population --- parental distress --- executive functioning --- multiple sclerosis --- elder abuse --- risk factors --- postural control --- balance --- detraining --- falls --- inactivity --- ageing --- type of personality --- type D personality --- TMD --- orofacial pain --- masticatory --- COVID-19 emergency --- preventive measures --- Chile --- nursing --- psychological discomfort --- pregnant --- n/a --- adverse childhood experiences --- ACEs --- psychological flexibility --- wellbeing --- help-seeking --- family physician --- primary care --- healthy lifestyle --- pandemic COVID-19 --- neurodegenerative diseases --- public health strategies --- healthy lifestyle behaviors --- telerehabilitation --- Autism Spectrum Disorder --- parenting stress --- depressive symptoms --- economic crisis --- virus' transmission --- Hashimoto's disease


Book
The Impact of the COVID-19 Emergency on the Quality of Life of the General Population
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

Loading...
Export citation

Choose an application

Bookmark

Abstract

COVID-19 is a pandemic that has forced many states to declare restrictive measures in order to prevent its wider spread. These measures are necessary to protect the health of adults, children, and people with disabilities.Long quarantine periods could cause an increase in anxiety crises, fear of contagion, and post-traumatic stress disorder (frustration, boredom, isolation, fear, insomnia, and difficulty concentrating).Post-traumatic stress disorder (PTSD) is a condition that can develop in subjects who have witnessed a traumatic, catastrophic, or violent event, or who have become aware of a traumatic experience that happened to a loved one.In fact, from current cases, it emerges that the prevalence of PTSD varies from 1% to 9% in the general population and can reach 50%–60% in subgroups of subjects exposed to traumas considered particularly serious. PTSD develops as a consequence of one or more physical or psychological traumatic events, such as exposure to natural disasters such as earthquakes, fires, floods, hurricanes, tsunamis; wars, torture, death threats; road accidents, robbery, air accidents; diseases with unfavorable prognoses; complicated or traumatic mourning; physical and sexual abuse and abuse during childhood; or victimization and discrimination based on gender, sexual orientation, or gender identity. It can also develop following changes in lifestyle habits caused by the COVID-19 epidemic.Thank you for reading the manuscripts in this Special Issue, "The Impact of the COVID-19 Emergency on the Quality of Life of the General Population".

Keywords

Technology: general issues --- History of engineering & technology --- COVID-19 --- pandemic --- anxiety --- psychopathological symptomatology --- mood --- post-traumatic stress disorder (PTSD) --- emergency --- autism --- children --- diagnosis --- intervention --- parents --- remote --- depression --- EPDS --- pregnancy --- SARS-CoV-2 --- psychiatry --- infectious disease --- healthcare personnel --- psychopathological symptoms --- mental health --- neurological --- psychological --- inflammation --- COVID-19 pandemic --- ERT --- lysosomal storage disease --- psychological impact --- antibodies --- serological test --- SLE --- GAD-7 --- PHQ-9 --- ISI --- quarantine --- burnout --- health professionals --- stress --- prevention --- virus' transmission --- fear of contagion --- breathing difficulty --- healthy adolescents --- emotion awareness --- state anxiety --- risk perception of COVID-19 --- meaning-based resources --- psychological well-being --- resilience --- emergency services --- adversity --- lockdown --- personality --- public health --- coping --- psychological distress --- public --- Ireland --- physical activity (PA) --- undergraduates --- university students --- chronic pain --- triggers --- well-being --- occupational balance --- social distancing --- home confinement --- coronavirus --- interpersonal violence --- sense of coherence --- Covid-19 --- psychiatric patients --- worry --- risk perception --- mental illness --- attitudes --- knowledge --- practices --- spirituality --- Indonesia --- quality of life --- stress disorder --- living together --- emotional bond --- coronavirus disease --- psychological health --- general population --- somatic symptoms --- Quality of Life --- gender differences --- WHOQOL-BREF --- health --- health psychology --- Italy --- public mental health --- physical activity --- Kosovo --- restrictions --- 15D --- vaccination --- community pharmacists --- DASS-21 --- emotional distress --- chronic diseases --- Hashimoto's disease --- frailty --- telemedicine --- gerontechnology --- wearable sensors --- shelter-in-place measures --- resting heart rate --- sleep duration --- activity pattern --- consultation --- comprehensive health care --- pandemics --- dentist --- fear --- insomnia --- preventive behavior --- fear of Covid-19 --- Athens Insomnia Scale --- psychological coping --- students --- general self-reported health --- gender --- cross-national study --- primary healthcare --- access to healthcare --- treatment effectiveness --- perceived control over time --- COVID-19 fear --- vitality --- emotion --- general anxiety disorder-7 (GAD-7) --- older adults --- short health anxiety inventory (SHAI) --- state-trait anxiety inventory (STAI) --- stomatognathic system --- COVID-19 confinement --- prospective memory --- working memory --- psychological wellbeing --- emotions --- Egyptian --- coping strategies --- STAI --- BDI-II --- avoidance-oriented coping --- college students --- coping styles --- emotion-oriented coping --- life satisfaction --- perceived stress --- task-oriented coping --- satisfaction with life --- fear of COVID-19 --- elderly population --- parental distress --- executive functioning --- multiple sclerosis --- elder abuse --- risk factors --- postural control --- balance --- detraining --- falls --- inactivity --- ageing --- type of personality --- type D personality --- TMD --- orofacial pain --- masticatory --- COVID-19 emergency --- preventive measures --- Chile --- nursing --- psychological discomfort --- pregnant --- adverse childhood experiences --- ACEs --- psychological flexibility --- wellbeing --- help-seeking --- family physician --- primary care --- healthy lifestyle --- pandemic COVID-19 --- neurodegenerative diseases --- public health strategies --- healthy lifestyle behaviors --- telerehabilitation --- Autism Spectrum Disorder --- parenting stress --- depressive symptoms --- economic crisis --- COVID-19 --- pandemic --- anxiety --- psychopathological symptomatology --- mood --- post-traumatic stress disorder (PTSD) --- emergency --- autism --- children --- diagnosis --- intervention --- parents --- remote --- depression --- EPDS --- pregnancy --- SARS-CoV-2 --- psychiatry --- infectious disease --- healthcare personnel --- psychopathological symptoms --- mental health --- neurological --- psychological --- inflammation --- COVID-19 pandemic --- ERT --- lysosomal storage disease --- psychological impact --- antibodies --- serological test --- SLE --- GAD-7 --- PHQ-9 --- ISI --- quarantine --- burnout --- health professionals --- stress --- prevention --- virus' transmission --- fear of contagion --- breathing difficulty --- healthy adolescents --- emotion awareness --- state anxiety --- risk perception of COVID-19 --- meaning-based resources --- psychological well-being --- resilience --- emergency services --- adversity --- lockdown --- personality --- public health --- coping --- psychological distress --- public --- Ireland --- physical activity (PA) --- undergraduates --- university students --- chronic pain --- triggers --- well-being --- occupational balance --- social distancing --- home confinement --- coronavirus --- interpersonal violence --- sense of coherence --- Covid-19 --- psychiatric patients --- worry --- risk perception --- mental illness --- attitudes --- knowledge --- practices --- spirituality --- Indonesia --- quality of life --- stress disorder --- living together --- emotional bond --- coronavirus disease --- psychological health --- general population --- somatic symptoms --- Quality of Life --- gender differences --- WHOQOL-BREF --- health --- health psychology --- Italy --- public mental health --- physical activity --- Kosovo --- restrictions --- 15D --- vaccination --- community pharmacists --- DASS-21 --- emotional distress --- chronic diseases --- Hashimoto's disease --- frailty --- telemedicine --- gerontechnology --- wearable sensors --- shelter-in-place measures --- resting heart rate --- sleep duration --- activity pattern --- consultation --- comprehensive health care --- pandemics --- dentist --- fear --- insomnia --- preventive behavior --- fear of Covid-19 --- Athens Insomnia Scale --- psychological coping --- students --- general self-reported health --- gender --- cross-national study --- primary healthcare --- access to healthcare --- treatment effectiveness --- perceived control over time --- COVID-19 fear --- vitality --- emotion --- general anxiety disorder-7 (GAD-7) --- older adults --- short health anxiety inventory (SHAI) --- state-trait anxiety inventory (STAI) --- stomatognathic system --- COVID-19 confinement --- prospective memory --- working memory --- psychological wellbeing --- emotions --- Egyptian --- coping strategies --- STAI --- BDI-II --- avoidance-oriented coping --- college students --- coping styles --- emotion-oriented coping --- life satisfaction --- perceived stress --- task-oriented coping --- satisfaction with life --- fear of COVID-19 --- elderly population --- parental distress --- executive functioning --- multiple sclerosis --- elder abuse --- risk factors --- postural control --- balance --- detraining --- falls --- inactivity --- ageing --- type of personality --- type D personality --- TMD --- orofacial pain --- masticatory --- COVID-19 emergency --- preventive measures --- Chile --- nursing --- psychological discomfort --- pregnant --- adverse childhood experiences --- ACEs --- psychological flexibility --- wellbeing --- help-seeking --- family physician --- primary care --- healthy lifestyle --- pandemic COVID-19 --- neurodegenerative diseases --- public health strategies --- healthy lifestyle behaviors --- telerehabilitation --- Autism Spectrum Disorder --- parenting stress --- depressive symptoms --- economic crisis

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