SCI时时刷

search
+
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide rep...
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal
Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties h...
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease
Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe...
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil
Rare diseases include 6,000–8,000 different conditions, over 70% of them having a genetic cause. Most cases have ear...
Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research
Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research
Prenatal screening (PNS) for Sickle Cell Disease (SCD) offers a potential avenue for informed reproductive choices and the...
Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina
Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina
Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the ...
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the...
Newborn screening in Brazil: realities and challenges
Newborn screening in Brazil: realities and challenges
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early...
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, aut...
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining...
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for r...
Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children
Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children
This study investigates the factors contributing to the recurrence of severe genetic conditions in multiple children of th...
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside ...
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in th...
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study
Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing persona...
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet avai...
Knowledge and perception of medical students on genetics in the genomic era
Knowledge and perception of medical students on genetics in the genomic era
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education f...
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for sever...
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study
Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is import...
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the e...
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU)
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metaboli...
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availabili...
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressiv...
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving pu...
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a si...
Building a National Policy for Rare Disease in Brazil
Building a National Policy for Rare Disease in Brazil
Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not onl...
Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process
Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare....
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants
The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is ...
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer
Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of s...
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS)....
阅读更多
format_indent_increase