Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.70093
Abstract: More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the same advancements… read more here.
Keywords: screening diagnosis; lysosomal disorders; disorders biochemical; diagnosis lysosomal ... See more keywords
Gestational Diabetes Mellitus Screening and Diagnosis.
Sign Up to like & getrecommendations! Published in 2020 at "Advances in experimental medicine and biology"
DOI: 10.1007/5584_2020_512
Abstract: An ideal screening test for gestational diabetes should be capable of identifying not only women with the disease but also the women with a high risk of developing gestational diabetes mellitus (GDM). Screening and diagnosis… read more here.
Keywords: gestational diabetes; risk; diagnosis; mellitus screening ... See more keywords
A multinational consensus on dysphagia in Parkinson's disease: screening, diagnosis and prognostic value
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10739-8
Abstract: Parkinson’s disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening,… read more here.
Keywords: prognostic value; consensus; dysphagia; parkinson disease ... See more keywords
Screening/diagnosis of pediatric endocrine disorders through the artificial intelligence model in different language settings
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-024-05527-1
Abstract: This study is aimed at examining the impact of ChatGPT on pediatric endocrine and metabolic conditions, particularly in the areas of screening and diagnosis, in both Chinese and English modes. A 40-question questionnaire covering the… read more here.
Keywords: different language; screening diagnosis; language; model ... See more keywords
VitalSign: Screening, Diagnosis, and Treatment of Depression for Adolescents Presenting to Pediatric Primary and Specialty Care Settings.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American Academy of Child and Adolescent Psychiatry"
DOI: 10.1016/j.jaac.2019.01.019
Abstract: Depression in youth is a critical public health concern. Nearly 13% of adolescents have experienced a depressive episode within the last year,1 and suicide is the second leading cause of death among 15- to 24-year-olds.2… read more here.
Keywords: depression; diagnosis treatment; pediatric primary; care ... See more keywords
To what extent do decision aids for prenatal screening and diagnosis address involvement of partners in decision-making? - An environmental scan.
Sign Up to like & getrecommendations! Published in 2021 at "Patient education and counseling"
DOI: 10.1016/j.pec.2021.04.009
Abstract: OBJECTIVE Numerous decision aids (DAs) have been developed to inform pregnant people about prenatal screening as the decision whether or not to accept the prenatal screening offer may be difficult. Currently, little is known about… read more here.
Keywords: decision; prenatal screening; partner; decision making ... See more keywords
Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Medicine"
DOI: 10.1080/07853890.2024.2402071
Abstract: Abstract Background This study aimed to evaluate the efficiency of noninvasive prenatal screening (NIPS) technology in screening for microdeletions in the 7q11.23 region. Methods 19,607 pregnant women underwent NIPS in our hospital. Maternal peripheral cell-free… read more here.
Keywords: williams syndrome; prenatal screening; screening diagnosis; noninvasive prenatal ... See more keywords
Screening and diagnosis of inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Critical reviews in clinical laboratory sciences"
DOI: 10.1080/10408363.2022.2049199
Abstract: Inherited platelet disorders are important conditions that often manifest with bleeding. These disorders have heterogeneous underlying pathologies. Some are syndromic disorders with non-blood phenotypic features, and others are associated with an increased predisposition to developing… read more here.
Keywords: platelet disorders; inherited platelet; platelet function; screening diagnosis ... See more keywords
Advances in tests for colorectal cancer screening and diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "Expert review of molecular diagnostics"
DOI: 10.1080/14737159.2022.2065197
Abstract: INTRODUCTION Colorectal cancer (CRC) is the second leading cause of cancer-related deaths globally. Nonetheless, with early detection of CRC or its precancerous lesions, mortality and CRC incidence can be reduced. Although colonoscopy is currently the… read more here.
Keywords: diagnosis; cancer; non invasive; screening diagnosis ... See more keywords
Osteoporosis Prevention, Screening, and Diagnosis: ACOG Clinical Practice Guideline No. 1.
Sign Up to like & getrecommendations! Published in 2021 at "Obstetrics and gynecology"
DOI: 10.1097/aog.0000000000004514
Abstract: PURPOSE To provide updated evidence-based recommendations for the prevention, screening, and diagnosis of postmenopausal osteoporosis. TARGET POPULATION Postmenopausal patients without identified risk factors for fracture, low bone mineral density, or secondary osteoporosis related to medication… read more here.
Keywords: prevention; practice; clinical practice; screening diagnosis ... See more keywords
Exploring the Stories of Parents’ Experiences With Infant Hearing-Loss Screening and Diagnosis in the United States
Sign Up to like & getrecommendations! Published in 2022 at "Ear and Hearing"
DOI: 10.1097/aud.0000000000001294
Abstract: Objectives: For the past 20 years, birthing hospitals in the United States have required newborns to undergo a hearing-loss screening before leaving the hospital. Since the initial newborn hearing screening mandates, there has been much… read more here.
Keywords: loss screening; screening diagnosis; hearing loss; loss ... See more keywords