"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical immunology"
DOI: 10.1016/j.clim.2021.108796
Abstract: INTRODUCTION Inherited phagocyte defects are one of the subgroups of primary immunodeficiency diseases (PIDs) with various clinical manifestations. As oral manifestations are common at the early ages, oral practitioners can have a special role in… read more here.
Keywords: oral manifestations; systematic review; manifestations patients; phagocyte defects ... See more keywords
Syncope in patients with inherited arrhythmias
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Arrhythmia"
DOI: 10.1016/j.joa.2017.07.007
Abstract: Syncope, a common symptom of cerebral ischemia often shows a multifactorial etiopathogenesis. Although inherited arrhythmias causing syncope is uncommon, such an occurrence could be a warning sign preceding cardiac arrest. Long QT syndrome (LQTS) is… read more here.
Keywords: inherited arrhythmia; syncope; inherited arrhythmias; syncope patients ... See more keywords
Perceptions of genetic variant reclassification in patients with inherited cardiac disease
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0377-6
Abstract: Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of… read more here.
Keywords: reclassification; cardiac disease; variant reclassification; inherited cardiac ... See more keywords
Risk‐based management of dental procedures in patients with inherited bleeding disorders: Development of a Dental Bleeding Risk Assessment and Treatment Tool (DeBRATT)
Sign Up to like & getrecommendations! Published in 2017 at "Haemophilia"
DOI: 10.1111/hae.13122
Abstract: Successful outcomes in dental management for patients with inherited bleeding disorders require close collaboration between haematology teams and dentists. read more here.
Keywords: risk; inherited bleeding; bleeding disorders; management ... See more keywords
Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper
Sign Up to like & getrecommendations! Published in 2019 at "Haemophilia"
DOI: 10.1111/hae.13637
Abstract: This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had… read more here.
Keywords: inherited bleeding; bleeding disorders; paper; good practice ... See more keywords
Illness Perceptions, Psychiatric Manifestations, and Quality of Life in Patients with Inherited Retinal Dystrophies
Sign Up to like & getrecommendations! Published in 2017 at "Seminars in Ophthalmology"
DOI: 10.3109/08820538.2015.1118136
Abstract: ABSTRACT Purpose: We aimed to assess psychiatric manifestations, health-related quality of life (HRQoL), and associated illness perceptions in patients with inherited retinal dystrophies (IRD). Methods: In 48 IRD patients, we assessed a wide range of… read more here.
Keywords: illness perceptions; retinal dystrophies; psychiatric manifestations; inherited retinal ... See more keywords
Surgical management of the aortic arch in patients with inherited aortopathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.974190
Abstract: Surgical management of the aortic root and ascending aorta has seen an evolution over the past 50 years. Despite the widely available guidelines for management of the aortic root and ascending aorta, including in those… read more here.
Keywords: management aortic; arch patients; management; aortic arch ... See more keywords
The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Nutrition"
DOI: 10.3389/fnut.2021.637868
Abstract: The clinical management of patients with inherited metabolic disorders (IMDs) includes medical nutrition therapy (MNT) by a registered dietitian (RD). We utilized an online quantitative and qualitative survey to characterize the practices of RDs treating… read more here.
Keywords: medical nutrition; telemedicine; inherited metabolic; nutrition ... See more keywords
Genetic Diagnosis for 64 Patients with Inherited Retinal Disease
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes14010074
Abstract: The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an… read more here.
Keywords: retinal disease; inherited retinal; genetic diagnosis; diagnosis patients ... See more keywords