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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
(2022-06)
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ...
Association of JAK/STAT genetic variants with cutaneous melanoma
(2022-08-02)
Background: The Janus-activated kinase (JAK)-signal transducer and activator of transcription (STAT) signaling pathway regulates cutaneous melanoma (CM) development and progression. The JAK1, JAK2, and STAT3 proteins are ...
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
(2022-10)
Purpose
Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, ...
COVAD survey 2 long-term outcomes: unmet need and protocol
(2022-12)
Vaccine hesitancy is considered a major barrier to achieving herd immunity against COVID-19. While multiple alternative and synergistic approaches including heterologous vaccination, booster doses, and antiviral drugs have ...
Endovascular Treatment of Acute Ischemic Stroke With the Penumbra System in Routine Practice: COMPLETE Registry Results
(2022-03)
Background and Purpose:
The purpose of the COMPLETE (International Acute Ischemic Stroke Registry With the Penumbra System Aspiration Including the 3D Revascularization Device) registry was to evaluate the generalizability ...
Diabetic Retinopathy Predicts Risk of Alzheimer’s Disease: A Danish Registry-Based Nationwide Cohort Study
(2022)
Background:
Retinal neurodegeneration is evident in early diabetic retinopathy (DR) which may be associated with other neurodegenerative diseases like Alzheimer's disease (AD).
Objective:
To investigate diabetes and DR ...
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
(2022-07-25)
Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Other ...
Defining a Standard Set of Health Outcomes for Patients With Squamous Cell Carcinoma of the Head and Neck in Spain
(2022-01-24)
Purpose: A systematic, standardized collection of health outcomes during patient treatment and follow-up, relevant from the perspective of all stakeholders, is a crucial step toward effective and efficient disease management. ...
Opportunistic Community Screening of Chronic Chagas Disease Using a Rapid Diagnosis Test in Pharmacies in Barcelona (Catalonia, Spain): Study Protocol and Pilot Phase Results
(2022-11-30)
Objectives: This study aimed to report the protocol and results from the pilot phase of an opportunistic CP-based CD screening program in Barcelona, Spain.
Methods: Three strategies according to recruitment approach were ...
Co Treatment With Biologic Agents and Immunotherapy in the Setting of irAEs of Difficult Management
(2022-06-30)
In recent years, immunotherapy has become an important pillar of cancer treatment, with high response rates regardless of tumor histology or baseline mutations, sometime in patients without any alternative of treatment. ...