Disease: Scott syndrome
- <em>PRDM16</em> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
- 9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome
- A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
- A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature
- A New Global Definition of Acute Respiratory Distress Syndrome
- A novel missense variant of <em>FGD1</em> disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
- A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
- A Systematic Review of Short-Term Outcomes of Leadless Pacemaker Implantation After Transvenous Lead Removal of Infected Cardiac Implantable Electronic Device
- A technology-enabled multi-disciplinary team-based care model for the management of Long COVID and other fatiguing illnesses within a federally qualified health center: protocol for a two-arm, single-blind, pragmatic, quality improvement professional clus
- Aarskog-scott syndrome (AAS): a case report
- An Individual Patient-Level Meta-Analysis of Ischemic Versus Nonischemic Cardiomyopathy and Trajectory of Decongestion in Patients With Acute Decompensated Heart Failure
- Après Moi, Le Deluge: The identification and management of flood syndrome in the emergency department
- Artificial Intelligence and Heart Failure: A State-of-the-Art Review
- Association of SARS-CoV-2 infection and persistence with long COVID
- Associations Among Antiphospholipid Antibody Types, Isotypes, and Titers: An AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Study
- Atypical Ebola virus disease in a rhesus macaque
- Bedtime versus morning use of antihypertensives in frail continuing care residents (BedMed-Frail): protocol for a prospective, randomised, open-label, blinded end-point pragmatic trial
- Below the knee, let it be: Management of calf DVT in hospitalized trauma patients
- Burden of long COVID among adults experiencing sheltered homelessness: a longitudinal cohort study in King County, WA between September 2020-April 2022
- Cardiac Transcriptome Remodeling and Impaired Bioenergetics in Single-Ventricle Congenital Heart Disease
- Caregivers' concerns and supports needed to care for adults with Down syndrome
- Case Report: Congenital tuberculosis in a premature infant requiring extracorporeal membrane oxygenation
- Cellular and molecular biomarkers of long COVID: a scoping review
- Central regulation of stress-evoked peripheral immune responses
- Cerebral revascularization surgery reduces cerebrovascular events in children with sickle cell disease and moyamoya syndrome: Results of the stroke in sickle cell revascularization surgery retrospective study
- Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
- Chai Disease Mimicking Autoimmune Lymphoproliferative Syndrome
- Changing Severity and Epidemiology of Adults Hospitalized With Coronavirus Disease 2019 (COVID-19) in the United States After Introduction of COVID-19 Vaccines, March 2021-August 2022
- Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI
- Closer to FREEDOM From Uncertainty
- Community incidence patterns drive the risk of SARS-CoV-2 outbreaks and alter intervention impacts in a high-risk institutional setting
- Comprehensive functional characterisation of a novel ANO6 variant in a new patient with Scott Syndrome
- Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome
- Concurrence of hyperinsulinemia and hyperuricemia significantly augmented all-cause mortality
- Cone beam CT-based adaptive intensity modulated proton therapy assessment using automated planning for head-and-neck cancer
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Deep learning MRI-only synthetic-CT generation for pelvis, brain and head and neck cancers
- Defining Strategies of Modulation of Antiplatelet Therapy in Patients With Coronary Artery Disease: A Consensus Document from the Academic Research Consortium
- Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
- Differential characteristics of bipolar I and II disorders: a retrospective, cross-sectional evaluation of clinical features, illness course, and response to treatment
- Dominant negative variants in <em>IKZF2</em> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
- Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
- Dopamine antagonists and topical capsaicin for cannabis hyperemesis syndrome (CHS) in the emergency department: a systematic review of direct evidence
- Effect of COVID-19 on the incidence of postintubation laryngeal lesions
- European practice patterns for antiplatelet management in NSTE-ACS patients: Results from the REal-world ADoption survey focus on Acute antiPlatelet Treatment (READAPT) survey
- Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis
- FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects
- Frailty and heart failure: State-of-the-art review
- Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
- Geographic Distribution of Suspected Alpha-gal Syndrome Cases - United States, January 2017-December 2022
- Health Care Provider Knowledge Regarding Alpha-gal Syndrome - United States, March-May 2022
- iBehavior - A Smartphone-Based Ecological Momentary Assessment Tool for the Assessment of Behavior Change in Neurodevelopmental Disorders
- Impaired alveolar macrophage 11β-hydroxysteroid dehydrogenase type 1 reductase activity contributes to increased pulmonary inflammation and mortality in sepsis-related ARDS
- Implementation of high-sensitivity troponin with a rapid diagnostic algorithm reduces emergency department length of stay for discharged patients
- Longitudinal Variations in Antibody Responses against SARS-CoV-2 Spike Epitopes upon Serial Vaccinations
- Medicaid Enrollment and Service Use Among Adults With Down Syndrome
- Mediterranean diet and psychological well-being intervention to reverse metabolic syndrome in Chile (CHILEMED trial)
- Molecular patterns identify distinct subclasses of myeloid neoplasia
- Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
- Natural history of long-COVID in a nationwide, population cohort study
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
- Novel precision medicine approaches and treatment strategies in hematological malignancies
- Optimizing Dietary Patterns and Lifestyle to Reduce Atherosclerotic Cardiovascular Risk Among South Asian Individuals
- Outcomes in Retinal Detachment Repair and Laser Prophylaxis for Syndromes with Optically Empty Vitreous
- P2Y<sub>12</sub> Inhibitor Monotherapy Combined With Colchicine Following PCI in ACS Patients: The MACT Pilot Study
- P2Y12 inhibitor monotherapy versus dual antiplatelet therapy in patients with acute coronary syndromes undergoing coronary stenting: rationale and design of the NEOMINDSET Trial
- Patient phenotype profiling in heart failure with preserved ejection fraction to guide therapeutic decision making. A scientific statement of the Heart Failure Association, the European Heart Rhythm Association of the European Society of Cardiology, and t
- Patterns of care and outcomes of risk reducing surgery in women with pathogenic variants in non-BRCA and Lynch syndrome ovarian cancer susceptibility genes
- Performance of a prehospital HEART score in patients with possible myocardial infarction: a prospective evaluation
- Phenobarbital for Alcohol Withdrawal Management in the Emergency Department: A Systematic Review of Direct Evidence for the SAEM GRACE Initiative
- Placental syndromes and maternal cardiovascular health
- Predictors of successful treatment of respiratory distress with aerosolized calfactant
- Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report
- Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression
- Relationships between self-perceived and clinical expression of pain and function differ based on the underlying pathology of the human hip
- Results of a 12-Month Randomized Controlled Trial Testing the Efficacy of the Diabetes Prevention Program Group Lifestyle Balance (DPP-GLB) for People Post Stroke (GLB-CVA)
- Role of sex and gender in concussion outcome differences among patients presenting to the emergency department: a systematic review
- Safe to Sleep in Tennessee: A Statewide Quality Improvement Initiative
- Scott's syndrome and pregnancy: about a case
- Sex-based differences in metabolic protection by the ANP genetic variant rs5068 in the general population
- Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants
- Streptococcal pyomyositis in asplenia and underlying connective tissue disease
- Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID
- Switching from Dual Antiplatelet Therapy with Aspirin Plus a P2Y12 Inhibitor to Dual Pathway Inhibition with Aspirin Plus Vascular-Dose Rivaroxaban: The Switching Anti-Platelet and Anti-Coagulant Therapy (SWAP-AC) Study
- Terlipressin versus Midodrine plus Octreotide for Hepatorenal Syndrome-Acute Kidney Injury: A Propensity Score-Matched Comparison
- The dermatologic and histologic spectrum of hypereosinophilic syndrome
- The Effect of Terlipressin on Renal Replacement Therapy in Patients with Hepatorenal Syndrome
- The Interplay between Obstructive Sleep Apnea, Chronic Obstructive Pulmonary Disease, and Congestive Heart Failure: Time to Collectively Refer to Them as Triple Overlap Syndrome?
- The Role of the Gut Microbiome in Bipolar Disorder and its Common Medical Comorbidities
- Therapeutic plasma exchange in the management of stiff person syndrome spectrum disorders: a case series and review of the literature
- Tocilizumab Associated With Survival in Patients Hospitalized for COVID-19 Acute Respiratory Distress Syndrome and Low Urine Output
- TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms
- Transforming Growth Factor-β-Activated Kinase 1 (TAK1) Mediates Chronic Pain and Cytokine Production in Mouse Models of Inflammatory, Neuropathic, and Primary Pain
- Transmission of SARS-CoV-2 among recruits in a US Army training environment: a brief report
- Transplantation Referral Patterns for Patients with Newly Diagnosed Higher-Risk Myelodysplastic Syndromes and Acute Myeloid Leukemia at Academic and Community Sites in the Connect® Myeloid Disease Registry: Potential Barriers to Care
- Trends in Neonatal Opioid Withdrawal Syndrome and Opioid Exposure Diagnoses Among Infants With Private Health Insurance, 2016-2021: Introduction of the P04.14 ICD-10-CM Code
- Ultrathin bioresorbable polymer sirolimus-eluting stents in US patients undergoing coronary revascularization: 1-Year outcomes from the BIOFLOW VII trial
- Unexpected bleeding with platelet phosphatidylserine exposure defect: new kindred motivates rethinking Scott syndrome
- Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications