von Willebrand factor antigen, von Willebrand factor propeptide and ADAMTS13 activity in TIA or ischaemic stroke patients changing antiplatelet therapy.

Data are limited on the impact of commencing antiplatelet therapy on von Willebrand Factor Antigen (VWF:Ag) or von Willebrand Factor propeptide (VWFpp) levels and ADAMTS13 activity, and their relationship with platelet reactivity following TIA/ischaemic stroke. In this pilot, observational study, VWF:Ag and VWFpp levels and ADAMTS13 activity were quantified in 48 patients ≤4 weeks of TIA/ischaemic stroke (baseline), and 14 days (14d) and 90 days (90d) after commencing aspirin, clopidogrel or aspirin+dipyridamole. Platelet reactivity was assessed at moderately-high shear stress (PFA-100® Collagen-Epinephrine / Collagen-ADP / INNOVANCE PFA P2Y assays), and low shear stress (VerifyNow® Aspirin / P2Y12, and Multiplate® Aspirin / ADP assays).

Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection.

Objectives: We tested the hypothesis that aberrant expression of Hsa21-encoded interferon genes in peripheral blood immune cells would correlate to immune cell dysfunction in children with Down syndrome (DS).

Study Design: We performed flow cytometry to quantify peripheral blood leukocyte subtypes and measured their ability to migrate and phagocytose. In matched samples, we measured gene expression levels for constituents of interferon signaling pathways.

Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome.

Pulmonary disease, lower respiratory tract infection, and pneumonia are the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but whether pulmonary diagnoses in children with DS are common and occur independently of cardiac disease and pulmonary hypertension (PH) is unknown. Cardiopulmonary phenotypes were examined in a cohort of 1248 children with DS. Aptamer-based proteomic analysis of blood was performed in a subset (n = 120) of these children.

IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome.

Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by stunted growth, cognitive impairment, and increased risk of diverse neurological conditions. Although signs of lifelong neurodegeneration are well documented in DS, the mechanisms underlying this phenotype await elucidation. Here we report a multi-omics analysis of neurodegeneration and neuroinflammation biomarkers, plasma proteomics, and immune profiling in a diverse cohort of more than 400 research participants.

Blood counts in children with Down syndrome.

Background: Children with Down syndrome (DS) are more likely to have hematologic and immunologic abnormalities compared to their typically developing peers, but normal ranges have not been defined. The goal of this study was to create references for complete blood counts (CBCs) in patients with DS.

Methods: A retrospective investigation of 355 (male = 196, 55.

Reach Out and Read Implementation in a Pediatric Down Syndrome Clinic.

Introduction: To examine the first Reach Out and Read (ROR) program in a pediatric Down syndrome (DS) clinic in the United States and the literacy behaviors of young children with DS and their families.

Method: This is a large cohort (n = 747) review of children with DS participating in ROR and a family literacy survey (n = 209). Data from the electronic medical records were included.

Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension.

Objective: To evaluate the performance of pulmonary hypertension (PH) biomarkers in children with Down syndrome, an independent risk factor for PH, in whom biomarker performance may differ compared with other populations.

Study Design: Serum endostatin, interleukin (IL)-1 receptor 1 (ST2), galectin-3, N-terminal pro hormone B-natriuretic peptide (NT-proBNP), IL-6, and hepatoma-derived growth factor (HDGF) were measured in subjects with Down syndrome and PH (n = 29), subjects with Down syndrome and resolved PH (n = 13), subjects with Down syndrome without PH (n = 49), and subjects without Down syndrome with World Symposium on Pulmonary Hypertension group I pulmonary arterial hypertension (no Down syndrome PH group; n = 173). Each biomarker was assessed to discriminate PH in Down syndrome.

Airwave oscillometry to measure lung function in children with Down syndrome.

Background: Children with Down syndrome are at risk for significant pulmonary co-morbidities, including recurrent respiratory infections, dysphagia, obstructive sleep apnea, and pulmonary vascular disease. Because the gold standard metric of lung function, spirometry, may not be feasible in children with intellectual disabilities, we sought to assess the feasibility of both airwave oscillometry and spirometry in children with Down syndrome.

Methods: Thirty-four children with Down syndrome aged 5-17 years were recruited.

Airway obstruction and inflammation on combined bronchoscopy in children with Down syndrome.

Objective: To characterize the upper and lower airway findings in children with Down syndrome and chronic respiratory symptoms, based on evaluation by flexible bronchoscopy (FB) with bronchoalveolar lavage and microlaryngoscopy with bronchoscopy (MLB).

Study Design: A retrospective review was conducted of children with Down syndrome aged 1 month to 17 years, who underwent both FB and MLB within a 1-year timeframe between 2010 and 2019 at Children's Hospital Colorado. Anatomic airway findings are reported as frequencies within the cohort.

Validation of the Childhood Dysphagia Management Scale (CDMS): An Impact Scale for determining medical home for dysphagia.

Background: The results and recommendations from instrumental assessments of swallowing do not, by themselves, provide guidance regarding the type of medical management that might be needed for the pediatric patient with dysphagia. The aim of this study is to evaluate the reliability and validity of the Childhood Dysphagia Management Scale (CDMS), a clinical scale developed to estimate the impact of dysphagia and determine the need for a multidisciplinary medical home to manage dysphagia.

Methods: This was a prospective observational study implemented in three phases to evaluate validity and reliability of the CDMS.

Pro-inflammatory Stimulation of Monocytes by ANCA Is Linked to Changes in Cellular Metabolism.

Clinical and experimental data suggest that pathogenesis in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is driven by ANCA-mediated activation of neutrophils and monocytes. While the role of neutrophils has been extensively investigated, the function of monocytes remains relatively understudied. We have previously demonstrated that stimulation of monocytes with anti-myeloperoxidase (MPO), but not anti-proteinase-3 (PR3), antibodies results in production of the pro-inflammatory cytokine IL-1β.

von Willebrand Factor Antigen, von Willebrand Factor Propeptide, and ADAMTS13 in Carotid Stenosis and Their Relationship with Cerebral Microemboli.

Background:  The relationship between von Willebrand factor antigen (VWF:Ag), VWF propeptide (VWFpp), VWFpp/VWF:Ag ratio, ADAMTS13 activity, and microembolic signal (MES) status in carotid stenosis is unknown.

Methods:  This prospective, multicenter study simultaneously assessed plasma VWF:Ag levels, VWFpp levels and ADAMTS13 activity, and their relationship with MES in asymptomatic versus symptomatic moderate-to-severe (≥50-99%) carotid stenosis patients. One-hour transcranial Doppler ultrasound of the middle cerebral arteries classified patients as MES+ve or MES-ve.

Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome.

Purpose: Atlantoaxial instability (AAI) has a higher incidence rate among individuals with Down syndrome (DS) than the non-DS population. In 2011, the American Academy of Pediatrics (AAP) updated its AAI screening guidelines for children with DS from radiographic screening to radiographs only if there are clinical symptoms suggestive of cervical spine pathology. An assessment of whether this alteration has been associated with an increase in AAI-associated spinal cord injury has not been undertaken.

Behavioral Audiology Procedures in Children With Down Syndrome.

Purpose Normative data regarding behavioral audiologic testing procedures are based upon the general population and often do not apply to children with Down syndrome (DS). Testing children with DS can be challenging, and outcomes may be unreliable due to their different cognitive demands and delays. The aim of this study was to assess optimal audiologic testing procedures for specific age groups of children with DS.

Keratoconus and corneal morphology in patients with Down syndrome at a pediatric hospital.

Purpose: To evaluate patients with Down syndrome for keratoconus and corneal abnormalities using Scheimpflug imaging (Pentacam HR) in a pediatric setting.

Methods: The Pentacam scans of patients with Down syndrome seen at Children's Hospital Colorado Ophthalmology Department were reviewed retrospectively, and the following data were collected: keratometry values, pachymetry values, components of the Belin ABCD Grading System, the Belin/Ambrosio enhanced ectasia display D value, and topometric indices, including ISV, IVA, and KI. Subjective interpretation was used to classify scans as normal, abnormal, keratoconus suspect, and definite keratoconus.

Routine Screening for Celiac Disease in Children With Down Syndrome Improves Case Finding.

Objectives: Children with Down syndrome have an estimated 6-fold increased risk of developing celiac disease in the United States compared with the general population, yet the determination to screen for celiac disease in this population is not agreed upon. The objectives of this study are to assess the prevalence of celiac disease in children with Down syndrome in our center and compare features from this population identified clinically and through screening.

Methods: This is a retrospective chart review of 1317 children with Down syndrome who received treatment at a single institution from 2011 to 2017.

Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome.

Objectives: Children with Down syndrome (DS) have a high risk of dysphagia and the pediatric pulmonologist may be involved in diagnosis and management. The objective of this study is to evaluate the associations between age, dysphagia, and medical comorbidities in young children with DS. We hypothesized that swallow study findings are more likely to change in younger infants and that medical comorbidities may be associated with dysphagia.

EXPRESS: Angiogenic Profile Identifies Pulmonary Hypertension in Children with Down Syndrome.

Past studies have shown that lung angiogenic signaling may be abnormal in children with Down syndrome, but whether differences in circulating angiogenic proteins can identify pulmonary hypertension in children with Down syndrome is unknown. A prospective study of 78 children from birth to 21 years of age was conducted to evaluate clinical data, echocardiograms, and cardiac catheterizations. Four patient populations were enrolled, including children with Down syndrome who have pulmonary hypertension (Down syndrome + pulmonary hypertension, n = 12); control children without Down syndrome who have pulmonary hypertension (C + pulmonary hypertension, n = 15); children with Down syndrome without a known diagnosis of pulmonary hypertension (Down syndrome − pulmonary hypertension, n = 26); and children without Down syndrome or a known diagnosis of pulmonary hypertension (C − pulmonary hypertension, n = 25).

Does Tonsillectomy Increase Obesity Risk in Children with Down Syndrome?

Objectives: To examine weight changes relative to surgical success in children with Down syndrome and obstructive sleep apnea (OSA).

Study Design: Retrospective chart review of children with Down syndrome undergoing tonsillectomy from 2005 to 2016 for OSA at a tertiary care children's hospital. Only patients with pre-and postoperative polysomnogram within 6 months of tonsillectomy were included.

Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.

To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Mean age at diagnosis was 9.

A schedule of gross motor development for children with Down syndrome.

Background: Gross motor milestones for children who develop typically have been well established; however, norms for children with Down syndrome (DS) are uncertain. Without a developmental schedule for the gross motor development of children with DS, medical professionals are limited in their ability to identify if the development of a particular child with DS is delayed in comparison with his or her peers (i.e.

Alkylating histone deacetylase inhibitors may have therapeutic value in experimental myeloperoxidase-ANCA vasculitis.

Current therapies for treating antineutrophil cytoplasm autoantibody (ANCA)-associated vasculitis include cyclophosphamide and corticosteroids. Unfortunately, these agents are associated with severe adverse effects, despite inducing remission in most patients. Histone deacetylase inhibitors are effective in rodent models of inflammation and act synergistically with many pharmacological agents, including alkylating agents like cyclophosphamide.