A5035262400- Immunodeficiency and Autoimmune Disorders
- Asthma and respiratory diseases
- Immune Cell Function and Interaction
- Congenital Heart Disease Studies
- Congenital heart defects research
- Allergic Rhinitis and Sensitization
- Genetic factors in colorectal cancer
- Adolescent and Pediatric Healthcare
- Acute Lymphoblastic Leukemia research
- Cystic Fibrosis Research Advances
- Mast cells and histamine
- Herpesvirus Infections and Treatments
- Blood disorders and treatments
- Pneumocystis jirovecii pneumonia detection and treatment
- Genomics and Rare Diseases
- Pediatric health and respiratory diseases
- interferon and immune responses
- Parvovirus B19 Infection Studies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Cytomegalovirus and herpesvirus research
- Inflammasome and immune disorders
- Eosinophilic Esophagitis
- Peptidase Inhibition and Analysis
- Coronary Artery Anomalies
Children's Mercy Hospital
2016-2025
University of Missouri–Kansas City
2015-2025
Mercy Hospital
2015-2024
Sisters of Mercy Health System
2023
Pacific Biosciences (United States)
2021
Wayne State University
2008
Tata Memorial Hospital
1994-1996
An inherited disorder makes WAVEs The WAVE regulatory complex (WRC) is a multiunit that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for WRC has not yet been established. Cook et al. studied five patients from four unrelated families who harbor missense variants of gene encoding component HEM1. These presented with recurrent infections and poor antibody along enhanced allergic autoimmune disorders. HEM1 was...
PurposeThis study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.MethodsExtensive of 960 families with suspected genetic disorders included short-read exome sequencing genome (srGS); PacBio HiFi long-read (HiFi-GS); variant calling single nucleotide variants (SNV), structural (SV), repeat variants; machine-learning prioritization. Structured phenotypes, prioritized variants, pedigrees were...
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal and breakage, often leading to immunodeficiency, growth retardation increased risk malignancy.We performed exome sequencing on girl suspected chromosome syndrome that manifested as retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency pancytopenia, myelodysplasia. She was homozygous for previously reported splice variant, c.4444 + 3A > G in the POLE1...
Objective Children with 22q11.2 deletion syndrome (22q11.2DS) present complex medical challenges and often are followed by multiple specialists. Healthcare for these patients may be influenced demographic socioeconomic factors. This study's aim is to identify factors correlated no-show clinic visits children. Design Retrospective cohort study Setting Tertiary care hospital Participants Pediatric a diagnosis of 22q11.2DS. Patients without appointment attendance or data were excluded....
Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We investigated male infant neonatal skin/eye/mouth (SEM) HSV1 who had complete recovery after acyclovir but developed encephalitis at 1 year age. Immune work up showed an anergic peripheral blood monocyte cytokine (PBMC) response TLR3 stimulation no other TLRs. Exome sequencing identified rare missense...
Histamine is an important mediator in the pathophysiology of asthma. We have previously reported that HRH1 differentially expressed among those with asthma compared to without Single histamine-related genes also been associated aimed evaluate known single nucleotide polymorphisms (SNPs) along histamine biotransformation and response pathway, determine their association mRNA expression.We enrolled children adults (n = 93) with/without who met inclusion/exclusion criteria. Genotyping was...
AbstractThe we of empirical antibiotic combinations in the treatmnt febrile neutropenic patients has decreased complication-related mortality cancer patients. We have analyzed retrospectively 499 consecutive episodes fever 432 with acute lymphoblastic leukemia over α 5-year period. compared various used empirically our study. Of episodes, 92% were neutropenic. The most common site clinical documentation was lung. pathogen isolated setting Pseudomonas aeuroginosa (27.27%). overall response...
Previous multicenter carotid endarterectomy (CEA) studies had screening criteria for patient comorbidities and very few blacks. We assessed the hypothesis that CEA results from two urban hospitals would approximate those of previous trials.A retrospective chart review was completed at procedures done in 2003 2004. Demographic information past medical history recorded. In hospital perioperative complications (stroke or myocardial infarction [MI]) were noted. calculated an expected stroke rate...
Objectives Hearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS), a few prior studies reporting 32%–78% prevalence; mild–moderate conductive hearing has been reported most commonly. Overall, however, there remains paucity of data regarding the frequency, type, age, and progression 22q11.2DS. Methods Retrospective chart review was completed, combined for two large 22q centers. Inclusion criteria were 22q11.2DS documented audiogram. Data extracted included...
Background: Multiple animal antigens, spores and pollens were collected identified from the Kuwaiti atmosphere.The role for these antigens in mediating allergic rhinitis residents needs to be evaluated.Objective: To investigate causes (both indoors outdoors) of residents.Method: This is a retrospective study all positive skin tests that we obtained our Allergy clinic Mubarak Alkabeer Hospital Kuwait, during period between May 2013 December 2015, patients who presented with symptoms and/or...
Ectodermal dysplasias (ED) are a group of diseases that affects the development or function teeth, hair, nails and exocrine sebaceous glands. One type ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC Hay-Wells syndrome), is an autosomal dominant disease characterized by presence skin erosions affecting palms, soles scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, palate, craniofacial abnormalities ectodermal defects such as...
While previous studies have suggested a high prevalence of sleep disorders in children with 22q deletion syndrome (22qDS), they were limited by potential selection bias. In the current investigation, we assessed characteristics 100 consecutive presenting to 22qDS multidisciplinary clinic.
RB Morse, M Hall, ES Fieldston. JAMA. 2011;306(13):1454–1460 To evaluate longitudinal trends in compliance with the Joint Commission Children’s Asthma Care (CAC) process measure set and to determine possible associations between CAC outcomes. Sample of randomly selected pediatric inpatients (aged 2–17 years) a principal discharge diagnosis asthma. Administrative data from 30 US hospitals were reviewed. A standardized collection tool measured following: (1) if children received relievers …
Abstract Immunodeficiency often coincides with immune hyperresponsiveness such as autoimmunity, lymphoproliferation, or atopy, but the molecular basis of this paradox is typically unknown. We describe four families immunodeficiency coupled cytokine overproduction, hemophagocytic lymphohistocytosis, and autoimmunity. discovered loss-of-function variants in gene NCKAP1L , encoding hematopoietic-specific Hem1 protein. Three mutations cause protein WAVE regulatory complex (WRC) loss, thereby...