A5066979976- Pharmaceutical studies and practices
- Cystic Fibrosis Research Advances
- Inflammatory Bowel Disease
- Pediatric Hepatobiliary Diseases and Treatments
- Intestinal Malrotation and Obstruction Disorders
- Child Nutrition and Feeding Issues
- Helicobacter pylori-related gastroenterology studies
- Microscopic Colitis
- Metabolism and Genetic Disorders
- Gastroesophageal reflux and treatments
- Gallbladder and Bile Duct Disorders
- Neonatal Respiratory Health Research
- Adolescent and Pediatric Healthcare
- Genomics and Rare Diseases
- Infant Nutrition and Health
- Eosinophilic Esophagitis
- Congenital Anomalies and Fetal Surgery
- Lysosomal Storage Disorders Research
- Child and Adolescent Health
- Gastrointestinal disorders and treatments
- Liver Disease Diagnosis and Treatment
- Health Systems, Economic Evaluations, Quality of Life
- Immunodeficiency and Autoimmune Disorders
- Carbohydrate Chemistry and Synthesis
- Pediatric Pain Management Techniques
Queen Mary University of London
2022
University of Maryland, Baltimore
2022
Janssen (Belgium)
2022
Amicus Therapeutics (United States)
2018-2021
United States Food and Drug Administration
2012-2020
Amicus Therapeutics (United Kingdom)
2017-2020
Center for Drug Evaluation and Research
2012-2016
University of Florida
2016
Columbus Oncology and Hematology Associates
2016
Reckitt Benckiser (United States)
2016
We have produced continuous cell lines using retroviral transduction of SV40 large T antigen into human intrahepatic biliary epithelial (IBE) cells from three different normal individuals. These IBE grow in a hormone-supplemented medium the presence NIH/3T3 fibroblast coculture. maintain their appearance and are positive for biliary-specific markers cytokeratins 7 19 gamma-glutamyl transpeptidase while being negative hepatocyte albumin asialoglycoprotein receptor. To evaluate ion transport...
Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these have no treatments, incurable, a devastating impact on patients their families. Regulatory standards for drug approval rare must ensure that receive safe efficacious treatments. However, regulatory bodies shown flexibility in applying to development diseases, given the unique challenges hinder efficient effective traditional clinical trials, including low patient numbers, limited understanding...
Pancreatic enzyme replacement therapy (PERT) improves nutritional status and growth in patients with cystic fibrosis (CF) pancreatic insufficiency (PI). The current recommendation for infants young children, who are not able to swallow the whole capsule, is open capsule mix beads a spoon some applesauce; however, efficacy safety data of this approach currently lacking. aim study was assess efficacy, palatability (ease swallowing), 4 dose levels pancrelipase microtablets (Pancrease MT)...
WE have previously characterized the expression of cystic fibrosis transmembrane conductance regulator protein (CFTR) gene, mRNA and in rat brain with reverse transcriptase (RT)-PCR amplification, situ hybridization immunocytochemistry. We now report that CFTR is expressed human anterior hypothalamus, an area involved regulation appetite, resting energy expenditure sexual differentiation. Expression neurons localized to this region may elucidate pathogenesis other non-pulmonary...
We have previously shown that activity of a Cl- channel is required for acidification clathrin-coated vesicles by the coated vesicle (H+)-ATPase (Arai, H., Pink, S. and Forgac, M. (1989) Biochemistry 28, 3075-3082). demonstrate modulated phosphorylation. conductance was measured in reconstituted preparation membrane proteins using Cl(-)-sensitive fluorescence probe, 6-methoxy-N-(3-sulfopropyl)quinolinium. Treatment membranes with alkaline phosphatase resulted 25 +/- 5% decrease activity. A...
Abstract Data silos are proliferating while research and development activity explode following genetic immunological advances for many clinically described disorders with previously unknown etiologies. The latter event has inspired optimism in the patient, clinical, communities that disease-specific treatments on way. However, we fear tendency of various stakeholders to balkanize databases proprietary formats, driven by current economic academic incentives, will inevitably fragment...
We have demonstrated the expression of cystic fibrosis transmembrane conductance regulator (CFTR) gene, mRNA, and protein within rat human brains, in areas regulating sexual differentiation function. found that GT1–7, a gonadotropin-releasing hormone (GnRH)-secreting hypothalamic neuronal cell line, expresses CFTR cAMP-dependent 36 Cl efflux. A linear 7-pS − conductance, which is stimulated by ATP cAMP analogs inhibited glibenclamide, consistent with activity, has been identified GT1–7...
In previous studies we have characterized the expression of cystic fibrosis transmembrane conductance regulator (CFTR) protein in clathrin-coated vesicles derived from bovine brain and neurons rat brain. this study further CFTR mRNA with reverse transcriptase polymerase chain reaction amplification (RT-PCR), situ hybridization, immunocytochemistry. The discrete areas brain, including hypothalamus, thalamus, amygdaloid nuclei, which are involved regulation appetite resting energy expenditure,...
Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat an orally-administered small molecule approved to treat the symptoms of in patients with amenable mutations. We evaluated minimal clinically important differences (MCID) diarrhea based on corresponding domain patient-reported Gastrointestinal Symptom Rating Scale (GSRS) and mutations (N = 50) treated migalastat 150 mg every other day or placebo during phase 3 FACETS trial (NCT00925301)....
To describe bone status in children with Alagille syndrome (AGS) and healthy control adjusted for age, gender height (HT), to identify dietary intake AGS-related factors associated status.Prepubertal AGS controls comparable age ethnicity were evaluated. Subjects > or =4 years of prepubertal had whole body (WB) and/or lumbar spine (LS) dual energy X-ray absorptiometry (DXA) scans acceptable quality. Anthropometric (weight, HT), diet AGS-specific data (e.g., coefficient fat absorption, labs,...
Discovery and development of new drugs for the treatment inflammatory bowel disease (IBD) has intensified significantly within past decade. However, numerous hurdles affect pace efficiency with which are developed. On March 20, 2019 International Organization Study Inflammatory Bowel Disease (IOIBD) held a meeting entitled "Defining Endpoints Biomarkers in Disease: Moving Needle Through Clinical Trial Design" Miami, Florida. In addition to IOIBD members IBD specialists, representatives from...
We sought data on the validity, reliability, responsiveness, and feasibility of coefficient fat absorption (CFA) as a measure pancreatic enzyme replacement therapy (PERT) efficacy in people with cystic fibrosis (pwCF) reviewed literature for alternative measures.We searched PubMed Medical Subject Heading key words fibrosis, absorption, CFA, fecal imbalance; historical articles; citations bibliographies.The lower greater its variability; thus, it is less variable healthy individuals who have...
A relationship between autism and gastrointestinal (GI) immune dysregulation has been postulated based on incidence of GI complaints as well macroscopically observed lymphonodular hyperplasia microscopically determined enterocolitis in pediatric patients with autism. To evaluate immunity, we quantitatively assessed levels proinflammatory cytokines, interleukin (IL)-6, IL-8, IL-1beta, produced by intestinal biopsies children pervasive developmental disorders.Fifteen patients, six disorders...