Boston hospital sues Saudi prince over $3.5 million in unpaid bills for child with rare disease

A Saudi prince who promised to foot the bill for a 2-year-old patient's treatment is now being sued for millions by Boston Children's Hospital.
Source: - Health - Category: Consumer Health News Source Type: news

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Purpose: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum. Methods: Report of five patients with an initial diagnosis of atypical rod–cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation. Results: Visual acuity ranged from
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Marco Vacante1, Antonio Biondi1, Francesco Basile1, Roberto Ciuni1, Salvatore Luca1, Salomone Di Saverio2, Carola Buscemi3, Enzo Saretto Dante Vicari3 and Antonio Maria Borzì3* 1Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania, Italy 2Cambridge Colorectal Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom 3Department of Clinical and Experimental Medicine, Specialization School in Geriatrics, University of Catania, Catania, Italy There is a high prevalence of hypothyroidism in the elderly population, mainly among women. The mo...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
In this study, we proposed a collaborative filtering system enriched with natural language processing and semantic techniques to assist rare disease diagnosis based on phenotypic characterization. Specifically, we leveraged four similarity measurements with two neighborhood algorithms on 2010-2015 Mayo Clinic unstructured large patient cohort and evaluated different approaches. Preliminary results demonstrated that the use of collaborative filtering with phenotypic information is able to stratify patients with relatively similar rare diseases. PMID: 29854225 [PubMed - indexed for MEDLINE]
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research
Contributors : Agnieszka Ługowska ; Roksana M Iwanicka-Nowicka ; Rafał T Płoski ; Marta K Koblowska ; Anna Fogtman ; Paweł WłodarskiSeries Type : Expression profiling by arrayOrganism : Homo sapiensInherited metabolic diseases belong to the group of rare diseases (so called ‘orphan diseases’) whose incidence is less than 1: 5 000 live births. Among these diseases the lysosomal storage diseases (LSD) are also distinguished, which are caused by disorders in the lysosomal system resulting from the mutations in the genes coding for lysosomal hydrolases, cofactors, enzy mes involved in the posttranslational pro...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research
(Karolinska Institutet) An international study led from Karolinska Institutet in Sweden provides new insights into the regulatory T cells' role in protecting against autoimmune disease. By mapping the targets of the immune system in patients with the rare disease IPEX, they were able to show that regulatory T cells control immunotolerance in the gut. The results are published in the Journal of Allergy and Clinical Immunology.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Authors: Sohn KH, Nam S, Joo J, Kwon YJ, Yim JJ Abstract BACKGROUND: Patient-centered care (PCC) and integrative care approach are widely advocated. However, their implementation usually requires an extended consultation time. Despite significant advances in medical diagnosis and treatment, no studies have examined consultation time and patient centeredness in Korea. METHODS: We conducted a "15-Minute Consultation" for first-time patients in outpatient clinics of 13 departments. A control group was selected from the same physicians' first-time patients, adjusting for age and gender. A total of 275 pat...
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
CONCLUSIONS: Symptoma is the first and only viable solution in this market. Large-scale studies should be conducted to further validate these results as well as to assess the actual practical performance of the symptom checkers and their ability to diagnose rare diseases. PMID: 30993374 [PubMed - as supplied by publisher]
Source: HNO - Category: ENT & OMF Tags: HNO Source Type: research
Eosinophilic esophagitis (EoE) is a chronic, allergy/immune-mediated disease diagnosed in patients with symptoms of esophageal dysfunction, an esophageal eosinophilic infiltrate, and without potential competing causes of eosinophilia.1 While EoE is classified as a rare disease with
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Review Source Type: research
Abstract Severe congenital neutropenia caused by ELANE gene mutation is a rare disease. To date, only four families were reported with mosaicism. Here we examined the morphology and function of granulocytes isolated from two patients and their mosaic fathers. Analysis of granulocytes isolated from the fathers revealed no genetic mutations. DNA extracted from fractionated peripheral blood mononuclear cells (PBMCs) and fingernails obtained from both fathers did harbor the mutation, suggesting mosaicism. Granulocytes isolated from the patients displayed significantly weaker ionomycin-induced intracellular reactive ox...
Source: Clinical Immunology - Category: Allergy & Immunology Authors: Tags: Clin Immunol Source Type: research
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