Belgium's UCB to buy Ra Pharmaceuticals in $2.1 billion cash deal

UCB has agreed to acquire U.S.-based Ra Pharmaceuticals for $2.1 billion, both companies reported on Thursday, in a deal that will enable the Belgian drugmaker to offer new treatment opportunities for several rare diseases in neurology and immunology.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news

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We report the case of a 17-year-old patient with recurrent hemorrhagic pericardial effusion, who was diagnosed with primary pericardial fibrosarcoma. However, multiple radiological examinations, including CT and [18F] FDG/PET-CT, suggested the presence of fluid and no sign of tumor. Actually, when a patient presents with recurrent hemorrhagic pericardial effusions, pericardial tumors must be taken into account as part of the differential diagnosis.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
CONCLUSIONS Our study described rare diseases in Chinese patients and our results enrich the phenotype spectrum of related diseases, as well as mutation spectrum of related genes, which might be significant for clinical disease diagnosis and prenatal diagnosis. PMID: 31603145 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the ...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
Authors: Colbaugh R, Glass K, Rudolf C, Tremblay Volv Global Lausanne Switzerland M Abstract There is increasing interest in developing prediction models capable of identifying rare disease patients in population-scale databases such as electronic health records (EHRs). Deriving these models is challenging for many reasons, perhaps the most important being the limited number of patients with 'gold standard' confirmed diagnoses from which to learn. This paper presents a novel cascade learning methodology which induces accurate prediction models from noisy 'silver standard' labeled data - patients provisionally label...
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research
ConclusionMLL remains to be underdiagnosed. Due to the obesity epidemic, clinicians must be aware of this once rare disease. The role of concurrent bariatric surgery with surgical resection of MLL warrants further studies.
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
CONCLUSIONS: Mammography and ultrasound remain the leading modalities in breast imaging among males for diagnostic workup of palpable mass, with gynecomastia being the predominant diagnosis. However, presentation with palpable mass was also associated with malignancy. Despite a notable MBC rate in our cohort, the likelihood of cancer is low in young patients and in cases of gynecomastia. PMID: 31599508 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
We report a case of emphysematous esophagitis and gastritis with complete affectation of the gastric and esophageal wall at diagnosis. Two surgical interventions were performed due to gastric perforation that was treated in both cases with primary closure. The post-operative recovery was satisfactory. Despite the large emphysematous esophago-gastritis affectation at diagnosis and the presence of gastric perforation, it is safe to perform the same management principles as with emphysematous gastritis. This should be as conservative as possible in case a surgical procedure is required. PMID: 31599641 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
ConclusionsPOEM can be a new option for the treatment of esophageal movement disorders, but large sample, multi-center, long-term study reports are needed, and it promotes the development of NOTES technology.
Source: Esophagus - Category: Gastroenterology Source Type: research
Abstract Relapsing Linear Acantholytic Dermatosis (RLAD) is a rare disease that manifests as recurring episodes of crusted and vesicular lesions distributed in a Blaschkoid pattern with histology resembling Hailey-Hailey or Darier's disease. RLAD is hypothesized to be a mosaic form of a known acantholytic disorder, but this hypothesis has lacked genetic conformation. To determine the genetic abnormalities causing RLAD, we performed exome sequencing of affected tissue and blood in a single subject. Exome sequencing of an punch biopsy revealed a c.238A>T, p.(Lys80*) variant in ATP2C1 found in 26% of the reads fro...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
tan Network biology has the capability to integrate, represent, interpret, and model complex biological systems by collectively accommodating biological omics data, biological interactions and associations, graph theory, statistical measures, and visualizations. Biological networks have recently been shown to be very useful for studies that decipher biological mechanisms and disease etiologies and for studies that predict therapeutic responses, at both the molecular and system levels. In this review, we briefly summarize the general framework of biological network studies, including data resources, network construction...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
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