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https://www.readbyqxmd.com/read/29441496/differences-in-incremental-cost-effectiveness-ratios-for-common-versus-rare-conditions-a-case-from-oncology
#1
Kavisha Jayasundara, Murray Krahn, Muhammad Mamdani, Jeffrey S Hoch, Paul Grootendorst
BACKGROUND: Incremental cost-effectiveness ratios (ICERs) are used to assess the value for money of new drugs. Many believe that ICERs for drugs that treat rare diseases are much higher than those of common drugs. Our objective was to compare the proportion of ICERs that are cost effective for rare and common cancers. METHODS: We used the Tufts Medical Center Cost-Effectiveness Analysis (CEA) Registry to identify cost-effectiveness studies of pharmaceutical interventions for cancers...
September 2017: PharmacoEconomics Open
https://www.readbyqxmd.com/read/29436403/chronic-interstitial-lung-disease-in-children
#2
REVIEW
Matthias Griese
Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network...
March 31, 2018: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/29429051/cilostazol-mediated-nurr1-and-autophagy-enhancement-neuroprotective-activity-in-rat-rotenone-pd-model
#3
Shireen A Hedya, Marwa M Safar, Ashraf K Bahgat
Nuclear receptor related 1 (Nurr1) orphan receptor has emerged as a promising contender in ameliorating Parkinson's disease; thus, finding a suitable activator of Nurr1 receptor is an attracting target for treating PD. Cilostazol, a phosphodiesterase-3 inhibitor, recently showed a favorable neuroprotective activity in multiple devastating central disorders, yet the possible antiparkinsonian activity of the drug has not been fully elucidated. Thus, the aim of this study is to explore the neuroprotective effect of cilostazol in rotenone-induced PD model in rats...
February 10, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29422993/mesenteric-injection-of-adipose-derived-mesenchymal-stem-cells-relieves-experimentally-induced-colitis-in-rats-by-regulating-th17-treg-cell-balance
#4
Zheng-Wei Fu, Zhen-Yu Zhang, Hai-Yan Ge
Efficient delivery routes are critical for the effectiveness of adipose-derived mesenchymal stem cells (ADMSCs) in treating inflammatory bowel disease (IBD). Conventional ADMSC delivery routes include local, intravenous and intraperitoneal injection. Whether mesenteric injection has potential in IBD treatment remains unknown. In the present study, we investigated the therapeutic effects of mesenteric injection of ADMSCs in a trinitrobenzene sulfonic acid-induced rat IBD model and explored whether this treatment affected T helper 17 (Th17)/regulatory T (Treg) cell ratio...
2018: American Journal of Translational Research
https://www.readbyqxmd.com/read/29419336/case-report-of-four-siblings-in-southeast-turkey-with-a-novel-rab3gap2-splice-site-mutation-warburg-micro-syndrome-or-martsolf-syndrome
#5
Evren Gumus
BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones...
February 8, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29417937/advances-in-lipid-lowering-therapy-through-gene-silencing-technologies
#6
REVIEW
Børge G Nordestgaard, Stephen J Nicholls, Anne Langsted, Kausik K Ray, Anne Tybjærg-Hansen
New treatment opportunities are emerging in the field of lipid-lowering therapy through gene-silencing approaches. Both antisense oligonucleotide inhibition and small interfering RNA technology aim to degrade gene mRNA transcripts to reduce protein production and plasma lipoprotein levels. Elevated levels of LDL, remnant lipoproteins, and lipoprotein(a) all cause cardiovascular disease, whereas elevated levels of triglyceride-rich lipoproteins in some patients can cause acute pancreatitis. The levels of each of these lipoproteins can be reduced using gene-silencing therapies by targeting proteins that have an important role in lipoprotein production or removal (for example, the protein products of ANGPTL3, APOB, APOC3, LPA, and PCSK9)...
February 8, 2018: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29412693/bronchiectasis-phenotyping-an-orphan-disease
#7
Gregory Tino
No abstract text is available yet for this article.
February 7, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29410461/in-silico-clinical-trials-for-pediatric-orphan-diseases
#8
A Carlier, A Vasilevich, M Marechal, J de Boer, L Geris
To date poor treatment options are available for patients with congenital pseudarthrosis of the tibia (CPT), a pediatric orphan disease. In this study we have performed an in silico clinical trial on 200 virtual subjects, generated from a previously established model of murine bone regeneration, to tackle the challenges associated with the small, pediatric patient population. Each virtual subject was simulated to receive no treatment and bone morphogenetic protein (BMP) treatment. We have shown that the degree of severity of CPT is significantly reduced with BMP treatment, although the effect is highly subject-specific...
February 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29410318/diacerein-orphan-drug-development-for-epidermolysis-bullosa-simplex-a-phase-2-3-randomized-placebo-controlled-double-blind-clinical-trial
#9
Verena Wally, Alain Hovnanian, Juliette Ly, Hana Buckova, Victoria Brunner, Thomas Lettner, Michael Ablinger, Thomas K Felder, Peter Hofbauer, Martin Wolkersdorfer, Florian B Lagler, Wolfgang Hitzl, Martin Laimer, Sophie Kitzmüller, Anja Diem, Johann W Bauer
BACKGROUND: EBS is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed. OBJECTIVE: Compare the impact of 1% diacerein cream vs placebo in reducing blister number in EBS. METHODS: In a randomized, placebo-controlled, phase 2/3 trial we used a 1% diacerein topical formulation to treat defined skin areas in 17 patients. In a 2-period cross-over trial, patients were randomized to either placebo or diacerein for 4-week treatment and a 3-month follow-up in period 1...
February 1, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29409050/shp-deficiency-increases-inflammatory-liver-injury-through-cxcl2-driven-neutrophil-recruitment-in-mice
#10
Jung-Ran Noh, Yong-Hoon Kim, Don-Kyu Kim, Jung Hwan Hwang, Kyoung-Shim Kim, Dong-Hee Choi, Seon-Jin Lee, Hee Gu Lee, Tae Geol Lee, Hong-Lei Weng, Steven Dooley, Hueng-Sik Choi, Chul-Ho Lee
Although detailed pathophysiological mechanisms of fulminant hepatitis remain elusive, immune cell recruitment with excessive cytokine production is a well-recognized hallmark of the disease. We determined the function of orphan nuclear receptor small heterodimer partner (SHP) in concanavalin A (ConA)-induced hepatitis model. Male C57BL/6J mice were injected intravenously with either a lethal dose (25 mg/kg) or a sub-lethal dose (15 mg/kg) of ConA. For the C-X-C motif chemokine ligand (CXCL) 2 neutralization study, mice were intravenously administered anti-mouse CXCL2 antibody (100 μg/mouse)...
February 2, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29402834/endothelial-gpr124-exaggerates-the-pathogenesis-of-atherosclerosis-by-activating-inflammation
#11
Dong-Mei Gong, Yan-Li Zhang, Dan-Yang Chen, Ling-Juan Hong, Feng Han, Qi-Bing Liu, Jian-Jun Jiang, Ying-Mei Lu
BACKGROUND/AIMS: Endothelial cell dysfunction is the principal pathological process underlying atherosclerotic cardiovascular disease. G protein-coupled receptor 124 (GPR124), an orphan receptor in the adhesion GPCR subfamily, promotes angiogenesis in the brain. In the present study, we explored the role of endothelial GPR124 in the development and progression of atherosclerosis in adult mice. METHODS: Using tetracycline-inducible transgenic systems, we generated mice expressing GPR124 specifically under control of the Tie-2 promoter...
January 25, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29399125/identification-of-potentially-relevant-genes-for-myocardial-infarction-using-rna-sequencing-data-analysis
#12
Qiang Zhao, Ke Wu, Nannan Li, Zhengmei Li, Fenglin Jin
Myocardial infarction (MI) is a heart disease with high morbidity and mortality rates, thus it is critical to identify genes that serve roles during its pathogenesis. The objective of the present study was to identify potentially relevant genes during the progression of the disease. Blood samples from patients with MI and normal controls (n=3/group) were obtained, the RNA was extracted and cDNA libraries were established. RNA sequencing (RNA-seq) was performed on a HiSeq 2500 platform and fragments per kilobase of exon per million fragments mapped was utilized to calculate the gene expression value following preprocessing of the RNA-seq data...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29394260/healthcare-resource-use-and-costs-of-managing-children-and-adults-with-lysosomal-acid-lipase-deficiency-at-a-tertiary-referral-centre-in-the-united-kingdom
#13
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
OBJECTIVE: To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK. METHODS: A retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients' pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated...
2018: PloS One
https://www.readbyqxmd.com/read/29393499/small-heterodimer-partner-deficiency-exacerbates-binge-drinking%C3%A2-induced-liver-injury-via-modulation-of-natural-killer-t-cell-and-neutrophil-infiltration
#14
Min-Jeong Go, Jung-Ran Noh, Jung Hwan Hwang, Kyoung-Shim Kim, Dong-Hee Choi, Jong-Soo Lee, Yong-Hoon Kim, Chul-Ho Lee
Binge drinking among alcohol consumers is a common occurrence, and may result in the development of numerous diseases, including liver disorders. It has previously been reported that natural killer T (NKT) cells induce alcohol‑associated liver injury by promoting neutrophil infiltration. In the present study, the role of the orphan nuclear receptor small heterodimer partner (SHP), which is encoded by the NR0B2 gene, in acute binge drinking‑induced liver injury was investigated. SHP‑knockout (KO) and wild‑type (WT) control mice were intragastrically administered single doses of alcohol...
January 26, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29390908/towards-a-better-understanding-of-the-cannabinoid-related-orphan-receptors-gpr3-gpr6-and-gpr12
#15
Paula Morales, Israa Isawi, Patricia H Reggio
GPR3, GPR6, and GPR12 are three orphan receptors that belong to the Class A family of G-protein-coupled receptors (GPCRs). These GPCRs share over 60% of sequence similarity among them. Because of their close phylogenetic relationship, GPR3, GPR6, and GPR12 share a high percentage of homology with other lipid receptors such as the lysophospholipid and the cannabinoid receptors. On the basis of sequence similarities at key structural motifs, these orphan receptors have been related to the cannabinoid family. However, further experimental data are required to confirm this association...
February 1, 2018: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/29389822/management-of-intestinal-failure-in-middle-income-countries-for-children-and-adults
#16
Gabriel E Gondolesi, Francisco Pattín, Hamed Nikkoupur
PURPOSE OF REVIEW: Intestinal failure is a life-threatening medical condition that remains as a rare or orphan disease in most countries. The prevalence of intestinal failure and the therapeutic options available in middle-income countries (MIC) remain unclear. We aim to provide an overview on the current differences in management of intestinal failure patients in MIC from Latin America and Asia. RECENT FINDINGS: In order to fulfil the challenge, and after facing the difficulties of going over a topic with scarce available data, from countries with an extreme variety of social and economic problems, which are closely related to the treatment of intestinal failure patients, we have used both the existing publications and personal surveys to draft this document...
January 30, 2018: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/29387812/crystal-structure-analysis-of-human-serum-albumin-complexed-with-sodium-4-phenylbutyrate
#17
Akito Kawai, Keishi Yamasaki, Taisuke Enokida, Shuichi Miyamoto, Masaki Otagiri
Sodium 4-phenylbutyrate (PB) is an orphan drug for the treatment of urea cycle disorders. It also inhibits the development of endoplasmic reticulum stress, the action of histone deacetylases and as a regulator of the hepatocanalicular transporter. PB is generally considered to have the potential for use in the treatment of the diseases such as cancer, neurodegenerative diseases and metabolic diseases. In a previous study, we reported that PB is primarily bound to human serum albumin (HSA) in plasma and its binding site is drug site 2...
March 2018: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/29387187/effect-of-butylphthalide-intervention-on-experimental-autoimmune-myositis-in-guinea-pigs
#18
Juan Chen, Jingyang Wang, Jiyan Zhang, Chuanqiang Pu
Idiopathic inflammatory myopathies are a group of rare muscular diseases that are characterized by acute, subacute or chronic proximal and symmetric muscle weakness, muscle fiber necrosis and infiltration of inflammatory cells, particularly activated CD8+ cytotoxic T cells and phagocytes. 3-n-butylphthalide (NBP) protects mitochondria and reduces the inflammatory response in multiple disease models. In myositis, it has remained elusive whether NBP can protect muscle cells from muscle fiber injury. Experimental autoimmune myositis (EAM) was induced in a total of 40 guinea pigs by myosin immunization...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29387177/management-of-primary-sj%C3%A3-gren-s-syndrome-recent-developments-and-new-classification-criteria
#19
REVIEW
Nicoletta Del Papa, Claudio Vitali
For many years primary Sjögren's syndrome (pSS) has been considered an orphan disease, since no specific therapies were recognized as being capable of contrasting the development and progression of this disorder. The treatment of oral and ocular features, as well as of the systemic organ involvement, has been entrusted to the joint management of different subspecialty physicians, like ophthalmologists, otolaryngologists, dentists and rheumatologists. These latter subspecialty doctors are usually more involved in the treatment of systemic extraglandular involvement and, to do it, they have long been using the conventional therapies borrowed by the treatment schedules adopted in other systemic autoimmune diseases...
February 2018: Therapeutic Advances in Musculoskeletal Disease
https://www.readbyqxmd.com/read/29374778/respiratory-deficiency-in-yeast-mevalonate-kinase-deficient-may-explain-mkd-associate-metabolic-disorder-in-humans
#20
Manuella Maria Silva Santos, Carolina Elsztein, Rafael Barros De Souza, Sérgio de Sá Leitão Paiva, Jaqueline Azevêdo Silva, Sergio Crovella, Marcos Antonio De Morais
Mevalonate kinase deficiency (MKD) an orphan drug rare disease affecting humans with different clinical presentations, is still lacking information about its pathogenesis; no animal or cell model mimicking the genetic defect, mutations at MVK gene, and its consequences on the mevalonate pathway is available. Trying to clarify the effects of MVK gene impairment on the mevalonate pathway we used a yeast model, the erg12-d mutant strain Saccharomyces cerevisiae (orthologous of MKV) retaining only 10% of mevalonate kinase (MK) activity, to describe the effects of reduced MK activity on the mevalonate pathway...
January 27, 2018: Current Genetics
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