6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/07/07

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet. 2017 Feb;25(2):162-165

Authors: Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Lasko P, Dawkins HJ, Austin CP, Boycott KM

Abstract
The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.

PMID: 27782107 [PubMed - indexed for MEDLINE]

Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases.

J Clin Epidemiol. 2016 Nov;79:10-21

Authors: Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH

Abstract
OBJECTIVES: To explore the responsiveness of patient-reported outcomes (PROs) in interventional studies involving patients with rare lysosomal storage diseases (LSDs).
STUDY DESIGN AND SETTING: We searched eight databases for experimental and nonexperimental studies. Pairs of trained reviewers independently screened articles and subsequently extracted data from the eligible studies. Among studies with 10 or more patients using a valid PRO, we assessed the responsiveness of PROs based on a reanalysis of the data using minimal important difference estimates. Our analyses focused on statistically significant within-group differences in PROs for observational studies or the statistically significant between-group differences in PRO scores for controlled studies.
RESULTS: Of 2,679 unique records, 62 interventional studies addressing patients with Fabry (55%), Gaucher (19%), Pompe (16%), and mucopolysaccharidoses (11%) proved eligible. The most frequently used PROs were the Short-Form-36 (25 studies), Brief Pain Inventory (20 studies), EuroQoL-5D (9 studies), and the Fatigue Severity Scale (6 studies). Observational studies suggest that PROs sometimes detect significant within-group changes when present. Randomized trials raise questions regarding the responsiveness of PROs to small differences between groups.
CONCLUSIONS: Most studies have relied on generic PROs to evaluate quality of life and symptoms in patients with rare LSDs. PROs appear more responsive in observational studies than randomized trials.

PMID: 27381737 [PubMed - indexed for MEDLINE]

Acute Lid Swelling: a Series of Unusual Cases, Treatment and Follow-up.

Klin Monbl Augenheilkd. 2016 Apr;233(4):402-5

Authors: Shojaati G, Chaloupka K

Abstract
BACKGROUND: There are many different aetiologies for acute lid swelling, including infection, inflammation, degeneration, tumours and trauma. We present five uncommon cases of acute lid swelling and give an overview of differential diagnoses for rapidly evolving eyelid swelling.
HISTORY AND SIGNS: We reviewed the charts of five patients with initial presentation of acute lid swelling. For the five patients, there were diagnoses of Churg Strauss syndrome, an allergic reaction to hyaluronic acid, lymphangioma, a ruptured dermoid cyst and a co-infected pre-existing orbital lesion that was only evident in the follow-up.
THERAPY AND OUTCOME: Individual patients required totally different treatments. A ruptured dermoid is a dramatic problem that demands immediate surgical attention. Swelling in sinusitis in a child is just as important, but requires antibiotic treatment, careful follow-up and subsequent treatment of any secondarily infected pre-existing lesion. The less dramatic first presentations were more difficult to diagnose and required protracted observation and immunosuppressive treatment.
CONCLUSIONS: The key to success often lies in the assessment of the patient's history and correctly timed surgery. Dramatic first manifestations were often easier to treat than initially low grade lid swelling. Unclear results, such as a low grade eosinophilia, should not be ignored.

PMID: 27116493 [PubMed - indexed for MEDLINE]

High serum serotonin in sudden infant death syndrome.

Proc Natl Acad Sci U S A. 2017 Jul 03;:

Authors: Haynes RL, Frelinger AL, Giles EK, Goldstein RD, Tran H, Kozakewich HP, Haas EA, Gerrits AJ, Mena OJ, Trachtenberg FL, Paterson DS, Berry GT, Adeli K, Kinney HC, Michelson AD

Abstract
Sudden infant death syndrome (SIDS), the leading cause of postneonatal infant mortality, likely comprises heterogeneous disorders with the common phenotype of sudden death without explanation upon postmortem investigation. Previously, we reported that ∼40% of SIDS deaths are associated with abnormalities in serotonin (5-hydroxytryptamine, 5-HT) in regions of the brainstem critical in homeostatic regulation. Here we tested the hypothesis that SIDS is associated with an alteration in serum 5-HT levels. Serum 5-HT, adjusted for postconceptional age, was significantly elevated (95%) in SIDS infants (n = 61) compared with autopsied controls (n = 15) [SIDS, 177.2 ± 15.1 (mean ± SE) ng/mL versus controls, 91.1 ± 30.6 ng/mL] (P = 0.014), as determined by ELISA. This increase was validated using high-performance liquid chromatography. Thirty-one percent (19/61) of SIDS cases had 5-HT levels greater than 2 SDs above the mean of the controls, thus defining a subset of SIDS cases with elevated 5-HT. There was no association between genotypes of the serotonin transporter promoter region polymorphism and serum 5-HT level. This study demonstrates that SIDS is associated with peripheral abnormalities in the 5-HT pathway. High serum 5-HT may serve as a potential forensic biomarker in autopsied infants with SIDS with serotonergic defects.

PMID: 28674018 [PubMed - as supplied by publisher]

Peripheral Nerve Sheath Tumors: The "Orphan Disease" of National Databases.

World Neurosurg. 2017 Jul;103:948-949

Authors: Kerezoudis P, Bydon M, Spinner RJ

PMID: 28672720 [PubMed - in process]

Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure.

J Clin Aesthet Dermatol. 2017 May;10(5):36-48

Authors: Tabor A, Pergolizzi JV, Marti G, Harmon J, Cohen B, Lequang JA

Abstract
Objective: Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. Methods: The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Results: There are at least 31 subtypes of EB, including junctional EB, dystrophic EB, and Kindler syndrome. Genetic research is crucial in finding strategies to manage and possibly cure EB, which is often undiagnosed or misdiagnosed. EB may present in newborns and may persist over the course of a lifetime. Serious complications can occur with EB, including chronic blisters, wounds, ulcers, pruritus, clubbing of hands and feet, and amputations. Pain is frequently reported. About 80 percent of patients with recessive dystrophic EB will succumb to squamous cell carcinoma by age 55. Promising directions for future research include genome editing, gene therapy, and cell-based therapies. Conclusion: Our growing understanding of genetics and cell therapies may lead to promising therapeutic advances to treat this challenging condition.

PMID: 28670357 [PubMed - in process]

12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/07/01

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

CME: Brugada-Syndrom.

Praxis (Bern 1994). 2017;106(5):235-241

Authors: Parianos D, Saguner AM

PMID: 28253814 [PubMed - indexed for MEDLINE]

[Immune mediated necrotizing myopathy associated with statin treatment].

Cas Lek Cesk. Fall 2016;155(6):319-323

Authors: Vencovský J

Abstract
Immune mediated necrotizing myopathy (IMNM) is an acquired inflammatory myopathy. One form of the disease is associated with serum anti-HMGCR autoantibodies and significant proportion of patients has a history of statin treatment. The disease is rare with the incidence estimated around 23 cases/100 000 statin treated individuals. In contrast to direct statin toxicity, anti-HMGCR associated IMNM is an induced autoimmune disease.Patients suffer particularly from severe muscle weakness, which may be occasionally totally immobilizing. Very high serum creatine kinase levels are usually detected. HMGCR (3-hydroxy-3-methylglutarylcoenzyme A reductase) is a pharmacological target of statins and the fact that patients develop autoantibodies against the enzyme suggests a possible effect of statins in induction of HMGCR antigenicity. Muscle histopathology shows predominant muscle fibre necrosis usually without concomitant lymphocytic infiltrates.Most of the patients require long-term treatment with glucocorticoids or immunosuppressive drugs. In resistant cases use of intravenous immunoglobulins may be necessary as the only effective approach to improve the disease.

PMID: 27917636 [PubMed - indexed for MEDLINE]

Efficient Results in Semantic Interoperability for Health Care. Findings from the Section on Knowledge Representation and Management.

Yearb Med Inform. 2016 Nov 10;(1):184-187

Authors: Soualmia LF, Charlet J

Abstract
OBJECTIVES: To summarize excellent current research in the field of Knowledge Representation and Management (KRM) within the health and medical care domain.
METHOD: We provide a synopsis of the 2016 IMIA selected articles as well as a related synthetic overview of the current and future field activities. A first step of the selection was performed through MEDLINE querying with a list of MeSH descriptors completed by a list of terms adapted to the KRM section. The second step of the selection was completed by the two section editors who separately evaluated the set of 1,432 articles. The third step of the selection consisted of a collective work that merged the evaluation results to retain 15 articles for peer-review.
RESULTS: The selection and evaluation process of this Yearbook's section on Knowledge Representation and Management has yielded four excellent and interesting articles regarding semantic interoperability for health care by gathering heterogeneous sources (knowledge and data) and auditing ontologies. In the first article, the authors present a solution based on standards and Semantic Web technologies to access distributed and heterogeneous datasets in the domain of breast cancer clinical trials. The second article describes a knowledge-based recommendation system that relies on ontologies and Semantic Web rules in the context of chronic diseases dietary. The third article is related to concept-recognition and text-mining to derive common human diseases model and a phenotypic network of common diseases. In the fourth article, the authors highlight the need for auditing the SNOMED CT. They propose to use a crowdbased method for ontology engineering.
CONCLUSIONS: The current research activities further illustrate the continuous convergence of Knowledge Representation and Medical Informatics, with a focus this year on dedicated tools and methods to advance clinical care by proposing solutions to cope with the problem of semantic interoperability. Indeed, there is a need for powerful tools able to manage and interpret complex, large-scale and distributed datasets and knowledge bases, but also a need for user-friendly tools developed for the clinicians in their daily practice.

PMID: 27830249 [PubMed - indexed for MEDLINE]

Endocervical gastric-type adenocarcinoma, an unrelated HPV tumour: difficulties in screening and diagnosis.

BMJ Case Rep. 2017 Apr 11;2017:

Authors: Lima PC, Teixeira J, Aires GN, Andrade LA

Abstract
Gastric-type adenocarcinoma of the cervix (GAS) is an uncommon and aggressive tumour unrelated to human papillomavirus (HPV) infection with distinctive histological and immunohistochemical characteristics. GAS may be associated with lobular endocervical glandular hyperplasia (LEGH), another unusual lesion. We report a case of a 59-year-old woman with screening cytology 'AGC-Neo' and cervical conisation exhibiting cervical intraepithelial neoplasia grade 1, extensive LEGH and canal sampling with abundant mucinous cells. Based on the possible association between LEGH and GAS, a total hysterectomy was performed. The histological diagnosis revealed a morphological gradient of lesions: LEGH, minimal deviation adenocarcinoma and GAS with lymphatic invasion. Immunohistochemistry revealed strong MUC6 expression and no p16 staining. After pelvic radiotherapy, the patient continues follow-up evaluation. The diagnostic difficulties of GAS and its relationship with LEGH are discussed. This rare tumour is important because it is poorly symptomatic and potentially aggressive. In addition, the methods for cancer control related to HPV do not affect this tumour.

PMID: 28404551 [PubMed - indexed for MEDLINE]

Newborn Sequencing in Genomic Medicine and Public Health.

Pediatrics. 2017 Feb;139(2):

Authors: Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL

Abstract
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

PMID: 28096516 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2017/06/27

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

[Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].

Vnitr Lek. Fall 2016;62(11):887-894

Authors: Češka R, Štulc T, Votavová L, Schwarzová L, Vaclová M, Freiberger T

Abstract
Hyperlipoproteinemia (HLP) and dyslipidemia (DLP) are of course mainly perceived as diseases of common incidence and are typically seen as the greatest risk factors (RF) in the context of the pandemic of cardiovascular diseases. This is certainly true and HLP or DLP overall affect tens of percents of adults. However we cannot overlook the fact that disorders (mostly congenital) of lipid metabolism exist which, though not formally defined as such, amply satisfy the conditions for classification as rare diseases. Our account only includes a brief overview of the rare HLPs based on the dominant disorder of lipid metabolism, i.e. we shall mention the rare primary forms of hypercholesterolemia, primary forms of hypertriglyceridemia and the rare primary combined forms of HLP. In recent years an amazing progress has been reached relating to these diseases, in particular in the area of exact identification of the genetic defect and the mechanism of defect formation, however each of these diseases would require a separate article, though outside the field of clinical internal medicine. Therefore we shall discuss homozygous familial hypercholesterolemia (FH) in greater depth, partially also the "severe" form of heterozygous FH and in the following part the lipoprotein lipase deficiency; that means, diseases which present an extreme and even fatal risk for their carriers at a young age, but on the other hand, new therapeutic possibilities are offered within their treatment. An internist then should be alert to the suspicion that the described diseases may be involved, know about their main symptoms, where to refer the patient and how to treat them. Also dysbetalipoproteinemia (or type III HLP) will be briefly mentioned. Homozygous FH occurs with the frequency of 1 : 1 000 000 (maybe even more frequently, 1 : 160 000), it is characterized by severe isolated hypercholesterolemia (overall cholesterol typically equal to 15 mmol/l or more), xanthomatosis and first of all by a very early manifestation of a cardiovascular disease. Myocardial infarction is not an exception even in childhood. The therapy is based on high-dose statins, statins in combination with ezetimib and now also newly on PCSK9 inhibitors. Lomitapid and partly also mipomersen hold great promise for patients. LDL apheresis then represents an aggressive form of treatment. Lipoprotein lipase deficiency (type I HLP) is mainly characterized by severe hypertriglyceridemia, serum milky in colour, and xanthomatosis. A fatal complication is acute recurrent pancreatitis. A critical part of the treatment is diet, however it alone is not enough to control a genetic disorder. The only approved treatment is gene therapy. Experimentally, as an "off label" therapy, it is used in case studies with a lomitapid effect. We have our own experience with this experimental therapy. Dysbetalipoproteinemia is a congenital disorder of lipoprotein metabolism, characterized by high cholesterol (CH) and triglyceride (TG) levels. The underlying cause of this disease is the defect of the gene providing for apolipoprotein E. It is clinically manifested by xanthomatosis, however primarily by an early manifestation of atherosclerosis (rather peripheral than coronary).Key words: Lipoprotein lipase deficiency - dysbetalipoproteinemia - familial hypercholesterolemia - gene therapy - homozygous FH - LDL apheresis - lomitapid - mipomersen - PCSK9 inhibitors - rare diseases.

PMID: 28128575 [PubMed - indexed for MEDLINE]

Current rare indications and future directions for implantable loop recorders.

Herzschrittmacherther Elektrophysiol. 2016 Dec;27(4):366-370

Authors: Wechselberger S, Piorkowski C, Pohl M

Abstract
The scope of application for implantable loop recorders has shifted away from the evaluation of unclear palpitations and syncope episodes to more complex conditions. This article focuses on rare indications of growing importance such as rhythm monitoring after ablation of atrial fibrillation or after cryptogenic stroke. Furthermore, forthcoming applications in various clinical settings are described, e. g., arrhythmia detection after myocardial infarction, after catheter-based valve interventions, in heart failure, and in cardiomyopathies. Enhancement of the capabilities of implantable loop recorders could broaden their fields of use.

PMID: 27873022 [PubMed - indexed for MEDLINE]

Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity.

Prog Mol Biol Transl Sci. 2016;140:75-95

Authors: Han JC

Abstract
Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. Patients with BDNF haploinsufficiency or inactivating mutations of the BDNF receptor exhibit hyperphagia, childhood-onset obesity, intellectual disability, and impaired nociception. Prader-Willi, Smith-Magenis, and ROHHAD syndromes are separate genetic disorders that do not directly affect the BDNF locus but share many similar clinical features with BDNF haploinsufficiency, and BDNF insufficiency is believed to possibly contribute to the pathophysiology of each of these conditions. In the general population, common variants of BDNF that affect BDNF gene expression or BDNF protein processing have also been associated with modest alterations in energy balance and cognitive functioning. Thus, variable degrees of BDNF insufficiency appear to contribute to a spectrum of excess weight gain and cognitive impairment that ranges in phenotypic severity. In this modern era of precision medicine, genotype-specific therapies aimed at increasing BDNF signaling in patients with rare and common disorders associated with BDNF insufficiency could serve as useful approaches for treating obesity and neurodevelopmental disorders.

PMID: 27288826 [PubMed - indexed for MEDLINE]

Congenital Cases of Concomitant Harlequin and Horner Syndromes.

J Pediatr. 2017 Mar;182:389-392

Authors: Miquel J, Piyaraly S, Dupuy A, Cochat P, Phan A

Abstract
We report three pediatric cases of concomitant congenital Horner and Harlequin syndromes. This association suggests a lesion at the superior cervical ganglion or just inferior. Often, no underlying lesion is documented.

PMID: 28038766 [PubMed - indexed for MEDLINE]

[Systemic lupus erythematosus : Unusual cutaneous manifestations].

Hautarzt. 2016 Dec;67(12):970-981

Authors: Stockinger T, Richter L, Kanzler M, Melichart-Kotik M, Pas H, Derfler K, Schmidt E, Rappersberger K

Abstract
BACKGROUND: Various different mucocutaneous symptoms may affect up to 80 % of systemic lupus erythematosus (SLE) patients.
OBJECTIVES: To investigate, various unspecific, but otherwise typical clinical symptoms of skin and mucous membranes that arise in SLE patients other than those defined as SLE criteria such as butterfly rash, chronic cutaneous lupus erythematosus, oral ulcers, and increased photosensitivity.
MATERIALS AND METHODS: Extensive search of peer-reviewed scientific articles was performed, medical histories of several SLE patients seen in our department were analyzed, and the rare disease courses in three SLE patients are presented.
RESULTS: Here we present a variety of unspecific but typical mucocutaneous manifestations in SLE patients: periungual erythema, periungual telangiectasia and periungual splinter hemorrhage, papules on the dorsum of the hands, scaling erythema, sometimes associated with necrosis, especially of the ears, along with complement deficiency, and the bizarre necroses of antiphospholipid syndrome. Furthermore, we show the typical clinico-histological features of neutrophilic urticarial dermatosis, as well as those of bullous SLE and finally a severe course of bacterial sepsis with Neisseria flavescens/macacae.
CONCLUSIONS: Here we show several unspecific but rather typical mucocutaneous symptoms in lupus patients that are indicative of SLE and thus may lead to an early diagnosis. Also, life-threatening bacterial sepsis may occur with microorganisms that are commonly considered "apathogenic", such as Neisseria flavescens/macacae, which exclusively affect immunosuppressed patients.

PMID: 27878308 [PubMed - indexed for MEDLINE]

The continuum of causality in human genetic disorders.

Genome Biol. 2016 Nov 17;17(1):233

Authors: Katsanis N

Abstract
Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.

PMID: 27855690 [PubMed - indexed for MEDLINE]