11 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 2018/10/24

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.

11 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 2018/10/24

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.

11 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 2018/10/23

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.

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 2018/10/20

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.

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 2018/10/20

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.

Outrageous prices of orphan drugs: a call for collaboration.

Lancet. 2018 09 01;392(10149):791-794

Authors: Luzzatto L, Hyry HI, Schieppati A, Costa E, Simoens S, Schaefer F, Roos JCP, Merlini G, Kääriäinen H, Garattini S, Hollak CE, Remuzzi G, Second Workshop on Orphan Drugs participants

PMID: 30037734 [PubMed - indexed for MEDLINE]

Tenosynovial Giant Cell Tumor of the Clinoid: Rare Condition.

World Neurosurg. 2018 Oct;118:168-171

Authors: Gelinne A, Akture E, Tranmer B

Abstract
BACKGROUND: A tenosynovial giant cell tumor (TGCT) is a rare type of tumor that primarily arises from the tendon sheath, synovium, and bursae. In rare cases, these tumors can affect joints of the head and neck such as the temporomandibular joint. This is the only case to our knowledge of an intracranial TGCT tumor of the clinoid.
CASE DESCRIPTION: We present the case of a 25-year-old female with a 2-year history of progressively blurred vision in her left eye without visual field defects. She denied any headaches or symptoms referable to the left eye region. Past medical history was significant for meningitis at 10 months of age. Family history was noncontributory with no history of brain tumors.
CONCLUSIONS: A tumor originating from the left anterior clinoid was found intraoperatively and confirmed by histology to be a TGCT.

PMID: 30026165 [PubMed - indexed for MEDLINE]

When rarity is an asset: political activism for the rights of persons with rare diseases in the Brazilian Unified National Health System.

Cad Saude Publica. 2018 Feb 05;34(1):e00058017

Authors: Moreira MCN, Nascimento MAFD, Horovitz DDG, Martins AJ, Pinto M

PMID: 29412316 [PubMed - indexed for MEDLINE]

Anosodiaphoria in a Simenon's character.

Cortex. 2017 10;95:257-258

Authors: Cubelli R

PMID: 28389005 [PubMed - indexed for MEDLINE]

7 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 2018/10/18

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.

7 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 2018/10/18

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.

A steroid-resistant cryptogenic multifocal ulcerous stenosing enteritis.

Niger J Clin Pract. 2018 May;21(5):678-680

Authors: Yang Y, Zhao L, Zhang Y

Abstract
Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is a rare chronic and recurrent disease with unknown etiology. It characterized by shallow ulcers, submucosa thickness, and no signs of systematic inflammation. Now, steroids are the principle therapy for CMSUE. However, still, there were few patients who did not response to it. Here, we present a young woman who diagnosed with CMUSE. She underwent a surgery because of capsule endoscopy retention. After relapse, she had received budesonide and methylprednisolone separately while both of them did not stop her disease. Till now, 24 years after her initial symptom, there are no signs of carcinoma yet.

PMID: 29735872 [PubMed - indexed for MEDLINE]

Image of the month: cyst of the canal of Nuck.

Acta Chir Belg. 2018 Apr;118(2):138-140

Authors: Karapolat B, Ata Korkmaz HA, Kocak G, Bulut E

PMID: 29433378 [PubMed - indexed for MEDLINE]

Dissecting disease entities out of the broad spectrum of bipolar-disorders.

Psychiatry Res. 2018 01;259:330-332

Authors: Levine J, Toker L, Agam G

Abstract
The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder. Such an assumption may be further reinforced if both the rare medical disease and its bipolar clinical phenotype demonstrate a] a similar mode of inheritance (i.e, autosomal dominant); b] brain involvement; and c] data implicating that the etiopathological mechanisms underlying the rare diseases affect biological processes reported to be associated with bipolar disorders and their treatment. We exemplify our suggested approach by a rare case of autosomal dominant leucodystrophy, a disease entity exhibiting nuclear lamin B1 pathology also presenting bipolar symptomatology.

PMID: 29101875 [PubMed - indexed for MEDLINE]

Urodynamic performance in boys with Y-type urethral duplication.

J Pediatr Surg. 2018 Jul;53(7):1326-1329

Authors: Zhang Y, Qu Y, Jiao L, Zhang W, Sun N, Tian J, Li M, Song H

Abstract
PURPOSE: The aim of this study was to elucidate the urodynamic features of patients with Y-type urethral duplication.
METHODS: Patients with Y-type urethral duplication were retrospectively analyzed. Clinical presentation, urodynamic findings, surgical methods, and treatment outcomes were reviewed.
RESULTS: From 2014 to 2016, six boys were diagnosed with Y-type urethral duplication at our institution. All patients underwent urodynamic testing. Urodynamic testing in patient 1 and 2 revealed detrusor pressure as 100cmH2O and 88cmH2O in the voiding stage, while urinary flow rate were 0ml/s and 2.8ml/s with volume of residual urine as 300ml and 110ml respectively, which consistent with the typical urodynamic of lower urinary tract obstruction. Patient 1, 3, 4 and 6 showed impaired bladder compliance as 7.5ml/H2O, 12ml/H2O, 6ml/H2O and 6ml/H2O respectively. Patient 5 and 6 also showed maximum urethral pressure as 110cmH2O and 125cmH2O with maximum urethral closure pressure as 103cmH2O and 110cmH2O respectively in the resting state.
CONCLUSIONS: Y-type urethral duplication is one potential cause of lower urinary tract obstruction, as seen in the abnormal urodynamic findings in our patients. Further studies are needed to elucidate the characteristics of this rare condition and determine optimal surgical management.
TYPE OF STUDY: Retrospective case series.
LEVEL OF EVIDENCE: Level 4 observational study without controls.

PMID: 28629820 [PubMed - indexed for MEDLINE]

Neoplastic non-bacterial endocarditis of the aortic valve.

Eur Heart J Cardiovasc Imaging. 2017 May 01;18(5):605

Authors: Kwon S, Jeon J, Kim J, Kim MJ, Yoon JS

PMID: 28025269 [PubMed - indexed for MEDLINE]

14 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 2018/10/16

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.

p53 modeling as a route to mesothelioma patients stratification and novel therapeutic identification.

J Transl Med. 2018 Oct 13;16(1):282

Authors: Tian K, Bakker E, Hussain M, Guazzelli A, Alhebshi H, Meysami P, Demonacos C, Schwartz JM, Mutti L, Krstic-Demonacos M

Abstract
BACKGROUND: Malignant pleural mesothelioma (MPM) is an orphan disease that is difficult to treat using traditional chemotherapy, an approach which has been effective in other types of cancer. Most chemotherapeutics cause DNA damage leading to cell death. Recent discoveries have highlighted a potential role for the p53 tumor suppressor in this disease. Given the pivotal role of p53 in the DNA damage response, here we investigated the predictive power of the p53 interactome model for MPM patients' stratification.
METHODS: We used bioinformatics approaches including omics type analysis of data from MPM cells and from MPM patients in order to predict which pathways are crucial for patients' survival. Analysis of the PKT206 model of the p53 network was validated by microarrays from the Mero-14 MPM cell line and RNA-seq data from 71 MPM patients, whilst statistical analysis was used to identify the deregulated pathways and predict therapeutic schemes by linking the affected pathway with the patients' clinical state.
RESULTS: In silico simulations demonstrated successful predictions ranging from 52 to 85% depending on the drug, algorithm or sample used for validation. Clinical outcomes of individual patients stratified in three groups and simulation comparisons identified 30 genes that correlated with survival. In patients carrying wild-type p53 either treated or not treated with chemotherapy, FEN1 and MMP2 exhibited the highest inverse correlation, whereas in untreated patients bearing mutated p53, SIAH1 negatively correlated with survival. Numerous repositioned and experimental drugs targeting FEN1 and MMP2 were identified and selected drugs tested. Epinephrine and myricetin, which target FEN1, have shown cytotoxic effect on Mero-14 cells whereas marimastat and batimastat, which target MMP2 demonstrated a modest but significant inhibitory effect on MPM cell migration. Finally, 8 genes displayed correlation with disease stage, which may have diagnostic implications.
CONCLUSIONS: Clinical decisions related to MPM personalized therapy based on individual patients' genetic profile and previous chemotherapeutic treatment could be reached using computational tools and the predictions reported in this study upon further testing in animal models.

PMID: 30316293 [PubMed - in process]

Burden of illness of follicular lymphoma and marginal zone lymphoma.

Ann Hematol. 2018 Oct 13;:

Authors: Monga N, Nastoupil L, Garside J, Quigley J, Hudson M, O'Donovan P, Parisi L, Tapprich C, Thieblemont C

Abstract
Follicular lymphoma (FL) and marginal zone lymphoma (MZL) are two subtypes of indolent B cell non-Hodgkin lymphoma (NHL) that account for approximately 20% and 12% of all NHLs, respectively. FL and MZL are rare conditions with orphan disease designations. We conducted a comprehensive review of the burden of FL and MZL that encompasses the epidemiological, real world clinical, economic, and humanistic impact of these diseases globally. A targeted literature search identified 31 eligible studies for review. Epidemiological coverage was poor, with data obtained for studies from only seven countries. The incidences of both subtypes were low: age-standardized incidence rates of FL ranged from 2.1/100,000 in France to 4.3/100,000 in the USA, while for MZL it varied geographically from 0.5/100,000 in Australia to 2.6/100,000 in the UK. The cumulative total direct healthcare costs for FL were higher for patients with progressive disease compared to those without ($30,890 vs. $8704 at 12 months, respectively) and main driver of costs related to the use of chemotherapy. Five-year overall survival was improved in patients with FL compared with MZL (e.g., 76.5% vs 60.7% in one study that reported on both subtypes). Mortality rates were particularly lower in female patients with FL aged < 60 years. However, limited outcome data for MZL patients were identified. FL and MZL contribute significant burden on healthcare systems and on patients globally, with delays in progression potentially leading to cost savings. More rigorous characterization of these two NHL subtypes, new and more effective treatments, and standardization of reporting would lead to a more robust understanding of future data in this disease area.

PMID: 30315345 [PubMed - as supplied by publisher]

A rare cause of oligoarthritis with septic presentation.

BMJ Case Rep. 2018 Apr 17;2018:

Authors: Hoversten P, Beachey J, Pham M, Bhagra A

Abstract
A 33-year-old man presented with new-onset, asymmetric, migratory oligoarthritis in the setting of several weeks of nausea and vomiting, diarrhoea, fevers and dysuria. He was initially treated in the inpatient setting with broad-spectrum antibiotics due to concern for an evolving sepsis presentation. Arthrocentesis of a large right knee effusion revealed inflammatory synovial fluid without findings suggestive of septic arthritis. Human leucocyte antigen B27 was positive and, taken together with the antecedent history of gastroenteritis, dysuria and inflammatory oligoarthritis, the clinical diagnosis was most consistent with reactive arthritis. Antibiotics were discontinued. His treatment course proved refractory to non-steroidal anti-inflammatory drugs and intra-articular and systemic glucocorticoid therapy with concurrent use of sulfasalazine and ultimately necessitated treatment with a tumour necrosis factor alpha inhibitor.

PMID: 29666092 [PubMed - indexed for MEDLINE]