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 2019/02/27

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.

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 2019/02/27

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.

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 2019/02/26

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 2019/02/23

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.

Malignant Solitary Fibrous Tumor of the Humerus: A Case Report of an Extremely Rare Primary Bone Tumor.

Int J Surg Pathol. 2018 Dec;26(8):772-776

Authors: Suarez-Zamora DA, Rodriguez-Urrego PA, Soto-Montoya C, Rivero-Rapalino O, Palau-Lazaro MA

Abstract
Solitary fibrous tumor (SFT) is a spindle-shaped cell neoplasm originally described in the pleura, but subsequently found in many anatomic sites. Only few cases of primary SFTs in the bone have been previously described in the literature. We present the case of an 86-year-old man with a 1-week history of pain in his left arm. Imaging studies demonstrated a well-defined osteolytic lesion in the proximal humerus measuring 6.1 cm in diameter. Sections showed a round to spindle-shaped cell neoplasm with prominent mitotic activity (28 mitoses per 10 high-power fields) and areas of necrosis, focally surrounding staghorn-shaped vessels. The tumor cells were positive for CD34, CD99, Bcl-2, and STAT6 and negative for smooth muscle actin, epithelial membrane antigen, and cytokeratin AE1/AE3. These findings were consistent with a malignant SFT involving the left humerus. Although extremely rare, SFT should be considered in the differential diagnosis of primary bone tumors. This is the first case report of a primary SFT in a long bone with malignant histological features.

PMID: 29961401 [PubMed - indexed for MEDLINE]

Morphologic and Immunohistochemical Characteristics of Anorectal Melanoma.

Int J Surg Pathol. 2018 Dec;26(8):725-729

Authors: Charifa A, Zhang X

Abstract
Anorectal melanoma is a rare aggressive disease. Due to its rarity and considerable histologic and immunohistochemical variabilities, misdiagnosis as lymphoma, carcinoma, sarcoma, and/or gastrointestinal stromal tumor is not uncommon, particularly in amelanotic cases. We reviewed histologic features and immunohistochemical stains of 19 anorectal melanoma cases. Histopathologic features were evaluated including junctional activity, melanin pigment, and morphologic features. Immunohistochemical stains were performed using Sox10, S100 protein, HMB-45, melan-A, CD56, and cytokeratins. Epithelioid histopathologic morphology was observed in 63.2% of the cases followed by 47.4% of the cases with spindle-cell, 26.3% with lymphoma-like, and 26.3% with pleomorphic morphologies. Junctional melanocytic activity was seen in almost half of the cases. Melanin pigment was absent (amelanotic) in nearly 40% of the cases. Immunohistochemically, diffuse positive expression of Sox10, S100 protein, melan-A, and HMB-45 was seen in 100%, 40%, 53.3%, and 38.5% of the cases, respectively. Cytokeratins were negative and CD56 was positive in 2 cases. These findings indicate that anorectal melanomas often show one or combined histolopathologic features without presence of melanin pigment and absence of junctional melanocytic activity. Anorectal melanoma should be kept in mind in the differential diagnosis of malignant neoplasms of anorectal region with epithelioid, spindle-cell, lymphoma-like, and pleomorphic morphologies. Sox10 immunohistochemistry stain can be used as a first-line screening tool to avoid extensive or unnecessary workups and/or potential misdiagnosis.

PMID: 29759015 [PubMed - indexed for MEDLINE]

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Eur J Med Genet. 2019 Feb 14;:

Authors: Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E

Abstract
Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT. Biallelic mutations in the ATM gene were identified in all studied subjects; these lesions included one large gene rearrangement, which was reliably detected by NGS and validated by multiplex ligation-dependent probe amplification (MLPA). There was a pronounced founder effect, as 17 of 30 (57%) pathogenic ATM alleles in the patients of Slavic origin were represented by three recurrent mutations (c.5932G > T, c.450_453delTTCT, and c.1564_1565delGA). These data have to be taken into account while considering the genetic diagnosis and screening for ataxia-telangiectasia syndrome.

PMID: 30772474 [PubMed - as supplied by publisher]

Editorial on special topic ISCB 2015: "Clinical research design, rare diseases, and personalized medicine".

Biom J. 2017 07;59(4):607-608

Authors: Roes K

PMID: 28677212 [PubMed - indexed for MEDLINE]

[Lipedema: up-to-date of a long forgotten disease].

Wien Med Wochenschr. 2017 Oct;167(13-14):343-348

Authors: Wollina U

Abstract
Lipedema is a chronic disorder of subcutaneous adipose tissue of unknown etiology not uncommon among post-puberty women. The disease has a negative impact on self-esteem, mobility, and quality of life. Lipedema is characterized by symmetrical, disfiguring hyperplastic adipose tissue combined with bruising and pain. Untreated lipedema fosters osteoarthritis, secondary lymphedema, limited mobility, and psychosocial stigmatization. Treatment consists of conservative complex decongestive therapy and surgery by microcannular tumescent liposuction. Liposuction is the only available treatment capable to reduce the pathological adipose tissue durable and to prevent complications.

PMID: 28493139 [PubMed - indexed for MEDLINE]

Ileal schwannoma causing intussusception in an adult.

BMJ Case Rep. 2018 Oct 30;2018:

Authors: Roulston G, Elwan H, Obeid N, Lirosi F

Abstract
Ileal schwannomas are extremely rare tumours. Very few cases have been previously reported. Most cases present with abdominal pain and gastrointestinal bleeding; intussusception is a rare presentation. Due to limitations in imaging modalities, arriving at a diagnosis preoperatively can be challenging. The only reliable method of diagnosis, and treatment, is resection of the tumour, followed by histological and immunohistochemical testing. This report details the rare case of intussusception as the presenting feature of an ileal schwannoma.

PMID: 30381306 [PubMed - indexed for MEDLINE]

[Treatment networks and associations of patients with rare diseases].

Cien Saude Colet. 2018 Oct;23(10):3247-3256

Authors: Lima MAFD, Gilbert ACB, Horovitz DDG

Abstract
Patients' associations are an example of biosocial groups, since their formation is motivated by common biological characteristics, such as rare diseases, and they are sometimes included in social movements in health. Even though the National Policy on Comprehensive Care for Persons with Rare Diseases was enacted in 2014, patients still struggle to ensure access to and treatment by the Unified Health System. The way in which associations of patients with rare diseases gain access to treatment via social networks, is investigated. This research is part of a study about the use of social media by associations of patients with rare diseases, which employs netnography - ethnography applied to the web - as the data-gathering method. Data sources were pages of the associations on Facebook in Brazil. It was seen that the activities of the associations are multi-faceted, ranging from patient and family guidance about treatment and quality of life, to active participation in the elaboration and implementation of public policies. The discourses suggest that the focus of patients' associations is, in the majority of cases, the access to drugs rather than the effective enactment of the national policy geared towards rare diseases.

PMID: 30365844 [PubMed - indexed for MEDLINE]

Imaging technique for the diagnosis of onychomatricoma.

J Eur Acad Dermatol Venereol. 2018 Nov;32(11):1874-1878

Authors: Cinotti E, Veronesi G, Labeille B, Cambazard F, Piraccini BM, Dika E, Perrot JL, Rubegni P

Abstract
Onychomatricoma is a rare tumour that derives from the nail matrix and grows within the nail plate. The clinical presentation can mimic many other tumours and conditions, and surgical biopsy and histopathological examination are necessary to confirm the diagnosis. As nail surgery is a painful experience for the patient and sometimes can leave permanent onychodistrophy, more precise preoperative diagnosis is needed to distinguish onychomatricoma from other nail diseases more accurately and to limit surgical interventions. The objective of this study was to evaluate current literature on imaging techniques for the diagnosis of onychomatricoma in order to understand how this technology can help the presurgical diagnosis of this tumour. We searched in the Cochrane Skin Group Specialised library, Medline, Embase and LILACS databases all studies evaluating imaging technique for the diagnosis of onychomatricoma up to February 2018. We found that not only nail dermoscopy, but also reflectance confocal microscopy, optical coherence tomography, ultrasonography and magnetic resonance can be useful in this field.

PMID: 29869357 [PubMed - indexed for MEDLINE]

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Eur J Hum Genet. 2018 05;26(5):652-659

Authors: Mackley MP, Blair E, Parker M, Taylor JC, Watkins H, Ormondroyd E

Abstract
With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results-including secondary findings (SF)-are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered-including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF. Informed by extensive contact with the healthcare system, interviewees demonstrated high levels of understanding of genetic testing and held pragmatic views: many are content not knowing SF. Interviewees expressed trust in the system and healthcare providers, as well as an appreciation of limited resources; acknowledging existing disease burden, many preferred to focus on their primary condition. Many demonstrated an expectation for recontact and assumed the possibility of later access to initially declined SF. In the absence of such an infrastructure, it is important that responsibilities for recontact are delineated, expectations are addressed, and the long-term impact of decisions is made clear during consent. In addition, some interviewees demonstrated fluid views towards SF, and suggestions were made that perceptions may be influenced by family history. Further research into the changing desirability of SF and behavioural impact of disclosure are needed, and the development and introduction of mechanisms to respond to changes in patient views should be considered.

PMID: 29440777 [PubMed - indexed for MEDLINE]

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.

Eur J Hum Genet. 2018 05;26(5):631-643

Authors: Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D

Abstract
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs. Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. The finder concentrates information that is currently sparse on different repositories (inventories, websites, scientific journals, technical reports, etc.), including aggregated data and metadata from participating databases. Aggregated data provided by the finder, if appropriately checked, can be used by researchers who are trying to estimate the prevalence of a RD, to organize a clinical trial on a RD, or to estimate the volume of patients seen by different clinical centers. The finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research. There are several kinds of users and potential uses for the RD-Connect Registry & Biobank Finder, including researchers collaborating with academia and the industry, dealing with the questions of basic, translational, and/or clinical research. As of November 2017, the finder is populated with aggregated data for 222 registries and 21 biobanks.

PMID: 29396563 [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 2019/02/14

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 2019/02/14

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.

Lung and airway shape in neuroendocrine cell hyperplasia of infancy.

Pediatr Radiol. 2018 11;48(12):1745-1754

Authors: Mastej EJ, DeBoer EM, Humphries SM, Cook MC, Hunter KS, Liptzin DR, Weinman JP, Deterding RR

Abstract
BACKGROUND: Neuroendocrine cell hyperplasia of infancy (NEHI) is a rare lung disease associated with significant air trapping. Although chest CT is crucial in establishing a diagnosis, CT and biopsy findings do not reveal airway abnormalities to explain the air trapping.
OBJECTIVE: We compared lung and airway morphology obtained from chest CT scans in children with NEHI and control children. In the children with NEHI, we explored relationships between lung and airway shape and lung function.
MATERIALS AND METHODS: We performed a retrospective review of children with NEHI who underwent clinical chest CT. We identified control children of similar size and age. We created lung masks and airway skeletons using semi-automated software and compared them using statistical shape modeling methods. Then we calculated a logistic regression model using lung and airway shape to differentiate NEHI from controls, and we compared shape model parameters to lung function measurements.
RESULTS: Airway and lung shapes were statistically different between children with NEHI and controls. We noted a broad lung apex in the children with NEHI and a significantly increased apical anterior-posterior lung diameter. A logistic regression model including lung shape was 90% accurate in differentiating children with NEHI from controls. Correlation coefficients were significant between lung function values and lung and airway shape.
CONCLUSION: Lung and airway shapes were different between children with NEHI and control children in this cohort. Children with NEHI had an increased anteroposterior diameter of their lungs that might be useful in the diagnostic criteria.

PMID: 29955904 [PubMed - indexed for MEDLINE]

Peritoneal Carcinomatosis of Rare Ovarian Origin Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy: A Multi-Institutional Cohort from PSOGI and BIG-RENAPE.

Ann Surg Oncol. 2018 Jun;25(6):1668-1675

Authors: Mercier F, Bakrin N, Bartlett DL, Goere D, Quenet F, Dumont F, Heyd B, Abboud K, Marolho C, Villeneuve L, Glehen O, PSOGI Working Group, BIG-RENAPE Working Group

Abstract
PURPOSE: Ovarian cancer is the most common deadly cancer of gynecologic origin. Patients often are diagnosed at advanced stage with peritoneal metastasis. There are many rare histologies of ovarian cancer; some have outcomes worse than serous ovarian cancer. Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) can be considered for patients with recurrence. This study was designed to assess the impact of CRS and HIPEC on survival of patient with peritoneal metastasis from rare ovarian malignancy.
METHODS: A prospective, multicentric, international database was retrospectively searched to identify all patients with rare ovarian tumor (mucinous, clear cells, endometrioid, small cell hypercalcemic, and other) and peritoneal metastasis who underwent CRS and HIPEC through the Peritoneal Surface Oncology Group International (PSOGI) and BIG-RENAPE working group. The postoperative complications, long-term results, and principal prognostic factors were analyzed.
RESULTS: The analysis included 210 patients with a median follow-up of 43.5 months. Median overall survival (OS) was 69.3 months, and the 5-year OS was 57.7%. For mucinous tumors, median OS and DFS were not reached at 5 years. For granulosa tumors, median overall survival was not reached at 5 years, and median DFS was 34.6 months. Teratoma or germinal tumor showed median overall survival and DFS that were not reached at 5 years. Differences in OS were not statistically significant between histologies (p = 0.383), whereas differences in DFS were (p < 0.001).
CONCLUSIONS: CRS and HIPEC may increases long-term survival in selected patients with peritoneal metastasis from rare ovarian tumors especially in mucinous, granulosa, or teratoma histological subtypes.

PMID: 29637438 [PubMed - indexed for MEDLINE]

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.

Int J Environ Res Public Health. 2018 09 21;15(10):

Authors: Gainotti S, Mascalzoni D, Bros-Facer V, Petrini C, Floridia G, Roos M, Salvatore M, Taruscio D

Abstract
The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an "odyssey" and, for some, a diagnosis may remain frustratingly elusive. The International Rare Disease Research Consortium proposed, as ultimate goal for 2017⁻2027, to enable all people with a suspected RD to be diagnosed within one year of presentation, if the disorder is known. Subsequently, unsolved cases would enter a globally coordinated diagnostic and research pipeline. In-depth analysis of the genotype through next generation sequencing, together with a standardized in-depth phenotype description and sophisticated high-throughput approaches, have been applied as diagnostic tools to increase the chance of a timely and accurate diagnosis. The success of this approach is evident in the Orphanet database. From 2010 to March 2017 over 600 new RDs and roughly 3600 linked genes have been described and identified. However, combination of -omics and phenotype data, as well as international sharing of this information, has raised ethical concerns. Values to be assessed include not only patient autonomy but also family implications, beneficence, non-maleficence, justice, solidarity and reciprocity, which must be respected and promoted and, at the same time, balanced among each other. In this work we suggest that, to maximize patients' involvement in the search for a diagnosis and identification of new causative genes, undiagnosed patients should have the possibility to: (1) actively participate in the description of their phenotype; (2) choose the level of visibility of their profile in matchmaking databases; (3) express their preferences regarding return of new findings, in particular which level of Variant of Unknown Significance (VUS) significance should be considered relevant to them. The quality of the relationship between individual patients and physicians, and between the patient community and the scientific community, is critically important for optimizing the use of available data and enabling international collaboration in order to provide a diagnosis, and the attached support, to unsolved cases. The contribution of patients to collecting and coding data comprehensively is critical for efficient use of data downstream of data collection.

PMID: 30248891 [PubMed - indexed for MEDLINE]

[Enforcement of a new data protection law in Europe: A threat and an opportunity for registries and cohorts in the field of rare diseases].

Rev Med Interne. 2018 10;39(10):769-771

Authors: Aymé S

PMID: 29625715 [PubMed - indexed for MEDLINE]