Orphan or Rare Diseases
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +6 new citations
6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/07/05
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +6 new citations
6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/07/03
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +9 new citations
9 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/07/02
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +12 new citations
12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/07/01
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +11 new citations
11 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/30
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +11 new citations
11 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/29
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +18 new citations
18 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/28
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +9 new citations
9 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/25
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +6 new citations
6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/24
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +8 new citations
8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/23
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +13 new citations
13 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/22
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +12 new citations
12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/21
PubMed comprises more than 24 million 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.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
J Med Genet. 2016 Jun 17;
Authors: Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L
Abstract
BACKGROUND: Heterozygous NSD1 mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were identified in patients exhibiting only some Sotos syndrome features. Both NSD1 and SETD2 genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me). The DNMT3A gene encodes an epigenetic 'reader' protein of the H3K36me chromatin mark.
METHODS: We aimed at confirming the implication of DNMT3A and SETD2 mutations in an overgrowth phenotype, through a comprehensive targeted-next generation sequencing (NGS) screening in 210 well-phenotyped index cases with a Sotos-like phenotype and no NSD1 mutation, from a French cohort.
RESULTS: Six unreported heterozygous likely pathogenic variants in DNMT3A were identified in seven patients: two nonsense variants and four de novo missense variants. One de novo unreported heterozygous frameshift variant was identified in SETD2 in one patient. All the four DNMT3A missense variants affected DNMT3A functional domains, suggesting a potential deleterious impact. DNMT3A-mutated index cases shared similar clinical features including overgrowth phenotype characterised by postnatal tall stature (≥+2SD), macrocephaly (≥+2SD), overweight or obesity at older age, intellectual deficiency and minor facial features. The phenotype associated with SETD2 mutations remains to be described more precisely. The p.Arg882Cys missense de novo constitutional DNMT3A variant found in two patients is the most frequent DNMT3A somatic mutation in acute leukaemia.
CONCLUSIONS: Our results illustrate the power of targeted NGS to identify rare disease-causing variants. These observations provided evidence for a unifying mechanism (disruption of apposition and reading of the epigenetic chromatin mark H3K36me) that causes an overgrowth syndrome phenotype. Further studies are needed in order to assess the role of SETD2 and DNMT3A in intellectual deficiency without overgrowth.
PMID: 27317772 [PubMed - as supplied by publisher]
Extensive surgery and lymphadenectomy do not improve survival in primary melanoma of the anorectum: results from analysis of a large database (SEER).
Extensive surgery and lymphadenectomy do not improve survival in primary melanoma of the anorectum: results from analysis of a large database (SEER).
Colorectal Dis. 2016 Jun 18;
Authors: Ciarrocchi A, Pietroletti R, Carlei F, Amicucci G
Abstract
AIM: Primary anorectal melanoma is a rare disease with a dismal prognosis due to early distant metastasis. The prognostic value of positive loco-regional lymph nodes and the impact of lymphadenectomy on overall survival is unclear. We have investigated this by analysis of data obtained from a national representative database, controlling for potential confounders.
METHODS: Data were retrieved from the SEER database. Multiple imputation analysis was performed to deal with missing data. Cox regression models were formulated using different prognostic factors including site of origin, gender, size, race, rate of lymph nodes metastasis (ratio between positive lymph nodes count and total lymph nodes harvested), extent of lymphadenectomy (none, level I etc), age, type of surgery, stage of disease and administration of radiotherapy.
RESULTS: Our population was comprised of 208 patients who underwent surgery between 1998 and 2012. Rate of lymph nodemetastasis (P = 0.027; HR = 1.873; CI 1.076 - 3.261) and race (P = 0.019; HR 2.291, CI 1.148 - 4.575) were found to be independent predictors of survival.
CONCLUSION: Based on the data retrieved from the SEER database, metastasis to loco-regional lymph nodes is an important prognostic factor, but lymphadenectomy does not improve survival. This article is protected by copyright. All rights reserved.
PMID: 27317493 [PubMed - as supplied by publisher]
Production of Retrovirus-Based Vectors in Mildly Acidic pH Conditions.
Production of Retrovirus-Based Vectors in Mildly Acidic pH Conditions.
Methods Mol Biol. 2016;1448:41-8
Authors: Holic N, Fenard D
Abstract
Gene transfer vectors based on retroviridae are increasingly becoming a tool of choice for biomedical research and for the development of biotherapies in rare diseases or cancers. To meet the challenges of preclinical and clinical production, different steps of the production process of self-inactivating γ-retroviral (RVs) and lentiviral vectors (LVs) have been improved (e.g., transfection, media optimization, cell culture conditions). However, the increasing need for mass production of such vectors is still a challenge and could hamper their availability for therapeutic use. Recently, we observed that the use of a neutral pH during vector production is not optimal. The use of mildly acidic pH conditions (pH 6) can increase by two- to threefold the production of RVs and LVs pseudotyped with the vesicular stomatitis virus G (VSV-G) or gibbon ape leukemia virus (GALV) glycoproteins. Here, we describe the production protocol in mildly acidic pH conditions of GALVTR- and VSV-G-pseudotyped LVs using the transient transfection of HEK293T cells and the production protocol of GALV-pseudotyped RVs produced from a murine producer cell line. These protocols should help to achieve higher titers of vectors, thereby facilitating experimental research and therapeutic applications.
PMID: 27317171 [PubMed - in process]
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Neurology. 2016 Jun 17;
Authors: Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L
Abstract
OBJECTIVE: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias.
METHOD: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic paraplegia genes.
RESULTS: Segregation analysis revealed in all cases only one parent as a heterozygous mutation carrier whereas the other parent did not carry FA2H mutations. A macro deletion within FA2H, which could have caused a hemizygous genotype, was excluded by multiplex ligation-dependent probe amplification in all cases. Finally, a microsatellite array revealed uniparental disomy (UPD) in all 4 families leading to homozygous FA2H mutations. UPD was confirmed by microarray analyses and methylation profiling.
CONCLUSION: UPD has rarely been described as causative mechanism in neurodegenerative diseases. Of note, we identified this mode of inheritance in 4 families with the rare diagnosis of spastic paraplegia type 35 (SPG35). Since UPD seems to be a relevant factor in SPG35 and probably additional autosomal recessive diseases, we recommend segregation analysis especially in nonconsanguineous homozygous index cases to unravel UPD as mutational mechanism. This finding may bear major repercussion for genetic counseling, given the markedly reduced risk of recurrence for affected families.
PMID: 27316240 [PubMed - as supplied by publisher]
Iohexol plasma clearance, a simple and reliable method to measure renal function in conscious mice.
Iohexol plasma clearance, a simple and reliable method to measure renal function in conscious mice.
Pflugers Arch. 2016 Jun 17;
Authors: Luis-Lima S, Rodríguez-Rodríguez AE, Martín-Higueras C, Sierra-Ramos C, Carrara F, Arnau MR, de la Rosa DA, Salido E, Gaspari F, Porrini E
Abstract
In mice, renal function evaluated by serum creatinine has limitations. Gold standard methods using radioactive markers are cumbersome. We aimed to develop the iohexol plasma clearance as a simple assessment of renal function in conscious mice. We used two groups of mice: testing and validation, formed by 16 animals (8 male and 8 female) each. Iohexol was injected intravenously into the tail vein (6.47 mg), and tail tip blood samples were collected at 1, 3, 7, 10, 15, 35, 55, and 75 min. Iohexol plasma clearances were calculated in two ways: (1) two-compartment model (CL2) using all time points and (2) one-compartment model (CL1) using only the last four points. In the testing group, CL1 overestimated the true clearance (CL2). Therefore, CL1 was recalculated applying a correction factor calculated as the ratio between CL2/CL1. The latter was considered as the simplified method. CL2 averaged 223.3 ± 64.3 μl/min and CL1 252.4 ± 76.4 μl/min, which lead to a CF of 0.89. Comparable results for CL2, CL1, and simplified method were observed in the validation group. Additionally, we demonstrated the capacity of the simplified method to quantitatively assess different degrees of renal function in three mouse models: hyperoxaluric-CKD (87.4 ± 28.3 μl/min), heminephrectomized (135-0 ± 50.5 μl/min), and obese (399.6 ± 112.1 μl/min) mice. We have developed a simple and reliable method to evaluate renal function in conscious mice under diverse clinical conditions. Moreover, the test can be repeated in the same animal, which makes the method useful to examine renal function changes over time.
PMID: 27315812 [PubMed - as supplied by publisher]
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +18 new citations
18 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/18
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +10 new citations
10 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/17
PubMed comprises more than 24 million 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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +14 new citations
14 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")
These pubmed results were generated on 2016/06/16
PubMed comprises more than 24 million 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.