Orphan or Rare Diseases
Impact of rare diseases in oral health.
Impact of rare diseases in oral health.
Med Oral Patol Oral Cir Bucal. 2016 Jul 31;:0
Authors: Molina-García A, Castellanos-Cosano L, Machuca-Portillo G, Posada-de la Paz M
Abstract
BACKGROUND: Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade.
MATERIAL AND METHODS: Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with "oral health". The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted.
RESULTS: Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias.
CONCLUSIONS: The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia.
PMID: 27475682 [PubMed - as supplied by publisher]
Orofacial manifestations of scleroderma. A literature review.
Orofacial manifestations of scleroderma. A literature review.
Rev Stomatol Chir Maxillofac Chir Orale. 2016 Jul 27;
Authors: Hadj Said M, Foletti JM, Graillon N, Guyot L, Chossegros C
Abstract
INTRODUCTION: Scleroderma is a rare disease of the connective tissue (50 to 200 patients/1 million people; 60,000 patients in France). We conducted a literature review about the orofacial manifestations of scleroderma that have been little studied.
MATERIAL AND METHODS: The 45 articles found in 6 different databases by using the keywords "scleroderma", "systemic sclerosis", "oral medicine", "face" and published between 1944 and 2016 were selected, for a total of 328 patients.
RESULTS: A total of 1187 orofacial manifestations of scleroderma were identified, occurring mainly in women (84.5%) with a mean age of 40.2 years, 10 years on average after the first manifestation of the disease. The main ones were limitation of mouth opening (69.8%), widening of the periodontal ligament (67.3%), xerostomia (63.4%), telangiectasia (36.2%) and bone lesions (34.5%). Dental root resorptions, pulp and nose calcifications were also reported but with no evident link with scleroderma.
DISCUSSION: Orofacial manifestations of scleroderma are probably more common than reported. They mostly affect women with a mean age of 40. The most common oral manifestations are limitation of mouth opening, widening of the periodontal ligament and xerostomia. Because of the handicap they may be responsible for, these manifestations must be detected early in order to prevent from functional impairments and from dental and periodontal lesions.
PMID: 27475503 [PubMed - as supplied by publisher]
ROHHAD syndrome and evolution of sleep disordered breathing.
ROHHAD syndrome and evolution of sleep disordered breathing.
Orphanet J Rare Dis. 2016;11(1):106
Authors: Reppucci D, Hamilton J, Yeh EA, Katz S, Al-Saleh S, Narang I
Abstract
BACKGROUND: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHAD, the evolution of sleep disordered breathing (SDB) is not well studied. The aim of the study was to assess early manifestations of SDB and their evolution in ROHHAD syndrome.
METHODS: Retrospective study of children with ROHHAD at two Canadian centers. All children with suspected ROHHAD at presentation underwent polysomnography (PSG) to screen for nocturnal hypoventilation. PSG findings at baseline and follow-up were collected. Interventions and diagnostic test results were recorded.
RESULTS: Six children were included. The median age of rapid onset obesity and nocturnal hypoventilation (NH) was 3.5 and 7.2 years respectively. On initial screening for ROHHAD 4/6 (66.7 %) children had obstructive sleep apnea (OSA), 1/6 (16.7 %) had NH and 1/6 (16.7 %) had both OSA and NH. Follow up PSGs were performed in 5/6 children as one child died following a cardiorespiratory arrest. All children at follow up had NH and required non-invasive positive pressure ventilation. Additionally, 3/6 (50 %) children demonstrated irregular breathing patterns during wakefulness.
CONCLUSIONS: Children with ROHHAD may initially present with OSA and only develop NH later as well as dysregulation of breathing during wakefulness. The recognition of the spectrum of respiratory abnormalities at presentation and over time may be important in raising the index of suspicion of ROHHAD. Early recognition and targeted therapeutic interventions may limit morbidity and mortality associated with ROHHAD.
PMID: 27473663 [PubMed - as supplied by publisher]
Familial Mediterranean fever is no longer a rare disease in Japan.
Familial Mediterranean fever is no longer a rare disease in Japan.
Arthritis Res Ther. 2016;18(1):175
Authors: Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K, Yachie A, Masumoto J, Fujikawa K, Yamasaki S, Nakamura T, Ubara Y, Koga T, Nakashima Y, Shimizu T, Umeda M, Nonaka F, Yasunami M, Eguchi K, Yoshiura KI, Kawakami A
Abstract
BACKGROUND: The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations.
METHODS: We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases. Mutation detection in exons 1, 2, 3, and 10 of the FMF gene MEFV was performed by direct sequencing.
RESULTS: A total of 192 patients (31.9 %) were diagnosed with FMF according to FMF diagnostic criteria. These could be divided into sure FMF (56.3 %, n = 108) and probable FMF (43.7 %, n = 84) patients. Fever, abdominal symptoms, and thoracic symptoms were significantly more common in FMF than non-FMF patients. Among FMF patients, 26 (13.5 %) had concomitant rheumatic diseases. Most FMF patients (94.3 %, 181/192) carried at least one MEFV mutation. Allele frequencies of M694I (13.5 % vs 0 %) and E148Q (39.1 % vs 24.8 %) mutations were significantly higher in FMF compared with healthy subjects. Allele frequencies of common MEFV mutations in FMF patients were M694I (13.5 %), P369S (8.6 %), R408Q (8.1 %), G304R (2.9 %), R202Q (4.4 %), E148Q (39.1 %), L110P (11.7 %), and E84K (3.1 %). Patients with a sure FMF phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype.
CONCLUSION: The high prevalence of FMF in Japanese patients with unexplained fever was confirmed in the present study. FMF should be suspected in cases of unexplained fever or non-specific rheumatic manifestations, and mutational analysis of MEFV could be useful to predict the clinical phenotypes of FMF in Japan.
PMID: 27473114 [PubMed - as supplied by publisher]
("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 2016/07/30
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"); +10 new citations
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These pubmed results were generated on 2016/07/29
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("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +42 new citations
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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.
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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.
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("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +24 new citations
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These pubmed results were generated on 2016/07/21
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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +11 new citations
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These pubmed results were generated on 2016/07/20
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
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These pubmed results were generated on 2016/07/19
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.
[Colonic gallstone ileus: A rare cause of intestinal obstruction].
[Colonic gallstone ileus: A rare cause of intestinal obstruction].
Cir Cir. 2016 Jul 13;
Authors: Marenco-de la Cuadra B, López-Ruiz JA, Tallón-Aguilar L, López-Pérez J, Oliva-Mompeán F
Abstract
BACKGROUND: A gallstone colonic ileus is a very rare condition.
CLINICAL CASE: The case is reported of an 87 year-old patient who came to the Emergency Department due to an intestinal obstruction of several days onset, which was caused by a gallstone affected sigmoid colon.
CONCLUSION: Colonic gallstone ileus is a rare disease that usually occurs in older patients due to the passage of large gallstone directly from the gallbladder to colon, through a cholecystocolonic fistula. It has a high morbidity and mortality.
PMID: 27423884 [PubMed - as supplied by publisher]
Clinical guides for atypical hemolytic uremic syndrome in Japan.
Clinical guides for atypical hemolytic uremic syndrome in Japan.
Clin Exp Nephrol. 2016 Jul 15;
Authors: Kato H, Nangaku M, Hataya H, Sawai T, Ashida A, Fujimaru R, Hidaka Y, Kaname S, Maruyama S, Yasuda T, Yoshida Y, Ito S, Hattori M, Miyakawa Y, Fujimura Y, Okada H, Kagami S, Joint Committee for the Revision of Clinical Guides of Atypical Hemolytic Uremic Syndrome in Japan
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In 2013, we developed diagnostic criteria to enable early diagnosis and timely initiation of appropriate treatment for aHUS. Recent clinical and molecular findings have resulted in several proposed classifications and definitions of thrombotic microangiopathy and aHUS. Based on recent advances in this field and the emerging international consensus to exclude secondary TMAs from the definition of aHUS, we have redefined aHUS and proposed diagnostic algorithms, differential diagnosis, and therapeutic strategies for aHUS.
PMID: 27422619 [PubMed - as supplied by publisher]
Antiphospholipid syndrome.
Antiphospholipid syndrome.
Best Pract Res Clin Rheumatol. 2016 Feb;30(1):133-48
Authors: Khamashta M, Taraborelli M, Sciascia S, Tincani A
Abstract
Antiphospholipid syndrome (APS) is an autoimmune condition characterized by the occurrence of thrombosis (arterial and/or venous), often multiple, and/or pregnancy morbidity. Thrombosis is one of the major disease mechanisms, mainly caused by activating endothelial cells, monocytes, and platelets. At present, the management of APS patients with a history of thrombosis is based on long-term antithrombotic therapy, due to the high rate of recurrent thrombosis (29% per year without treatment). Obstetrical APS includes heterogeneous pregnancy complications whose pathogenesis has been increasingly elucidated in the past years. This is due to the current management and treatment, as 80% of APS patients achieve a live birth. The standard approach of APS is not supported by extensive evidence and the best options for refractory and incomplete cases need to be clarified. New and promising molecules are under investigation.
PMID: 27421221 [PubMed - in process]
("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:
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These pubmed results were generated on 2016/07/16
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.
("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases"); +11 new citations
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These pubmed results were generated on 2016/07/15
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
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These pubmed results were generated on 2016/07/14
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
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