Ojrd - ojrd.com - Orphanet Journal of Rare Diseases - Latest Articles
General Information:
Latest News:
Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review 23 Aug 2013 | 05:00 am
Background: Neurofibromatosis 1 (NF1) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality beca...
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder 17 Aug 2013 | 05:00 am
Background: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and results: We identifi...
Systematic review of available evidence on 11 high-priced inpatient orphan drugs 16 Aug 2013 | 05:00 am
Background: Attention for Evidence Based Medicine (EBM) is growing, but evidence for orphan drugs is argued to be limited and inferior. This study systematically reviews the available evidence on clin...
TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia 16 Aug 2013 | 05:00 am
Background: Mullerian aplasia (MA) is a congenital disorder of the female reproductive tract with absence of uterus and vagina with paramount impact on a woman's life. Despite intense research, no maj...
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein 14 Aug 2013 | 05:00 am
Objectives/backgroundAtaxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA...
Correction: COG5-CDG: expanding the clinical spectrum 14 Aug 2013 | 05:00 am
No description available
Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children 8 Aug 2013 | 05:00 am
Hypersensitivity pneumonitis (HP) also called exogenous allergic alveolitis = extrinsic allergic alveolitis in children is an uncommon condition and may not be recognized and treated appropriately.To ...
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on S... 8 Aug 2013 | 05:00 am
Background: Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of case...
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy 7 Aug 2013 | 05:00 am
Background: Congenital generalized lipodystrophy (CGL) or Berardinelli--Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is though...
Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized ... 6 Aug 2013 | 05:00 am
Background: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib...
