High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

BACKGROUND: The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. RESULTS: We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, and spans approximately 7.5 Mbp; however, three gaps still exist in this map with sizes of 425, 530 and 375 kbp, respectively, estimated from radiation hybrid mapping. CONCLUSIONS: Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13)

Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition

Dimethyl fumarate vs Teriflunomide: an Italian time-to-event data analysis

The introduction of oral disease-modifying therapies (DMTs) for relapsing-remitting multiple sclerosis (RRMS) changed algorithms of RRMS treatment

Dimethyl fumarate vs Teriflunomide: an Italian time-to-event data analysis

The introduction of oral disease-modifying therapies (DMTs) for relapsing-remitting multiple sclerosis (RRMS) changed the therapeutic landscape and algorithms of RRMS treatment (1). In Europe, dimethyl fumarate (DMF) and teriflunomide (TRF) are approved as first-line agents and are often used as the initial therapeutic choice (2, 3). Pivotal trials showed the efficacy of both DMTs on controlling clinical relapses, disability accrual and magnetic resonance imaging (MRI) activity (4-8). Both DMTs had overall good tolerability. There have been no head-to-head randomized trials to compare these two DMTs; however, several real-world evidence (RWE) studies have compared DMF and TRF and provided useful information to guide the selection of either drug for MS patients (9, 10). Although different statistical methods were used, both drugs demonstrated an ability to control disease activity (11-13). In some RWE studies, patients on DMF had a lower relapse rate and a higher relapse-free survival time (11, 12). In this registry-based nationwide cohort Cox-model study, we compared the clinical and radiological activity between patients treated with DMF or TRF