Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Brachyolmia is a rare form of skeletal dysplasia characterized by a wide genetic and clinical heterogeneity. This condition is usually diagnosed postnatally, and very few cases of prenatal diagnosis have been described so far. Here, we report a case of a pregnant woman at 20 weeks' gestation referred to our center because of fetal short long bones. On targeted ultrasound, mild bowing of the femurs and fibulae and mild micrognathia were also observed. Exome sequencing analysis showed the presence in compound heterozygosity of two pathogenic variants-both truncating variants-in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 (PAPSS2) gene, known to cause brachyolmia type 4 (OMIM #612847). Of note, all of the few cases reported prenatally have indeed truncating variants. Hence, we speculate this kind of variant is likely responsible for a complete loss of function of the protein leading to an earlier and more severe phenotype.

Imaging Techniques in Psoriatic Arthritis: Update 2012-2014 on Current Status and Future Prospects.

By providing additional and more sensitive information over clinical examination, imaging techniques are useful in the assessment of patients with psoriatic arthritis (PsA) and have been increasingly used to obtain additional clues to its pathogenesis. This review describes the current status and future development of conventional radiography, computed tomography, magnetic resonance imaging, positron emission tomography, and other novel techniques in the evaluation of PsA, with a focus on their use in diagnosing, monitoring, and predicting disease course and followup treatment response. The role and applications of ultrasonography are outside the scope and are reviewed elsewhere in these proceedings.

Ultrasound versus low-field magnetic resonance imaging in rheumatic diseases: a systematic literature review.

OBJECTIVES: US and MRI play a significant role in the diagnosis of rheumatic diseases and in monitoring treatment response. This systematic review summarises and evaluates available evidence on the value of low-field MRI compared to US in rheumatic diseases. METHODS: A computerised literature search was conducted by a single reviewer to identify relevant published articles on the diagnostic accuracy of low-field MRI compared to US in rheumatic diseases. The literature search comprised the period from January 1998 to September 2013. RESULTS: The search yielded a total of 1055 articles that were reviewed by title or abstract; finally, 23 articles fulfilling all inclusion criteria were included in the analysis. Our results show that low-field MRI is probably more sensitive than US in the detection of erosions, due to its higher multiplanar capacity. In OA there was a good correlation between US and MRI measurements for cartilage thickness and for effusion in the superior and in the lateral recesses. CONCLUSIONS: There are still few studies comparing US and low-field MRI for their diagnostic and prognostic value in rheumatology and it is currently difficult to draw any firm conclusions on the preferred imaging technique to answer specific clinical questions.