prove the outcome.

This study showed that RIS patients are unique in their epidemiology and tumour characteristics. They have a poor prognosis and need special research investigating new intensive treatment strategies to improve the outcome.We searched whether the accumulation of Advanced Glycation End-products (AGEs), reflected by the skin autofluorescence (SAF), could predict diabetic foot ulcers (DFUs) during the long-term follow-up of people with type 1 diabetes. During year 2009, we measured the SAF with an AGE-Reader in 206 subjects with type 1 diabetes. DFU and amputations were registered during the 10 following years. selleck kinase inhibitor The relation between the SAF and later DFU was analyzed by Cox model regression, adjusted for vascular risk factors. The 206 participants were mainly men (55.8%), 51 ± 15 years old, with a 22 ± 13 years diabetes duration. Twelve subjects presented a DFU. Their SAF were higher 2.61 ± 0.89 AU vs 2.11 ± 0.53 for the others (p = 0.003), related to the risk of DFU (OR3.69; 95% CI 1.06-12.79) after adjustment for age, gender, diabetes duration, initial HbA1c, arterial hypertension, history of smoking, blood lipids and use of a statin. Five subjects were amputated, also related to the initial SAF OR 11.28 (95% CI 1.76-79.97) after adjustment for age, gender, duration of diabetes, and HbA1c. The SAF has already been related to diabetic neuropathy and peripheral arterial disease. It predicts DFU in type 1 diabetes, which suggests that AGEs play a role in this highly specific and feared complication.Inherited neuropathies are amongst the most common neuromuscular disorders. The distinction from chronic inflammatory demyelinating polyneuropathy (CIDP) may be challenging, considering its rarity in childhood, that genetic neuropathies may show secondary inflammatory features, and that subacute CIDP presentations may closely mimic the disease course of inherited disorders. The overlap between genetic neuropathies and CIDP is increasingly recognized in adults but rarely reported in children. Here we report 4 children with a neuropathy of subacute onset, initially considered consistent with an immune-mediated neuropathy based on suggestive clinical, laboratory and neurophysiological features. None showed convincing response to intravenous immunoglobulin therapy, leading to re-evaluation and confirmation of a genetic neuropathy in each case (including PMP22, MPZ and SH3TC2 genes). A review of the few Paediatric cases reported in the literature showed similar delays in diagnosis and no significant changes to immunomodulatory treatment. Our findings emphasize the importance of considering an inherited neuropathy in children with a CIDP-like presentation. In addition to an inconclusive response to treatment, subtle details of the family and developmental history may indicate a genetic rather than an acquired background. Correct diagnostic confirmation of a genetic neuropathy in a child is crucial for appropriate management, prognostication and genetic counselling.Pompe disease is a rare inherited metabolic and neuromuscular disorder, presenting as a spectrum, with the classic infantile form on one end and the more slowly progressive non-classic form on the other end. While being a hallmark in classic infantile Pompe disease, cardiac involvement in non-classic Pompe disease seems rare. Vascular abnormalities, such as aneurysms and arterial dolichoectasia, likely caused by glycogen accumulation in arterial walls, have been reported in non-classic Pompe patients. With this first systematic review on cardiovascular disease in non-classic Pompe disease, we aim to gain insight in the prevalence and etiology of cardiovascular disease in these patients. Forty-eight studies (eight case-control studies, 15 cohort studies and 25 case reports/series) were included. Fourteen studies reported cardiac findings, 25 studies described vascular findings, and nine studies reported both cardiac and vascular findings. Severe cardiac involvement in non-classic Pompe disease patients has rarely been reported, particularly in adult-onset patients carrying the common IVS1 mutation. There are indications that intracranial dolichoectasia and aneurysms are more prevalent in non-classic Pompe patients compared to the general population. To further investigate the prevalence of cardiovascular disease in non-classic Pompe patients, larger case-control studies that also study established cardiovascular risk factors should be conducted.The aetiology of plantar fasciitis (PF) remains uncertain and to date, it is not known if there is an association with spring ligament laxity. In this study, 28 patients with unilateral plantar fasciitis were evaluated. A digital Klaumeter was used to assess first ray for instability and lateral plane translation was used as a measure of spring ligament laxity in the affected vs unaffected foot (internal control). Retromalleolar tenderness as a sign of a reactive tibialis posterior tendon was also assessed. The mean lateral translation score for symptomatic feet was 67.2 (95% CI [63.26-71.14]), compared to asymptomatic feet mean of 33.0 (95% CI [27.35-38.65] p less then 0.05). The mean TMT instability score for symptomatic feet was 11.3 (95% CI [10.29-12.3]), compared to the asymptomatic feet mean of 5.9 (95% CI [4.49-7.31] p less then 0.05). 100% of symptomatic feet had a retromalleolar tenderness over the tibialis posterior compared to 14% of asymptomatic feet. This is the first study to demonstrate a statistically significant increase in spring ligament strain in feet affected with PF using internal controls. The study postulates that tensile overload at the medial plantar fascia develops secondary to spring ligament failure regardless of foot shape. Furthermore, this condition can be regarded as an early warning sign of adult acquired flat foot disorder (AAFD). Future treatments for PF should not further destabilise the medial arch. This understanding may allow development of new treatment strategies in restoring spring ligament integrity to offload the plantar fascia strain.

Rituximab is increasingly used in IgG4-related disease (IgG4-RD) but high costs limit its wide off-label administration. European and US regulatory agencies have recently approved rituximab biosimilars for the treatment of different rheumatologic and hematological conditions. No data are available, yet, on the efficacy and safety of rituximab biosimilars for the treatment of IgG4-RD. Scope of the present work is to evaluate the efficacy and safety of the rituximab biosimilar CT-P10 (RTX-B) in patients with IgG4-RD.

Patients with active IgG4-RD, naïve to rituximab or switched from the originator (RTX-O) to the biosimilar were treated with RTX-B and prospectively followed-up for 18 months. Safety and efficacy were assessed at six months. Relapse rate was assessed at 18 months. Disease activity was assessed by means of the IgG4-RD Responder Index (IgG4-RD RI).

Thirty-eight patients were included in this study. Thirty-three patients (87%) were naïve to RTX. Five patients (13%) relapsed after RTX-O and were switched to RTX-B.