Fertility and pregnancy outcomes in women with spondyloarthritis: a systematic review and meta-analysis.

OBJECTIVE To determine the impact of spondyloarthritis (SpA) and its treatments on fertility and pregnancy outcomes, as well as the impact of pregnancy on disease activity. METHODS A systematic review and meta-analyses were performed, including studies in women with SpA (axial (axSpA) and peripheral SpA, including psoriatic arthritis (PsA)). The heterogeneity between studies was quantified (I2), and in case of substantial heterogeneity, the results were reported in a narrative review. RESULTS Within 4397 eligible studies, 21 articles were included, assessing overall 3566 patients and 3718 pregnancies compared to 42264 controls. Fertility suffers from a lack of data in the literature. We found an increased risk of preterm birth (pooled OR 1,64 [1,15-2,33], I2 =24% in axSpA and 1,62 [1,23-2,15], I2 =0,0% in PsA), small for gestational age (pooled OR 2,05, [1,09-3,89], I2 =5,8% in axSpA), preeclampsia (pooled OR 1,59, [1,11-2,27], I2 =0% in axSpA) and caesarean section (pooled OR 1,70 [1,44-2,00], I2 =19,9% in axSpA and 1,71 [1,14-2,55], I2 =74,3% in PsA), without any other unfavourable pregnancy outcome. Further analysis showed a significant higher risk for elective caesarean (pooled OR 2,64, [1,92-3,62], I2 =0,0% in axSpA and 1,47, [1,15-1,88], I2 =0,0% in PsA), without increased risk for emergency caesarean in PsA. During pregnancy, there appears to be a tendency for unchanged or worsened disease activity in axSpA and unchanged or improved disease activity in PsA. Both conditions tend to flare in postpartum period. CONCLUSION SpA seems to be associated with an increased risk of preterm birth, small for gestational age, preeclampsia, and caesarean section

Normal salivary gland ultrasonography could rule out the diagnosis of Sjögren’s syndrome in anti-SSA-negative patients with sicca syndrome

Objective To evaluate the relevance of salivary gland ultrasound (SGUS) and its place in the diagnostic algorithm in patients referred with dry syndrome (DS) for a suspicion of Sjögren’s syndrome (SS).Methods We included all patients assessed at our dedicated DS clinic from June 2015 to September 2019 for which a SGUS has been carried out. Images were read blindly and the worst salivary gland was scored according to OMERACT classification. Clinical features, disease activity and treatments were collected.Results 337 patients were seen from June 2015 to September 2019. 269 patients underwent SGUS. 77 patients were diagnosed with SS and 192 did not meet the ACR/EULAR criteria for SS: non-Sjögren’s DS (NSDS). Of these 192 patients, 60 had another possible cause of DS, and 132 patients were diagnosed with SAPS (sicca, asthenia, polyalgia syndrome).SGUS abnormalities were significantly higher in patients with SS versus NSDS: 51% vs 8% for a score ≥2 (p<0.0001), and 43% vs 3% for a score ≥3 (p<0.0001). SGUS score ≥2 had a specificity (Sp) of 91%, sensitivity (Se) of 57%, positive predictive value (PPV) of 72% and negative predictive value (NPV) of 82% for SS diagnosis. SGUS’s characteristics in SSA-negative patients were similar to the whole population (Se=42%, Sp=91%, PPV=42%, NPV=92%). The high specificity and NPV in this population could avoid labial salivary gland biopsy (LSGB) in SSA-negative patients with normal SGUS (186 patients, 69%).Conclusion SGUS is useful for SS diagnosis. If anti-SSA antibodies are negative and SGUS score <2, the diagnosis of SS is very improbable and LSGB could be avoided

Myositis as a manifestation of SARS-CoV-2

International audienc

Characteristics of Patients with Late-Onset Pompe Disease in France: Insights from the French Pompe Registry in 2022

International audienceBackground and ObjectivesThe French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa.MethodsApproximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.ResultsWe describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients.DiscussionThis update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

International audienceOur objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD)

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

International audienceBACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and observed different patterns in males and females. Then, we assessed gender impact on social and economic domains using the AFM-Téléthon DM1 survey (n = 970), and morbidity and mortality using the French National Health Service Database (n = 3301). RESULTS: Men more frequently had (1) severe muscular disability with marked myotonia, muscle weakness, cardiac, and respiratory involvement; (2) developmental abnormalities with facial dysmorphism and cognitive impairment inferred from low educational levels and work in specialized environments; and (3) lonely life. Alternatively, women more frequently had cataracts, dysphagia, digestive tract dysfunction, incontinence, thyroid disorder and obesity. Most differences were out of proportion to those observed in the general population. Compared to women, males were more affected in their social and economic life. In addition, they were more frequently hospitalized for cardiac problems, and had a higher mortality rate.CONCLUSION: Gender is a previously unrecognized factor influencing DM1 clinical profile and severity of the disease, with worse socio-economic consequences of the disease and higher morbidity and mortality in males. Gender should be considered in the design of both stratified medical management and clinical trial

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease

International audienceThe efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared.Twelve patients (7 males) were identified. Median age at symptom onset was 24years [IQR=15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24h [IQR=21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5years [IQR=35.75; 66.50]. Median treatment duration was 55months [IQR=39.5; 81.0]. During observational period no adverse reaction to ERT was recorded, five patients (41.67%) died, three decreased their ventilation time by 30, 60 and 90min and two increased their assisted walking distance, by 80 and 20m.Some patients at a very advanced stage of Pompe disease may show a mild benefit from ERT, in terms of increased time of autonomous ventilation and of enlarged distance in assisted walk. ERT can be initiated in these patients in order to retain their current level of independence and ability to perform daily life activities

Patient selection of DM-Scope registry.

<p>Patient selection of DM-Scope registry.</p