📇 Rhumatologue · MONTFERMEIL · (93) · Salarié

MME Mannel HAMID

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Auteur de référence en rhumatologie
36 articles scientifiques publiés — un praticien à la pointe de la recherche
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📍 MONTFERMEIL (93)SalariéRPPS 10102204376

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Top publications · les plus citées

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

American journal of medical genetics. Part A · 2015

📚 501 citations🎯 RCR 14.60Top 1% NIH🔓 Open Access📄 PDF gratuit ↗

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Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease‐onset (74 patients; 22.8% of all patients where data were available), or a post‐natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub‐acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non‐syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow‐up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi‐Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon‐stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon‐stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome‐related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. © 2015 Wiley Periodicals, Inc.

Opening-wedge high tibial osteotomy without bone graft

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA · 2010

📚 72 citations🎯 RCR 3.71Top 12% NIH

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AbstractOpen wedge high tibial osteotomy has become the trend for correction of varus knee deformities. The drawbacks were the need of autogenous bone graft with its associated morbidity, and later the use of bone substitutes with their cost and delayed healing. In this study, a total of 58 consecutive patients underwent high tibial osteotomy with internal fixation by wedge (toothed) plate and screws without bone graft, from 2004 to 2008. Age of the patients ranged from 24 to 65 years. There were 37 women and 21 men. The osteotomy opening size ranged from 8 to 14 mm. The mean follow‐up was 38 months. The osteotomy united in all patients. Average time to union was 12.4 weeks (range 8–16 weeks). Partial loss of correction occurred in one osteotomy. There was significant difference between the healing time and the size of the osteotomy opening. The results at the final follow‐up using the HSS score were excellent in 51 knees (88%) and good in seven knees (12%). Despite the routine addition of bone graft as a part of the high tibial osteotomy procedure, this study supports medial opening‐wedge high tibial osteotomy up to 14 mm without bone graft or bone substitutes, which shortens the operative time and avoids unnecessary morbidity.

Kartogenin hydrolysis product 4-aminobiphenyl distributes to cartilage and mediates cartilage regeneration

Theranostics · 2019

📚 41 citations🎯 RCR 2.23Top 23% NIH🔓 Open Access

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MME Mannel HAMID

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Top publications · les plus citées

Publications scientifiques (36) — classées par pathologie

Transversal14

Essai clinique5

Revue générale4

Lupus3

csDMARDs2

Qualité de vie / PROMs2

AINS1

Anti-TNF1

Arthrite juvénile1

Case report / série1

Épidémiologie & registres1

Génétique1

Sjögren1

Vascularites1

Vascularites des gros vaisseaux1

Vraie vie / RWE1

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