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1.
Mov Disord Clin Pract ; 10(5): 811-818, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37205256

RESUMO

Background: Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years). Objective: We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD. Methods: Eladocagene exuparvovec, a recombinant adeno-associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery. Results: Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l-6-[18F] fluoro-3, 4-dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline. Conclusion: Two patients with a severe form of AADCD had an objective motor and non-motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.

2.
J Thromb Haemost ; 18(4): 857-864, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31899848

RESUMO

BACKGROUND: After a proximal lower limb deep vein thrombosis (DVT; involving popliteal veins or above), up to 40% of patients develop postthrombotic syndrome (PTS) as assessed by the Villalta scale (VS). Poor initial anticoagulant treatment is a known risk factor for PTS. The risk of developing PTS after isolated distal DVT (infra-popliteal DVT without pulmonary embolism), and the impact of anticoagulant treatment on this risk, are uncertain. METHODS: Long-term follow-up of CACTUS double-blind trial comparing 6 weeks of s.c. nadroparin (171 IU/kg/d) versus s.c. placebo for a first symptomatic isolated distal DVT. At least 1 year after randomization, patients had a PTS assessment in clinic or by phone using the VS. RESULTS: After a median follow-up of 6 years, PTS was present in 30% (n = 54) of the 178 patients who had a PTS assessment. PTS was moderate or severe in 24% (n = 13) of cases. There was no statistically significant difference in prevalence of PTS in the nadroparin versus placebo groups (29% versus 32%, P = .6), except in patients without evidence of primary chronic venous insufficiency (9% versus 24%, P = .04). Rates of venous thromboembolism recurrence during follow-up in the nadroparin and placebo groups were, respectively, 8% (n = 7) and 14% (n = 13; P = .2). CONCLUSION: After a first isolated distal DVT, the risk of PTS is substantial but much lower than that reported after proximal DVT. Anticoagulation with nadroparin doesn't provide any clear benefit to prevent PTS, except in patients without preexisting chronic venous insufficiency. Anticoagulation might be associated with a lower risk of venous thromboembolism recurrence.


Assuntos
Cactaceae , Síndrome Pós-Trombótica , Trombose Venosa , Anticoagulantes/efeitos adversos , Humanos , Veia Poplítea , Síndrome Pós-Trombótica/diagnóstico , Síndrome Pós-Trombótica/epidemiologia , Síndrome Pós-Trombótica/etiologia , Fatores de Risco , Trombose Venosa/diagnóstico , Trombose Venosa/tratamento farmacológico , Trombose Venosa/epidemiologia
3.
Thromb Res ; 136(3): 526-30, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26188923

RESUMO

INTRODUCTION: Distal deep-vein thromboses (iDDVT) are infra-popliteal DVTs. They are as frequent but less serious than proximal DVT. Their management is debated. METHODS: Clinical practice survey among a random selection of 111 general practitioners (GP) and 56 vascular medicine physicians (VMP) working in Languedoc-Roussillon (France) to assess and compare iDDVTs management by GP and VMP. RESULTS: In case of DVT, GP manage their patients alone in 35% of cases. In case of collaborative management, VMP initiate and stop anticoagulants (>74% of cases) whereas GP monitor anticoagulation (>76% of cases). With iDDVT, there was no difference between GP and VMP in terms of use (94% vs. 92%) and intensity of anticoagulation (full dose: 99%vs.100%). Duration of anticoagulation differed: GP modulated less frequently duration of anticoagulation in presence of a transient risk factor (58% vs. 90%, p<0.05) or according to the deep-calf or muscular location of iDDVT (6% vs. 36%, p<0.05) and treated more frequently iDDVT as long as proximal DVT (49% vs. 13%, p<0.05). When comparing GP, there was no significant difference in terms of therapeutic management between those who used to manage DVT alone and those who used to manage in collaboration with a thrombosis expert. CONCLUSION: Treatment of iDDVT differed between GP and VMP. Half of GP don't modulate treatment according to anatomical location or to the provoked/unprovoked character of DVT. Given the low frequency of exposure to DVT in general practice, systematic referral to a thrombosis expert rather than continuous medical formation program seems appropriate to improve management.


Assuntos
Anticoagulantes/administração & dosagem , Cardiologia/estatística & dados numéricos , Clínicos Gerais/estatística & dados numéricos , Médicos de Atenção Primária/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Trombose Venosa/terapia , Adulto , Idoso , Feminino , França/epidemiologia , Pesquisas sobre Atenção à Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Atenção Primária à Saúde/estatística & dados numéricos , Atenção Secundária à Saúde/estatística & dados numéricos
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