RESUMEN
BACKGROUND: Trihexyphenidyl (THP) is an anticholinergic drug misused to procure hallucination, sedation, and anxiolysis. The aim of this cohort was to show and describe, within a public health risk management policy, the risks of a long-standing but relatively unknown addiction: THP addiction. METHODS: On Réunion island, a cohort with systematic data collection has been set up by addictologists working in the Centres for Addiction Prevention and Treatment, in the university hospital, and in general practices who have active lists of patients misusing THP. Data collection included socioeconomic data and clinical data concerning addiction. RESULTS: This cohort included 69 patients during November 2016. The average age of the patients was 36 years; 97% were men; 93% had living accommodation but only 32 % were employed. In this cohort drug administration was exclusively oral. The most common reasons for use were anxiolytic (46%), stimulation (26%), and sedation (10%), the main effects described were dyskinesia and behavioral disorders. Over half (61%) of the patients reported a coaddiction, mainly to benzodiazepines, cannabis, tobacco, alcohol, and buprenorphine. CONCLUSIONS: This cohort describing the clinical characteristics of 69 patients is the largest cohort studied for THP addiction. Patients from the Centres for Addiction Prevention and Treatment were the youngest and most recently addicted, whereas general practice patients had been addicted for longer and were more socially integrated. This clinical description of THP addiction therefore enables us to identify the patients who are the most at risk, to set up an adapted care protocol.
Asunto(s)
Antagonistas Muscarínicos/efectos adversos , Trastornos Relacionados con Sustancias/epidemiología , Trihexifenidilo/efectos adversos , Adolescente , Adulto , Factores de Edad , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Antagonistas Muscarínicos/administración & dosificación , Estudios Retrospectivos , Reunión/epidemiología , Factores de Riesgo , Factores de Tiempo , Trihexifenidilo/administración & dosificación , Adulto JovenRESUMEN
Inherited deficiency of major histocompatibility complex (MHC) class II molecules impairs antigen presentation to CD4(+) T cells and results in combined immunodeficiency (CID). Autosomal-recessive mutations in the RFXANK gene account for two-thirds of all cases of MHC class II deficiency. We describe here the genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1), and date the founder event responsible for this mutation in this population to approximately 2250 years ago (95% confidence interval [CI]: 1750-3025 years). Ten of the 23 patients who underwent hematopoietic stem cell transplantation (HSCT) were cured, with the recovery of almost normal immune functions. Five of the patients from this cohort who did not undergo HSCT had a poor prognosis and eventually died (at ages of 1-17 years). However, 7 patients who did not undergo HSCT (at ages of 6-32 years) are still alive on Ig treatment and antibiotic prophylaxis. RFXANK deficiency is a severe, often fatal CID for which HSCT is the only curative treatment. However, some patients may survive for relatively long periods if multiple prophylactic measures are implemented.
Asunto(s)
Efecto Fundador , Genes MHC Clase II , Mutación , Inmunodeficiencia Combinada Grave/genética , Factores de Transcripción/genética , Adolescente , África del Norte , Presentación de Antígeno/genética , Secuencia de Bases , Niño , Preescolar , Análisis Mutacional de ADN , Proteínas de Unión al ADN , Femenino , Enfermedades Gastrointestinales/etiología , Expresión Génica , Genes Recesivos , Trasplante de Células Madre Hematopoyéticas , Antígenos de Histocompatibilidad Clase II/genética , Antígenos de Histocompatibilidad Clase II/metabolismo , Humanos , Lactante , Recién Nacido , Hepatopatías/etiología , Masculino , Infecciones del Sistema Respiratorio/etiología , Eliminación de Secuencia , Inmunodeficiencia Combinada Grave/complicaciones , Inmunodeficiencia Combinada Grave/inmunología , Inmunodeficiencia Combinada Grave/terapia , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: During primary systemic vasculitides gastrointestinal (GI) involvement is associated with a poor outcome, leading to the use of immunosuppressive therapy. The significance of GI involvement during hepatitis C virus (HCV)-related systemic vasculitis has never been evaluated. OBJECTIVE: To evaluate the significance of GI involvement during HCV-related systemic vasculitis in the antiviral therapy era. METHODS: Data from 163 patients were retrospectively reviewed to describe the presentation and outcome of patients with HCV-related systemic vasculitis with GI involvement (GI+), and to compare them with patients without GI involvement (GI-). RESULTS: GI manifestations were present in 12 (7.4%) patients. Abdominal pain was consistently present in GI+ patients, and half of patients presented with surgical abdomen and/or intestinal bleeding. GI+ compared to GI- patients had more frequent renal (75% vs 30%; p=0.003) and cardiac involvement (25% vs 2%; p=0.006), medium-vessel vasculitis (67% vs 22%; p=0.003) and higher mixed cryoglobulinaemia levels (2.2 g/l vs 1.2 g/l; p=0.07). After treatment, GI+ and GI- patients had similar rates of overall clinical response of the vasculitis and immunological and virological responses. HCV-MC vasculitis patients with GI involvement did not have poorer overall survival than those without. CONCLUSION: GI involvement is a rare manifestation of HCV-related vasculitis, associated with acute-onset and life-threatening manifestations. In contrast with primary vasculitides, GI+ patients do not seem to have poorer overall survival than GI- patients.
