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1.
Eur Arch Otorhinolaryngol ; 272(10): 2815-23, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25261104

RESUMEN

Roles of vitamin D on the immune and nervous systems are increasingly recognized. Two previous studies demonstrated that ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3) induced functional recovery and increased myelination in a rat model of peroneal nerve transection. The current report assessed whether cholecalciferol was efficient in repairing transected rabbit facial nerves. Animals were randomized into two groups of rabbits with an unilateral facial nerve surgery: the vitamin D group included animals receiving a weekly oral bolus of vitamin D3 (200 IU/kg/day), from day 1 post-surgery; the control group included animals receiving a weekly oral bolus of vehicle (triglycerides). Contralateral unsectioned facial nerves from all experimental animals were used as controls for the histological study. The facial functional index was measured every week while the inner diameter of myelin sheath and the G ratio were quantified at the end of the 3 month experiment. The current report indicates that cholecalciferol significantly increases functional recovery and myelination, after 12 weeks of treatment. To the best of our knowledge, this is the first study investigating the therapeutic benefit of vitamin D supplementation in an animal model of facial paralysis. It paves further the way for clinical trials based on the administration of this steroid in individuals with injured facial nerves.


Asunto(s)
Colecalciferol/farmacología , Suplementos Dietéticos , Traumatismos del Nervio Facial/tratamiento farmacológico , Fibras Nerviosas Mielínicas/efectos de los fármacos , Recuperación de la Función/fisiología , Animales , Modelos Animales de Enfermedad , Traumatismos del Nervio Facial/fisiopatología , Masculino , Conejos , Vitaminas/farmacología
2.
Ann Hum Genet ; 77(4): 336-43, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23550889

RESUMEN

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet, and loss of deep tendon reflexes. CMT4H is an autosomal recessive demyelinating subtype of CMT, due to mutations in FGD4/FRABIN, for which nine mutations are described to date. In this study, we describe three patients from a consanguineous Tunisian family, presenting with severe, early onset, slowly progressive, autosomal recessive demyelinating CMT, complicated by mild to severe kyphoscoliosis, consistent with CMT4H. In these patients, we report the identification of a novel homozygous frameshift mutation in FGD4: c.514_515insG; p.Ala172Glyfs*27. Our study reports the first mutation identified in FGD4 in Tunisian patients affected with CMT. It further confirms the important clinical heterogeneity observed in patients with mutations in FGD4 and the lack of phenotype/genotype correlations in CMT4H. Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent. In Tunisians, as in other populations with high consanguinity rates, screening of genes responsible for rare autosomal recessive CMT subtypes should be prioritized.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Consanguinidad , Proteínas de Microfilamentos/genética , Mutación , Adolescente , Biopsia , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Fibras Nerviosas Mielínicas/patología , Linaje , Fenotipo , Túnez , Adulto Joven
3.
Cardiovasc Revasc Med ; 21(2): 195-199, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31727585

RESUMEN

PURPOSE: Evaluation of reendothelialization with a new thin struts cobalt chromium alloy stent coated with a nano-layer of Polyzene™-F (PzF) in a rabbit iliac artery model. METHODS: Fifteen stented external rabbit iliac arteries were harvested at Day 7 for electron microscopy analysis following Cobra PzF stents implantation to assess reendothelialization and compare to historical data. Ten additional rabbits were used to assess time course of reendothelialization at 3 and 5 days. RESULTS: At Day 7, almost complete coverage of endothelial cells was observed with a coverage of 99.54 ±â€¯0.25% of the stented area. No thrombus area was noted. At Day 3, more than half of examined pieces was reendothelialized and reached 78.30 ±â€¯3.7% at Day 5 (p < .01 between each group). All stents were well expanded against the arterial wall and no struts were mal-apposed. CONCLUSIONS: Reendothelialization was rapid and complete at Day 7. This is the fastest reendothelization process after stenting in this model. No stent occlusion was observed.


Asunto(s)
Angioplastia de Balón/instrumentación , Materiales Biocompatibles Revestidos , Células Endoteliales/ultraestructura , Arteria Ilíaca/ultraestructura , Compuestos Organofosforados/química , Polímeros/química , Repitelización , Stents , Animales , Aleaciones de Cromo , Masculino , Modelos Animales , Nanopartículas , Diseño de Prótesis , Conejos , Factores de Tiempo
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