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1.
Rev Neurol (Paris) ; 176(10): 846-855, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32709422

RESUMEN

BACKGROUND: Hereditary polyneuropathies are heterogeneous group of diseases of the peripheral nervous system. In this study, we investigated the demographic, clinical, electrophysiological, and genetic characteristics of hereditary polyneuropathy patients diagnosed and followed up in our tertiary center clinic in Izmir, Turkey. METHODS: Patients who were diagnosed with hereditary polyneuropathies during nerve conduction studies in our center were evaluated retrospectively. RESULTS: In a total of 1484 nerve conduction studies, 207 patients were diagnosed with polyneuropathy. Ninety-nine of those patients were determined to have hereditary polyneuropathy, 52 of which were male and 47 were female. Sixty-nine patients with hereditary polyneuropathy were compatible with axonal and 30 were compatible with demyelinating polyneuropathy. Genetic analysis was performed in 69 patients, and 49 of those patients were genetically diagnosed, leading to a diagnosis rate of 71%. CONCLUSIONS: Advances in genetics have led to an increase in the heterogeneity of hereditary polyneuropathies, causing difficulties in the use of existing classifications. Although typical mutations expected in childhood-onset polyneuropathies are seen less frequently, polyneuropathies are frequently encountered as findings of complex, multisystemic diseases.


Asunto(s)
Polineuropatías , Femenino , Pruebas Genéticas , Humanos , Masculino , Conducción Nerviosa , Examen Neurológico , Sistema Nervioso Periférico , Polineuropatías/genética , Estudios Retrospectivos
2.
Brain Dev ; 42(7): 539-545, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32389449

RESUMEN

BACKGROUND: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. CASE: Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. RESULTS: We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. CONCLUSION: Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.


Asunto(s)
Trastornos Congénitos de Glicosilación/complicaciones , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/genética , Dieta Cetogénica , Epilepsia Refractaria/dietoterapia , Manosiltransferasas/genética , Neoplasias del Sistema Nervioso Central/etiología , Anomalías Craneofaciales/etiología , Discapacidades del Desarrollo/etiología , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/etiología , Femenino , Hemangioma/etiología , Humanos , Lactante , Masculino , Gemelos , Secuenciación del Exoma
3.
J Biomed Mater Res B Appl Biomater ; 108(2): 377-390, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31037822

RESUMEN

Application of bioactive materials as synthetic bone graft substitutes in regenerative medicine has seen great evolution over the past decades in treating challengeable bone defects. However, balancing the preparation conditions and biological performances of inorganic biomaterials remain a great challenge, especially when there is lack of biomaterial design on how to control component distribution and how pathological bone responds to the biomaterial stimulations and osteogenesis. Here, our objective is to develop yolk-shell Ca-silicate microspheres and to investigate the potential biological performances to overcome the limitations in repair of osteoporotic bone defects. The introduction of ß-calcium silicate (CaSiO3 ) or mesoporous bioactive glass (MBG) into self-curing ß-dicalcium silicate (Ca2 SiO4 ) cement shell to form spherical granules (CaSiO3 @Ca2 SiO4 , MBG@Ca2 SiO4 ) was to retain the physicochemical property and/or microstructure of each component for optimizing bioactive ion release that could maximize osteostimulation in osteoporosis. We report a scalable shape-controlled mild fabrication protocol to yield the yolk-shell granules, endowing to different phases in yolk layer and interconnected macropore networks in the closely packed granule scaffolds. This unique heterostructure preparation is governed by coaxially aligned bilayer nozzle, inorganic powders and biocompatible binders. Extensive in vitro and in vivo evaluation showed that the CaSiO3 @Ca2 SiO4 and MBG@Ca2 SiO4 granules exhibited many superior properties such as controllable ion release, improved biodegradation and enhanced osteogenic capability in comparison with the pure Ca2 SiO4 @Ca2 SiO4 , thereby opening new mild-condition approach in fabricating osteogenesis-tailored silicate biomaterials for bone regenerative medicine, especially for efficient reconstruction of challenging pathological bone defects.


Asunto(s)
Materiales Biocompatibles/química , Cementos para Huesos/química , Compuestos de Calcio/química , Fémur/metabolismo , Silicatos/química , Andamios del Tejido/química , Animales , Materiales Biocompatibles/efectos adversos , Materiales Biocompatibles/metabolismo , Cementos para Huesos/efectos adversos , Cementos para Huesos/metabolismo , Regeneración Ósea , Huesos/cirugía , Compuestos de Boro/química , Compuestos de Calcio/metabolismo , Quitosano/química , Cobre/química , Femenino , Vidrio/química , Humanos , Fenómenos Mecánicos , Microesferas , Conformación Molecular , Osteogénesis , Porosidad , Implantación de Prótesis , Conejos , Silicatos/metabolismo , Relación Estructura-Actividad
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