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1.
Expert Opin Emerg Drugs ; 29(2): 155-164, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38602142

RESUMEN

INTRODUCTION: Chronic lower back pain is a leading cause of disability and healthcare spending worldwide. Discogenic pain, pain originating from the intervertebral disk, is a common etiology of chronic lower back pain. Currently, accepted treatments for chronic discogenic pain focus only on the management of symptoms, such as pain. There are no approved treatments that stop or reverse degenerating intervertebral discs. Biologic therapies promoting disc regeneration have been developed to expand treatment options. VIADISC™ NP, is a viable disc allograft supplementation that, in a recent trial, demonstrated a significant reduction in pain and increased function in patients suffering from symptomatic degenerative disc disease. AREAS COVERED: This manuscript summarizes the epidemiology and etiology of low back pain, the pathophysiology of degenerative disc disease, current treatments, and a need for newer therapies. The rationale behind intradiscal biologics for the treatment of symptomatic degenerative disc disease is also discussed. EXPERT OPINION: Characterization of the biology leading to disc degeneration has allowed for the development of intradiscal biologics. They may soon be capable of preventing and reversing disc degeneration. Clinical trials have shown promise, but further research into efficacy and safety is needed before these therapies are widely employed.


Asunto(s)
Dolor Crónico , Degeneración del Disco Intervertebral , Dolor de la Región Lumbar , Humanos , Degeneración del Disco Intervertebral/fisiopatología , Dolor de la Región Lumbar/etiología , Dolor de la Región Lumbar/fisiopatología , Dolor de la Región Lumbar/tratamiento farmacológico , Dolor de la Región Lumbar/terapia , Dolor Crónico/tratamiento farmacológico , Dolor Crónico/fisiopatología , Dolor Crónico/etiología , Animales , Disco Intervertebral/fisiopatología , Disco Intervertebral/patología , Productos Biológicos/farmacología , Productos Biológicos/uso terapéutico , Productos Biológicos/administración & dosificación , Desarrollo de Medicamentos
2.
Am J Med Genet A ; 185(4): 1242-1246, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33438813

RESUMEN

At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones/intellectual disability (DDM/ID), left hemihypoplasia of her body with leg length discrepancy, left profound deafness due to inner ear malformation, telecanthus, dental anomalies mainly on the left side, congenital torticollis due to Klippel-Feil anomaly, 13 ribs, scoliosis, dislocation of the left hip, and distinctive left hand and feet. A blood karyotype at age 31/2 was normal. Silver-Russell syndrome was initially suspected; however, at age 4, a karyotype on skin fibroblasts showed a ring 13 chromosomal mosaicism, 46,XX,15s+/46,XX,-13,+r(13),15s+, with a higher frequency on the left side of the body. Since then, we have been involved in the management of this patient for 30 years. This has ultimately allowed us to compare her achievements with her normal monozygotic twin. In this long term follow-up, we want to emphasize the importance of: (a) early recognition of genetic syndromes, especially of mosaicisms, and of early intervention programs, (b) the involvement of different specialists in the management of patients with MCA, and (c) mentioning how familial and socioeconomic issues may limit or enhance the full potential of patients with some genetic disorders.


Asunto(s)
Enfermedades en Gemelos/genética , Retardo del Crecimiento Fetal/genética , Síndrome de Turner/genética , Preescolar , Cromosomas Humanos Par 13/genética , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/patología , Femenino , Retardo del Crecimiento Fetal/patología , Estudios de Seguimiento , Humanos , Recién Nacido , Cariotipo , Mosaicismo , Fenotipo , Cromosomas en Anillo , Síndrome de Turner/patología , Gemelos Monocigóticos/genética
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