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1.
Facial Plast Surg ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38547912

RESUMO

The aged neck is the most common motivator for patients seeking facial rejuvenation. Unlike the deflated midface, surgical treatment is still the gold standard for optimal outcomes. It is our view that the majority etiology of both the aged neck and deflated midface is gravity's effects on the superficial soft tissue envelope, leading to soft tissue redundancy. It is also our view that the deep-plane rhytidectomy is supported by anatomy, embryology, and clinical evidence as the best methodology to treat soft tissue redundancy without producing the aesthetic and longevity issues associated with superficial musculoaponeurotic system techniques. As one of the early pioneers in deep-plane rhytidectomy, the lead author will define contemporary advances in deep-plane technique such as dissection entry point, flap design, and flap fixation concepts that allow aggressive approach to treating both the aged neck and deflated midface.

2.
Spine (Phila Pa 1976) ; 44(22): 1564-1570, 2019 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-31689252

RESUMO

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: Evaluate the trends in management and inpatient outcomes in patients with syndromic scoliosis undergoing spinal deformity correction. SUMMARY OF BACKGROUND DATA: Syndromic scoliosis (SS) refers to scoliosis that is most commonly associated with systemic disease including Ehler Danhlos syndrome (EDS), Marfan syndrome (MF), Down syndrome (DS), Achondroplasia (AP), and Prader-Willi syndrome (PWS). Limited data exist evaluating hospital outcomes in patients with SS undergoing spinal deformity correction. METHODS: The Kids' Inpatient Database (KIDS) was queried from 2001 to 2012 to identify all pediatric patients with scoliosis undergoing spinal fusion. These patients were then sub-divided into two cohorts: (1) patients with idiopathic scoliosis (IS) and (2) patients with syndromic scoliosis. Trends in surgical management, and postoperative morbidity and mortality were assessed. Length of stay and total hospital charges were additionally analyzed. A sub-analysis to characterize outcomes in each syndrome was also performed. RESULTS: An estimated 1071 patients with SS were identified and compared with 24,989 pediatric patients with IS. MF (36.8%), Down syndrome (16.0%), and PWS (14.9%) were the most common diagnoses among patients with SS. Between 2001 and 2012, there was a significant decline in the number of anterior procedures performed in both cohorts. Conversely, the number of posterior based procedures increased. SS was associated with increased major complications (2.7% compared with 1.0% in IS; P < 0.001) and minor complication rates (41.0% compared with 28.5% in IS; P < 0.001). Patients with AP incurred the highest rate of major complications (10.7%), minor complications (60.8%), and intraoperative durotomies (6.1%). Total hospital charges increased significantly over the 12-year span. CONCLUSION: Trends in management of syndromic scoliosis have paralleled that of idiopathic scoliosis. Syndromic scoliosis is associated with increased risks with surgical deformity correction. Further prospective studies are warranted to evaluate the reasons for these differences. LEVEL OF EVIDENCE: 3.


Assuntos
Escoliose , Fusão Vertebral , Hospitalização , Humanos , Estudos Retrospectivos , Escoliose/epidemiologia , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Fusão Vertebral/estatística & dados numéricos , Resultado do Tratamento
3.
Hum Mol Genet ; 24(24): 6886-98, 2015 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-26385636

RESUMO

RNA dysregulation is a newly recognized disease mechanism in amyotrophic lateral sclerosis (ALS). Here we identify Drosophila fragile X mental retardation protein (dFMRP) as a robust genetic modifier of TDP-43-dependent toxicity in a Drosophila model of ALS. We find that dFMRP overexpression (dFMRP OE) mitigates TDP-43 dependent locomotor defects and reduced lifespan in Drosophila. TDP-43 and FMRP form a complex in flies and human cells. In motor neurons, TDP-43 expression increases the association of dFMRP with stress granules and colocalizes with polyA binding protein in a variant-dependent manner. Furthermore, dFMRP dosage modulates TDP-43 solubility and molecular mobility with overexpression of dFMRP resulting in a significant reduction of TDP-43 in the aggregate fraction. Polysome fractionation experiments indicate that dFMRP OE also relieves the translation inhibition of futsch mRNA, a TDP-43 target mRNA, which regulates neuromuscular synapse architecture. Restoration of futsch translation by dFMRP OE mitigates Futsch-dependent morphological phenotypes at the neuromuscular junction including synaptic size and presence of satellite boutons. Our data suggest a model whereby dFMRP is neuroprotective by remodeling TDP-43 containing RNA granules, reducing aggregation and restoring the translation of specific mRNAs in motor neurons.


Assuntos
Esclerose Lateral Amiotrófica/genética , Proteínas de Ligação a DNA/metabolismo , RNA Mensageiro/metabolismo , Esclerose Lateral Amiotrófica/metabolismo , Animais , Proteínas de Ligação a DNA/genética , Modelos Animais de Doenças , Proteínas de Drosophila/genética , Drosophila melanogaster , Proteína do X Frágil da Deficiência Intelectual , Técnicas de Silenciamento de Genes , Humanos , Proteínas Associadas aos Microtúbulos/genética , Junção Neuromuscular/metabolismo , Neurônios/metabolismo , Neurotoxinas/metabolismo , Fenótipo , Proteínas de Ligação a RNA/metabolismo , Solubilidade , Translocação Genética
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