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1.
J Craniofac Surg ; 30(2): 429-432, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30640849

RESUMEN

BACKGROUND: A longstanding dictum exists to avoid surgical manipulation of the temporalis muscle out of concern for an exceedingly high rate of muscle atrophy and recurrent temporal hollowing. The authors challenge this surgical myth, considering such advice to be erroneous. The authors hypothesize that elevation of the temporalis muscle, if performed using standard muscle flap principles, will demonstrate excellent results. METHODS: To assess temporalis response to surgical manipulation, the authors reviewed patients who underwent calvarial vault remodeling by the senior author for craniosynostosis between 1988 and 2011. Nonsyndromic patients with single-suture synostosis and 5 years of follow-up were eligible for inclusion. The medical record was used to measure rates of reoperation, recurrent temporal hollowing, and persistent temporalis overcorrection. RESULTS: Of the cohort reviewed, 196 patients met inclusion criteria. Ten patients (5.1%) exhibited recurrent bitemporal constriction. One patient (0.5%) underwent a revision temporalis turnover flap, and 2 patients (1.0%) underwent soft tissue augmentation. The overall reoperation rate was 1.5%. Temporalis overcorrection, in an attempt to prophylactically rectify the expected atrophy after temporalis manipulation, persisted in 11 patients (5.6%). Three of these patients required treatment with steroid injections, Botox injections, or operative muscle debulking. The overall reoperation rate for temporalis overcorrection was 1.5%. CONCLUSIONS: The authors' low reoperation rates for recurrent deformity, in combination with persistent temporalis overcorrection in 5.6% of patients, should dispel the myth that manipulation of the temporalis invariably results in atrophy. The muscle may be surgically manipulated, as long as plastic surgery principles are followed.


Asunto(s)
Craneosinostosis/cirugía , Atrofia Muscular , Procedimientos de Cirugía Plástica , Complicaciones Posoperatorias , Reoperación , Músculo Temporal , Femenino , Humanos , Masculino , Persona de Mediana Edad , Atrofia Muscular/etiología , Atrofia Muscular/cirugía , Evaluación de Procesos y Resultados en Atención de Salud , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/patología , Complicaciones Posoperatorias/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Procedimientos de Cirugía Plástica/métodos , Reoperación/métodos , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Colgajos Quirúrgicos/cirugía , Músculo Temporal/patología , Músculo Temporal/cirugía
2.
J Clin Endocrinol Metab ; 103(10): 3869-3876, 2018 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-30085035

RESUMEN

Context: Somatic mutations have been identified in more than half of aldosterone-producing adenomas (APAs) through mutation hotspot sequencing. The underlying pathogenesis of inappropriate aldosterone synthesis in the remaining population is still unknown. Objective: To investigate the prevalence and spectrum of somatic mutations in APAs using an aldosterone synthase (CYP11B2) immunohistochemistry (IHC)‒guided next-generation sequencing (NGS) approach. Methods: Formalin-fixed paraffin-embedded adrenal tissue from white American patients with primary aldosteronism who underwent adrenalectomy at the University of Michigan was used. Genomic DNA was isolated from 75 APAs (identified by CYP11B2 IHC). NGS was performed to identify somatic mutations by sequencing the entire coding region of a panel of genes mutated in APAs. Results: Somatic mutations were identified in 66 of 75 APAs (88%). Of the APAs with somatic mutations, six were smaller than coexisting CYP11B2-negative adrenocortical adenomas. The most frequently mutated gene was KCNJ5 (43%), followed by CACNA1D (21%), ATP1A1 (17%), ATP2B3 (4%), and CTNNB1 (3%). In addition to identification of previously reported mutations, we identified five previously unreported mutations (two in KCNJ5, one in ATP1A1, one in ATP2B3, and one in CACNA1D genes). KCNJ5 mutations were more frequent in women (70% vs 24% in men). Conclusion: Comprehensive NGS of CYP11B2-expressing adrenal tumors identified somatic mutations in aldosterone-driving genes in 88% of APAs, a higher rate than in previous studies using conventional approaches.


Asunto(s)
Neoplasias de la Corteza Suprarrenal/genética , Adenoma Corticosuprarrenal/genética , Aldosterona/biosíntesis , Mutación , Neoplasias de la Corteza Suprarrenal/metabolismo , Neoplasias de la Corteza Suprarrenal/patología , Neoplasias de la Corteza Suprarrenal/cirugía , Adrenalectomía , Adenoma Corticosuprarrenal/metabolismo , Adenoma Corticosuprarrenal/patología , Adenoma Corticosuprarrenal/cirugía , Adulto , Canales de Calcio Tipo L/genética , Citocromo P-450 CYP11B2/genética , Citocromo P-450 CYP11B2/metabolismo , Femenino , Canales de Potasio Rectificados Internamente Asociados a la Proteína G/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Persona de Mediana Edad , ATPasas Transportadoras de Calcio de la Membrana Plasmática/genética , ATPasa Intercambiadora de Sodio-Potasio/genética
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