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INTRODUCTION: Cervical disease control might be challenging in advanced thyroid cancer (DTC). Indications for cervical external beam radiation therapy (EBRT) are controversial. PURPOSE: To identify clinical and molecular factors associated with control of cervical disease with EBRT. METHODS: Retrospective evaluation and molecular analysis of the primary tumor DTC patients who underwent cervical EBRT between 1995 and 2022 was performed. RESULTS: Eighty adults, median age of 61 years, were included. T4 disease was present in 43.7%, lymph node involvement in 42.5%, and distant metastasis in 47.5%. Those with cervical progression were older (62.5 vs. 57.3, p = 0.04) with more nodes affected (12.1 vs. 2.8, p = 0.04) and had EBRT performed later following surgery (76.6 vs. 64 months, p = 0.05). EBRT associated with multikinase inhibitors showed longer overall survival than EBRT alone (64.3 vs. 37.9, p = 0.018) and better local disease control. Performing EBRT before radioiodine (RAI) was associated with longer cervical progression-free survival (CPFS) than was RAI before (67.5 vs. 34.5, p < 0.01). EBRT ≥2 years after surgery was associated with worse CPFS (4.9 vs. 34, p = 0.04). The most common molecular alterations were ERBB2, BRAF, FAT1, RET and ROS1 and TERT mutation was predictive of worse disease control after EBRT (p = 0.04). CONCLUSION: Younger patients, with fewer affected nodes and treated earlier after surgery had better cervical disease control. Combination of EBRT with MKI improved OS. TERT mutation might indicate worse responders to EBRT; however, further studies are necessary to clarify the role of molecular testing in selecting candidates for cervical EBRT.

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INTRODUCTION: Cervical disc arthroplasty (CDA) was developed to decrease the rate of symptomatic adjacent-level disease while preserving motion in the cervical spine. METHODS: The objectives of this paper are to provide criteria for proper patient selection as well as to present a comprehensive literature review of the current evidence for CDA, including randomized studies, the most recent meta-analysis findings, and long-term follow-up clinical trials as well. RESULTS: Currently, there are several prospective randomized controlled studies of level I of evidence attesting to the safety and efficacy of CDA in the management of cervical spondylotic disease (CSD) for one- or two-level degenerative diseases. These as well as recent meta-analyses suggest that CDA is potentially similar or even superior to anterior cervical discectomy and fusion (ACDF) when considering several outcomes, including dysphagia and re-operation rate over medium-term follow-up. Less robust studies have also reported satisfactory clinical and radiological outcomes of CDA for hybrid procedures (ACDF combined with CDA), non-contiguous disease, and even for multilevel disease (more than 2 levels). CONCLUSIONS: Based on this evidence we conclude that CDA is a safe and effective alternative to ACDF in properly selected patients for one- or two-level diseases. Defining superiority of specific implants and detailing optimal surgical indications will require further well-designed long-term studies.

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ABSTRACT Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor is believed to be its cause. This is the first time this orphan disease is reported in Latin America, so the publishing of this report is expected to raise awareness on these types of syndrome, that are usually underdiagnosed in our region, which in turn causes an increase in the years lost to disability (YLDs) rates, as well as higher costs to be assumed by public health systems. Methods A 36-year-old Colombian woman diagnosed with parathyroid gland agenesis was referred from the Endocrinology Service to the Outpatient Service. According to her medical record, in the past she had developed hypocalcaemia, left renal agenesis, hypoparathyroidism, bicornate uterus and sensorineural hearing loss. Through a genetic analysis a pathological mutation on the short arm of the GATA 3 gen (c.404dupC, p Ala136 GlyfsTER 167) was confirmed, which led to a HDR syndrome diagnosis. Discussion This case proves that there is a possibility that mutations described in other continents may be developed by individuals from our region. Regardless of ethnicity, Barakat syndrome should be considered as a possible diagnosis in patients presenting the typical triad that has been described for this condition, since there could be underdiagnosis of this disease in Latin-America due to the lack of knowledge on this condition in said region, and that genetic counseling in these patients is of great importance for the implications of the syndrome in future generations.(AU)

RESUMEN Objetivos El síndrome de hipoparatiroidismo, sordera neurosensorial y displasia renal (HDR) también llamado síndrome de Barakat, es una enfermedad hereditaria de transmisión autosómica dominante con amplia penetrancia y expresividad genética. El síndrome es causado por la haploinsuficiencia del factor de transcripción de dedos de Zinc GATA3. Esta es la primera vez que esta enfermedad huérfana es reportada en latinoamerica, y buscamos generar consciencia de la presencia de estas enfermedades, las cuales usualmente son infradiagnósticadas en nuestro medio y llevan a un aumento de años perdidos por discapacidad y costos para el sistema de salud pública. Métodos Una mujer colombiana de 36 años ingresó a consulta externa de genética referida por el servicio de endocrinología por una agenesia de paratiroides. La paciente tenía antecedentes de hipocalcemia, agenesia renal izquierda, hipoparatiroidismo, sordera neurosensorial y útero bicorneo. Se realizó un análisis genético que confirmo una mutación patológica en el brazo corto del gen GATA3 (c.404dupC, p Ala136 GlyfsTER 167) diagnóstica del síndrome de Barakat. Discusión Este caso demuestra la posibilidad de existencia de mutaciones descritas en otros continentes en nuestra población. Sin importar la etnia, el síndrome de Barakat debe ser estudiado en pacientes que presenten la triada típica, ya que podría existir un infra diagnóstico de la enfermedad secundario al desconocimiento de la misma en Latinoamérica y teniendo en cuenta la importancia que tiene la consejería genética en estos pacientes por las implicaciones de la enfermedad en futuras generaciones.(AU)

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Introducción: el cáncer cérvicouterino (CCU) es la segunda neoplasia maligna más frecuente en mujeres. Objetivo: determinar el comportamiento de las lesiones intraepiteliales cervicales de alto grado. Métodos: se realizó una investigación cuantitativa y cualitativa de tipo descriptivo transversal de las pacientes atendidas en la consulta de patología de cuello del Hospital Universitario "Mártires del 9 de Abril" de Sagua la Grande, en el período comprendido entre enero y diciembre de 2011. El universo estuvo constituido por 158 mujeres que asistieron a consulta con citología alterada, la muestra fue de 70 mujeres con diagnóstico de lesión de alto grado. Se revisaron las historias clínicas, tarjetas de citodiagnóstico y se entrevistaron las pacientes, se confeccionó la base de datos. Resultados: la edad más frecuente fue 25-44 años. El 67,1 % inició su vida sexual entre los 16 y 20 años. Existió una relación directa entre la infección por el VPH y la aparición de las lesiones intraepiteliales cervicales, dado que en 53 pacientes (72,6 %) existió el hallazgo citológico del VPH. Hubo una correspondencia adecuada entre los resultados de la biopsia por ponchamiento y la biopsia por cono. En cuanto al tratamiento definitivo, a 53 pacientes se les realizó cono por bisturí frío y solo a 9 histerectomía total. Conclusiones: una de cada 10 pacientes afectada por una lesión de alto riesgo es menor de 25 años. A mayor tiempo transcurrido desde el inicio de las relaciones sexuales se incrementa la aparición de lesiones de alto grado.

Introduction: cervical cancer (CCU) is the second most common malignancy in women. Objective: to determine the behavior of high grade cervical intraepithelial lesions. Methods: a quantitative and qualitative cross descriptive study was conducted in patients treated in the cervix pathology service at the University Hospital Mártires del 9 de Abril , Sagua la Grande, from January to December 2011. The universe of our study consisted of 158 women who were assisted at consultation with abnormal cytology; the sample was 70 women diagnosed with high-grade lesion. We reviewed the medical records, greeting cytodiagnosis and interviewed the patients. Data were entered in a database. Results: the most common age was 25-44 years. 67.1 % started their sexual life between 16-20 years old. There was a direct relationship between HPV infection and the development of cervical intraepithelial lesions, since 53 patients (72.6 %) showed HPV cytologic finding. There was a suitable correspondence between the results of punch biopsy and cone biopsy. As for the definitive treatment, 53 patients underwent cold blade cone and only 9 underwent total hysterectomy. Conclusions: one in 10 patients affected by high-risk injury is younger than 25 years. A longer time since the onset of sexual intercourse increases the appearance of high-grade lesions.