Blog Archive

Αλέξανδρος Γ. Σφακιανάκης

Monday, February 7, 2022

Multiple spontaneous cerebrospinal fluid leaks: a rare case report and review of literature

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AME Case Rep. 2022 Jan 25;6:5. doi: 10.21037/acr-21-36. eCollection 2022.

ABSTRACT

While a spontaneous cerebrospinal fluid leak (sCSFL) is a rare phenomenon, patients who present with multiple cerebrospinal fluid leaks (mCSFLs) are an even rarer entity. There have been documented cases reported over the last decades, but many with only limited descriptions of each patient. We present a mCSFL patient as a case report and demonstrate the need for future prospective studies to improve further understanding and management of the condition. This is explored through summarizing the literature on mCSFLs to the present time. A 45-year-old obese female presented with a 5-week history of bilateral clear nasal discharge with no previous surgery or trauma. Initially misdiagnosed as allergic rhinitis, nasal discharge was later confirmed positive for beta-2-transferrin and a CT scan revealed multiple bony areas of skull base erosion. The patient underwent image guided endoscopic sinus surgery with multilayer skull base defect repair of three active CSFLs. Three months post-operatively the patient had no evidence of a recurrence. As mCSFL tend to be sporadic and asymptomatic in nature, it is likely they are underreported. Future prospective studies in the area of mCSFLs that take into consideration demographic and geographical information are needed for more accurate interpretation and better recruitment. Additionally, studies need to ensure longer follow-up time due to the underlying chronicity of increased intracranial pressure (ICP) and investigate whether or not a non-active leak site should be repaired or left alone.

PMID:35128313 | PMC:PMC8762381 | DOI:10.21037/acr-21-36

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A comparative analysis of associated injuries in the elderly and youth for facial fractures

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J Plast Reconstr Aesthet Surg. 2022 Jan 16:S1748-6815(22)00016-X. doi: 10.1016/j.bjps.2021.12.006. Online ahead of print.

ABSTRACT

INTRODUCTION: High-velocity and high-impact forces can yield life-threatening injuries that are not only limited to the face but can involve other regions of the body. Associated injuries are more frequent in the elderly impacting management and outcomes. The primary objective was to study the association between associated injuries and age groups by identifying epidemiological trends and differences among the elderly and younger population.

METHODS: A retrospective review was conducted from January 2012 to January 2017 at the Royal Adelaide Hospital, Adelaide. A comparative analysis for elderly and younger controls was assessed for associated injuries, etiology, management, and length of stay.

RESULTS: There were 355 elderly and 1884 younger controls for the study. There were differences betwee n gender, alcohol, socioeconomic status, type of facial fracture, mechanism of injury, and associated injuries (p<0.05). The elderly were 3.6 times more likely to have an associated injury compared to the younger cohort (p<0.05). Total limb injuries were 2.2 times more likely in the elderly compared to the younger cohort, and neurological related injuries were 2.7 times more likely (p<0.05). Neurological injuries were most frequent in fall-related injuries, limb injuries in RTA; and soft-tissue injuries for assault, sport, animal, and work (p<0.001). The elderly had longer hospital stays as compared with younger controls (p<0.05).

CONCLUSIONS: Associated injuries are more frequent in the elderly and impact other bodily systems leading to a longer length of stay. In the assessment and management of facial trauma, anatomical and disciplinary boundaries may cross requiring interdisciplinary care.

PMID:35125309 | DOI:10.1016/j.bjps.2021.12.006

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Eye manifestations in the NSUN2 intellectual disability syndrome

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Int J Mol Epidemiol Genet. 2021 Dec 15;12(6):129-134. eCollection 2021.

ABSTRACT

The NSUN2-intellectual disability syndrome is a rare disorder of the cellular transcriptome that prevents proper t-RNA splicing. This disorder interrupts cellular function and leads to an accumulation of RNA fragments, producing a constellation of symptoms including dysmorphic facies, hypotonia, microcephaly, and short stature. Eye manifestations have been reported but not well characterized. Our study presents a new case involving a 4-year-old boy with novel NSUN2 variants and clinical features consistent with the syndrome. In addition, through a systemic review, we discuss the 24 previously reported cases of the syndrome with an emphasis on the eye and ocular adnexa clinical features.

PMID:35126837 | PMC:PMC8784905

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Clinicopathological aspects of V-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutated non-small cell lung carcinoma in an Indian cohort: is there a difference?

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Int J Mol Epidemiol Genet. 2021 Dec 15;12(6):112-119. eCollection 2021.

ABSTRACT

INTRODUCTION: Activating mutations in the BRAF gene have been reported in 0.8%-8% cases of NSCLC. Traditionally, diagnostics have mainly focused on detection of V600E and modalities like mutation specific IHC, allele specific real-time PCR have been utilized. This may underestimate true prevalence of the non-V600E variants. Broader panel NGS testing offers a one stop solution and may identify newer potentially targetable variants. This is a retrospective single center experience of patients with BRAF mutated NSCLC characterizing the molecular spectrum and clinicopathologic characteristics.

METHODS: 260 patients underwent panel based NGS testing at our center, between 2017-2020. 13 BRAF mutant cases, were detected and were clinically reviewed.

RESULTS: Thirteen cases of BRAF alterations were seen in out of 260 (5%) patients. Median age of the co hort was 62 years (range: 39-86 years) with a female predilection). Canonical BRAF V600E mutation was seen in 6 (46.2%) patients and 7 (53.8%) harbored a non-V600E alteration. Spectrum of non V600E alterations included G466E, G469A, N581I, V600_K601delins, D594G, L597Q, G649V and were commonly female (P>0.01) with a higher trend for liver metastases (P=0.09). Median PFS was 4.8 months on chemotherapy (P=0.8). All patients (13/13, 100%) were never smokers with an adenocarcinoma histology.

CONCLUSION: This is a single center experience from an Indian NSCLC cohort and shows higher prevalence of non-V600E than V600E mutation reported in literature. This may be attributed to increased use of NGS testing revealing otherwise missed alterations on sequential single gene testing.

PMID:35126834 | PMC:PMC8784904

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Hipoacusia sensorioneural unilateral: Revisión de los manejos posibles en nuestra realidad nacional

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Resumen La hipoacusia unilateral (HUL) definida como la pérdida auditiva de cualquier grado en un solo oído tiene prevalencias en edad escolar de 3% a 6%. La etiología es desconocida en la mayoría de los casos, pero destacan las anormalidades anatómicas severas a diferencia de las hipoacusias bilaterales, lo que le otorga importancia al estudio de imágenes. También se recomienda realizar evaluación oftalmológica. El impacto de la HUL se observa en la localización sonora, reconocimiento del habla, desarrollo del lenguaje, desempeño social y conducta, pero por sobre todo en el rendimiento académico. En este sentido es relevante mencionar que además de existir mayor probabilidad de repitencia de curso, es necesario mayor apoyo educacional individualizado para evitar dicha repitencia o lograr mismo éxito académico que un normoyente. En relación al diagnóstico aún faltan normas o protocolos, siendo éste un desafío en las zonas donde no hay screening universal. Se discute la importancia de las encuestas para realizar evaluaciones y seguimiento en estos casos. Finalmente se abordan las estrategias de intervención disponibles, además de un plan individualizado considerando al niño, su familia y sus expectativas, particularmente se discuten las características o factores a tomar en cuenta en el momento de la adaptación, para así lograr un tratamiento tendiente al éxito.
Abstract Unilateral hearing loss (UHL) defined as hearing loss of any degree in only one ear has a school-age prevalence of 3% to 6%. The etiology is unknown in most cases, but severe anatomical abnormalities stand out as opposed to bilateral hearing loss, which gives importance to the study of images. Ophthalmological evaluation is also recommended. The impact of UHL is observed in sound localization, speech recognition, language development, social performance and behavior, but above all in academic performance. In this sense, it is relevant to mention that in additi on to having a higher probability of repeating the course, it is necessary to have more individualized educational support to avoid this repetition or achieve the same academic success as a normal listener. Regarding the diagnosis, there are still missing norms or protocols, this being a challenge in areas where there is no universal screening. The importance of surveys to carry out evaluations and follow-up in these cases is discussed. Finally, the available intervention strategies are discussed, in addition to an individualized plan considering the child, his family and his expectations, particularly, the factors to be taken into account at the time of adaptation, in order to achieve a success treatment.
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Revisión narrativa de instrumentos de autoevaluación vocal en Chile

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Resumen Los sujetos disfónicos no siempre presentan una adecuada percepción de su voz o de cómo las alteraciones vocales afectan a su entorno, modificando su calidad de vida. Los protocolos de auto evaluación vocal ayudan al clínico a percibir si el paciente disfónico se siente afectado por sus problemas vocales o no. Existen numerosos protocolos de auto evaluación vocal, sin embargo, pocos de estos están actualmente validados en Chile. Este trabajo corresponde a una revisión narrativa respecto de la validación de instrumentos de autoevaluación vocal en Chile. Se llevó a cabo una búsqueda bibliográfica en: Pubmed, Scielo y Bireme. Fueron empleados los siguientes descriptores: Chile, voz, autoevaluación, calidad de vida, estudios de validación, comparación transcultural y sus respectivos términos en inglés: Chile, voice, validation study, self-assessment, quality of life, crosscultural comparision. Dos restricciones fueron empleadas: las investigaciones debía n estar publicadas en inglés y/o español, con fecha de publicación entre 2008 y 2020. Se encontraron 41 artículos, eliminándose 24 duplicados y 13 de contenidos no relacionados, resultando en 4 artículos analizados correspondientes a 3 instrumentos traducidos al español. El uso de protocolos de autoevaluación vocal complementa la evaluación clínica y objetiva de la voz, contribuyendo con la percepción del paciente, relevante para el tratamiento fonoaudiológico, sin embargo, la cantidad de protocolos de autoevaluación vocal en Chile con traducción, adaptación cultural y validación estandarizada continúa siendo escasa.
Abstract Dysphonic subjects do not always present an adequate perception of their voice, or of how vocal alterations affect their environment, modifying their quality of life. Vocal self-as-sessment protocols help the clinician to perceive whether the dysphonic patient feels affected by his vocal problems or not. There are numerous protocols for voca l self-assessment, however, few of these are currently validated in Chile. This work corresponds to a narrative review regarding the validation of vocal self-assessment instruments in Chile. The bibliographic search was conducted in the search sites: Pubmed, Scielo and Bireme. The following descriptors were used: Chile, voice, validation studies, cross-cultural comparison. Two restrictions were used: the research had to be published in English and/or Spanish, with a publication date between 2008 and 2020. A total of 41 articles were found, eliminating 24 duplicates and 13 of unrelated content, resulting in 4 articles analyzed corresponding to 3 instruments translated into Spanish. The use of vocal self-assessment protocols complements the clinical and objective assessment of the voice, contributing to the perception of the patient, relevant for speech therapy, however, the number of vocal self-assessment protocols in Chile with translation, cultural adaptation and standardized valid ation remains sparse.
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Indicadores de calidad en la atención de salud en cirugía oncológica de cabeza y cuello

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Resumen La mayoría de los servicios de salud han experimentado un aumento de los costos asociados a la atención de salud lo que ha llevado a adoptar medidas para optimizar la costo-efectividad de los servicios otorgados. Desde esa perspectiva surge la atención de salud basada en el valor. El concepto de "calidad en la atención de salud" se ha definido como el grado en el cual los servicios de salud aumentan la posibilidad de generar ciertos desenlaces en salud a los que se aspira. Los indicadores de calidad de clasifican en indicadores de estructura, de proceso, y de desenlace. Los indicadores de estructura se refieren a las características del sistema de salud o de la institución hospitalaria. Los indicadores de proceso se refieren a los que el proveedor de servicios de salud realiza para el proceso de atención en salud, mientras que los indicadores de desenlace se refieren a los resultados del proceso en el paciente. El objetivo de la presente revisión es proveer un marco conceptual para dar un contexto al concepto de indicadores de calidad en salud y el rol que estos juegan en cirugía oncológica de cabeza y cuello. Se debe aspirar a lograr un mayor cumplimiento de los indicadores de calidad en cirugía oncológica de cabeza y cuello, especialmente en instituciones terciarias de referencia. Aplicar indicadores de calidad en el manejo oncológico en cabeza y cuello permitiría mejorar tanto la percepción y satisfacción del usuario, como también mejorar resultados oncológicos en estos pacientes.
Abstract Most health services have experienced an increase in the costs associated with health care, which has led to the adoption of measures to optimize the cost-effectiveness of the services provided. From this perspective, the concept of value-based health care emerged. The concept of "quality in health care" has been defined as the degree to which health services increase the possibility of generating certain desired health outcomes. Quality indicators are classified into structure, process, and outcome indicators. The structure indicators refer to the characteristics of the health system or the hospital institution. Process indicators refer to those that the health service provider performs for the health care process, while outcome indicators refer to the results of the process in the patient. The objective of this review is to provide a conceptual framework to give a context to the concept of health quality indicators and the role they play in head and neck surgical oncology. The system should aspire to achieve greater compliance with quality indicators in head and neck cancer surgery, especially in referral tertiary institutions. Applying quality indicators in head and neck cancer management would improve both user perception and satisfaction, as well as improve oncological results in these patients.
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