Telerehabilitación respiratoria en fibrosis quística: experiencia de pacientes, padres y profesionales durante la pandemia de COVID-19. Estudio cualitativo

Introducción: la rehabilitación respiratoria (RR) se recomienda en pacientes con fibrosis quística (FQ). Durante la pandemia de COVID-19 los programas de RR debieron cerrarse o migrar a modalidades de telerehabilitación, imponiendo nuevos desafíos a pacientes y equipos de salud. El objetivo de este estudio fue explorar las percepciones de pacientes, padres y profesionales sobre la transición a la telerehabilitación respiratoria durante la pandemia de COVID-19. Método: estudio cualitativo. Se consideraron pacientes con FQ mayores de 8 años. También a padres y equipos de salud. El tamaño muestral se determinó mediante saturación teórica. Se realizaron entrevistas semiestructuradas y grupos focales vía Zoom. El análisis de datos se realizó mediante los métodos de codificación abierta y axial. El análisis se realizó utilizando el software Atlas. Ti 7.5.7. Resultados: se incluyó a 4 pacientes adultos, 1 pediátrico y 2 padres, además de 4 profesionales de equipos de salud. Existió una percepción general positiva respecto a la RR y la telerehabilitación. Entre las barreras destacó la falta de equipamiento para la telerehabilitación en domicilio y la organización diaria de los pacientes. Entre los facilitadores destacó la disponibilidad de equipos y redes que permitieran la conectividad y el apoyo familiar. Existió una valoración positiva hacia la continuidad de la telerehabilitación en la etapa post pandémica. Conclusiones: la telerehabilitación fue percibida como una alternativa viable y efectiva, sin embargo, aspectos de la conectividad, disponibilidad de equipamiento y la rutina diaria de los pacientes debe ser considerada a la hora de implementar modalidades telemáticas de atención.

Introduction: Pulmonary rehabilitation (PR) is recommended in patients with Cystic Fibrosis (CF). During the COVID-19 pandemic, PR programs had to migrate to telerehabilitation modalities, imposing new challenges for patients and health teams. The objective of this study was to explore the perceptions of patients, parents, and professionals regarding the transition to respiratory telerehabilitation experienced during the COVID-19 pandemic. Method: Qualitative study. Parents and health teams were included in the case of patients with CF over eight years old. Theoretical saturation determined the sample size. Semi-structured interviews and focus groups were conducted using the Zoom platform. Data analysis was carried out using open and axial coding methods. The analysis was performed using Atlas Ti software 7.5.7. Results: Four adult patients, one pediatric patient, two parents, and four health team professionals entered the study. There was a positive perception regarding PR and telerehabilitation. Among the barriers, the lack of equipment for telerehabilitation at home and the daily organization of patients stood out. Among the facilitators, the availability of equipment and networks that allowed connectivity and family support stood out. Patients rated the continuity of telerehabilitation in the post-pandemic stage positively. Conclusions: Telerehabilitation was perceived as a viable and effective alternative; however, aspects related to connectivity, availability of equipment, and the daily routine of patients must be considered when implementing telematics care modalities.

Lesión pancreática que esconde una transformación quística acinar

Objetivo: La transformación quística acinar del páncreas es una patología poco frecuente y que afecta en su mayoría a mujeres de mediana edad. Material y Métodos: Presentamos el caso de dicha patología en un varón joven que debutó con dolor en hipocondrio izquierdo y en la pruebas de imagen se evidenció una lesión quística en cola pancreática de 50x45mm, con calcificaciones lineales. Se realizó pancreatectomía distal. Resultados: El diagnóstico anatomopatológico informó de transformación quística acinar. Discusión: Dada la dificultad de un diagnóstico preoperatorio, es frecuente someter al paciente a una intervención quirúrgica con una elevada morbilidad, a pesar de tratarse de una lesión benigna, ya que se siguen las indicaciones quirúrgicas para otras patologías quísticas pancreáticas. La presencia de mutaciones y el hecho de que algunos de ellos también presentan cambios epiteliales mucinosos, justificaría el debatir la posibilidad de mantener a estos pacientes bajo vigilancia a largo plazo.

Objective: Acinar cystic transformation of the pancreas is a rare pathology that affects mostly middle-aged women. Material and Methods: We present a case of this pathology in a young man who presented with pain in the left hypochondrium and imaging tests revealed a cystic lesion in the pancreatic tail measuring 50x45mm, with linear calcifications. Distal pancreatectomy was performed. Results: The anatomopatho-logical diagnosis was acinar cystic transformation. Discussion: given the difficulty of a preoperative diagnosis, the patient is often subjected to surgery with high morbidity, despite being a benign lesion, as surgical indications for other pancreatic cystic pathologies are followed. The presence of mutations and the fact that some of them also present mucinous epithelial changes would justify discussing the possibility of keeping these patients under long-term surveillance.

Linfangioma Quístico del Páncreas. Un Tumor poco Frecuente / Pancreas Cystic Lymphangioma. A Rare Tumor

El linfangioma quístico del páncreas (LQP), es un tumor extremadamente raro y representa solo el 1% de los linfangiomas abdominales. El objetivo de este manuscrito fue reportar un caso de LQP intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas, terapéuticas y pronósticas. Mujer de 67 años, con LQP operada en Clínica RedSalud Mayor Temuco en septiembre de 2023. Se verificó un tumor sólido-quístico de 16 cm de diámetro mayor, adherido al páncreas a nivel del cuerpo de la glándula, de 867 gramos de peso, con líquido amarillento en su interior; la que fue extirpada completamente. Después del estudio histológico, se realizaron tinciones inmunohistoquímicas complementarias para CD31, D2-40 y calretina. La paciente tuvo un curso postoperatorio sin incidentes, siendo dado de alta al tercer día postoperatorio. En el control alejado, se encontraba en buenas condiciones generales. El LQP es un tumor muy poco frecuente. Las características clínicas e imágenes de este tipo de lesiones son inespecíficas. Debe considerarse en el diagnóstico diferencial de las lesiones quísticas pancreáticas. La resección quirúrgica completa con márgenes libres es el tratamiento de elección; y el pronóstico del LQP es favorable si se reseca por completo.

SUMMARY: Pancreas cystic lymphangioma (PCL) are extremely rare, accounting for only 1% of abdominal lymphangiomas. The aim of this study was to report a rare case of PCL, who underwent surgery; and review the existing evidence regarding its morphological, therapeutic and prognostic characteristics. 67-year-woman patient with PCL who underwent surgery at Clínica RedSalud Mayor Temuco in September 2023. In this case, a solid-cystic tumor with a major diameter of 16 cm was identified, adhering to the pancreas at the level of the body of the gland, weighing 867 grams and containing yellowish fluid in its interior. The tumor was completely excised. Subsequent to histological examination, additional immunohistochemical staining was performed for CD31, D2-40, and calretinin. The patient experienced an uneventful postoperative course and was discharged on the third postoperative day. During the follow-up, the patient remains in good general condition. LQP is a very rare tumor. Clinical features and images of this type of lesions are nonspecific. It should be considered in the differential diagnosis of pancreatic cystic lesions. Complete surgical resection with free margins is the treatment of choice; and the prognosis of LQP is favorable if it is completely resected.

Periradicular and Peri-Implant Lesions Associated with Apical Impact of Osseointegrated Implants in Tooth Roots: Clinical Case Reports

This clinical case report aims to describe the development of periradicular and perimplant cystic lesions resulted from the intimate contact of the apical region of osseointegrated implants of dental roots, and discuss the reasons fo r failure of the guided bone regeneration procedure associated with platelet rich fibrin and leukocytes, this process was used to the treatment of the first case. Case Reports. Three cases were reported, two cases described the close contact between the tooth roots and the osseointegrated implants and another with a distance of 1.08 mm. All cases realized a radiographic, and they had not periapical lesions before contact with the apical region of the osseointegrated implants on the roots of the teeth. In the case with the largest cystic extension, the procedure was: removal of the osseointegrated implant with apicectomy of the neighboring teeth, excisional biopsy of the lesion, and grafting using the technique of guided bone regeneration associated with L-PRF. All three cases, endodontic treatment was performed on the neighboring teeth within 2 years of survival of the osseointegrated implants in order to reverse the existing lesion. Results. The diagnostic hypothesis of the three cases was periradicular and peri-implant lesion, arising from a contact of the apical region of the osseointegrated implant with the adja cent tooth. The distance of 1.08 mm between the apices did not ensure normality of the periradicular and peri-implant tissues. The intimate contact caused lesions of different extents and root fractures. Conclusion. Premature contact of the osseointegrated implant with the root region of the neighboring tooth may lead to the development of periradicular and peri-implant lesions, suggesting that it is not possible to control this infectious process with endodontic treatment of the injured tooth.

Este reporte de caso clínico tuvo como objetivo describir el desarrollo de lesiones quísticas perirradiculares y periimplantarias resultantes del contacto íntimo de la región apical de implantes osteointegrados de raíces dentales, y además discutir las razones del fracaso del procedimiento de regeneración ósea guiada asociado a fibrina rica en plaquetas y leucocitos. Este proceso se utilizó para el tratamiento del primer caso. Se reportaron tres casos, en dos casos se describieron el estrecho contacto entre las raíces de los dientes y los implantes osteointegrados y en el otro se determinó una distancia de 1,08 mm. En los tres casos se realizó una radiografía y se determinó que no existían lesiones periapicales, antes del contacto con la región apical de los implantes osteointegrados, en las raíces de los dientes. En el caso de mayor extensión quística, el procedimiento fue: extracción del implante osteointegrado con apicectomía de los dientes vecinos, biopsia excisional de la lesión e injerto mediante la técnica de regeneración ósea guiada asociada a L-PRF. En los tres casos, el tratamiento de endodoncia se realizó en los dientes vecinos dentro de los 2 años de supervivencia de los implantes osteointegrados para revertir la lesión existente. La hipótesis diagnóstica de los tres casos fue lesión perirradicular y periimplantaria, originada por un contacto de la región apical del implante osteointegrado con el diente adyacente. La distancia de 1,08 mm entre los ápices no aseguraba la normalidad de los tejidos perirradiculares y periimplantarios. El contacto íntimo provocó lesiones de diferente extensión y fracturas radiculares. El contacto prematuro del implante osteointegrado con la región radicular del diente vecino puede conducir al desarrollo de lesiones perirradiculares y periimplantarias, lo que sugiere que no es posible controlar este proceso infeccioso con tratamiento endodóntico del diente lesionado.

Malformación linfática quística gigante del hígado: dos casos pediátricos con diferente abordaje quirúrgico / Giant cystic lymphatic malformation of the liver: two pediatric cases with different surgical approach

Introducción. Las malformaciones linfáticas quísticas, también llamadas linfangiomas quísticos, aparecen muy raramente de forma aislada en el hígado. Casos clínicos. Se presentan dos pacientes femeninas de edad preescolar con marcada hepatomegalia, dependiente de lesiones quísticas multitabicadas, secundarias a malformación linfática quística gigante del hígado, que fueron tratadas en el Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Resultados. En ambos casos el diagnóstico se apoyó en los estudios de imágenes, la laparoscopia y el análisis histopatológico. En un caso el tratamiento fue la hepatectomía derecha, mientras que en el otro se empleó la escleroterapia, ambas con evolución favorable. Conclusión. A pesar de su rareza, este diagnóstico no debe obviarse ante un paciente pediátrico con lesiones hepáticas quísticas. El tratamiento de elección es la resección quirúrgica, pero su indicación y envergadura debe valorarse de forma individualizada

Introduction. Cystic lymphatic malformations, also called cystic lymphangiomas, are very rarely found in the liver. Clinical cases. Two pediatric female preschool-age patients. presented with hepatomegaly due to multi-septated cystic lesions of the liver, who received treatment at Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Results. We report two pediatric cases with giant cystic lymphatic malformation of the liver. In both cases, the diagnosis were based on imaging, laparoscopy and pathology. In one case the treatment was right hepatectomy, whereas in the other, sclerotherapy was performed, both with a favorable outcome. Conclusion. Despite its rarity, this diagnosis should be considered in pediatric patients with hepatic cystic lesions. The recommended treatment is surgical resection, but its indication and extent should be assessed individually for each patient.

Utilidad diagnóstica del CD117 en un inusual carcinoma adenoide quístico del labio superior / Diagnostic utility of CD117 in an unusual adenoid cystic carcinoma of the upper lip / Utilidade diagnóstica do CD117 num carcinoma adenoide cístico invulgar do lábio superior

RESUMEN El carcinoma adenoide quístico (CAQ) es una neoplasia maligna de glándula salival, de evolución lenta pero de agresivo comportamiento, que se presenta frecuentemente en el paladar; sin embargo, en el labio superior, donde suelen encontrarse más neoplasias benignas, su presencia es escasamente relatada. Se expone un relato de una mujer de 63 años, derivada por presentar un nódulo en el labio superior derecho, de aspecto benigno, consistencia firme, circunscrito, móvil, doloroso a la palpación, sin tiempo de evolución determinado y cuyo estudio histopatológico exhibió una proliferación de células anguladas e hipercromáticas de escaso citoplasma, organizadas en patrón cribiforme y predominantemente tubular. Se realiza un estudio inmunohistoquímico, el cual mostró positividad para SMA, p63 y CD117 con un Ki-67 del 10 % aproximadamente. Estos resultados confirman diagnóstico de CAQ con patrón tubular, destacando el rol del CD117 para el diagnóstico diferencial con adenocarcinoma polimorfo. Se deriva a la paciente para tratamiento quirúrgico y radioterapia, y luego de un año de seguimiento mantiene un buen comportamiento clínico.

ABSTRACT Adenoid cystic carcinoma (ACCC) is a malignant neoplasm of the salivary gland, of slow evolution but aggressive behavior, which frequently occurs in the palate; however, in the upper lip, where more benign neoplasms are usually found, its presence is scarcely reported. We report the case of a 63-year-old woman, referred for presenting a nodule in the right upper lip, with benign appearance, firm consistency, circumscribed, mobile, painful to palpation, with no determined time of evolution and whose histopathological study showed a proliferation of angular and hyperchromatic cells with scarce cytoplasm, organized in a cribriform pattern and predominantly tubular. An immunohistochemical study was performed, which showed positivity for SMA, p63 and CD117 with a Ki-67 of approximately 10%. These results confirm the diagnosis of CAC with tubular pattern, highlighting the role of CD117 for the differential diagnosis with polymorphous adenocarcinoma. The patient was referred for surgical treatment and radiotherapy, and after one year of follow-up she maintained a good clinical behavior.

RESUMO O carcinoma adenoide cístico (CACC) é uma neoplasia maligna da glândula salivar, de evolução lenta, mas de comportamento agressivo, que ocorre frequentemente no palato; no entanto, a sua presença é raramente relatada no lábio superior, onde normalmente se encontram neoplasias mais benignas. Relatamos o caso de uma mulher de 63 anos que foi encaminhada por apresentar um nódulo benigno no lábio superior direito, de aspeto firme, circunscrito, móvel, doloroso à palpação, sem tempo de evolução definido. O exame histopatológico revelou uma proliferação de células angulosas e hipercromáticas com citoplasma escasso, organizadas em padrão cribriforme e predominantemente tubulares. Foi efetuado um estudo imuno-histoquímico que mostrou positividade para SMA, p63 e CD117 com um Ki-67 de aproximadamente 10 %. Estes resultados confirmam o diagnóstico de CAC com padrão tubular, realçando o papel do CD117 no diagnóstico diferencial com adenocarcinoma polimorfo. A paciente foi encaminhada para tratamento cirúrgico e radioterapia e, após um ano de seguimento, manteve bom comportamento clínico.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

EZH2 immunoexpression in pleomorphic adenoma and adenoid cystic carcinoma and clinicopathological features

Abstract The aim of this study was to evaluate the expression of the EZH2 protein and describe the clinical and microscopic characteristics of adenoid cystic carcinoma (ACC) and pleomorphic adenoma (PA). The study included 16 ACC cases and 12 PA. All ACC and PA cases were positive for EZH2 and the ACC samples showed significantly higher EZH2 expression. The clinical and microscopic covariates were described in relation to EZH2 staining in ACC samples. The highest mean values of EZH2 were observed in cases with local metastasis, recurrence, perineural invasion, and predominantly cribriform growth pattern without solid areas. EZH2 is a potential marker of malignancy.

Alternativa terapéutica para mejorar la calidad de vida en pacientes con fibrosis quística y discinesia ciliar primaria / Therapeutic alternative to improve quality of life in patients with cystic fibrosis and primary ciliary dyskinesia

Objective: To evaluate the clinical response of patients with cystic fibrosis and primary ciliary dyskinesia after endoscopic sinus surgery at the Dr. Robert Reid Cabral Children's Hospital from September 2021 to February 2022. Methods: An ambispective, cross-sectional, observational case series study was conducted, where the study population was made up of patients with cystic fibrosis and primary ciliary dyskinesia at the Dr. Robert Reid Cabral children's hospital during the study period. Inclusion criteria: Patients older than 6 years with a confirmed diagnosis of cystic fibrosis and primary ciliary dyskinesia (Genetic test with 2 homozygous mutations, positives electrolytes in sweat), severe respiratory symptoms of CRS that did not improve with conventional treatment and underwent endoscopic surgery for sinuses. Results: Of a total of 41 patients, only 10 met the inclusion criteria, the most prevalent age range was 14 to 18 years. Both CF and PCD patients decreased the frequency of CRS symptoms. After ENC, there were discrete changes in lung function, and only patients with severe to moderate disease increased % of FEV1. Most of the patients did not require admission after surgery. The most common germ found in nasopharyngeal and sputum cultures in preoperative patients was Pseudomonas aeruginosa in 86%; after ESS there was a significant increase in MRSA colonization in both CF and PCD patients. More than 50% of postoperative patients improved their quality of life, so endoscopic sinus surgery is effective in this population in the treatment of chronic rhinosinusitis.

Objetivo: Evaluar la respuesta clínica de los pacientes con fibrosis quística y discinesia ciliar primaria posterior a la cirugía endoscópica de senos paranasales en el Hospital Infantil Dr. Robert Reid Cabral en el período septiembre 2021 a febrero 2022. Métodos: Se realizó un estudio observacional tipo serie de casos, de corte transversal y ambispectivo, donde la población estudiada estuvo conformada por los pacientes con fibrosis quística y discinesia ciliar primaria del hospital infantil Dr. Robert Reid Cabral en el período de estudio. Criterios de inclusión: Pacientes mayores de 6 años con diagnóstico confirmado de fibrosis quística y discinesia ciliar primaria (Prueba genética con 2 mutaciones homocigotas, electrolitos en sudor positivos), síntomas respiratorios severos de RSC que no mejoraron con tratamiento convencional y sometidos a la cirugía endoscópica de senos paranasales. Resultados: De un total de 41 pacientes, sólo 10 cumplieron con los criterios de inclusión, el rango de edad más prevalente fue de 14 a 18 años. Tanto los pacientes con FQ como los de DCP disminuyeron la frecuencia de los síntomas de RSC. Posterior a la CEN hubo cambios discretos en la función pulmonar, y sólo los pacientes con enfermedad grave a moderada aumentaron el % de FEV1. La mayoría de los pacientes no ameritaron ingresos posterior a la cirugía. El germen más común encontrado en los cultivos nasofaríngeo y esputo en los pacientes preoperatorios fue la Pseudomonas aeruginosa en el 86%, luego de la CEN hubo un aumento significativo de la colonización por MRSA tanto en los pacientes con FQ como en los de DCP. Más del 50% de los pacientes postquirúrgicos mejoraron su calidad de vida, por lo que la cirugía endoscópica de senos paranasales es efectiva en dicha población en el tratamiento de la rinosinusitis crónica.

A tessitura dos discursos na construção diagnóstica da fibrose cística: uma perspectiva sobre acesso e barreiras / The intertwining of discourses in the diagnostic construction of cystic fibrosis: a perspective on access and barriers

Resumo As complexidades referidas na busca pela "exatidão" no diagnóstico da fibrose cística (FC) apontam para reflexões em torno de "o que é preciso" na atual conjuntura da "medicina de precisão". Analisamos os discursos de 19 atores sociais pertencentes à comunidade de especialistas na fibrose cística, explorando as acepções semânticas do vocábulo "precisão" e as barreiras ao diagnóstico e às inovações na terapêutica. Adotamos a análise crítica do discurso de Norman Fairclough a fim de alcançar as construções discursivas em torno da integralidade do cuidado, da garantia e oferta equitativa dos básicos sociais. O acesso foi identificado como categoria êmica quando nas arenas sociais de disputa estão as necessidades de saúde e o direito à vida.

Abstract The complexities referred to in the search for "accuracy" in the diagnosis of cystic fibrosis (CF) point to reflections around "what is needed" in the current situation of "precision medicine". We analyzed the discourses of 19 social actors belonging to the community of specialists in cystic fibrosis, exploring the semantic meanings of the word "precision", and the barriers to diagnosis and innovations in therapeutics. We adopted the critical discourse analysis (CDA) of Norman Fairclough in order to achieve the discursive constructions around the integrality of care, the guarantee and equitable supply of basic social needs. Access was identified as an emic category when in the social arenas of dispute are health needs and the right to life.

Bronchodilator response assessment through impulse oscillometry system and spirometry in children and adolescents with cystic fibrosis / Avaliação da resposta broncodilatadora por meio do sistema de oscilometria de impulso e espirometria em crianças e adolescentes com fibrose cística

ABSTRACT Objective: To investigate the effect of bronchodilator on the respiratory mechanics and pulmonary function of children and adolescents with cystic fibrosis. Methods: Cross-sectional study on clinically stable children and adolescents with cystic fibrosis aged from six to 15 years. Participants underwent impulse oscillometry and spirometry evaluations before and 15 minutes after bronchodilator inhalation. The Kolmogorov-Smirnov test was applied to verify the sample distribution, and the Student's t-test and Wilcoxon test were used to compare the data before and after bronchodilator inhalation. Results: The study included 54 individuals with a mean age of 9.7±2.8 years. The analysis showed a statistically significant improvement in impulse oscillometry and spirometry parameters after bronchodilator inhalation. However, according to the American Thoracic Society (ATS) and European Respiratory Society (ERS) recommendations (2020 and 2021), this improvement was not sufficient to classify it as a bronchodilator response. Conclusions: The use of bronchodilator medication improved respiratory mechanics and pulmonary function parameters of children and adolescents with cystic fibrosis; however, most patients did not show bronchodilator response according to ATS/ERS recommendations.

RESUMO Objetivo: Investigar o efeito do broncodilatador na mecânica respiratória e função pulmonar de crianças e adolescentes com fibrose cística. Métodos: Estudo transversal em crianças e adolescentes com fibrose cística clinicamente estáveis, com idade entre seis e 15 anos. Os participantes realizaram avaliações por meio do sistema de oscilometria de impulso e espirometria antes e 15 minutos depois da inalação de broncodilatador. Foi aplicado o teste Kolmogorov-Smirnov para verificar a distribuição da amostra. Para comparar os dados antes e depois do broncodilatador foram utilizados os testes t de Student e Wilcoxon. Resultados: Participaram do estudo 54 indivíduos com média de idade de 9,7±2,8 anos. Houve melhora estatisticamente significativa nos parâmetros do oscilometria de impulso e espirometria após a inalação com broncodilatador. No entanto, de acordo com recomendações da American Thoracic Society (ATS) e European Respiratory Society (ERS) (2020 and 2021), essa melhora não foi suficiente para classificar como reposta broncodilatadora. Conclusões: O uso de medicamento broncodilatador melhorou a mecânica respiratória e função pulmonar de crianças e adolescentes com fibrose cística, no entanto a maioria da amostra não apresentou resposta ao broncodilatador de acordo com as recomendações da ATS/ERS.

Submandibular and sublingual salivary gland involvement in adenoid cystic carcinoma

ABSTRACT Adenoid cystic carcinoma (AdCC) is a malignant salivary gland neoplasm that presents as an indolent but aggressive neoplasm. AdCC histogenesis is linked to the intercalated ducts of the salivary glands, equally affecting the major and minor glands. AdCC is associated with distant metastasis, most commonly to the lungs, and a high recurrence rate. AdCC accounts for 4.2% of all tumors. About 55% of all reported cases affect the submandibular gland, and around 50% of AdCC cases occur in the minor salivary glands. The present review describes a case of AdCC which presented a single nodular swelling on the right side involving the floor of the mouth. It also consolidates the histopathological profile of a case of AdCC with all the relevant histopathological features.

Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges

ABSTRACT Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.

Benzbromarone as adjuvant therapy for cystic fibrosis lung disease: a pilot clinical trial

ABSTRACT Objective: Cystic fibrosis (CF) affects multiple organs, the most severe consequences being observed in the lungs. Despite significant progress in developing CF transmembrane conductance regulator-specific treatments for CF lung disease, exploring alternative CF-targeted medications seems reasonable. We sought to evaluate the potential beneficial effects of oral benzbromarone as an adjuvant therapy in CF patients with reduced lung function. Methods: This was a prospective open-label pilot study of oral benzbromarone (100 mg/day) administered once daily for 90 days. Patients were followed at a tertiary referral center in southern Brazil. Safety was assessed by the number of reported adverse events. Secondary objectives included percent predicted FEV1 (FEV1%) and pulmonary exacerbations. Results: Ten patients were enrolled. Benzbromarone was found to be safe, with no serious drug-related adverse events. Eight patients completed the study; the median relative change in FEV1% tended to increase during the treatment, showing an 8% increase from baseline at the final visit. However, a nonparametric test showed that the change was not significant (p = 0.06). Of a total of ten patients, only one experienced at least one pulmonary exacerbation during the study. Conclusions: Oral benzbromarone appears to be safe, and improved FEV1% has been observed in patients with CF. Further assessment in larger trials is warranted to elucidate whether oral benzbromarone can be a potential adjuvant therapy for CF.

Fibrose cística entre "nomes" e "sobrenomes": a expressão do Biopoder na era das precisões / Cystic Fibrosis between "names" and "surnames": the expression of Biopower in the era of precision

Resumo Na fibrose cística, a identificação da variabilidade genética (mutações) da CFTR - a qual difere quanto a síntese, tráfego, estabilidade e função da proteína e suas implicações na disfuncionalidade do gene - é a principal base para o desenvolvimento dos medicamentos moduladores e inovações na terapêutica. Tais inovações prometem um aumento da expectativa de vida com qualidade na era da biomedicina high tech. O argumento deste artigo se funda na ideia de que o poder-saber pelo conhecer da mutação fomenta a construção da identidade no "eu genético". Metodologicamente, assume-se a Análise Crítica dos Discursos (ACD), interessada nas formações discursivas dos atores sociais, como uma comunidade de especialistas com vinculações diversas no campo da fibrose cística. Discute-se o quanto posições sócio-históricas e culturais, em correspondência com as práticas sociais, veiculam a centralidade do debate do direito à vida na era da medicina de precisão. A experiência compartilhada da FC, como uma condição de saúde rara, aponta para o (res)significar da cidadania em torno do bios.

Abstract In cystic fibrosis, the identification of genetic variability (mutations) of CFTR - which differs in terms of protein synthesis, trafficking, stability, and function and its implications for gene dysfunction - is the main basis for the development of modulating drugs and innovations in therapy. Such innovations promise an increase in quality life expectancy in the era of high-tech biomedicine. The argument of this article is based on the idea that power-knowledge through knowledge of mutation fosters the construction of identity in the "genetic self". Methodologically, we assume Critical Discourse Analysis (CDA), interested in the discursive formations of social actors, as a community of experts with diverse links in the field of cystic fibrosis. We discuss how socio-historical and cultural positions, in correspondence with social practices, convey the centrality of the debate on the right to life in the era of precision medicine. The shared experience of CF, as a rare health condition, points to the (re)signification of citizenship around the bios.

Telehealth for children and adolescents with chronic pulmonary disease: systematic review / Telessaúde para crianças e adolescentes com doenças pulmonares crônicas: revisão sistemática

Abstract Objective: To revise the impact of telehealth on the quality of life, reduction in pulmonary exacerbations, number of days using antibiotics, adherence to treatment, pulmonary function, emergency visits, hospitalizations, and the nutritional status of individuals with asthma and cystic fibrosis. Data source: Four databases were used, MEDLINE, LILACS, Web of Science and Cochrane, as well as manual searches in English, Portuguese and Spanish. Randomized clinical trials, published between January 2010 and December 2020, with participants aged 0 to 20 years, were included. Data synthesis: Seventy-one records were identified after the removal of duplicates; however, twelve trials were eligible for synthesis. Included trials utilized: mobile phone applications (n=5), web platforms (n= 4), mobile telemedicine unit (n=1), software with an electronic record (n=1), remote spirometer (n=1), and active video games platform (n=1). Three trials used two tools, including telephone calls. Among the different types of interventions, improvement in adherence, quality of life, and physiologic variables were observed for mobile application interventions and game platforms compared to usual care. Visits to the emergency department, unscheduled medical appointments, and hospitalizations were not reduced. There was considerable heterogeneity among studies. Conclusions: The findings suggest that better control of symptoms, quality of life, and adherence to treatment can be attributed to the technological interventions used. Nevertheless, further research is needed to compare telehealth with face-to-face care and to indicate the most effective tools in the routine care of children with chronic lung diseases.

RESUMO Objetivo: Revisar o impacto da telessaúde na qualidade de vida, redução das exacerbações pulmonares, número de dias em uso de antibióticos, adesão ao tratamento, função pulmonar, visitas à emergência, hospitalizações e estado nutricional de indivíduos com asma e fibrose cística. Fontes de dados: Foram utilizadas quatro base de dados, sendo, MEDLINE, LILACS, Web of Science e Cochrane, além de pesquisas manuais nos idiomas inglês, português e espanhol. Foram incluídos ensaios clínicos randomizados, publicados no período de janeiro de 2010 a dezembro de 2020, com participantes de 0 a 20 anos. Síntese dos dados: Setenta e um registros foram identificados após a remoção das duplicatas e doze estudos foram elegíveis para síntese. Os ensaios utilizaram aplicativos para celular (n=5), plataformas da web (n= 4), unidade de telemedicina móvel (n=1), software com registro eletrônico (n=1), espirômetro remoto (n=1) e plataforma ativa de videogames (n=1). Três ensaios utilizaram duas ferramentas, incluindo chamadas telefônicas. Entre os diferentes tipos de intervenções, observou-se melhora na adesão, qualidade de vida e de variáveis fisiológicas para intervenções de aplicativos móveis e plataformas de jogos em comparação com os cuidados habituais. Visitas ao pronto-socorro, consultas médicas não agendadas e internações não foram reduzidas. Houve considerável heterogeneidade entre os estudos. Conclusões: Os achados sugerem que a melhora do controle dos sintomas, da qualidade de vida e da adesão ao tratamento podem ser atribuídos às intervenções tecnológicas utilizadas. No entanto, mais pesquisas são necessárias para comparar a telessaúde com o atendimento presencial e indicar as ferramentas mais efetivas na rotina de cuidados à população infantil com doenças crônicas pulmonares.

Ruptured urachal mucinous cystic tumor of low malignant potential: A case report and review of literature

@#Neoplasms of the urachus are uncommon, consisting of only 0.17% of all bladder malignancy. Mucinous cystic tumor of low malignant potential (MCLTMP) is a rare subtype with only 26 cases reported in the literature as of 2023. These tumors may present in a variety of ways such as hematuria, mucusuria, lower abdominal pain and irritative lower urinary tract symptoms. This is a case of 43-year-old female presenting at the emergency room for abdominal pain initially managed as a case of ovarian new growth in complication who underwent exploratory laparotomy, adhesiolysis, bilateral salpingectomy, partial cystectomy enbloc removal of urachal with anterior peritonectomy and excision of umbilicus. Histopathologic examination revealed mucinous cystic tumor of low malignant potential (MCLTMP) of the urachus. It is important to consider the possibility of a ruptured urachal cyst in a female patient who presents with hypogastric abdominal pain. A transabdominal and transvaginal ultrasound may lead to an incorrect diagnosis. In such cases where the patient presented with an acute abdomen, knowledge that a ruptured urachal cyst maybe a differential for such masses would lead to a strategic laparotomy incision aimed at a possible en-bloc removal of the umbilicus while maintaining the connections of the possible urachal mass to the urinary bladder.

A clinicopathological analysis of cervical carcinoma with basaloid features / 实用医学杂志

Objective To investigate the clinical and pathological features of adenoid basal cell carcinoma(ABC),adenoid cystic carcinoma(ACC),and basaloid squamous cell carcinoma(BSCC)with basaloid charac-teristics and improve the diagnostic and differential diagnostic ability of clinicians and pathologists for these lesions.Methods A retrospective study was conducted on the clinical and pathological data of 4 cases of ABC,1 case of ACC,and 3 cases of BSCC diagnosed and treated at Shenzhen Maternal and Child Health Hospital,Southern Medical University from April 2018 to December 2022.Pathological slides were reviewed and relevant literature was analyzed and summarized.Results All three types of tumors were common in postmenopausal women and were associated with high-risk HPV infection.ABC was a low-grade cancer and patients were often clinically asymp-tomatic.It was usually detected incidentally during cervical screening due to cytological abnormalities,or after cervical cone biopsy or hysterectomy for HSIL.It presented as superficial cervical infiltration and clinical staging was often early.ACC and BSCC were intermediate to high-grade cancers and they often presented with postmenopausal vaginal bleeding.A visible mass was observed on the cervix.The clinical staging was intermediate to advanced.The three types of lesions could coexist.Careful observation of the morphological characteristics and immunohistochemical staining could help with differential diagnosis.None of the 8 patients experienced recurrence or metastasis during follow-up.Conclusion Cervical ABC,ACC and BSCC are rare and they originate from reserve cells.They share the similarities in clinical and pathological morphology,but differ in treatment and prognosis.So,accurate differen-tiation among them has important clinical significance.

Establishment and validation of a predictive model for the progression of pancreatic cystic lesions based on clinical and CT radiological features / 中华胰腺病杂志

Objective:To construct a machine-learning model for predicting the progression of pancreatic cystic lesions (PCLs) based on clinical and CT features, and to evaluate its predictive performance in internal/external testing cohorts.Methods:Baseline clinical and radiological data of 200 PCLs in 177 patients undergoing abdominal thin slice enhanced CT examination at Peking Union Medical College Hospital from July 2014 to December 2022 were retrospectively collected. PCLs were divided into progressive and non-progressive groups according to whether the signs indicated for surgery by the guidelines of the European study group on PCLs were present during three-year follow-up. 200 PCLs were randomly divided into training (150 PCLs) and internal testing cohorts (50 PCLs) at the ratio of 1∶3. 15 PCLs in 14 patients at Jinling Affiliated Hospital of Medical School of Nanjing University from October 2011 to May 2020 were enrolled as external testing cohort. The clinical and CT radiological features were recorded. Multiple feature selection methods and machine-learning models were implemented and combined to identify the optimal machine-learning model based on the 10-fold cross-validation method. Receiver operating characteristics (ROC) curve was drawn and area under curve (AUC) was calculated. The model with the highest AUC was determined as the optimal model. The optimal model's predictive performance was evaluated on testing cohort by calculating AUC, sensitivity, specificity and accuracy. Permutation importance was used to assess the importance of optimal model features. Calibration curves of the optimal model were established to evaluate the model's clinical applicability by Hosmer-Lemeshow test.Results:In training and internal testing cohorts, the progressive and non-progressive groups were significantly different on history of pancreatitis, lesions size, main pancreatic duct diameter and dilation, thick cyst wall, presence of septation and thick septation (all P value <0.05) In internal testing cohort, the two groups were significantly different on gender, lesion calcification and pancreatic atrophy (all P value <0.05). In external testing cohort, the two groups were significantly different on lesions size and pancreatic duct dilation (both P<0.05). The support vector machine (SVM) model based on five features selected by F test (lesion size, thick cyst wall, history of pancreatitis, main pancreatic duct diameter and dilation) achieved the highest AUC of 0.899 during cross-validation. SVM model for predicting the progression of PCLs demonstrated an AUC of 0.909, sensitivity of 82.4%, specificity of 72.7%, and accuracy of 76.0% in the internal testing cohort, and 0.944, 100%, 77.8%, and 86.7% in the external testing cohort. Calibration curved showed that the predicted probability by the model was comparable to the real progression of PCLs. Hosmer-Lemeshow goodness-of-fit test affirmed the model's consistency with actual PCLs progression in testing cohorts. Conclusions:The SVM model based on clinical and CT features can help doctors predict the PCLs progression within three-year follow-up, thus achieving efficient patient management and rational allocation of medical resource.

Small lesion detection in ultrasound images of hepatic cystic echinococcosis based on improved YOLOv7 / 中国医学物理学杂志

Objective To propose a novel algorithm model based on YOLOv7 for detecting small lesions in ultrasound images of hepatic cystic echinococcosis.Methods The original feature extraction backbone was replaced with a lightweight feature extraction backbone network GhostNet for reducing the quantity of model parameters.To address the problem of low detection accuracy when the evaluation index CIoU of YOLOv7 was used as a loss function,ECIoU was substituting for CIoU,which further improved the model detection accuracy.Results The model was trained on a self-built dataset of small lesion ultrasound images of hepatic cystic echinococcosis.The results showed that the improved model had a size of 59.4 G and a detection accuracy of 88.1%for mAP@0.5,outperforming the original model and surpassing other mainstream detection methods.Conclusion The proposed model can detect and classify the location and category of lesions in ultrasound images of hepatic cystic echinococcosis more efficiently.