Trastornos del sueño en pacientes con fibrosis quística / Sleep disorders in patients with cystic fibrosis

Los trastornos del sueño son comunes en pacientes con fibrosis quística y afectan significativamente su calidad de vida. Estos pacientes experimentan una reducción en la calidad del sueño, hipoxemia nocturna, alteraciones en la polisomnografía y una alta prevalencia de síndrome de apneahipopnea obstructiva del sueño. Los factores que contribuyen a estas alteraciones incluyen la tos crónica, los síntomas digestivos, las rutinas de tratamiento y, posiblemente, la disfunción del canal CFTR. Sin embargo, el impacto de los moduladores de CFTR en la mejora de los trastornos del sueño aún no está claramente establecido, lo que resalta la necesidad de más estudios para comprender mejor su papel en el manejo del sueño en pacientes con fibrosis quística.

Sleep disorders are common in patients with cystic fibrosis and significantly affect their quality of life. These patients experience reduced sleep quality, nocturnal hypoxemia, polysomnography alterations, and a high prevalence of obstructive sleep apnea-hypopnea syndrome. Contributing factors include chronic cough, digestive symptoms, treatment routines, and potentially CFTR channel dysfunction. However, the impact of CFTR modulators on improving sleep disorders is not yet clearly established, highlighting the need for further studies to better understand their role in sleep management in cystic fibrosis patients.

Primary retroperitoneal tumor: mucinous cystoadenocarcinoma / Tumor primario retroperitoneal: cistoadenocarcinoma mucinoso

Abstract Primary retroperitoneal mucinous cystadenocarci nomas (PRMCs) are extremely rare tumors with limited understanding of their pathogenesis and biological be havior. We describe a case of a 50-year-old female patient who underwent surgical treatment. The patient had a history of previous surgeries for mesenteric mucinous cystadenoma, without evidence of recurrence. During routine abdominal ultrasound a new tumor was found. An abdomen magnetic resonance imaging was done and confirmed the presence of a cystic lesion in the right iliac fossa. After discussion in multidisciplinary committee, surgical complete resection of the tumor, along with bilateral adnexectomy, was performed successfully. Histopathological examination revealed a mucinous adenocarcinoma adjacent to a mucinous cystadenoma. Immunohistochemical analysis supported the diagnosis of a primary retroperitoneal lesion. The patient had an uneventful recovery and has remained disease-free du ring the two-year postoperative follow-up. PRMCs are challenging to diagnose preoperatively due to nonspecific symptoms. Surgical excision is the mainstay of treatment. The long-term prognosis and op timal therapeutic strategies require further investigation.

Resumen Los cistoadenocarcinomas mucinosos primarios re troperitoneales (CMPR) son tumores extremadamente raros con una comprensión limitada de su patogénesis y comportamiento biológico. Describimos el caso de una mujer de 50 años some tida a tratamiento quirúrgico. La paciente tenía antece dentes de cirugías previas por cistodenoma mucinoso mesentérico, sin evidencia de recurrencia. Durante una ecografía abdominal de rutina se encontró un nuevo tumor. Se realizó una resonancia magnética abdomen que confirmó la presencia de una lesión quística en la fosa ilíaca derecha. Luego de discutir el caso en el comité multidisci plinario, se realizó con éxito la resección quirúrgica completa del tumor, junto con la anexectomía bilateral. El examen histopatológico reveló un adenocarcinoma mucinoso adyacente a un cistodenoma mucinoso. El análisis inmunohistoquímico apoyó el diagnóstico de lesión primaria retroperitoneal. La paciente tuvo una buena recuperación y permaneció libre de enfermedad durante dos años de seguimiento postoperatorio. Los CMPR son difíciles de diagnosticar debido a que presentan síntomas inespecíficos. La escisión quirúrgica es la base del tratamiento. El pronóstico a largo plazo y las estrategias terapéuticas óptimas requieren más investigación.

Effects of home-based remote rehabilitation on children and adolescents with cystic fibrosis and non-cystic fibrosis bronchiectasis: a systematic review protocol

Background: Home-based remote rehabilitation combining the use of new technological tools is an alternative way of rehabilitation when traditional center-based programs are limited or are not feasible. This systematic review aims to investigate the level of evidence for the effects of home-based remote rehabilitation on children and adolescents with cystic fibrosis (CF) and non-cystic fibrosis bronchiectasis (NCFB). Methods: This systematic review will follow the preferred reporting items for systematic reviews and meta-analysis (PRISMA). Five databases will be searched from the period of the inception until March 2024: PubMed, Web of Science, Medline (via EBSCOhost), ACM Digital Library, and Scopus. Methodological quality will be assessed using the revised Cochrane Risk of Bias tool for randomized trials (RoB 2) and the risk of bias in non-randomized studies – of interventions (ROBINS-1) tool. The overall quality of the evidence will be assessed using the grading of recommendations assessment, development, and evaluation (GRADE) approach. Conclusions: Evaluation of the level of evidence for the effects of home-based remote rehabilitation in children and adolescents with CF and NCFB is an important step in the context of telehealth, providing an alternative way of approaching pediatric patients, during the process of rehabilitation. Trial registration: PROSPERO registration number is CRD42024498403.

A massive degenerated uterine leiomyoma masquerading as an ovarian malignancy: a diagnostic dilemma

Leiomyoma of the uterus is the most common tumour of the female pelvis arising from the uterine smooth muscle. Large cystic degenerations and leiomyomas located in the adnexa can mimic ovarian malignancy and challenge the radiologist and the operating surgeon. We report here an unusual case of large cystic, degenerated uterine leiomyoma mimicking malignant ovarian tumour on imaging.

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.

Manifestaciones hepáticas en niños con fibrosis quística y uso de moduladores CFTR. ¿Qué debemos monitorizar? / Hepatic manifestations in children with cystic fibrosis and use of CFTR modulators. What should we monitor?

La enfermedad hepática relacionada con fibrosis quística se observa en el 10% de las personas portadoras de la enfermedad. La terapia con moduladores ha mejorado la morbimortalidad, pero teniendo en cuenta que presentan efectos secundarios infrecuentes es necesario monitorizar. Se analiza el algoritmo propuesto por Eldredge et al, que sugiere las decisiones a tomar basado en el resultado de perfil hepático y su aplicación en la práctica clínica.

Cystic fibrosis-related liver disease is seen in 10% of people with the disease. Therapy with modulators has improved morbidity and mortality, but taking into account that they present infrequent side effects, monitoring is necessary. The algorithm proposed by Eldredge et al is analyzed, which suggests the decisions to be made based on the liver profile result and its application in clinical practice.

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.

Micosis pulmonar causada por Penicillium spp: reporte de caso en paciente con fibrosis quística / Pulmonary mycosis caused by Penicillium spp: case report in a patient with cystic fibrosis

Se presenta el caso de un paciente masculino de 15 años con diagnóstico de fibrosis quística. Este desarrolló una sintomatología caracterizada por tos húmeda, no cianozante ni emetizante, sin un patrón temporal específico. Asociado a esto, nuevas lesiones nodulares bilaterales fueron identificadas en una tomografía de tórax. El abordaje diagnóstico incluyó una broncoscopia y la toma de un lavado broncoalveolar, que identificó la presencia de un microorganismo micótico poco común: Penicillium spp. Se inició tratamiento con voriconazol oral durante 14 días, resultando en una mejora clínica y radiológica significativa. El cultivo de expectoración posterior mostró un resultado negativo para Penicillium spp. Aunque la incidencia de exacerbaciones pulmonares causadas por agentes micóticos en pacientes con fibrosis quística es relativamente baja, se observa un incremento gradual, posiblemente relacionado con el uso prolongado de antimicrobianos de amplio espectro. La importancia de reportar este caso radica en el papel incierto que estos microorganismos juegan en la progresión del daño pulmonar, subrayando la necesidad de un seguimiento a mediano y largo plazo en estos pacientes.

This report discusses a 15-year-old male patient diagnosed with cystic fibrosis who developed clinical symptoms characterized by productive cough, not associated with cyanosis or vomiting, and without a specific time pattern. Associated with these symptoms, new bilateral nodular lesions were identified in a chest CT scan. Diagnostic approach included bronchoscopy and bronchoalveolar lavage, which identified a rare fungal organism: Penicillium spp. Treatment with oral voriconazole for 14 days was initiated, resulting in significant clinical and radiological improvement. Subsequent sputum culture showed a negative result for Penicillium spp. Although the incidence of pulmonary exacerbations caused by fungal agents in patients with cystic fibrosis is relatively low, there is a gradual increase, possibly related to the prolonged use of broad-spectrum antimicrobials. The importance of reporting this case lies in the uncertain role these organisms play in the progression of lung damage, highlighting the need for medium and long-term follow-up in these patients.

Rinosinusitis crónica en fibrosis quística: una actualización / Chronic rhinosinusitis in cystic fibrosis: an update

En las últimas décadas, el tratamiento agresivo, protocolizado y realizado en centros multidisciplinarios de fibrosis quística (FQ), ha mejorado notablemente la sobrevida media de los pacientes. Como consecuencia, síntomas más bien secundarios, como los derivados del compromiso de la vía aérea superior, entre ellos la rinosinusitis crónica (RSC), con o sin pólipos nasales (PN), han empezado a impactar en la calidad de vida y en el curso de la enfermedad. Esto hace del diagnóstico y tratamiento oportuno de esta complicación un objetivo importante en el manejo de la FQ. El propósito de esta revisión es proporcionar una actualización sobre los aspectos diagnósticos y las terapias disponibles para el manejo de la RSC en pacientes con FQ.

In recent decades, aggressive, protocolized treatment conducted in multidisciplinary cystic fibrosis (CF) centers has significantly improved the median survival of patients. Consequently, secondary symptoms, such as those arising from upper airway involvement, including chronic rhinosinusitis (CRS), with or without nasal polyps (NP), have begun to impact the quality of life and the course of the disease. This makes timely diagnosis and treatment of this complication an important goal in CF management. The purpose of this review is to provide an update on diagnostic aspects and available therapies for managing CRS in patients with CF.

Factors associated with cystic fibrosis mortality before the age of 30: retrospective analysis of a cohort in southern Brazil

The aim of this study was to retrospectively evaluate the factors associated with mortality before the age of 30 in adults with cystic fibrosis (CF) followed up at a referral center in southern Brazil. This study included individuals over 18 years of age. Clinical data related to childhood and the period of transition to an adult healthcare of individuals with CF were recorded, as well as spirometric and mortality data of individuals between 18 and 30 years of age. A total of 48 patients were included in this study, of which 28 (58.3%) were male. Comparing groups, we observed a higher prevalence of homozygosis for the F508del mutation (P=0.028), massive hemoptysis before the age of 18 (P=0.027), and lower values of pulmonary function, forced expiratory volume in the first second (FEV1) (%) (P=0.002), forced vital capacity (FVC) (%) (P=0.01), and FEV1/FVC (%) (P=0.001) in the group that died before age 30. F508del homozygosis, episodes of massive hemoptysis in childhood, and lower FEV1 values at age 18 were related to mortality before age 30 in a cohort of individuals with CF in southern Brazil.

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.

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.

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.

Preliminary Study on Prognostic Factors of New-onset Diabetes Mellitus After Distal Pancreatectomy for Pancreatic Cystic Tumor / 中国微创外科杂志

Objective To explore the prognostic factors of new-onset diabetes mellitus(NODM)in patients with pancreatic cystic tumor after distal pancreatectomy(DP).Methods Between January 2010 and December 2019,92 patients with cystic pancreatic tumors in our hospital underwent laparoscopic DP.According to the inclusion and exclusion criteria,a total of 74 cases were included and divided into NODM group or normal glucose metabolism group based on whether postoperative NODM occurred.A univariate analysis was used to evaluate the prognostic factors of laparoscopic DP for pancreatic cystic tumors.P<0.05 was considered statistically significant,OR>4 was considered as a potential prognostic factor of clinical significance for NODM.Results NODM was diagnosed in26 cases(35.1%),with a median diagnosis time of 9 months(range,3-56 months)after surgery.Univariate analysis showed that transecting pancreas in the neck(OR = 11.000,P = 0.000),BMI≥25.0(OR = 4.333,P = 0.007),and family history of diabetes mellitus(OR =5.000,P =0.004)were prognostic factors of postoperative NODM.Conclusions When performing DP for pancreatic cystic tumors,it is advisable to preserve as much pancreatic tissue as possible and avoid cutting off the pancreas in the neck.Precise postoperative strategy of glucose metabolism surveillance for patients with BMI≥25.0 and family history of diabetes mellitus should be promoted.

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 ten-year review of congenital pulmonary airway malformation cases in a pediatric tertiary hospital

Objective@#A retrospective study of the demographic, clinical and diagnostic profile, intervention and outcomes of children with Congenital Pulmonary Airway Malformation (CPAM) in Philippine Children’s Medical Center (PCMC) from January 2011 to December 2021 was presented.@*Methodology@#Medical charts of identified patients were reviewed. Data obtained included demographic profile, clinical history, diagnostic procedures, intervention, and outcomes. The findings were analyzed and correlated with the synthesized findings from relevant studies about CPAM.@*Results@#Twenty-three cases (n=23) were included in the study. Most of the patients were diagnosed at 1 to 11 months of age, accounting for 43.48% while there is a minimal disparity in terms of gender distribution. Seventy-five percent of neonates presented with respiratory distress while recurrent pneumonia occurred more frequently beyond the neonatal period. Four patients at 17.39% had incidental findings of CPAM on prenatal ultrasound. All cases were confirmed using a Chest CT scan and only six patients at 26.09% had Chest X-ray results consistent with CPAM. Eight cases were confirmed using biopsy wherein results were mainly Type I seen in 87.5% of cases. Lobectomy is the procedure of choice with 92.86% success rate. Overall, patients who underwent surgical intervention had a low complication rate at 6.25%. @*Conclusion@#CPAM is most common in patients aged 1 to 11 months and has no gender predilection. Neonates often present with respiratory distress while recurrent pneumonia is the most common clinical manifestation beyond neonatal period. CPAM can be detected using ultrasound prenatally and CT scan can confirm CPAM postnatally. Surgical intervention particularly lobectomy is the preferred option over conservative management which showed a favorable outcome. CPAM has an overall good prognosis. Findings of this research may guide clinicians in the diagnosis and management of CPAM in the Philippines.

Association of TP53 germline variant and choledochal cyst among clinically diagnosed Filipino pediatric patients

@#Background and Objective. Choledochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital. Methods. Genomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing. Results. A total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40). Conclusion. There is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.