Prevalencia y análisis clinicopatológico de pacientes con mutación en el gen PIK3CA con cáncer de mama avanzado Rh+/Her2- en el Instituto Oncológico Nacional De Panamá

Antecedentes: La vía de señalización de la fosfoisitol 3-quinasa (PI3K), que promueve el crecimiento y el metabolismo de las células cancerosas, es la vía mutada con mayor frecuencia en el cáncer de mama y es asociada con quimio resistencia y mal pronóstico. En este estudio presentamos el primer análisis en población panameña y de la región, con ataciones precisas de la mutación PIK3CA, las características clinicopatológicas y pronóstico. Métodos: Estudio exploratorio, donde se recolectaron prospectivamente tumores de 74 pacientes con cáncer de mama metastásico RH+/Her2- del Instituto Oncológico Nacional entre 2022 y 2023. Se realizó un ensayo de PCR en tiempo real para análisis de mutación en ADN extraído del material tumoral fijado en formalina e incluido en parafina para detectar mutaciones en los exones 1, 4, 7, 9 y 20 del gen PIK3CA. Resultados: La mediana de edad de las pacientes estudiadas fue 59 años. La mutación en PIK3CA se encontró en 33.8% (25/74) de pacientes con cáncer de mama, entre ellas 44% fueron mutaciones en el exón 20, 38% en el exón 9, 13% en el exón 4 y 5% en el exón 1. Se observó una correlación significativa entre la mutación y el  tener historia de cáncer en la familia (p= 0.005), y en pacientes postmepáusicas (P = 0.045).  encontramos asociación entre la mutación y el tipo histológico, grado, tamaño tumoral ni estatus axilar al momento del diagnóstico. La mediana de supervivencia libre de progresión  se alcanzó en ambos grupos y tampoco demostró una diferencia significativa. Conclusión: La prevalencia de la mutación es relativamente alta comparada con escenarios internacionales, puede ofrecer una ventaja para elegir las mejores opciones de tratamiento por lo que debe evaluarse de forma rutinaria durante las intervenciones clínicas. (provisto por Infomedic International)

Background: The phosphoisitol 3-kinase (PI3K) signaling pathway, which promotes cancer cell growth and metabolism, is the most frequently mutated pathway in breast cancer and is associated with chemoresistance and poor progsis. In this study we present the first analysis in Panamanian and regional population, with precise antations of the PIK3CA mutation, clinicopathological characteristics and progsis. Methods: Exploratory study, where tumors were prospectively collected from 74 patients with RH+/Her2- metastatic breast cancer from the Instituto Oncológico Nacional between 2022 and 2023. A real-time PCR assay for mutation analysis was performed on DNA extracted from formalin-fixed, paraffin-embedded tumor material to detect mutations in exons 1, 4, 7, 9 and 20 of the PIK3CA gene. Results: The median age of the patients studied was 59 years. The mutation in PIK3CA was found in 33.8% (25/74) of patients with breast cancer, among them 44% were mutations in exon 20, 38% in exon 9, 13% in exon 4 and 5% in exon 1. A significant correlation was observed between the mutation and having  history of cancer in the family (P = 0.005), and in postmepausal patients (P = 0.045). We found  association between the mutation and histologic type, grade, tumor size or axillary status at diagsis. Median progression-free survival was t reached in both groups and did t show a significant difference. Conclusion: The prevalence of the mutation is relatively high compared to international settings, it may offer an advantage in choosing the best treatment options and should be routinely evaluated during clinical interventions. (provided by Infomedic International)

Clinicopathologic Characteristics and Prognosis of Oligodendroglioma with IDH Mutation and 1p/19q Codeletion / 肿瘤防治研究

Objective To analyze the clinicopathological characteristics and prognosis of oligodendroglioma with IDH mutation and 1p/19q codeletion. Methods We collected the data of 54 oligodendroglioma patients with IDH mutation and 1p/19q codeletion.The patients'clinicopathological data, including age, histological grade, and tumor site, were analyzed for the effects on progression-free and overall survival. Results Among the 54 patients, 46 cases were with tumor sites in one lobe, and eight cases involved tumor sites in more than two lobes.A total of 12 and 42 cases had WHO grades 2 and 3 oligodendroglioma, respectively.Detection by fluorescence in situ hybridization showed 1p/19q co-deletion in all cases.Immunohistochemical tests revealed diffuse and strong positive results for Olig2.All glial fibrillary acidic proteins were positive.p53 was strongly positive in six cases.ATRX was expressed in all 48 cases.Ki-67 proliferation index ranged from 5% to 60%.Sanger sequencing showed that all 54 cases had IDH gene mutations (40 cases were IDH1 mutations, and 14 were IDH2 mutations), and 33 cases had telomerase reverse transcriptase promoter mutations.Relapse and metastasis occurred in 16 patients during treatment.Univariate analysis indicated that the postoperative recurrence and metastasis interval of more than two years can prolong the progression-free and overall survival of patients.All 54 patients had a mean progression-free survival of 33.5 months and the mean overall survival of 40.7 months. Conclusion For oligodendroglioma with IDH mutation and 1p/19q codeletion, precision chemoradiotherapy after surgery can reduce the risk of progression, and the postoperative recurrence and metastasis interval is associated with the prognosis.

3D hippocampal segmentation based on spatial and frequency domain features adaptive fusion and inter⁃class boundary region enhancement / 解剖学报

Objective Hippocampal atrophy is a clinically important marker for the diagnosis of many psychiatric disorders such as Alzheimer’s disease‚ so accurate segmentation of the hippocampus is an important scientific issue. With the development of deep learning‚ a large number of advanced automatic segmentation method have been proposed. However‚ 3D hippocampal segmentation is still challenging due to the effects of various noises in MRI and unclear boundaries between various classes of the hippocampus. Therefore‚ the aim of this paper is to propose new method to segment the hippocampal head‚ body‚ and tail more accurately. Methods To overcome these challenges‚ this paper proposed two strategies. One was the spatial and frequency domain features adaptive fusion strategy‚ which reduced the influence of noise on feature extraction by automatically selecting the appropriate frequency combination through fast Fourier transform and convolution. The other was an inter-class boundary region enhancement strategy‚ which allowed the network to focus on learning the boundary regions by weighting the loss function of the boundary regions between each class to achieve the goal of pinpointing the boundaries and regulating the size of the hippocampal head‚ body and tail. Results Experiments performed on a 50-case teenager brain MRI dataset show that our method achieves state-of-the-art hippocampal segmentation. Hippocampal head‚ body and tail had been improved compared to the existing method. Ablation experiments demonstrated the effectiveness of our two proposed strategies‚ and we also validated that the network had a strong generalization ability on a 260-case Task04_Hippocampus dataset. It was shown that the method proposed in this paper could be used in more hippocampal segmentation scenarios. Conclusion The method proposed in this paper can help clinicians to observe hippocampal atrophy more clearly and accomplish more accurate diagnosis and follow-up of the condition.

Exploration of CT imaging features of cystic pulmonary nodules and establishment of a prediction model for benign and malignant pulmonary nodules / 中国胸心血管外科临床杂志

@#Objective To explore the CT imaging features and independent risk factors for cystic pulmonary nodules and establish a malignant probability prediction model. Methods The patients with cystic pulmonary nodules admitted to the Department of Thoracic Surgery of the First People's Hospital of Neijiang from January 2017 to February 2022 were retrospectively enrolled. They were divided into a malignant group and a benign group according to the pathological results. The clinical data and preoperative chest CT imaging features of the two groups were collected, and the independent risk factors for malignant cystic pulmonary nodules were screened out by logistic regression analysis, so as to establish a prediction model for benign and malignant cystic pulmonary nodules. Results A total of 107 patients were enrolled. There were 76 patients in the malignant group, including 36 males and 40 females, with an average age of 59.65±11.74 years. There were 31 patients in the benign group, including 16 males and 15 females, with an average age of 58.96±13.91 years. Multivariate logistic analysis showed that the special CT imaging features such as cystic wall nodules [OR=3.538, 95%CI (1.231, 10.164), P=0.019], short burrs [OR=4.106, 95%CI (1.454, 11.598), P=0.008], cystic wall morphology [OR=6.978, 95%CI (2.374, 20.505), P<0.001], and the number of cysts [OR=4.179, 95%CI (1.438, 12.146), P=0.009] were independent risk factors for cystic lung cancer. A prediction model was established: P=ex/(1+ex), X=–2.453+1.264×cystic wall nodules+1.412×short burrs+1.943×cystic wall morphology+1.430×the number of cysts. The area under the receiver operating charateristic curve was 0.830, the sensitivity was 82.9%, and the specificity was 74.2%. Conclusion Cystic wall nodules, short burrs, cystic wall morphology, and the number of cysts are the independent risk factors for cystic lung cancer, and the established prediction model can be used as a screening method for cystic pulmonary nodules.

The Analysis of Clinical Features of 186 Cases of Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma / 罕见病研究

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

Study of Triptolide on Liver Injury and Detoxification Strategy / 中国实验方剂学杂志

As a commonly used traditional Chinese medicine in clinical practice， Tripterygium wilfordii has the functions of dispelling wind and removing dampness， detoxicating and destroying parasites， detumescence， pain relief， promoting blood circulation， and dredging collateral. Modern pharmacological studies show that it also has other functions such as anticancer， anti-inflammation， and immunosuppression. It has been widely used to treat autoimmune diseases， renal diseases， and tumors. T. wilfordii contains a variety of chemical components， among which triptolide （TP） can cause varying degrees of damage to human digestive， circulatory， reproductive， and other systems， with liver injury being the most common one， which greatly limits the development of TP in new drug research and industrial application. Therefore， the authors focused on the research hotspot of TP-induced liver injury and summarized relevant Chinese and international literature regarding the clinical manifestations， injury mechanisms， and detoxification strategies of TP-induced liver injury. This helps to provide a scientific basis for the clinical drug safety and scientific drug supervision of TP. The clinical manifestations of TP-induced liver injury are mostly abnormal transaminases， loss of appetite， nausea and vomiting， anorexia， yellow staining of skin and sclera， and yellow urine. The mechanisms of the above clinical manifestations involve apoptosis， oxidative stress， influence on cytochrome P450 superfamily， macrophage polarization， regulation of biological clock gene Clock， etc. Among them， cell apoptosis is related to neurogenic locus notch homolog protein 1 （Notch1）， dynamin-related protein 1 （Drp1）-cytochrome C （Cyt C）， phosphatidylinositide 3-kinases （PI3K）/protein kinase B （Akt）， mitogen-activated protein kinase （MAPK）， tumor suppressor protein 53 （p53）， Fas cell surface death receptor （Fas）/Caspase-8， and other signaling pathways. Oxidative stress is related to inhibition of nuclear factor-erythroid 2-related factor 2 （NRF2） signaling pathway， promotion of cytochrome P450 2E1 （CYP2E1） expression， and excessive accumulation of reactive oxygen （ROS）. The influence of the cytochrome P450 superfamily is manifested as reducing the substrate affinity， activity， and expression of cytochrome P450 3A （CYP3A）， cytochrome P450 2C9 （CYP2C9）， cytochrome P450 2C19 （CYP2C19）， and cytochrome P450 1A2 （CYP1A2）. Promoting the transformation of macrophages into the M1 type is related to the secretion of inflammatory factors and the accumulation of endotoxin， and the internal rhythmic regulation of the biological clock gene Clock， is related to the expression of cytochrome P450 3A11 （CYP3A11） metabolic enzyme. The detoxification strategies in the clinical application include herbs-processing detoxification strategy and drug-pairing detoxification. The traditional Chinese medicines and monomers that are helpful for detoxification include Glycyrrhiza uralensis， Paeonia lactiflora， Lysimachia christinae， Rehmannia glutinosa， saffron， and paeoniflorin. The reviews and discussion about these topics can help to provide more references for related research and clinical application of TP.

High risk factors in images for infiltrating lung adenocarcinoma manifesting as peripheral ground-glass nodules / 中国胸心血管外科临床杂志

@#Objective     To explore the correlation between the imaging features of peripheral ground-glass pulmonary nodules and the invasion degree of lung adenocarcinoma, and the high risk factors for infiltrating lung adenocarcinoma under thin-slice CT, which provides some reference for clinicians to plan the surgical methods of pulmonary nodules before operation and to better communicate with patients, and assists in building a clinical predictive model for invasive adenocarcinoma. Methods    Clinical data of the patients with peripheral ground-glass pulmonary nodules (diameter≤3 cm) in thin-slice chest CT in the First Affiliated Hospital of Soochow University from January 2019 to January 2020 were continuously collected. All patients underwent thin-slice CT scan and thoracoscopic surgery in our center. According to the pathological examination results, they were divided into two groups: an adenocarcinoma lesions before infiltration group, and an invasive lung adenocarcinoma group. The thin-slice CT imaging parameters of pulmonary nodules were collected. The nodular diameter, mean CT value, consolidation tumor ratio (CTR), nodular shape, vacuolar sign, bronchial air sign, lobulation sign, burr sign, lesion boundary, pleural depression sign, vascular cluster sign and other clinical data were collected. Univariate and multivariate analyses were conducted to analyze the independent risk factors for the infiltrating lung adenocarcinoma, and to analyze the threshold value and efficacy of each factor for the identification of infiltrating lung adenocarcinoma. Results     Finally 190 patients were enrolled. There were 110 patients in the adenocarcinoma lesions before infiltration group, including 21 males and 89 females with a mean age of 53.57±10.90 years, and 80 patients in the invasive lung adenocarcinoma group, including 31 males and 49 females with a mean age of 56.45±11.30 years. There was a statistical difference in the mean CT value, nodular diameter, CTR, gender, smoking, nodular type, nodular shape, vacuolar sign, lobulation sign, burr sign, lesion boundary, pleural depression sign, vascular cluster sign between the two groups (P<0.05). However, there was no statistical difference between the two groups in age (P=0.081), lesion site (P=0.675), and bronchial air sign (P=0.051). Multiple logistic regression analysis showed that nodular diameter, mean CT value, CTR and lobulation sign were independent risk factors for differentiating preinvasive adenocarcinoma from invasive adenocarcinoma. At the same time, the threshold value was calculated by Youden index, indicating that the CTR was 0.45, the nodal diameter was 10.5 mm and the mean CT value was –452 Hu. Conclusion     In the peripheral ground-glass pulmonary nodules, according to the patient's CT imaging features, such as mixed ground-glass nodules, irregular shapes, vacuoles, short burrs, clear boundaries, pleural indentations, and vascular clusters, have a certain reference value in the discrimination of the invasion degree of ground-glass pulmonary nodules. At the same time, it is found in this research that peripheral ground-glass pulmonary nodules with diameter greater than 10.5 mm, CT value greater than –452 Hu, CTR greater than 0.45 and lobulation sign are more likely to be infiltrating lung adenocarcinoma.

Clinical characteristics and influencing factors of chronic obstructive pulmonary disease in patients with non-small cell lung cancer in Hubei province / 公共卫生与预防医学

Objective To analyze the clinical characteristics and influencing factors of non-small cell lung cancer (NSCLC) patients with chronic obstructive pulmonary disease (COPD) in Hubei province, and to provide a theoretical basis for the diagnosis and treatment of NSCLC patients with COPD. Methods A total of 246 NSCLC patients admitted to our hospital from 2018 to 2020 were selected and divided into control group (without COPD, n=125) and observation group (with COPD, n=121) according to COPD. The clinical characteristics of chest pain, hemoptysis, emasculation, atelectasis and pleural effusion were compared between the two groups. The values of FEV1/FVC, RV/TLC and DLCO in the two groups were measured by pulmonary function detector. The age, gender, smoking, smoking history, proportion of lung squamous cell carcinoma, TNM stage and other clinical data of all subjects were analyzed by self-made survey scale of our hospital. Univariate analysis and logistic regression were used to analyze the risk factors of COPD in NSCLC patients. Results Among 246 NSCLC patients, 121 patients (49.19%) were complicated with COPD, including 76 males and 45 females, and there was a statistical difference between the two groups (χ2=4.891, P>0.05). The average age of the observation group (61.02±4.82) was significantly higher than that of the control group (59.76±4.73) (t=2.069, P0.05). Male (OR=2.982), smoking history (OR=2.623) and lung squamous cell carcinoma (OR=3.147) were risk factors for COPD in NSCLC patients (P<0.05). Conclusions NSCLC patients with COPD are more common in male smokers in Hubei Province, often accompanied by pleural effusion , severe hemoptysis and other symptoms , and their lung function is decreased. Early detection and standardized treatment of COPD in the treatment of NSCLC can improve the prognosis of patients.

Neuromarkers based on EEG Statistics in Time and Frequency Domains to Detect Tinnitus / Neuromarcadores basados en Estadística de EEG en el Dominio Temporal y Frecuencial para Detectar Acufeno

Abstract: Tinnitus detection and characterization requires a carefully elaborated diagnosis mainly owing to its heterogeneity nature. The present investigation aims to find features in Electroencephalographic (EEG) signals from time and frequency domain analysis that could distinguish between healthy and tinnitus sufferers with different levels of hearing loss. For this purpose, 24 volunteers were recruited and equally divided into four groups: 1) controls, 2) slow tinnitus, 3) middle tinnitus and 4) high tinnitus. EEG signals were registered in two states, with eyes closed and opened for 60 seconds. EEG analysis was focused on two bandwidths: delta and alpha band. For time domain, the EEG features estimated were mean, standard deviation, kurtosis, maximum peak, skewness and shape. For frequency domain, the EEG features obtained were mean, skewness, power spectral density. Normality of EEG data was evaluated by the Lilliefors test, and as a result, the nonparametric technique Kruskal-Wallis H statistic to test significance was applied. Results show that EEG features are more differentiable between tinnitus sufferers and controls in frequency domain than in time domain. EEG features from tinnitus patients with high HL are significantly different from the rest of the groups in alpha frequency band activity when shape and skewness are computed.

Resumen: La detección y caracterización del acúfeno requiere un diagnóstico cuidadosamente elaborado debido principalmente a su naturaleza heterogénea. La presente investigación tiene como objetivo encontrar características en las señales electroencefalográficas (EEG) a partir del análisis del dominio del tiempo y frecuencia que podrían distinguir entre pacientes sanos y con acúfeno con diferentes niveles de pérdida auditiva. Para ello, se reclutaron 24 voluntarios y se dividieron por igual en cuatro grupos: 1) controles, 2) acúfeno bajo, 3) acúfeno medio y 4) acufeno alto. La actividad EEG se registró en reposo en dos condiciones: ojos cerrados y abiertos durante un minuto. El análisis de EEG se centró en anchos de banda delta y alfa. Para el dominio del tiempo, las características del EEG estimadas fueron la media, la desviación estándar, la curtosis, el pico máximo, la asimetría y la forma. Para el dominio de la frecuencia, las características de EEG obtenidas fueron media, asimetría, densidad espectral de potencia. La normalidad de los datos del EEG se evaluó mediante la prueba de Lilliefors y, como resultado, se aplicó la técnica no paramétrica del estadístico H de Kruskal-Wallis para probar la significación. Los resultados muestran que las características del EEG son más diferenciables entre los pacientes con acúfeno y los controles en el dominio de la frecuencia que en el dominio del tiempo. Las características del EEG de los pacientes con acúfeno con alta pérdida de audición son significativamente diferentes del resto de los grupos en la actividad de la banda de alfa cuando se calculan la forma y la asimetría.

Relationship between age and the histopathological features to chemotherapy response in colorectal cancer patients: a prospective observational study

Introduction: Chemotherapy response in early age-onset colorectal cancer patients is still controversial, and the results of chemotherapy response are unknown. Therefore, the purpose of this study is to determine the relationship between the age of colorectal cancer patients and histopathological features and chemotherapy response. Methods: This is a prospective observational study. The subjects in this study were colorectal cancer patients in the Digestive Surgery division at Tertiary Hospital in West Java from September 2021 to September 2022. Results: There were 86 subjects who underwent chemotherapy in accordance with the inclusion and exclusion criteria. Consisting of 39 patients of early age onset and 44 female patients. The most common histopathological feature in early age onset (EAO) and late age onset (LAO) was adenocarcinoma (25% and 46%, respectively). Stage III colorectal cancer affected 38 patients, while stage IV affected 48 patients. There was a significant relationship between early age onset and late age onset with histological features (p < 0.001). The patients with the highest chemotherapy response had stable diseases in EAO (17 patients) and LAO (20 patients). There was no statistically significant relationship between age, histological features, and stage of colorectal cancer and chemotherapy response (p > 0.05). The results of the ordinal logistic regression test showed no systematic relationship between chemotherapy response and age, histopathological features, gender, or cancer stage (p > 0.05). Conclusion: There was no association between age and histopathologic features with chemotherapy response and there is no difference in chemotherapy response between early and late age onset. (AU)

Características clínico- patológicas y evolución del cáncer de mama en pacientes asistidas en la Unidad de Mastología del Hospital de Clínicas

Introducción: En Uruguay el cáncer de mama (CM) ocupa el primer lugar en incidencia y mortalidad por cáncer en la mujer, se trata de una enfermedad multifactorial que guarda relación con la herencia genética, historial hormonal estrogénico, estilo de vida, factores ambientales y culturales. Objetivos: investigar las características clínico-patológicas de pacientes con CM diagnosticadas en el Hospital de Clínicas y evaluar la sobrevida global total (SVG) y de acuerdo al subtipo biológico. Metodología: se recolectaron datos relacionados con las características clínico-patológicas y la evolución de pacientes tratadas por CM en el período comprendido entre el 1º de enero del 2011 y 31 de diciembre de 2020 asistidas en la Unidad de Mastología del Hospital de Clínicas. Se calculó la SVG para todas las pacientes, globalmente, y según el subtipo biológico. Resultados: se incluyeron 390 pacientes. Las características clínico-patológicas fueron: carcinoma ductal: 83%, estadio: in situ (1.8 %), I (27.7 %), II (29.7 %), III (23.6%), IV (12.6 %). Con respecto al perfil biológico: 235 tumores (60.3%) fueron RRHH+ HER 2−, 88 tumores (22.6%) fueron HER2 +, mientras que otros 41 tumores (10.5%) fueron clasificados como triple negativos (TN). La SVG para la totalidad de las pacientes tuvo una mediana de 92 meses. Las tasas de SVG a 2 y 5 años fueron para las luminales de 92% y 64%; en las TN la tasa de SVG a 24 meses fue de 69%, siendo a 5 años de 53.3% y en las HER2 + 76.6% y 67.3% respectivamente. Conclusiones: La mayoría de los tumores fueron diagnosticados en estadios precoces, siendo estos datos son concordantes con los reportados en estudios realizados a nivel nacional. La frecuencia de tumores RE/RP+ algo inferior a la reportada en estudios previos (70%) a nivel nacional, mientras que la de tumores HER 2 + TN fue similar a la reportada en estudios europeos, norteamericanos y en Latinoamérica donde se la prevalencia encontrada es del 20%

Introduction: In Uruguay, breast cancer (BC) ranks first in incidence and mortality from cancer in women. It is a multifactorial disease that is related to genetic inheritance, estrogenic hormonal history, lifestyle, environmental and cultural factors. Objectives: to investigate the clinicopathological characteristics of patients with BC diagnosed at the Hospital de Clínicas and to evaluate the overall overall survival (SVG) and according to the biological subtype. Metodology: data related to the clinicopathological characteristics and the evolution of patients treated for BC in the period between January 1, 2011 and December 31, 2020 assisted in the Mastology Unit of the Hospital de Clínicas were collected. Overall survival (SVG) was calculated for all patients, globally, and according to biological subtype. Results: 390 patients were included. The clinicopathological characteristics were: ductal carcinoma: 83%, stage: in situ (1.8%), I (27.7%), II (29.7%), III (23.6%), IV (12.6%). Regarding the biological profile: 235 tumors (60.3%) were HR+ HER 2−, 88 tumors (22.6%) were HER2 +, while another 41 tumors (10.5%) were classified as triple negative (TN). The SVG for all the patients had a median of 92 months. SVG rates at 2 and 5 years were 92% and 64% for luminals; in TN the 24-month survival rate was 69%, being 53.3% at 5 years and in HER2 + 76.6% and 67.3% respectively. Conclusions: Most of the tumors were diagnosed in early stages, these data being consistent with those reported in studies carried out at the national level. The frequency of ER/RP+ tumors was somewhat lower than that reported in previous studies (70%) at the national level, while that of HER 2 + TN tumors was similar to that reported in European, North American and Latin American studies where the prevalence found is 20%

Introdução: No Uruguai, o câncer de mama (CM) ocupa o primeiro lugar em incidência e mortalidade por câncer em mulheres. É uma doença multifatorial que está relacionada à herança genética, história hormonal estrogênica, estilo de vida, fatores ambientais e culturais. Objetivos: investigar as características clinicopatológicas dos pacientes com CM diagnosticados no Hospital de Clínicas e avaliar a sobrevida global (OSV) e segundo o subtipo biológico. Material e método: foram coletados dados referentes às características clínico-patológicas e à evolução dos pacientes atendidos por CM no período de 1º de janeiro de 2011 a 31 de dezembro de 2020 atendidos na Unidade de Mastologia do Hospital de Clínicas. A sobrevida global (SVG) foi calculada para todos os pacientes, globalmente e de acordo com o subtipo biológico. Resultados: 390 pacientes foram incluídos. As características clínico-patológicas foram: carcinoma ductal: 83%, estádio: in situ (1,8%), I (27,7%), II (29,7%), III (23,6%), IV (12,6%). Quanto ao perfil biológico: 235 tumores (60,3%) eram HR+ HER 2−, 88 tumores (22,6%) eram HER2+, enquanto outros 41 tumores (10,5%) foram classificados como triplo negativo (TN). O SVG para todos os pacientes teve uma mediana de 92 meses. As taxas de SVG aos 2 e 5 anos foram de 92% e 64% para luminais; em TN a sobrevida em 24 meses foi de 69%, sendo 53,3% em 5 anos e em HER2 + 76,6% e 67,3%, respectivamente. Conclusões: A maioria dos tumores foi diagnosticada em estágios iniciais, sendo esses dados consistentes com os relatados em estudos realizados em nível nacional. A frequência de tumores ER/RP+ foi um pouco menor do que a relatada em estudos anteriores (70%) em nível nacional, enquanto a de tumores HER 2 + TN foi semelhante à relatada em estudos europeus, norte-americanos e latino-americanos, onde a prevalência encontrado é 20%

Câncer colorretal de início precoce: uma análise de onze anos das características clinicopatológicas em um centro de saúde terciário / Early-onset colorectal cancer: an eleven-year analysis of clinicopathological characteristics at a tertiary healthcare center

ABSTRACT Background: Early-onset colorectal cancer (EO-CRC) incidence has increased significantly worldwide in recent years, and these individuals frequently have advanced disease at the time of diagnosis. This study examines the clinicopathological characteristics of EO-CRC cases diagnosed at an academic healthcare center in Spain. Methods: A retrospective record review study of patients diagnosed with EO-CRC from 2010 to 2021 was performed. Clinical and pathological data were collected. Results: A total of 101 patients were included. The majority of cases (75.3%) were diagnosed in the age group between 40 and 49 years, specifically within the subgroup of 46-49 years. A family history of colorectal cancer was found in 23% of patients. Left-sided tumors were more common (43.6%), and most patients were diagnosed at advanced stages (34.7% at stage III and 32.7% at stage IV). The majority of patients (94.1%) were symptomatic, with rectal bleeding being the most prevalent clinical presentation. The most frequent histological type was moderately differentiated adenocarcinoma (44.6%). KRAS mutant tumors were found in 18.8% and BRAF mutant tumors in 11.9%. 67.3% had microsatellite stability. Tumor recurrence occurred in 24.8% of the patients, while 27.7% of the patients died. Conclusion: From 2010 to 2021, EO-CRC accounted for 3% of all colorectal cancer cases. To improve early diagnosis and treatment, physicians should maintain a high suspicion of red flag symptoms in young patients. To decrease EO-CRC morbidity and mortality, starting diagnostic screening tests at age 45 should be considered.

RESUMO Contexto: A incidência de câncer colorretal de início precoce (CCR-IP) tem aumentado significativamente em todo o mundo nos últimos anos, e esses indivíduos frequentemente apresentam doença avançada no momento do diagnóstico. Este estudo examina as características clinicopatológicas dos casos de CCR-IP diagnosticados em um centro de saúde acadêmico na Espanha. Métodos: Realizado um estudo retrospectivo de revisão de prontuários de pacientes diagnosticados com CCR-IP de 2010 a 2021. Dados clínicos e patológicos foram coletados. Resultados: Foram incluídos um total de 101 pacientes. A maioria dos casos (75,3%) foi diagnosticada na faixa etária entre 40 e 49 anos, especificamente dentro do subgrupo de 46 a 49 anos. Histórico familiar de câncer colorretal foi encontrado em 23% dos pacientes. Tumores do lado esquerdo foram mais comuns (43,6%), e a maioria dos pacientes foi diagnosticada em estágios avançados (34,7% no estágio III e 32,7% no estágio IV). A maioria dos pacientes (94,1%) apresentava sintomas, sendo o sangramento retal a apresentação clínica mais prevalente. O tipo histológico mais frequente foi adenocarcinoma moderadamente diferenciado (44,6%). Tumores com mutação KRAS foram encontrados em 18,8% e tumores com mutação BRAF em 11,9%. 67,3% apresentavam estabilidade de microssatélites. A recorrência do tumor ocorreu em 24,8% dos pacientes, enquanto 27,7% dos pacientes morreram. Conclusão: De 2010 a 2021, o CCR-IP representou 3% de todos os casos de câncer colorretal. Para melhorar o diagnóstico precoce e o tratamento, os médicos devem manter uma alta suspeita de sintomas de alerta em pacientes jovens. Para diminuir a morbidade e a mortalidade do CCR-IP, a consideração de iniciar exames de triagem diagnóstica aos 45 anos deve ser considerada.

Bullous pemphigoid in India: Review of cases registered in an autoimmune bullous disease clinic

Background: Information on bullous pemphigoid in an Indian context is scarce. Aim: To report clinico-demographic profile, associated comorbidities and prescription pattern of bullous pemphigoid patients in India. Methods: This was a retrospective study, where past records of all bullous pemphigoid patients diagnosed and treated between November 2013 and October 2019 were accessed and analysed. Patients having a compatible clinical presentation with either histopathological and/or direct immunofluorescence evidence of bullous pemphigoid were included. Results: There were 96 bullous pemphigoid patients, with a male: female ratio of 1.6:1. The mean age at diagnosis was 62.5 ± 2.2 years, with mean duration of illness 27.5 ± 4.5 months before presentation. Comorbidities were present in 80 (83%) patients, with type 2 diabetes mellitus (38.5%), hypertension (36.4%) and neurological illness (16.7%) being the commonest ones. Clinically, blisters were the predominant presentation in 81 (84.4%) patients. The majority (87.5%) of patients showed a predominant eosinophilic infiltrate on histopathology. Direct immunofluorescence revealed immunoglobulin G deposits with complement C3 in 77 (80.2%) cases. The majority of patients (77.1%) were treated with oral prednisolone, either alone (11.5%) or in combination (65.6%) with other topical and systemic agents. Topical steroids were used in 29.1%, azathioprine in 28%, dapsone in 16.7% and omalizumab in 6.2% of patients. Limitations: The study is retrospective. Immunofluorescence on salt split skin, direct immunofluorescence serration pattern analysis, and immunoblotting were not performed. Hence, there is a possibility that a few included cases were suffering from other subepidermal autoimmune bullous diseases like epidermolysis bullosa acquisita or anti-p200 pemphigoid. Conclusion: Bullous pemphigoid patients in this study had a younger age of onset and showed male preponderance. Comorbidities like type 2 diabetes, hypertension and neurological disorders were freq

Biphenotypic sinonasal sarcoma—A recently described entity with many mimics: A case report

Biphenotypic sinonasal sarcoma (BSNS) is a recently described, low-grade, slow-growing sarcoma with neural and myogenic features with exclusive location in sinonasal track and characteristic PAX3- MAML3 gene fusion. Differentiating this tumor from its commoner mimics needs knowledge of this entity to avoid over treatment. This tumor has unique morphology, clinical course, and genetics. We report this in a 47-year-old female who was diagnosed with such a rare, solitary fibrous tumor—hemangiopericytoma (HPC-SFT) on limited initial biopsy. On subsequent excision, typical morphology and immunohistochemistry helped to clinch the diagnosis.

NARRATIVE REVIEW OF PSORIASIS: PATHOGENESIS, CLINICAL FEATURES AND MANAGEMENT STRATEGIES

Psoriasis is a chronic autoimmune disorder that affects approximately 2-3% of the global population. It is characterized by red, scaly, and itchy patches on the skin that can cause signicant discomfort and have a negative impact on patients' quality of life. Despite being a well-known condition, the pathogenesis of psoriasis remains poorly understood, and there is no cure for the disease. Therefore, the management of psoriasis primarily focuses on symptom relief and improving patients' quality of life. The epidemiology of psoriasis varies by geographic location, ethnicity, and age, with some studies suggesting a higher prevalence among certain populations. The most common subtype of psoriasis is plaque psoriasis, which is characterized by erythematous plaques covered with silvery scales. Other clinical subtypes include guttate psoriasis, pustular psoriasis, erythrodermic psoriasis, and inverse psoriasis. Each subtype has unique clinical features and requires specic management strategies. Epidemiological studies have identied several risk factors for psoriasis, including family history, smoking, obesity, and stress. The exact mechanisms by which these factors contribute to the development and progression of psoriasis are not fully understood. However, it is thought that genetic and environmental factors interact to disrupt the normal immune response and trigger the inammatory cascade that drives psoriasis pathogenesis

Comparative study of the clinicoepidemiological profile of COVID-19 patients of first wave and second wave admitted in a tertiary care teaching hospital in Nadiad, Gujarat, India

Background: According to other studies, second wave was different as compared to the first wave in clinical outcomes and laboratory parameters. Aims and Objectives: We aimed to compare the clinicoepidemiological features and their effect on mortality in coronavirus disease-2019 (COVID-19) patients of first wave versus second wave. Materials and Methods: We carried out cross-sectional, observational, and retrospective study among two groups of COVID-19 patients of first and second wave. Each group contains a 135 patients of COVID-19 admitted at our hospital. We analyzed the demographic profile, clinical features, comorbidities, and inflammatory markers. Results: In our study, majority patients were male (67%). Majority number of the patients were between 18 and 60 years of age in both the groups. Presenting complaint of shortness of breath was significantly higher in second wave and sore throat was significantly higher in first wave. SpO2 on admission was significantly lower in second wave (93% vs. 98%). Median value of C-reactive protein (6.865 vs. 2.805), neutrophil-leucocyte ratio (4.647 vs. 2.917), and D-dimer (679.5 vs. 450) were significantly higher in second wave. Second wave had significantly higher mortality as compared to first wave (18.5% vs. 4.4%). However, level of D-dimer was found significantly higher in patients who died during first wave (6820 vs. 848). Higher mortality was seen in male patients of second wave. Conclusion: Overall higher mortality was seen during the second wave which was supported by increased in the inflammatory markers. Delta variant, late admission, increased demand of oxygen support, and intensive care unit beds may have led to higher mortality.

Carcinoma mucinoso de mama: una estirpe histológica rara de pronóstico favorable / Mucinous Carcinoma of the Breast: A Rare Histological Type with a Favorable Prognosis

Resumen El carcinoma mucinoso es una estirpe poco frecuente de cáncer de mama, la cual representa menos del 4% de todos los cánceres primarios. Suele presentarse en pacientes postmenopáusicas, alrededor de la séptima década de la vida. Clínicamente se caracteriza por manifestarse como un nódulo palpable, rara vez acompañado de otra sintomatología. Las herramientas de imagen, como la mastografía y el ultrasonido, son fundamentales para su diagnóstico; sin embargo, en algunas situaciones se puede subestimar el diagnóstico dado a las características similares que comparte con otras lesiones benignas. El diagnóstico definitivo se realiza por medio de histopatología. Debido a la rareza de estos tumores, no existe un consenso sobre el tratamiento más adecuado. Muchos autores concuerdan que la intervención quirúrgica continúa siendo la piedra angular, ya que tiene un impacto positivo en la supervivencia y baja incidencia de recurrencias. Esta se puede acompañar posteriormente de terapias endocrinas adyuvantes. Afortunadamente, el pronóstico de este tipo de tumores suele ser favorable, incluso la supervivencia supera el 90% a los 5 años.

Abstract Mucinous carcinoma is a rare type of breast cancer, which represents less than 4% of all primary cancers. It usually occurs in postmenopausal patients, around the seventh decade of life. Clinically, it is characterized by the presence of a palpable nodule, rarely accompanied by other symptoms. Imaging tools, such as mammogram and ultrasound, are essential for its diagnosis, however, in some situations the diagnosis can be underestimated due to the similar characteristics that it shares with other benign lesions. Definitive diagnosis is made by histopathology. Regarding treatment, there is no consensus on the most appropriate, due to the low incidence of these tumors. Many authors agree that surgical intervention continues to be the best option, showing a positive impact on survival and low recurrences. This can be accompanied later by adjuvant endocrine therapies. Fortunately, the prognosis of this type of tumor is usually favorable, even survival exceeds 90% at 5 years.

Epidemiological analysis of notifiable infectious diseases in preschool children in Pudong New Area of Shanghai in 2005-2021 / 公共卫生与预防医学

Objective　 To provide a scientific basis for the prevention and control of notifiable infectious diseases in preschool children, and to improve the service level of children's health management.　 Methods Infectious disease information was obtained from the Infectious Diseases Reporting Information System of Chinese Center for Disease Control and Prevention, and the number of permanent residents was obtained from Shanghai Statistical Yearbook. Excel 2019 was used to organize and calculate data and draw charts. Descriptive statistical methods were used for analyzing disease ranking and epidemic trends. Seasonal characteristics were calculated by concentration M value and circular distribution, α=0.05.　 Results　 In the reports of notifiable infectious diseases for preschool children, boys (60.93%) were significantly more than girls, and the largest number of children reported were 3-4 years old (43.19%). The unit with the largest number of reports was Shanghai Children's Medical Center (47.31%). The order of the diseases was hand, foot, and mouth disease (HFMD), chickenpox, mumps, scarlet fever, influenza, and infectious diarrhea. HFMD accounted for 73.52% of the total (46 541/63 304). The incidence of notifiable infectious diseases among preschool children had been increasing since 2005, reaching a peak in 2014, and then showing a downward trend overall. In the 17 years from 2005 to 2021, there were 3 years (2008, 2010, and 2018) with a concentration M value of 0.3-0.5, indicating that there was a certain seasonality, and one year (2020) with an M value of 0.5-0.7, indicating obvious seasonality. The peak of incidence mostly occurred from June to August.　 Conclusion 　It is suggested to strengthen the health guidance of HFMD in preschool children and increase the vaccination rate of HFMD vaccine to reduce the health harm of HFMD to preschool children. The prevention and control of COVID-19 has had an inhibitory effect on the occurrence of notifiable infectious diseases in preschool children.

Research progress in imaging features of pachychoroid spectrum diseases / 国际眼科杂志(Guoji Yanke Zazhi)

Pachychoroid spectrum diseases(PSD)have been defined as a group of diseases with similar choroidal features and pathological processes, such as central serous chorioretinopathy(CSC), polypoidal choroidal vasculopathy(PCV), etc. The main features are the changes in the thickness of vascular layers of the choroid and increasing vascular permeability. The development of modern ophthalmic imaging devices represented by optical coherence tomography angiography(OCTA)allowed intuitive investigation of the changes in the choroidal vascular layers, which gives a new insight into the pathogenesis of this spectrum diseases. This article summarizes the common clinical characteristics of healthy individuals and PSD and reviews the latest imaging findings. Whether each type of PSD is a phenotype of the same disease at different stages or other with similar characteristics was discussed from different perspectives, such as genetic background and anatomical structure, providing a reference for the study of pathogenesis, early clinical diagnosis, and prevention and treatment of this disease.

Multimodal imaging features of dome-shaped macula with subretinal fluid in adolescents with high myopia / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To observe the multimodal image features of dome-shaped macula(DSM)with subretinal fluid(SRF)in adolescents with high myopia, and investigate its typical features and identification methods.METHODS: This is a retrospective study. A total of 21 adolescent patients(39 eyes)who were diagnosed as DSM in high myopic eyes with SRF in the macula area in our hospital from January 2021 to May 2022 were selected. All patients underwent color fundus photography(CFP), fundus autofluorescence(FAF), spectral-domain optical coherence tomography(SD-OCT), optical coherence tomography angiography(OCTA)and electro oculography(EOG). Among them, 18 patients(36 eyes)underwent fundus fluorescein angiography(FFA), and they were followed-up for 12mo to record the change of the central macular thickness(CMT).RESULTS: Fundus examination showed tessellated retina in affected eyes, and the deposition of granular material could be seen in the fovea of the macular area. SD-OCT showed a dome-like bulge of the whole layer in the macular area, localized detachment of the subfoveal nerve epithelial layer, the medium and high reflection attachment on the inner surface of the outer membrane, and the heterogeneous reflection of the retinal pigment epithelium(RPE)layer. FAF showed a mild “bull's eye sign” change in the macular area. FFA showed granular transmitted fluorescence around the foveal avascular zone. En face of OCTA could see a clear boundary of the neuroepithelial detachment zone. When the tangential line corresponds to the ellipsoid zone-RPE layer, the granular high reflection in different sizes scattered in the neuroepithelial detachment zone could be seen, and no obvious choroidal neovascularization(CNV)was formed. During the follow-up of OCTA, SRF in the macular area can be spontaneously increased or absorbed irregularly. EOG indicates that the ratio of light peak to dark trough(LP/DT, i.e. Arden ratio)was normal, with an Arden ratio&#x0026;#x003E;1.55. CMT at 1, 3, 6, 12mo(247.10±13.03, 246.62±12.23, 248.05±14.00, 247.92±11.66 μm)during follow-up period were compared with baseline(246.95±11.46 μm), and the difference was not statistically significant(F=0.144, P=0.965).CONCLUSION: Multimodal imaging is helpful in the clinical diagnosis of DSM with SRF in the macula area in high myopic eyes of adolescents, and plays an important role in the differential diagnosis of the early stage of typical Best disease.