Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso / Prenatal diagnosis of congenital chloride diarrhea: A case report

La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.

Achados incomuns em ressonância magnética de pacientes com implantes mamários / Unusual findings on MRI of patients with breast implants

Introdução: O implante de prótese mamárias é uma das cirurgias mais realizadas no mundo. Ao longo do tempo, diversos materiais foram utilizados com objetivo de reconstituir o volume mamário. Apesar das melhorias técnicas, cirúrgicas e da segurança dos implantes atuais, os pacientes são confrontados com potenciais complicações "não usuais": rupturas intracapsulares e extracapsulares, hematomas tardios e deformidade de contorno, silicone intralinfonodal ou herniação da cápsula fibrosa. A ressonância magnética (RMN) é a modalidade de imagem mais útil para investigação dessas complicações. Método: Trata-se de uma série de casos em que foram levantadas alterações ditas "não usuais", pela baixa frequência ou ausência na citação da literatura, após cirurgias de inclusão de prótese de silicone. Os dados foram coletados da experiência pessoal da clínica privada de um dos autores, na cidade de Brasília-DF, entre abril de 2015 e março de 2023. Resultados: Foram um total de 211 pacientes avaliados, e foram encontradas alterações menos frequentes nas RMN de 12 pacientes (5,68%), das quais: 5 com volumosa quantidade de líquido pericapsular, 3 com granuloma capsular, 1 seroma tardio com conteúdo hemorrágico,1 rotura intra e extracapsular, 1 nódulo junto à cápsula fibrosa do implante, 2 linfonodopatia axilar ipsilateral, 1 silicone intralinfonodal, 1 edema do músculo peitoral, 2 tumor desmoide e 1 herniação da cápsula fibrosa. Conclusão: Estima-se que existam 50 milhões de mulheres com próteses de mama no mundo. Com base nesse dado, o número de complicações ditas "não usuais" passa a ser um desafio diagnóstico para o cirurgião plástico e o radiologista.

Introduction: Breast prosthesis implantation is one of the most performed surgeries in the world. Over time, different materials were used to reconstitute breast volume. Despite technical and surgical improvements and the safety of current implants, patients are faced with potential "unusual" complications: intracapsular and extracapsular ruptures, late hematomas and contour deformity, intra-nodal silicone, or herniation of the fibrous capsule. Magnetic resonance imaging (MRI) is the most useful imaging modality for investigating these complications. Method: This is a series of cases in which so-called "unusual" changes were reported, due to their low frequency or lack of mention in the literature, after surgeries to include a silicone prosthesis. The data were collected from the personal experience of one of the authors in his private clinic, in the city of Brasília-DF, between April 2015 and March 2023. Results: A total of 211 patients were evaluated, and less frequent changes were found in the MRI of 12 patients (5.68%), of which: 5 with a large amount of pericapsular fluid, 3 with capsular granuloma, 1 late seroma with hemorrhagic content, 1 intra and extracapsular rupture, 1 nodule close to the implant's fibrous capsule, 2 axillary lymph node disease ipsilateral, 1 intra-nodal silicone, 1 pectoral muscle edema, 2 desmoid tumor and 1 herniation of the fibrous capsule. Conclusion: It is estimated that there are 50 million women with breast implants in the world. Based on this data, the number of so-called "unusual" complications becomes a diagnostic challenge for the plastic surgeon and radiologist.

A nomogram to predict the absence of clinically significant prostate cancer in males with negative MRI

ABSTRACT Purpose: To create a nomogram to predict the absence of clinically significant prostate cancer (CSPCa) in males with non-suspicion multiparametric magnetic resonance imaging (mpMRI) undergoing prostate biopsy (PBx). Materials and Methods: We identified consecutive patients who underwent 3T mpMRI followed by PBx for suspicion of PCa or surveillance follow-up. All patients had Prostate Imaging Reporting and Data System score 1-2 (negative mpMRI). CSPCa was defined as Grade Group ≥2. Multivariate logistic regression analysis was performed via backward elimination. Discrimination was evaluated with area under the receiver operating characteristic (AUROC). Internal validation with 1,000x bootstrapping for estimating the optimism corrected AUROC. Results: Total 327 patients met inclusion criteria. The median (IQR) age and PSA density (PSAD) were 64 years (58-70) and 0.10 ng/mL2 (0.07-0.15), respectively. Biopsy history was as follows: 117 (36%) males were PBx-naive, 130 (40%) had previous negative PBx and 80 (24%) had previous positive PBx. The majority were White (65%); 6% of males self-reported Black. Overall, 44 (13%) patients were diagnosed with CSPCa on PBx. Black race, history of previous negative PBx and PSAD ≥0.15ng/mL2 were independent predictors for CSPCa on PBx and were included in the nomogram. The AUROC of the nomogram was 0.78 and the optimism corrected AUROC was 0.75. Conclusions: Our nomogram facilitates evaluating individual probability of CSPCa on PBx in males with PIRADS 1-2 mpMRI and may be used to identify those in whom PBx may be safely avoided. Black males have increased risk of CSPCa on PBx, even in the setting of PIRADS 1-2 mpMRI

Comparison of Vertebral Artery Ultrasound, Magnetic Resonance Angiography and Digital Subtraction Angiography in the Diagnosis of Vertebral Artery Stenosis in Patients with Posterior Circulation Ischemia

SUMMARY: The aim of this study was to compare the clinical value of vertebral artery ultrasound (VAU), Magnetic Resonance Angiography (MRA) and Digital Subtraction Angiography (DSA) on vertebral artery stenosis in patients with posterior circulation ischemia. Seventy-three patients with posterior circulation ischemia underwent vertebral artery ultrasound and magnetic resonance angiography as well as digital subtraction angiography, and the diagnosis of vertebral artery stenosis (VAS) and the degree of stenosis (normal, mild stenosis, moderate stenosis, severe stenosis, and occlusion) were recorded and compared between digital subtraction angiogram and vertebral artery ultrasound and magnetic resonance angiography. The vertebral artery stenosis rates on digital subtraction angiography and vertebral artery ultrasound were 87.30 % (55/63) and 49.20 % (31/63), respectively, and the difference was statistically significant. The rates of vertebral artery stenosis on digital subtraction angiography and, magnetic resonance angiography was 90.38 % (47/52) and 88.46 % (46/ 52), respectively, and the differences was not statistically significant. The sensitivity, accuracy, negative predictive value, and positive predictive value of vertebral artery ultrasound in diagnosing vertebral artery stenosis were 51.35 %, 54.76 %, 18.18 %, and 95.00 %, respectively, lower than those of magnetic resonance angiography, which were 91.89 %, 90.48 %, 57.14 %, and 97.14 %, respectively. Of the noninvasive imaging techniques, vertebral artery ultrasound does not accurately characterize vertebral artery stenosis and its degree of stenosis. Magnetic resonance angiography effectively screens for vertebral artery stenosis and its degree of stenosis, and can be used as a reliable tool for vertebral artery stenosis in posterior circulation cerebral infarction, and can be used in conjunction with digital subtraction angiogram in order to improve diagnostic convenience and accuracy.

El objetivo de este estudio fue comparar el valor clínico de la ecografía de la arteria vertebral (VAU), la angiografía por resonancia magnética (ARM) y la angiografía por sustracción digital (DSA) en la estenosis de la arteria vertebral en pacientes con isquemia de la circulación posterior. A 73 pacientes con isquemia de la circulación posterior se les realizó una ecografía de la arteria vertebral y una angiografía por resonancia magnética, así como una angiografía por sustracción digital, y se les diagnosticó estenosis de la arteria vertebral (EVA) y el grado de estenosis (normal, estenosis leve, estenosis moderada, estenosis grave, y oclusión) se registraron y compararon la angiografía por sustracción digital y la ecografía de la arteria vertebral y la angiografía por resonancia magnética. Las tasas de estenosis de la arteria vertebral en la angiografía por sustracción digital y la ecografía de la arteria vertebral fueron del 87,30 % (55/63) y del 49,20 % (31/63), respectivamente, y la diferencia fue estadísticamente significativa. Las tasas de estenosis de la arteria vertebral en la angiografía por sustracción digital y la angiografía por resonancia magnética fueron del 90,38 % (47/52) y del 88,46 % (46/52), respectivamente, y las diferencias no fueron estadísticamente significativas. La sensibilidad, precisión, valor predictivo negativo y valor predictivo positivo de la ecografía de la arteria vertebral en el diagnóstico de estenosis de la arteria vertebral fueron 51,35 %, 54,76 %, 18,18 % y 95,00 %, respectivamente, inferiores a los de la angiografía por resonancia magnética, que fueron 91,89 %, 90,48 %, 57,14 % y 97,14 %, respectivamente. De las técnicas de imagen no invasivas, la ecografía de la arteria vertebral no caracteriza con precisión la estenosis de la arteria vertebral y su grado de estenosis. La angiografía por resonancia magnética detecta eficazmente la estenosis de la arteria vertebral y su grado de estenosis, y puede usarse como una herramienta confiable para la estenosis de la arteria vertebral en el infarto cerebral de circulación posterior, y puede ser utilizada junto con la angiografía por sustracción digital para mejorar el diagnóstico y la exactitud.

Infarto agudo al miocardio con arterias coronarias sin lesiones obstructivas (MINOCA): características clínicas de pacientes / Myocardial infarction without obstructive coronary artery disease: clinical characteristics in patients hospitalized in a coronary care unit

Introducción: El término MINOCA (Myocardial Infarction with Non-Obstructive Coronary Arteries) ha cobrado relevancia como diagnóstico de trabajo en el contexto de pacientes con sospecha de isquemia miocárdica y estudio coronario sin lesiones obstructivas. Objetivos: Describir las distintas etiologías y variables clínicas de pacientes con MINOCA hospitalizados en la unidad coronaria de nuestro centro (Hospital de la P Universalidad de Chile) Métodos: Estudio observacional retrospectivo en el que se realizó un análisis descriptivo de las variables estudiadas. Además, se analizó el uso de los métodos de imágenes complementarios y otras variables pronósticas. El seguimiento se realizó dentro del primer año posterior al evento. Resultados: El diagnóstico etiológico más frecuente de los pacientes con MINOCA fue el de miocardiopatía por estrés (MCE). Se incluyeron 55 pacientes, 55% de ellos mujeres. La edad promedio fue 57 años y la frecuencia de factores de riesgo cardiovascular clásicos (FRCV) fue baja. En los pacientes con MCE se observó menores niveles de troponina ultrasensible; mayores niveles de NT-proBNP y mayor mortalidad en comparación a otras etiologías. Conclusiones: El perfil de pacientes con MINOCA hospitalizados en nuestro centro correspondió predominantemente a mujeres postmenopáusicas con baja frecuencia de FRCV. La mortalidad de los pacientes con MINOCA se concentró en el grupo con MCE.

Background: MINOCA (acronym for "Myocardial Infarction with Non-Obstructive Coronary Arteries") is relevant as a working guide in the diagnosis of patients with suspicion of ischemia and absence of obstructive coronary artery disease. Aim: to describe the different causes and clinical variables in patients with MINOCA admitted to a coronary care unit of a University hospital in Santiago, Chile. Methods: this is an observational retrospective analysis of relevant clinical variables in 55 patients finally diagnosed as having MINOCA. Use of image based studies and characteristics related to prognosis were also analyzed. Follow up extended for one year after the event. Results: 55 patients were included, 55% of them women. Mean age was 57 years; presence of traditional risk factors for myocardial infarction was low. The most common eventual etiologic diagnosis was Stress Cardiomyopathy (SCM) in which lower levels of ultrasensitive troponin and higher levels of NT-proBNP were observed. Mortality in SCM was higher than that observed in other etiologies. Conclusion: MINOCA was more frequent in post menopausal women. Mortality was greater in patients with SMC.

Concordancia inter- e intraobservador del puntaje PI-RADS 2.1 del Colegio Americano de Radiología / Intraobserver and interobserver agreement of the American College of Radiology PI-RADS 2.1 score

Resumen Antecedentes: La resonancia magnética (RM) de próstata es uno de los métodos diagnósticos para la identificación del carcinoma de próstata. La escala PI-RADS (Prostate Imaging and Reporting Data System) es el sistema usado para la interpretación de estas imágenes. Es importante, para su reproducibilidad, la estandarización y la evaluación de dicha escala. Objetivo: Determinar la concordancia inter- e intraobservador de la versión 2.1 del PI-RADS. Material y métodos: Estudio observacional retrospectivo, evaluando 129 RM de pacientes con sospecha de cáncer de próstata por tres radiólogos con diferentes años de experiencia y en dos momentos del tiempo, usando el puntaje PI-RADS 2.1. Se evaluó la concordancia intra- e interobservador. Resultados: La concordancia interobservador fue sustancial (kappa > 0,6) en todos los observadores, siendo la categoría 5 la de mayor acuerdo interobservador. Se observó una alta reproducibilidad intraobservardor, con la mayor kappa siendo de 0,856. Cuando se realizó el análisis según años de experiencia de los radiólogos, la concordancia interobservador fue significativa en todos los casos. Conclusiones: El sistema de clasificación PI-RADS 2.1 es reproducible para las diferentes categorías y aumenta la concordancia cuando se trata de lesiones con mayor probabilidad de cáncer clínicamente significativo.

Abstract Background: Magnetic Resonance Imaging (MRI) of the prostate is a key diagnostic tool for identifying prostate carcinoma. The Prostate Imaging-Reporting and Data System (PI-RADS) scale is the standard system for interpreting these images. Standardizing and evaluating this scale is crucial for ensuring consistent and reproducible results. Objective: This study aims to assess both the interobserver and intraobserver agreement of the PI-RADS version 2.1. Material and methods: In this retrospective observational study, 129 prostate MRI scans from patients with suspected prostate cancer were evaluated. Three radiologists, each with different levels of experience, analyzed these scans at two separate times using the PI-RADS 2.1 scoring system. Both intraobserver and interobserver agreements were measured. Results: The study found substantial interobserver agreement (kappa > 0.6) across all categories, with category 5 showing the highest level of agreement. Intraobserver reproducibility was also high, with the highest kappa value reaching 0.856. Further analysis based on the radiologists’ years of experience revealed significant interobserver agreement in all instances. Conclusions: The PI-RADS 2.1 classification system demonstrates high reproducibility across different categories, particularly for lesions more likely to be clinically significant cancers. This underscores its reliability in varied diagnostic scenarios.

Recrecimiento tumoral en pacientes bajo esquema de watch-and-wait en cáncer de recto. Ensayo pictórico / Regrowth during watch-and-wait scheme in rectal cancer. Pictorial essay

Resumen En las últimas décadas, la resonancia magnética (RM) ha cobrado un rol fundamental en el diagnóstico, la estadificación y el seguimiento de los pacientes con cáncer de recto. En la estadificación inicial, que sean o no tumores localmente avanzados es lo que determina el tratamiento neoadyuvante o quirúrgico, respectivamente. Posterior a la neoadyuvancia, los pacientes que logren una respuesta clínica completa pueden ser considerados para la inclusión dentro de un esquema de vigilancia activa, comúnmente conocido como watch and wait (WW). La estrategia WW se basa en tres pilares, que son el examen digital rectal, la endoscopía y la RM, buscando detectar la presencia temprana de recrecimiento tumoral. En relación a la RM, la secuencia potenciada en T2 de alta resolución, junto con la de difusión (DWI) y el mapa de ADC, son las piezas clave para la detección temprana de recrecimiento. La estrategia de WW lleva a evitar cirugías resectivas con una alta morbilidad y deterioro de la calidad de vida. El examen digital rectal y la endoscopía son métodos de vigilancia complementarios a la RM, con su principal limitación en lesiones sin compromiso mucoso. Esta razón posiciona a la RM como un pilar indispensable para su implementación, detectando no solo áreas de recrecimiento parietal, sino también aquellas extramurales no accesibles por los otros métodos de vigilancia. En nuestro conocimiento, este es el primer ensayo iconográfico que se centra en el análisis estricto del recrecimiento tumoral en pacientes bajo esquema de WW por RM. El objetivo es enfatizar el protocolo de estudio en estos pacientes y mostrar las distintas formas de recrecimiento tumoral con el fin de lograr su detección temprana.

Abstract During the last decades, the magnetic resonance imaging (MRI) has become an strategic tool for diagnosis, staging and surveillance in patients with rectal cancer. To differentiate patients with locally advanced rectal tumors from those who do not, determinate neoadjuvant therapy or total mesorectal excision, respectively. After neoadjuvant chemoradiotherapy, those who achieve complete clinical response may be considered for inclusion in an active surveillance scheme known as “watch and wait” (WW). WW strategy consists of three pillars, rectal digital exam, endoscopy and the MRI, and the main purpose is to reach the early detection of tumoral regrowth. Regarding MRI, the high-resolution T2-weighted images in conjunction with DWI, and the ADC map plays a key role in this instance. WW leads to avoid resective surgeries with high morbidity rates. The rectal digital exam and endoscopy are complementaries to MRI, whose main limitation is the detection of lesions with no mucosal involvement. This reason places the MRI as a cornerstone in tumoral regrowth, detecting not only luminal regrowth, but those in which the rectal wall is not involved, and thus, not accessible for the other surveillance methods. To our knowledge, this is the first pictorial essay in which imaging regrowth patterns are described. The purpose of this is to emphasize the MRI protocol study and to describe the different forms of tumoral regrowth in order to reach the early tumoral regrowth detection.

Explante de silicone: a importância da ressonância nuclear magnética das mamas no planejamento préoperatório / Silicone explant: the importance of breast magnetic resonance imaging in preoperative planning

Introdução: A recente preocupação sobre a segurança dos implantes de silicone tem levado muitas mulheres a buscarem a retirada de seus implantes, mesmo sem aparente complicação nas mamas. Por outro lado, muitos cirurgiões não se sentem confortáveis em realizar o explante por receio de que a paciente não gostará do resultado estético após a cirurgia. A ressonância nuclear magnética (RNM) é um recurso valioso para avaliação diagnóstica das mamas e pode ser usada no planejamento do explante. O objetivo é demonstrar como a análise sistematizada das imagens da ressonância magnética das mamas pode auxiliar no planejamento do explante de silicone. Método: Uma análise detalhada dos cortes axial e sagital da RNM foi feita para avaliar a quantidade de tecido em cada mama. Essas imagens foram apresentadas às pacientes durante a consulta pré-operatória para que elas pudessem perceber, com clareza, o quanto o implante influencia no tamanho de suas mamas. No mesmo momento, foram apresentadas fotos de pós-operatório de pacientes com características semelhantes para que a paciente pudesse analisar, de forma mais objetiva, se ficaria satisfeita ou não com a estética das mamas após o explante. Resultados: As pacientes demonstraram alto grau de compreensão das imagens apresentadas e se mostraram satisfeitas com esta análise detalhada de expectativa de resultado. Conclusão: A comparação das imagens da RNM das mamas e das imagens de resultados de pós-operatório confere maior objetividade ao diálogo pré-operatório, favorecendo a compreensão do resultado esperado e trazendo maior clareza à decisão pelo explante.

Introduction: Recent concerns about the safety of silicone implants have led many women to seek the removal of their implants, even without apparent breast complications. On the other hand, many surgeons do not feel comfortable performing the explant for fear that the patient will not like the aesthetic result after surgery. Magnetic resonance imaging (MRI) is a valuable resource for diagnostic evaluation of the breast and can be used in explant planning. The objective is to demonstrate how the systematic analysis of breast MRI images can assist in planning silicone explantation. Method: A detailed analysis of the axial and sagittal MRI sections was performed to assess the amount of tissue in each breast. These images were presented to patients during the preoperative consultation so that they could clearly understand how much the implant influences the size of their breasts. At the same time, post-operative photos of patients with similar characteristics were presented so that the patient could analyze, more objectively, whether or not she would be satisfied with the aesthetics of her breasts after explantation. Results: The patients demonstrated a high degree of understanding of the images presented and were satisfied with this detailed analysis of expected results. Conclusion: The comparison of breast MRI images and postoperative results images provides greater objectivity to the preoperative dialogue, favoring the understanding of the expected result and bringing greater clarity to the decision for explantation.

Acupuncture for generalized anxiety disorder: a study protocol for a randomized controlled trial

During the COVID-19 outbreak, there was a sharp increase in generalized anxiety disorder (GAD). Acupuncture therapy has the advantages of accurate clinical efficacy, safety and reliability, few adverse reactions, and no dependence, and is gradually becoming one of the emerging therapies for treating GAD. We present a study protocol for a randomized clinical trial with the aim of exploring the mechanism of brain plasticity in patients with GAD and evaluate the effectiveness and reliability of acupuncture treatment. Transcranial magnetic stimulation (TMS) will be used to assess cortical excitability in GAD patients and healthy people. Sixty-six GAD patients meeting the inclusion criteria will be randomly divided into two groups: TA group, (treatment with acupuncture and basic western medicine treatment) and SA group (sham acupuncture and basic western medicine treatment). Twenty healthy people will be recruited as the control group (HC). The parameters that will be evaluated are amplitude of motor evoked potentials (MEPs), cortical resting period (CSP), resting motor threshold (RMT), and Hamilton Anxiety Scale (HAMA) score. Secondary results will include blood analysis of γ-aminobutyric acid (GABA), glutamate (Glu), glutamine (Gln), serotonin (5-HT), and brain-derived nerve growth factor (BDNF). Outcomes will be assessed at baseline and after the intervention (week 8). This study protocol is the first clinical trial designed to detect differences in cerebral cortical excitability between healthy subjects and patients with GAD, and the comparison of clinical efficacy and reliability before and after acupuncture intervention is also one of the main contents of the protocol. We hope to find a suitable non-pharmacological alternative treatment for patients with GAD.

Less qualitative multiparametric magnetic resonance imaging in prostate cancer can underestimate extraprostatic extension in higher grade tumors

ABSTRACT Background: Multiparametric magnetic resonance imaging (mpMRI) is increasingly used for risk stratification and preoperative staging of prostate cancer. It remains unclear how Grade Group (GG) interacts with the ability of mpMRI to determine the presence of extraprostatic extension (EPE) on surgical pathology. Methods: A retrospective review of a robotic assisted laparoscopic radical prostatectomy (RALP) database from 2016-2020 was performed. Radiology mpMRI reports by multiple attending radiologists and without clear standardization or quality control were retrospectively assessed for EPE findings and compared with surgical pathology reports. The data were stratified by biopsy-based GG and a multivariable cluster analysis was performed to incorporate additional preoperative variables (age at diagnosis, PSA, etc.). Hazard ratios were calculated to determine how mpMRI findings and radiographic EPE relate to positive surgical margins. Results: Two hundred and eighty nine patients underwent at least one mpMRI prior to RALP. Preoperative mpMRI demonstrated sensitivity of 39.3% and specificity of 88.8% for pathological EPE and had a negative predictive value (NPV) of 49.5%, and positive predictive value (PPV) of 84.0%. Stratification of NPV by GG yielded the following values: GG 1-5 (49.5%), GG 3-5 (40.8%), GG 4-5 (43.4%), and GG 5 (30.4%). Additionally, positive EPE on preoperative mpMRI was associated with a significantly decreased risk of positive surgical margins (RR: 0.655; 95% CI: 0.557-0.771). Conclusions: NPV of prostate mpMRI for EPE may be decreased for higher grade tumors. A detailed reference reading and image quality optimization may improve performance. However, urologists should exercise caution in nerve sparing approaches in these patients.

Role of apparent diffusion map in the evaluation of retinoblastoma

ABSTRACT Purpose: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas. Methods: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation. To analyze the difference in apparent diffusion coefficient values between the two major histopathological prognostic groups, Student's t-test was used for the two groups. All statistical analyses were performed using SPSS version 19.0 for Microsoft Windows (SPSS, Inc., Chicago, IL, USA). Our institutional review board approved this retrospective study without obtaining informed consent. Results: Thirteen children were evaluated, and only eight underwent eye enucleation and were included in the analysis. The others were treated with photocoagulation, embolization, radiotherapy, and chemotherapy and were excluded due to the lack of histopathological results. When compared with histopathology, magnetic resonance imaging demonstrated 100% accuracy in retinoblastoma diagnosis. Optic nerve invasion detection on magnetic resonance imaging showed a 66.6% sensitivity and 80.0% specificity. Positive and negative predictive values were 66.6% and 80.0%, respectively, with an accuracy of 75%. In addition, the mean apparent diffusion coefficient of the eight eyes was 0.615 × 103 mm2/s. The mean apparent diffusion coefficient value of poorly or undifferentiated retinoblastoma and differentiated tumors were 0.520 × 103 mm2/s and 0.774 × 103 mm2/s, respectively. Conclusion: This study revealed that magnetic resonance imaging is useful in the diagnosis of retinoblastoma and detection of optic nerve infiltration, with a sensitivity of 66.6% and specificity of 80%. Our results also showed lower apparent diffusion coefficient values in poorly differentiated retinoblastomas with a mean of 0.520 × 103 mm2/s, whereas in well and moderately differentiated, the mean was 0.774 × 103 mm2/s.

Transcranial magnetic stimulation in the treatment of phantom limb pain: a systematic review / Estimulação magnética transcraniana no tratamento da dor do membro fantasma: uma revisão sistemática

Abstract Background Phantom limb pain (PLP) occurs after amputations and can persist in a chronic and debilitating way. Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive neuromodulation method capable of influencing brain function and modulating cortical excitability. Its effectiveness in treating chronic pain is promising. Objective To evaluate the evidence on the efficacy and safety of using rTMS in the treatment of PLP, observing the stimulation parameters used, side effects, and benefits of the therapy. Methods This is a systematic review of scientific articles published in national and international literature using electronic platforms. Results Two hundred and fifty two articles were identified. Two hundred and forty six publications were removed because they were duplicated or met the exclusion criteria. After selection, six studies were reviewed, those being two randomized clinical trials and four case reports. All evaluated studies indicated some degree of benefit of rTMS to relieve painful symptoms, even temporarily. Pain perception was lower at the end of treatment when compared to the period prior to the sessions and remained during patient follow-up. There was no standardization of the stimulation parameters used. There were no reports of serious adverse events. The effects of long-term therapy have not been evaluated. Conclusion There are some benefits, even if temporary, in the use of rTMS to relieve painful symptoms in PLP. High-frequency stimulation at M1 demonstrated a significant analgesic effect. Given the potential that has been demonstrated, but limited by the paucity of high-quality studies, further controlled studies are needed to establish and standardize the clinical use of the method.

Resumo Antecedentes A dor do membro fantasma (DMF) ocorre após amputações e pode persistir de forma crônica e debilitante. A estimulação magnética transcraniana repetitiva (EMTr) é um método de neuromodulação não invasivo capaz de influenciar a função cerebral e modular a excitabilidade cortical. Sua eficácia no tratamento da dor crônica é promissora. Objetivo Avaliar as evidências sobre a eficácia e segurança do uso da EMTr no tratamento da DMF, observando os parâmetros de estimulação utilizados, efeitos colaterais e benefícios da terapia. Métodos Trata-se de uma revisão sistemática de artigos científicos publicados na literatura nacional e internacional utilizando plataformas eletrônicas. Resultados Foram identificados 252 artigos. Duzentas e quarenta e seis publicações foram removidas por estarem duplicadas ou atenderem aos critérios de exclusão. Após a seleção, foram revisados seis estudos, sendo dois ensaios clínicos randomizados e quatro relatos de caso. Todos os estudos avaliados indicaram algum grau de benefício da EMTr no alívio dos sintomas dolorosos, mesmo que temporariamente. A percepção da dor foi menor ao final do tratamento quando comparada ao período anterior às sessões e permaneceu durante o acompanhamento do paciente. Não houve padronização dos parâmetros de estimulação utilizados. Não houve relatos de eventos adversos graves. Os efeitos da terapia a longo prazo não foram avaliados. Conclusão Existem alguns benefícios, mesmo que temporários, no uso da EMTr para alívio dos sintomas dolorosos na DMF. A estimulação de alta frequência em M1 demonstrou um efeito analgésico significativo. Dado o potencial demonstrado, mas limitado pela escassez de estudos de alta qualidade, são necessários mais estudos controlados para estabelecer e padronizar o uso clínico do método.

Treatment of orbital lymphatic malformation with oral sirolimus: a case report / Malformação linfática orbital tratada com sirolimo oral: relato de caso

ABSTRACT It is estimated that lymphatic malformations in children account for 6% of all benign vascular malformations. New medical therapies have been developed for the management of lymphatic orbital disease. The purpose of this article was to describe a clinical case of orbital venolymphatic malformation in a 10-year-old boy, causing proptosis and palpebral edema. The lesion was initially treated with local sclerotherapy. However, the lesion relapsed, and was successfully treated with oral sirolimus. Prospective studies are warranted to determine the appropriate dose and extend the indications of sirolimus in these patients.

RESUMO A incidência de malformações linfáticas em crianças é estimada em 6% de todas as malformações vasculares benignas. Têm sido desenvolvidos novos tratamento para doenças linfáticas orbitárias. Nosso objetivo é descrever um caso clínico de malformação venolinfática orbitária em um menino de 10 anos de idade, causando proptose e edema palpebral. A lesão foi tratada inicialmente com escleroterapia local. No entanto, a lesão teve recidiva e foi tratada com sucesso com sirolimo oral. Ainda são necessários estudos prospectivos para estabelecer a dose apropriada e a duração do tratamento com sirolimo nesses pacientes.

Glioma of the optic nerve and chiasm: a case report / Glioma óptico-quiasmático: um relato de caso

ABSTRACT This article reports the case of an 11-year-old male patient with a history of proptosis and low progressive visual acuity in the left eye. He presented with a best corrected visual acuity of 20/25 in the right eye and light perception in the left eye. Exotropia and limitation in adduction were observed in the left eye. On automated perimetry, inferiortemporal quadrantopsia was observed in the right eye, while total scotoma was observed in the left eye. On magnetic resonance imaging, there was an expansive lesion in the left optic nerve, extending to the brainstem with chiasmatic involvement. This article aims to report a case of optic pathway glioma, as well as to discuss its clinical findings and their interconnection with the current literature.

RESUMO Este artigo relata o caso de um paciente do sexo masculino, 11 anos de idade, com história de proptose e baixa de acuidade visual progressiva. Ao exame oftalmológico apresentava melhor acuidade visual de 20/25 em olho direito e percepção de luz em olho esquerdo. Existia exotropia e limitação à adução no olho esquerdo. À campimetria automatizada, observou-se quadrantopsia temporal inferior em olho direito e escotoma total em olho esquerdo. À ressonância magnética, evidenciou-se lesão expansiva em trajeto do nervo óptico esquerdo estendendo-se até região do tronco encefálico, com acometimento quiasmático. O objetivo deste artigo é relatar o glioma de vias ópticas, bem como discutir os achados e sua interligação com a literatura atual.

Salivary Metabolites in Patients with Mucopolysaccharidosis

ABSTRACT Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods: The participants were asked to refrain from eating and drinking for one hour before sampling, performed between 7:30 and 9:00 a.m. Samples were centrifuged at 10.000 × g for 60 min at 4°C, and the supernatants (500µl) were stored at −80°C until NMR analysis. The salivary proton nuclear magnetic resonance (1H-NMR) spectra were acquired in a 500 MHz spectrometer, and TOCSY experiments were used to confirm and assign metabolites. Data were analyzed descriptively. Results: Differences in salivary metabolites were found among MPS types and the control, such as lactate, propionate, alanine, and N-acetyl sugar. Understanding these metabolite changes may contribute to precision medicine and early detection of mucopolysaccharidosis and its monitoring. Conclusion: The composition of low molecular weight salivary metabolites of mucopolysaccharidosis subjects may present specific features compared to healthy controls.

Pelvic Diameter is not Associated with Positive Circumferential Resection Margin in Rectal Cancer: Retrospective Analysis of 78 Cases

Abstract Objective To identify if there is an association between pelvic entry and pelvic outlet diameters with increased positive circumferential resection margin (CRM) in rectal cancer. Introduction Positive CRMin rectalcancerisa majorpredictor forlocal anddistant recurrence. Pelvic diameters may be related to the difficulty of dissection, as well as intrinsic tumor characteristics such as tumor size, location, distance from the anal margin, and T stage, which may compromise the integrity of the mesorectum and circumferential margin involvement. Methods A retrospective review of the patient's medical records who underwent surgical resection of rectal adenocarcinoma from January 2012 to June 2022 was performed. The patient's preoperative staging, operative characteristics, and histopathologic outcomes were gathered from the medical records. Preoperative MRI scanning was done in all patients. MRI pelvimetry was done by two observers. CRM involvement was recorded as stated in the pathology report. Pelvimetry variables were dichotomized according to their mean values for correlation analysis. The odds ratio (OR) was calculated from a binary logistics regression model to assess the relation between the positive CRM and the independent variables. Results A total of 78 patients were included in this study. A positive CRM was reported in 10 patients (12.8%). BMI >27.4 + 6.6 (p = 0.02), positive extramural vascular invasion (p = 0.027), positive CRM by MRI scanning (p = 0.004), and anal sphincter involvement (p = 0.03) were associated with positive CRM. Pelvimetry values were not associated with a positive CRM. Conclusion No association was found between the pelvic diameters measured by MRI pelvimetry with a positive CRM.

Computed tomography and magnetic resonance imaging in Brazil: an epidemiological study on the distribution of equipment and frequency of examinations, with comparisons between the public and private sectors / Tomografia computadorizada e ressonância magnética no Brasil: estudo epidemiológico sobre distribuição dos equipamentos, frequência de realização dos exames e comparação entre setores público e privado

Abstract Objective: To compare information on highly complex radiological procedures—computed tomography (CT) and magnetic resonance imaging (MRI)—between the public and private health care systems, across the five regions of Brazil, in terms of the numbers of radiological devices and examinations performed, between 2015 and 2021. Materials and Methods: This was a descriptive time series analysis of secondary data in the public domain, available from the Information Technology Department of the Brazilian Unified Health Care System, an entity of the Brazilian National Ministry of Health (NMH) that is responsible for collecting and storing health-related information in Brazil. The analysis included the numbers of CT and MRI scanners; the volumes and types of examinations; the type of institution (public or private); the regions of the country; and the years (2015 to 2021). Results: Progressive increases in the numbers of CT and MRI devices, as well as in the volumes of examinations, were observed over the years in all regions of the country. The private sector showed higher rates of equipment acquisition and of growth in the number of examinations. However, the public health care system did not reach the equipment targets set by the NMH, whereas the private health care system surpassed those targets. A greater number of examinations were performed in the private sector than in the public sector. Conclusion: During the period evaluated, the public health care system did not meet the equipment or examination targets recommended by the NMH, in any of the regions of the country, unlike the private health care system, which exceeded both in all of the regions.

Resumo Objetivo: Comparar informações sobre procedimentos radiológicos de alta complexidade - tomografia computadorizada (TC) e ressonância magnética (RM) -, considerando o número de aparelhos e o quantitativo de exames nas esferas pública e privada nas cinco regiões brasileiras entre 2015 e 2021. Materiais e Métodos: Trata-se de um estudo descritivo de série temporal que utilizou dados secundários do Departamento de Informática do Sistema Único de Saúde, órgão do Ministério da Saúde (MS) responsável pela coleta e armazenamento das informações relacionadas à saúde no Brasil. Analisamos os números de aparelhos e de exames de TC e RM, considerando os tipos de aparelhos e exames, instituição (pública ou privada), região brasileira e ano (2015 a 2021). Resultados: Houve aumento de aparelhos e exames de TC e RM em todas as regiões ao longo dos anos. A esfera privada apresentou maior aquisição desses aparelhos e crescimento no número de exames. O sistema público não atingiu o número de aparelhos preconizado pelo MS, enquanto o sistema privado superou a recomendação. Observou-se maior número de exames na esfera privada quando comparada à pública. Conclusão: O sistema público não atendeu aos números de aparelhos e exames realizados preconizados pelo MS, diferentemente da esfera privada, em todas as regiões no período estudado.

Analysis of the indications for and results of breast cancer screening by magnetic resonance imaging at a cancer center in Brazil / Análise das indicações e resultados da ressonância magnética para rastreamento de câncer de mama em um centro oncológico brasileiro

Abstract Objective: To evaluate the indications for and results of magnetic resonance imaging (MRI) examinations for breast cancer screening at a cancer center in Brazil. Materials and Methods: This was a retrospective observational study, based on electronic medical records, of patients undergoing MRI for breast cancer screening at a cancer center in Brazil. Results: We included 597 patients between 19 and 82 years of age. The main indications for MRI screening were a personal history of breast cancer, in 354 patients (59.3%), a family history of breast cancer, in 102 (17.1%), and a confirmed genetic mutation, in 67 (11.2%). The MRI result was classified, in accordance with the categories defined in the Breast Imaging Reporting and Data System, as benign (category 1 or 2), in 425 patients (71.2%), probably benign (category 3), in 143 (24.0%), or suspicious (category 4 or 5), in 29 (4.9%). On MRI, 11 malignant tumors were identified, all of which were invasive carcinomas. Among those 11 carcinomas, six (54.5%) were categorized as minimal cancers (< 1 cm), and the axillary lymph nodes were negative in 10 (90.9%). The cancer detection rate was 18.4/1,000 examinations, and the positive predictive value for suspicious lesions submitted to biopsy was 37.9%. Conclusion: In our sample, the main indication for breast MRI screening was a personal history of breast cancer. The results indicate that MRI is a highly accurate method for the early detection of breast neoplasms in this population.

Resumo Objetivo: Avaliar as indicações e resultados de exames de ressonância magnética (RM) para rastreamento de câncer de mama em um centro oncológico no Brasil. Materiais e Métodos: Estudo observacional, realizado mediante análise retrospectiva de pacientes submetidos a RM das mamas para rastreamento de câncer de mama, por meio de revisão do prontuário eletrônico em um centro oncológico. Resultados: Foram incluídas 597 pacientes com idade variando de 19 a 82 anos. As principais indicações para rastreamento foram história pessoal de câncer de mama em 354 (59,3%) pacientes, história familiar em 102 (17,1%) e mutação genética confirmada em 67 (11,2%). O resultado da RM foi benigno (BI-RADS 1 ou 2) em 425 (71,2%) pacientes, provavelmente benigno (BI-RADS 3) em 143 (24,0%) e suspeito (BI-RADS 4 ou 5) em 29 (4,9%). Foram identificados 11 tumores malignos na RM, todos carcinomas invasivos, porcentagem de cânceres "mínimos" (< 1 cm) de 54,5% e porcentagem de axila negativa de 90,9%. A taxa de detecção de câncer na RM foi 18,4/1000 exames e o valor preditivo positivo para as lesões suspeitas submetidas a biópsia foi 37,9%. Conclusão: A principal indicação para RM de rastreamento na nossa população foi história pessoal de câncer de mama. Os resultados mostraram que a RM constitui um método com alta acurácia para detecção precoce de neoplasias da mama nessa população.

Non-invasive hepatic fat quantification: Can multi-echo Dixon help? / Quantificação da gordura hepática não invasiva: multieco Dixon pode ajudar?

Abstract Objective: To evaluate the diagnostic accuracy of multi-echo Dixon magnetic resonance imaging (MRI) in hepatic fat quantification, in comparison with that of magnetic resonance spectroscopy (MRS), on 3.0-T MRI. Materials and Methods: Fifty-five adults with no known liver disease underwent MRI in a 3.0-T scanner for determination of the hepatic fat fraction, with two techniques: multi-echo Dixon, in a manually drawn region of interest (ROI) and in the entire liver parenchyma (automated segmentation); and MRS. The diagnostic accuracy and cutoff value for multi-echo Dixon were determined, with MRS being used as the reference standard. Results: The mean fat fraction obtained by multi-echo Dixon in the manually drawn ROI and in the entire liver was 5.2 ± 5.8% and 6.6 ± 5.2%, respectively, whereas the mean hepatic fat fraction obtained by MRS was 5.7 ± 6.4%. A very strong positive correlation and good agreement were observed between MRS and multi-echo Dixon, for the ROI (r = 0.988, r2 = 0.978, p < 0.001) and for the entire liver parenchyma (r = 0.960, r2 = 0.922, p < 0.001). A moderate positive correlation was observed between the hepatic fat fraction and body mass index of the participants, regardless of the fat estimation technique employed. Conclusion: For hepatic fat quantification, multi-echo Dixon MRI demonstrated a very strong positive correlation and good agreement with MRS (often considered the gold-standard noninvasive technique). Because multi-echo Dixon MRI is more readily available than is MRS, it can be used as a rapid tool for hepatic fat quantification, especially when the hepatic fat distribution is not homogeneous.

Resumo Objetivo: Avaliar a acurácia diagnóstica da técnica multieco Dixon na quantificação da gordura hepática em comparação com a espectroscopia por ressonância magnética (ERM), em exames de RM 3.0-T. Materiais e Métodos: Cinquenta e cinco participantes adultos sem doença hepática conhecida foram submetidos a RM 3.0-T para determinação da fração de gordura hepática, usando duas técnicas: multieco Dixon (em ROI desenhada manualmente e em segmentação automatizada para todo o parênquima hepático) e ERM. A precisão diagnóstica e o valor de corte para multieco Dixon foram determinados usando a ERM como padrão de referência. Resultados: A fração de gordura média usando multieco Dixon na ROI desenhada manualmente e na segmentação automatizada do fígado inteiro foi 5,2 ± 5,8% e 6,6 ± 5,2%, respectivamente. A fração de gordura hepática média usando ERM foi 5,7 ± 6,4%. Correlação positiva muito alta e forte concordância foram observadas entre ERM e multieco Dixon, tanto para ROI (r = 0,988, r2 = 0,978, p < 0,001) quanto para todo o parênquima hepático (r = 0,960, r2 = 0,922, p < 0,001). Correlação positiva moderada foi observada entre a fração de gordura hepática e o índice de massa corpórea dos participantes usando ambas as técnicas de estimativa de gordura. Conclusão: Multieco Dixon demonstrou correlação positiva muito alta e concordância com a ERM (muitas vezes considerada padrão de referência não invasivo) para quantificação de gordura hepática. Uma vez que o multieco Dixon está mais prontamente disponível do que a ERM, pode ser usado como uma ferramenta rápida para a quantificação da gordura hepática, especialmente na distribuição não homogênea da gordura.