ABSTRACT
Abstract In the past decades, an epidemic of chronic kidney disease (CKD) has been associated with environmental and occupational factors (heat stress from high workloads in hot temperatures and exposure to chemicals, such as pesticides and metals), which has been termed CKD of non-traditional origin (CKDnt). This descriptive review aims to present recent evidence about heat stress, pesticides, and metals as possible causes of CKDnt and provide an overview of the related Brazilian regulation, enforcement, and health surveillance strategies. Brazilian workers are commonly exposed to extreme heat conditions and other CKDnt risk factors, including increasing exposure to pesticides and metals. Furthermore, there is a lack of adequate regulation (and enforcement), public policies, and strategies to protect the kidney health of workers, considering the main risk factors. CKDnt is likely to be a significant cause of CKD in Brazil, since CKD's etiology is unknown in many patients and several conditions for its development are present in the country. Further epidemiological studies may be conducted to explore causal associations and estimate the impact of heat, pesticides, and metals on CKDnt in Brazil. Moreover, public policies should prioritize reducing workers´ exposure and promoting their health and safety.
Resumo Nas últimas décadas, uma epidemia de doença renal crônica (DRC) tem sido associada a fatores ambientais e ocupacionais (estresse térmico decorrente de cargas de trabalho elevadas em altas temperaturas e exposição a produtos químicos, como agrotóxicos e metais), denominada DRC de origem não tradicional (DRCnt). Esta revisão descritiva tem como objetivo apresentar evidências recentes sobre estresse térmico, agrotóxicos e metais como possíveis causas de DRCnt e fornecer uma visão geral das estratégias brasileiras de regulamentação, fiscalização e vigilância sanitária relacionadas. Os trabalhadores brasileiros são comumente expostos a condições extremas de calor e outros fatores de risco de DRCnt, incluindo o aumento da exposição a agrotóxicos e metais. Além disso, há uma falta de regulamentação e fiscalização, políticas públicas e estratégias adequadas para proteger a saúde renal dos trabalhadores em relação aos principais fatores de risco. É provável que a DRCnt seja uma causa significativa de DRC no Brasil, uma vez que a etiologia da doença é desconhecida em muitos pacientes e diversas condições para seu desenvolvimento estão presentes no país. Estudos epidemiológicos devem ser realizados para explorar associações causais e estimar o impacto do calor, dos agrotóxicos e dos metais na DRCnt no Brasil. Além disso, as políticas públicas devem priorizar a redução da exposição dos trabalhadores e a promoção de sua saúde e segurança.
ABSTRACT
Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.
Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.
Subject(s)
Humans , Female , Adolescent , Smooth Muscle Tumor/surgery , Smooth Muscle Tumor/diagnosis , Smooth Muscle Tumor/pathology , Leiomyoma/pathology , Leiomyosarcoma/diagnosis , Leiomyosarcoma/pathologyABSTRACT
Objective:To explore the brain activation intensity changes of depressed patients in the phase of expected value (EV), positive prediction error (+ PE) and negative prediction error (-PE) under uncertain (risky, ambiguous) decision-making.Methods:From July 2018 to February 2021, a total of 48 depressed patients in the Affiliated Hospital of Qingdao University were collected (depression group), and 69 sex-, age-, and educational level-matched healthy people were recruited as the control group. All participants completed risky and ambiguous decision-making tasks under the E-Prime system.SA-9800 brain functional audio-visual stimulation system and GE3.0 T functional magnetic resonance imaging (fMRI) scanners were used to conduct synchronous scanning and data acquisition. Using Xjview software to analyze the activation intensity of related brain areas to compare the activity intensity of the two groups.SPSS 16.0 software was used for chi square test, independent sample t-test. Results:Under risky decision-making, compared with the control group, the brain areas with reduced activation during EV phase in depression group were bilateral prefrontal cortex (PFC)(MNI coordinate: left x=-45, y=21, z=-6; right x=0, y=69, z=-3), left para hippocampal gyrus(PHG)(MNI coordinate: x=-9, y=0, z=-22), bilateral occipital lobe(OL)(MNI coordinate: left x=-51, y=-81, z=-3; right x=48, y=-84, z=-9)( P<0.05). The brain areas with reduced activation during + PE phase were bilateral PFC, left hippocampus (HIP), bilateral temporal lobe (TL), left middle occipital gyrus( P<0.05). The brain areas with reduced activation were bilateral PFC, right putamen, bilateral TL( P<0.05) during -PE phase. Under ambiguous decision-making, compared with the control group, the brain areas with reduced activation during EV phase in depression group were bilateral PFC, right OL( P<0.05); the brain areas with reduced activation during + PE phase were bilateral PFC, right putamen and hippocampus, bilateral TL, bilateral OL( P<0.05); and the brain areas with reduced activation were bilateral PFC, bilateral TL( P<0.05) during -PE phase. Conclusion:The study shows that the activities of reward brain areas such as PFC, limbic system and OL system are reduced during EV and PE phase under uncertain decision-making in depressed patients.
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Resumen Se define a un embarazo ectópico cuando el blas tocisto en desarrollo se implanta fuera de la cavidad uterina. La localización más frecuente es en la trom pa, pero también puede ocurrir en el ovario, cérvix, cicatriz de cesárea, cuerno uterino (también mencio nado como intersticial en la literatura) o abdominal. Se estima que la incidencia de embarazo ectópico es aproximadamente el 2% de todos los embarazos, sien do la localización cornual solo el 2-4% de esos casos. El objetivo de este reporte es describir el caso de una paciente con sospecha de embarazo ectópico de loca lización incierta a quien se le realizó una laparoscopia exploradora por inicio de síntomas, evidenciando un embarazo ectópico cornual en el lecho de una salpin gectomía, producto de un embarazo ectópico tubario previo. Se realizó la cornuotomía con resección del mismo por laparoscopia y su evolución fue favorable con negativización de la subunidad beta. Este tipo de localización es rara y se asocia con grandes tasas de morbimortalidad materna. Representa un desafío diagnóstico y terapéutico para el ginecólogo que lo enfrenta.
Abstract Ectopic pregnancy occurs when a developing blastocyst implants at any site other than the uterine cavity. Ectopic pregnancy is most commonly found in the fallopian tube but may also occur in the cornua of the uterus (also found as interstitial in the literature), cervix, ovary, or abdominal cavity or in a cesarean scar. An estimated 2% of pregnan cies are ectopic, of which an interstitial pregnancy repre sents an extremely rare variant of ectopic pregnancy (EP), accounting for 2% to 4 % of all cases. The aim of this report is to describe the case of a patient with suspected ectopic pregnancy of uncertain location in which an exploratory laparoscopy was performed due to the onset of symptoms, discovering a cornual ectopic pregnancy in site of a past salpingectomy because of a tubal ectopic pregnancy. A cornuotomy by laparoscopy was performed to resect the cornual ectopic pregnancy. The patient had an unevent ful postoperative course, with negativization of human chorionic gonadotropin levels. This type of location is rare and is associated with high rates of maternal morbidity and mortality. It represents a diagnostic and therapeutic challenge for the gynecologist who faces it.
ABSTRACT
With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ethylenediaminetetraacetic acid tube and receiving a test report. This is identical to sending off a full blood count. However, it is far more complex than that. There are many potential pitfalls, as shown by the increasing number of complaints and lawsuits filed against doctors and allied health staff. Furthermore, clinical genetics involves more than just ordering tests; in fact, focusing on genetic tests alone is a potential pitfall. In this review, we discuss the common pitfalls in clinical genetics and how doctors can avoid these pitfalls to ensure patient safety and to safeguard their practice.
Subject(s)
Humans , Edetic Acid , Fenbendazole , Patient Safety , PhysiciansABSTRACT
Objective: To explore the role of transient elastography technology in the assessment of disease staging and treatment in patients with chronic hepatitis B virus (HBV) infection. Methods: Patients who were clinically diagnosed with chronic HBV infection at Beijing Tsinghua Changgung Hospital from January 2018 to December 2021 was collected. Liver stiffness measurement (LSM) examination was performed more than once by transient elastography. The count data were expressed as cases (%) and the χ (2) test was made. Fisher's exact test was used with theoretical frequency less than 5. The measurement data between two groups was compared by t-test. Multiple groups were compared with an analysis of variance. Results: 1 055 patients were included in this study, including 669 (63.4%) males and 386 (36.6%) females. 757 (71.8%) patients were untreated. Among the untreated patients, the LSM value in the immune clearance (10.2 ± 3.8) kPa (187 cases, 40.4%), and the reactivation stages (9.1 ± 3.4) kPa (114 cases, 24.6%) was significantly higher than that in the immune tolerance (8.7 ± 3.6) kPa (78 cases, 16.8%) and immune control stages (8.4 ± 3.5) KPa (84 cases, 18.1%), and the difference between the four groups was statistically significant (F = 5.31 and P = 0.03). With ALT (male: 30 U/L, female: 19 U/L) as defined the normal value, the LSM value in the immune tolerance and the immune control stages were (5.8 ± 0.9) kPa and (7.1 ± 2.5) kPa, respectively, which were significantly lower than those of patients in the immune tolerance and immune control stages, and the difference was statistically significant (P < 0.01). There were 294 (38.8%) patients with uncertain period, excluding patients with fatty liver. Patients with uncertain periods were divided into four gray zone (GZ) groups: immune tolerance stage: LSM (5.1 ± 1.3) kPa was significantly lower than GZ-A (6.5 ± 2.4) kPa, t = 2.06, P = 0.03, and the difference was statistically significant; immune control stage: LSM was (5.6 ± 1.5) kPa, which was also lower than GZ-C (6.8 ± 1.3) kPa, t = 3.08, P = 0.02, and the difference was statistically significant; immune clearance stage: LSM > 8.0 kPa. LSM values showed a year-by-year reduction in patients with expanded indications who started antiviral treatment and were followed up for three years. Conclusion: The LSM value is significantly lower after the decrease of the defined high-normal ALT value in patients with the immune tolerance and immune control stages of chronic HBV infection. The LSM values of GZ-A and GZ-C in the uncertain periods of chronic HBV infection are higher than those of patients in the immune tolerance and immune control stages.
Subject(s)
Humans , Male , Female , Hepatitis B, Chronic/drug therapy , Liver Cirrhosis/pathology , Elasticity Imaging Techniques , Antiviral Agents/therapeutic use , Liver/pathologyABSTRACT
para llevar a cabo esta investigación, se revisó la literatura sobre el caso de Terri Schiavo, paciente que se encontraba en estado vegetativo persistente y quien falleció luego de dos semanas, después de que se le suspendiera su alimentación e hidratación; se validó su diagnóstico y se indagó si fue una paciente terminal, así como también se verificó la evidencia disponible, en relación con la hidratación y nutrición artificial en este tipo de pacientes, para determinar la concordancia de estas medidas. Esta información fue analizada desde la perspectiva nutricional y bioética; en la búsqueda bibliográfica se consultaron las bases de datos Scopus, Scielo y PubMed, con los criterios de búsqueda nutrición e hidratación artificial en pacientes terminales y de pronóstico incierto. Estos hallazgos fueron analizados con el modelo de proporcionalidad terapéutica de Calipari. Por lo anterior, se determinó que la nutrición e hidratación artificial configuraban tratamientos de carácter obligatorio u optativo para Terri. Sin embargo, pese a que no existe información concluyente sobre la nutrición e hidratación artificial en pacientes terminales, ni de pronóstico incierto, se recomienda la evaluación caso a caso de parte del equipo médico, para determinar la proporcionalidad de estos procedimientos en conjunto con el paciente y su familia. Cabe resaltar que son necesarios más estudios para proporcionar mejor evidencia que permita contar con elementos objetivos para una mejor toma de decisiones.
to carry out this research, the literature was reviewed on the case of Terri Schiavo, a patient who was in a persistent vegetative state and who died after two weeks, after her nutrition and hydration were suspended; her diagnosis was validated, and it was investigated whether she was a terminal patient, as well as the available evidence, was verified, in relation to artificial hydration and nutrition in this type of patients to determine the concordance of these measures. This information was analyzed from the nutritional and bioethical perspective; in the bibliographic search, the Scopus, Scielo, and PubMed databases were consulted with the search criteria nutrition and artificial hydration in terminal patients and patients with uncertain prognosis; these findings were analyzed with Calipari's therapeutic proportionality model. Therefore, it was determined that artificial nutrition and hydration are mandatory or optional treatments for Terri. However, there is no conclusive information on artificial nutrition and hydration in terminally ill patients, nor is the prognosis uncertain, and a case-by-case evaluation by the medical team is recommended to determine the proportionality of artificial nutrition and hydration, together with the patient and family. It should be emphasized that more studies are needed to provide better evidence to provide objective elements for better decision-making.
Para realizar esta pesquisa, foi revisada a literatura sobre o caso de Terri Schiavo, paciente que se encontrava em estado vegetativo persistente e que faleceu após duas semanas depois de sua alimentação e hidratação terem sido suspensas. Foi avaliado seu diagnóstico e questionado se foi uma paciente terminal, bem como verificada a evidência disponível quanto à hidratação e à nutrição artificiais nesse tipo de pacientes para determinar a concordância dessas medidas. Essa informação foi analisada sob a perspectiva nutricional e bioética; na busca bibliográfica, foram consultadas as bases de dados Scopus, SciELO e PubMed, com os critérios de busca "nutrição e hidratação artificiais em pacientes terminais e de prognóstico incerto". Esses achados foram analisados com o modelo de proporcionalidade terapêutica de Calipari. Assim, foi determinado que a nutrição e a hidratação artificiais configuram tratamentos de caráter obrigatório ou opcional para Terri. Contudo, não existe informação conclusiva sobre a nutrição e a hidratação artificiais em pacientes terminais, nem em pacientes com prognóstico incerto. É recomendada a avaliação por parte da equipe médica caso a caso para determinar a adequação da nutrição e da hidratação artificiais em conjunto com o paciente e sua família. Cabe ressaltar que mais estudos são necessários para proporcionar melhor evidência que permita contar com elementos objetivos para uma melhor tomada de decisões.
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Objetivo: Revisar la correlación radiopatológica de las lesiones de potencial maligno incierto (B3) de nuestra institución, evaluar la conducta y establecer el porcentaje de subestimación en relación a las lesiones tratadas quirúrgicamente. Material y método: Estudio retrospectivo de la base de datos de procedimientos intervencionistas efectuados en el servicio de diagnóstico por imágenes del Instituto Alexander Fleming entre mayo de 2016 y diciembre de 2019 inclusive. Se incluyeron las pacientes con resultado histológico en la biopsia percutánea de uno o más de los siguientes diagnósticos: atipia epitelial plana (AEP), cicatriz radiada/lesión esclerosante compleja (CR), hiperplasia ductal atípica (HDA), neoplasia lobular clásica (NL), lesión papilar (LP) o tumor phyllodes (TP). Resultados: De 67 pacientes analizadas, el 43.3% se manifestaron en los estudios por imágenes con nódulos y en un 37.3% con microcalcificaciones agrupadas. La LP fue la lesión B3 más frecuente en un 44.8% seguido por la AEP en un 16.4%. El 98.5% de las pacientes presentó adecuada concordancia radiopatológica. Fueron sometidas a cirugía 48 pacientes, las 19 pacientes restantes continuaron con seguimiento clínico radiológico. La anatomía patológica de la pieza quirúrgica reflejó que en un 33.3% hubo subestimación en relación a la biopsia; en más de la mitad de los casos correspondieron a CDIS. Conclusiones: El porcentaje de subestimación con resultado final de CDIS o CDI de bajo grado se encontró dentro de los parámetros hallados en la literatura. Si bien logramos reducir la tasa de cirugías al 71% de pacientes con lesiones B3, una adecuada selección para efectuar exéresis con aguja por sistema de vacío podría reducir aún más el número de cirugías innecesarias y probablemente la tasa de subestimación.
Objective: To review the radiopathological correlation of lesions of uncertain malignant potential (B3) diagnosed in our institution, as well as to evaluate the therapeutic conduct and to establish the percentage of underestimation of the excised lesions. Material and method: This work consists of a retrospective study of the database which in- cludes the interventional procedures performed in the Imaging Department of the Alexander Fleming Institute between May 2016 and December 2019. Patients with a histological outcome in the percutaneous biopsy of one or more of the following diagnosis were included: flat epithelial atypia (FEA), radial scar (RS) /complex sclerosing lesion (CSL), atypical ductal hyperplasia (ADH), classic lobular neo- plasia (LN), papillary lesión (PL) or phyllodes tumor (PT). Results: Out of the 67 analyzed patients, 43.3% were perceived as nodules at imaging examinations and 37.3% as grouped microcalcifications. Papillary lesion was the most frequently diagnosed B3 lesion (44.8%), followed by flat epithelial atypia (16.4%). 98.5% of patients presented an accurate imaging-pathology concordance. 48 patients underwent surgery and the remaining 19 patients continued with clinical and radiological follow-up. The histopathology of the surgical specimen reflected that in 33.3% of the cases there was an underestimation in relation to the percutaneous biopsy; in over half of these cases they corresponded with DCIS. Conclusions: The percentage of underestimation with final diagnosis of DCIS or low grade IDC coincided with the parameters found in current literature. Even though we were able to reduce the surgical rate to 71% of patients with B3 lesions, a proper selection of cases which could be candidates for vacuum assisted excisional biopsy could further reduce the number of unnecessary surgeries and probably the un- derestimation rate as well.
Subject(s)
Female , Neoplasms , Biopsy , Diagnostic ImagingABSTRACT
RESUMO Esse artigo aborda a complexidade que é construir linha de trabalho entre equipamentos públicos de territorios diferentes, onde situações de desamparos predominam. Descreve o que foi possível alinhar entre os equipamentos e profissionais de diferentes formações para dar o suporte básico a uma dupla de mãe e filha para seguirem em frente. O Atendimento da dupla realizou-se em Unidade Básica de Saúde por solicitação da Pediatra da criança, que aos quatro anos apresenta recusa em se alimentar e em aceitar os cuidados básicos que a mãe propicia, confrontando-a, o que aumenta as desorganizações psíquicas e incertezas da mãe diante dos próprios fantasmas. A história pregressa desta, são de perdas significativas precocemente, em 2004 é diagnosticada como esquizofrênica, engravida em 2013, o pai da criança a rejeita. Nada exige deste, cria sua filha fazendo todos os tipos de sacrifícios. Constata-se deterioração dos vínculos familiares, e, em tempos de vínculos incertos, a vulnerabilidade parece rondar como um fantasma aqueles cujo desamparo os condenou. Utilizamos o aporte teórico será da Psicanálise Clássica e dos que se dedicam ao estudo da Psicanálise das Configurações Vinculares.
ABSTRACT This article addresses the complexity of building a line of work between public facilities in different territories, where situations of helplessness predominate. It describes what it was possible to align between equipment and professionals from different backgrounds to provide the basic support for a mother and daughter to move on. Their care took place in the Basic Health Unit at the request of the child's pediatrician. At four years of age, the child refused to eat and accept the basic care that the mother provided, confronting her. That increased the mother's psychic disorganization and uncertainties while facing her own demons. The mother's history shows significant losses at early age. In 2004, she was diagnosed as schizophrenic, then she got pregnant in 2013 and the child's father rejected it. No one demanded anything from him, and the mother raised her daughter making all kinds of sacrifices. Family bonds were deteriorating and, in times of uncertain bonds, vulnerability seemed to prowl around those whose helplessness had condemned them. The theoretical contribution used is from Classical Psychoanalysis and those dedicated to the study of Psychoanalysis of Bonding Configurations.
RESUMEN Este articulo aborda la complejidad que es construir una línea de trabajo entre los diversos equipos públicos de territorios diferentes, donde situaciones de desamparados predominan. Describe aquello que fue posible alinear entre los equipos de profesionales de diferentes formaciones para dar un soporte básico a una dupla de madre e hija para seguir adelante. La atención a la dupla se realizado en una Unidad Básica de Salud a pedido del Pediatra del niño, que a los cuatro años presenta un rechazo a se alimentar y aceptar los cuidados básicos que la madre le provee, confrontándola, lo que aumenta la desorganización psíquica e incertezas de la madre frente a sus propios fantasmas. La historia anterior de la misma estaba teñida de perdidas significativas precoces, en 2004 es diagnosticada de esquizofrénica, en 2013 ella queda encinta y el padre rechaza el embarazo. Ella nada le exige y cría su hija haciendo una serie de sacrificios. Se constata un deterioro dos vínculos familiares, e, em tempos de incertezas nos vínculos, la vulnerabilidad parece rondar como un fantasma aquellos cuya desamparo los condeno. Utilizamos la contribución teórica del Psicoanálisis Clásico y los que se dedican al Psicoanálisis de las configuraciones vinculares.
Subject(s)
Schizophrenia , Community Networks , Maternal-Child Health Services , Psychological Distress , Mother-Child Relations , Object AttachmentABSTRACT
Introduction: Chronic abdominal pain which is difficult to diagnose initially not only encumbers the patient but it also affectstheir daily routine, leading to physical and psychological disability, here comes the role of diagnostic laparoscopy which provesto be beneficial aiding in diagnosing most of these cases. Hence, the aim was to evaluate the diagnostic value of laparoscopyin cases with chronic abdominal pain.Materials and Methods: This study was done in the Department of General Surgery at Indira Gandhi Institute of Medicalsciences, Patna, Bihar, from July 2019 to March 2020 in 40 patients. Prior Institutional Ethical Committee approval was alsoobtained for this study.Results: Out of 40 patients included in this study, maximum number of patients were females. Male-to-female ratio was 1:1.4.The maximum number of patients were in the age group of 21–40 years (60%). Maximum patients 45% (n = 18) had complaintof pain in the right lower quadrant of abdomen. The most common finding during diagnostic laparoscopy was found to bepathology in the appendix accounting for 27.5% of cases (11/40).Conclusion: Diagnostic laparoscopy is a safe and effective tool to establish the etiology of chronic abdominal pain and allowsfor appropriate interventions. It can serve as a time saving and cost-effective implement for these patients.
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Rarely diagnosed in authors department, uterine smooth muscle tumor of uncertain malignant potential (STUMP) is one of the histologic types of uterine sarcoma. Among women undergoing hysterectomy or myomectomy for a presumed diagnosis of leiomyoma, 0.01% receive a diagnosis of STUMP. Authors report a case occurring to a patient aged of 55 which was diagnosed, managed successfully and followed-up in authors department.
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Disorders of sex development (DSD) are a group of rare complex clinical syndromes with multiple etiologies. Distinguishing the various causes of DSD is quite difficult in clinical practice, even for senior general physicians because of the similar and atypical clinical manifestations of these conditions. In addition, DSD are difficult to diagnose because most primary doctors receive insufficient training for DSD. Delayed diagnoses and misdiagnoses are common for patients with DSD and lead to poor treatment and prognoses. On the basis of the principles and algorithms of dynamic uncertain causality graph (DUCG), a diagnosis model for DSD was jointly constructed by experts on DSD and engineers of artificial intelligence. "Chaining" inference algorithm and weighted logic operation mechanism were applied to guarantee the accuracy and efficiency of diagnostic reasoning under incomplete situations and uncertain information. Verification was performed using 153 selected clinical cases involving nine common DSD-related diseases and three causes other than DSD as the differential diagnosis. The model had an accuracy of 94.1%, which was significantly higher than that of interns and third-year residents. In conclusion, the DUCG model has broad application prospects as a computer-aided diagnostic tool for DSD-related diseases.
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Dyspnea is one of the most common manifestations of patients with pulmonary disease, myocardial dysfunction, and neuromuscular disorder, among other conditions. Identifying the causes of dyspnea in clinical practice, especially for the general practitioner, remains a challenge. This pilot study aimed to develop a computer-aided tool for improving the efficiency of differential diagnosis. The disease set with dyspnea as the chief complaint was established on the basis of clinical experience and epidemiological data. Differential diagnosis approaches were established and optimized by clinical experts. The artificial intelligence (AI) diagnosis model was constructed according to the dynamic uncertain causality graph knowledge-based editor. Twenty-eight diseases and syndromes were included in the disease set. The model contained 132 variables of symptoms, signs, and serological and imaging parameters. Medical records from the electronic hospital records of Suining Central Hospital were randomly selected. A total of 202 discharged patients with dyspnea as the chief complaint were included for verification, in which the diagnoses of 195 cases were coincident with the record certified as correct. The overall diagnostic accuracy rate of the model was 96.5%. In conclusion, the diagnostic accuracy of the AI model is promising and may compensate for the limitation of medical experience.
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OBJECTIVE@#To investigate the clinical and pathologic characteristics, diagnosis, treatment, prognosis and survival of prostatic stromal tumor of uncertain malignant potential.@*METHODS@#Overall 14 patients with prostatic stromal tumor of uncertain malignant potential were treated from October 2008 to April 2020, the patient age ranged from 27 to 78 years (mean 54 years). The disease duration was 1 to 180 months (mean duration of 46 months). The clinical manifestations mainly included urinary obstructive symptoms and urethral irritating symptoms. The tumors were located in the peripheral zone or the transition zone. Digital rectum examination indicated prostatic tumor. Serum prostatic specific antigen level was always normal or elevated. Transrectal ultrasonography and magnetic resonance imaging indicated prostatic tumor. Magnetic resonance imaging in showed large, round, well-defined masses, which were diffusely heterogeneous signal on T2 weighted imaging. Following the administration of intravenous contrast medium, the lesion had diffuse and heterogeneous enhancement.@*RESULTS@#In the study, 3 cases underwent prostate biopsy, 2 cases underwent transurethral resection of the prostate, 9 cases underwent radical excision or transurethral resection of the prostate with definite diagnosis of pathologic features. Under the light microscope, the interstitial cells of stromal tumor of uncertain malignant potential were overgrowth and fusiform cells showed some degree of pleomorphism, nuclei with few mitotic figures, and necrosis was not often seen. Immunohistochemical staining showed that prostate specific antigen was negative, while vimentin was positive in the tumor tissue, CD34, progesterone receptor and smooth muscle actin were positive in the majority, and Ki67 positive index was 1%-20% (mean 6%). Twelve cases were followed-up, and the time of survival varied from 10 to 96 months (mean 65 months), two cases were lost to the follow-up, one case died of disease at the end of 10 months, nine cases were free of disease recurrence after surgery, two cases underwent more transurethral resection of the prostate due to local recurrence.@*CONCLUSION@#STUMP is a very rare tumor of the specialized prostatic stroma with an unpredictable clinical behavior. The clinical manifestations, transrectal ultrasonography and magnetic resonance imaging are valuable for the diagnosis of prostatic stromal tumor of uncertain malignant potential. Its definite diagnosis depends on pathological examination. Up to now, early surgery and combined therapy are effective treatments for prostatic stromal tumor of uncertain malignant potential.
Subject(s)
Adult , Aged , Humans , Male , Middle Aged , Magnetic Resonance Imaging , Neoplasm Recurrence, Local , Prostatic Neoplasms/surgery , Transurethral Resection of ProstateABSTRACT
The aim of the present study was to evaluate the diagnostic yield of prenatal cytogeneticmicroarray (CMA) in structurally normal and abnormal foetuses and record the acceptance rate of CMA for prenatal diagnosis over a course of five year. In 128 structurally normal and abnormal foetuses, CMA was performed along with foetal karyotype, after exclusion of aneuploidy by quantitative fluorescence polymerase chain reaction. The microarray was able to detect the pathogenic variants in 5.5% cases; the diagnostic yield in structurally abnormal foetuses was 8.8% and 4.7% in foetuses with a high aneuploidy risk. Balanced and unbalanced translocations, and low level mosaicism were detected. Reanalysis of variants of uncertain significance identified pathogenic variant. The study shows higher diagnostic yield in structurally abnormal cases, the importance of foetal karyotype and reanalysis in microarray. The acceptance rate of prenatal CMA increased five-fold over a period of five year
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SUMMARY: Uterine smooth muscle tumors (USMT) are common, behavior-distinct gynecological tumors; including: leiomyoma (ULM), leiomyosarcoma (ULMS), and smooth muscle tumors of undetermined malignant potential (STUMP). Pre-operative distinction is difficult, thus diagnosis relies on histopathology. Immunohistochemistry (IHC) had been used to help in distinction. We studied two markers (stathmin-1 and CD147) to demonstrate whether they have diagnostic/ prognostic assist. Sixty seven USMT are studied. Age, follow up, and recurrence/metastasis data were collected. Representative slides were stained and Histologic score (HS) calculated as stain intensity (SI) X percentage of positive tumor cells (PP). Results were grouped as low expression (LE) and high expression (HE); then correlated to tumor types, and risk of recurrence/ metastasis. Statistical analysis (P < 0.05); Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were calculated. Stathmin-1 HS (p= 0.000) and HE (p=0.002) were different among groups. Same as for CD147 HS and HE (both p=0.000), with a gradient increase from LM to STUMP to ULMS. Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were as following: For stathmin-1 HS: 92 %; 20 %; 42 %; and 80 % (CI= 44-96 %). For Stathmin-1 HE: 80 %; 66 %; 60 %; and 84 % (CI=66-94 %). For CD147 HS: 85 %; 22 %; 41 %; and 69 %. For CD147 HE: 58 %; 49 %; 42 %; and 65 % (CI= 45-80 %), respectively. Recurrence / metastasis were documented in 6 cases (4 ULMS; 2 STUMP) with follow up ranging from 6 months to 102 months. 5 tumors had stathmin-1 HE (p=0.099); 2 had CD147 HE (p=0.393) in the primary tumors. STMN1 and CD147 are helpful diagnostic tests for USMT sub-typing, especially for ULMS. Gradient increase of expression from LM, to STUMP, to ULMS may indicate a role in malignant transformation in USMT, and in increased risk of recurrences/metastasis.
RESUMEN: Los tumores del músculo liso uterino (USMT, por sus siglas en inglés) son tumores ginecológicos comunes y de comportamiento distinto; incluyendo: leiomioma (ULM), leiomiosarcoma (ULMS) y tumores de músculo liso de potencial maligno indeterminado (STUMP). La distinción preoperatoria es difícil, por lo que el diagnóstico se basa en la histopatología. La inmunohistoquímica (IHQ) se había utilizado para ayudar en la distinción. Estudiamos dos marcadores (stathmin-1 y CD147) para demostrar si había efecto diagnóstico / pronóstico. Se estudiaron 67 USMT. Se recopilaron los datos de edad, seguimiento y recurrencia / metástasis. Las muestras representativas se tiñeron y la puntuación histológica (HS) se calculó como la intensidad de la tinción (IS) x porcentaje de células tumorales positivas (PP). Los resultados se agruparon como expresión baja (EB) y expresión alta (EA); luego se correlacionaeon con los tipos de tumores y el riesgo de recurrencia / metástasis. Análisis estadístico (P <0,05); se calcularon la sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS. Stathmin-1 HS (p = 0,000) y HE (p = 0,002) fueron diferentes entre los grupos. Igual que para CD147 HS y HE (ambos p = 0,000), con un aumento de gradiente de LM a STUMP a ULMS. La sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS fueron los siguientes: Para stathmin-1 HS: 92 %; 20 %; 42 %; y 80 % (IC = 44-96 %). Para Stathmin-1 HE: 80 %; 66 %; 60 %; y 84 % (IC = 66-94 %). Para CD147 HS: 85 %; 22 %; 41 %; y el 69 %. Para CD147 HE: 58 %; 49 %; 42 %; y 65 % (IC = 45-80 %), respectivamente. La recurrencia / metástasis se documentaron en 6 casos (4 ULMS; 2 STUMP) con un seguimiento que osciló entre 6 meses y 102 meses. Cinco tumores tenían stathmin-1 HE (p = 0,099); dos tenían CD147 HE (p = 0,393) en los tumores primarios. STMN1 y CD147 son pruebas de diagnóstico útiles para la subclasificación de USMT, especialmente para ULMS. El aumento en el gradiente de la expresión de LM, a STUMP, a ULMS puede indicar un papel en la transformación maligna en USMT y en un mayor riesgo de recurrencias / metástasis.
Subject(s)
Humans , Female , Adult , Middle Aged , Uterine Neoplasms/diagnosis , Smooth Muscle Tumor/diagnosis , Stathmin/metabolism , Basigin/metabolism , Uterine Neoplasms/metabolism , Uterine Neoplasms/pathology , Immunohistochemistry , Confidence Intervals , Predictive Value of Tests , Sensitivity and Specificity , Smooth Muscle Tumor/metabolism , Smooth Muscle Tumor/pathology , Leiomyoma/diagnosis , Leiomyoma/pathology , Leiomyosarcoma/diagnosis , Leiomyosarcoma/pathologyABSTRACT
Taking the occurrence and development of general consent as the research object, this paper compared the differences between the ethical characteristics of broad consent and informed consent of specific research through the analysis of the content revision process of broad consent in the U.S. Broad Rules, and tried to explore the feasibility of implementing broad consent in Chinese medical institutions.
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We describe herein histologic, immunohistochemical, and molecular findings and clinical manifestations of a rare case of an extremely well differentiated papillary thyroid carcinoma (EWD-PTC). Similarly, it is also difficult to diagnose follicular variant papillary thyroid carcinoma (FVPTC), whose diagnosis is still met with controversy. A recently reported entity of well-differentiated tumor of uncertain malignant potential (WDT-UMP) is added to the diagnostic spectrum harboring EWD-PTC and FVPTC. We report this case, because EWD-PTC is different from FVPTC in its papillary architecture, and also from WDT-UMP in its recurrence and metastatic pattern. These morphologically deceptive entities harbored diagnostic difficulties in the past because the diagnosis depended solely on histology. However, they are now diagnosed with more certainty by virtue of immunohistochemical and molecular studies. We experienced a case of EWD-PTC, which had been diagnosed as adenomatous hyperplasia 20 years ago and manifested recurrence with lymph node (LN) metastasis 7 years later. After another 7 years of follow-up, a new thyroid lesion had developed, diagnosed as FVPTC, with LN metastasis of EWD-PTC. One year later, the patient developed metastatic FVPTC in the skull. Immunohistochemically, the EWD-PTC was focally positive for CK19, negative for galectin-3, and focally negative for CD56. Molecular studies revealed BRAF-positivity and K-RAS negativity. The FVPTC in the left thyroid showed both BRAF and K-RAS negativity. In conclusion, EWD-PTC and FVPTC share similar histologic features, but they are different tumors with different molecular biologic and clinical manifestations. A large cohort of EWD-PTC should be included in further study.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Adenocarcinoma, Follicular/pathology , Carcinoma, Papillary, Follicular/pathology , Galectin 3/analysis , Hyperplasia/pathology , Lymphatic Metastasis , Neoplasm Recurrence, Local/pathology , Skull Neoplasms/secondary , Thyroid Neoplasms/pathologyABSTRACT
Objective To evaluate the effectiveness of a rat model for comorbidity of Tourette syndrome and anxiety with empty water bottle stimulation plus iminoodipropionitrile(IDPN) injection.Methods The 48 male SD rats were randomly divided into four groups:the blank control group,the TS group,the anxiety group and the comorbidity group.The blank control group was injected with saline for 7 days.The TS groop was injected with 3,3-iminodipropionitrile (IDPN) with 250 mg/kg once a day for 7 consecutive days.The anxiety group was given empty water bottle stimulation for 21 consecutive days.The comorbidity group was given empty water bottle stimulation plus IDPN injection.At the end of the 3rd week,the behavioral changes of the stereotyped movement,elevated plus-maze and open field of the rats in each group were measured,and the contents of monoamine neurotransmitters in striatum and hippocampus were determined by HPLC.Results The results of stereotyped movement showed that there was no significant difference between the groups except for the blank control group.The elevated plus-maze test showed that the 0E/TE values of the comorbidity group (21.33±11.35) ％ and the anxiety group (17.68±16.89) ％ were significantly decreased,lower than that of the blank control group (73.24± 19.33) ％ and TS group(61.43±21.84) ％.The results of open field test showed that the total scores of open field in the comorbidity group(15.22±9.87)and anxiety group (11.17±10.76) were lower than that of the blank control group (41.86±33.30) and TS group(48.83± 17.65) (P＜0.01).However,there was no significant difference between the comorbidity group and the anxiety group.The test of monoamine neurotransmitters in striatum showed that the content of HIAA in the comorbidity group(0.03±0.00) ng/mg was the highest,and that of the TS group and anxiety group (0.02±0.00) ng/mg was higher than that of the blank control group (0.01±0.00) ng/mg (P＜0.01).The DA test showed that the content of DA in the comorbidity group (0.03±0.00) ng/mg was the highest,and that of the comorbidity group,TS group(0.02±0.00) ng/mg and anxiety group was higher than that of the blank control group(0.01±0.00) ng/mg (P＜0.01).The expression of 5-HT was most significant among the groups (P＜0.01),and there was significant difference between the anxiety group ((0.011 ± 0.001) ng/mg)and the comorbidity group ((0.014±0.002) ng/mg) (P＜0.01).The expression of HVA in the three model groups ((0.05±0.00) ng/mg) was higher than that in the blank group ((0.02±0.00) ng/mg) (P＜ 0.01).The expression of DOPAC in the TS group ((0.23±0.02) ng/mg) was higher than that in the blank control group((0.16±0.01) ng/mg) and comorbidity group ((0.16±0.02) ng/mg) (P＜0.01).The test of monoamine neurotransmitters in hippocampus showed that the content of 5-HT in the comorbidity group ((0.14±0.02) ng/mg) was the highest,followed by the anxiety group ((0.1 ± 0.03) ng/mg) and the TS group ((0.07±0.04) ng/mg),which were all higher than the blank control group((0.04±0.03) ng/mg) (P＜0.05,P＜0.01),and there were significant differences between the comorbidity group and the TS group or anxiety group (P＜0.01).The expressions of HIAA and HVA were higher in the comorbidity group((0.44±0.04)ng/mg,(0.01±0.00) ng/mg),TS group ((0.46±0.15) ng/mg,(0.01 ±0.01) ng/mg) and anxiety group ((0.46±0.08)ng/mg,(0.01±0.00) ng/mg) than that in the blank control group((0.21±0.10)ng/mg,(0±0) ng/mg) (P＜0.05,P＜0.01).Conclusion This study confirms the reliability of the model and it is an ideal animal model for the study of TS with comorbidity of anxiety,which can be used for follow-up research.
ABSTRACT
Objective To evaluate the effectiveness of a rat model for comorbidity of Tourette syndrome and anxiety with empty water bottle stimulation plus iminoodipropionitrile(IDPN) injection.Methods The 48 male SD rats were randomly divided into four groups:the blank control group,the TS group,the anxiety group and the comorbidity group.The blank control group was injected with saline for 7 days.The TS groop was injected with 3,3-iminodipropionitrile (IDPN) with 250 mg/kg once a day for 7 consecutive days.The anxiety group was given empty water bottle stimulation for 21 consecutive days.The comorbidity group was given empty water bottle stimulation plus IDPN injection.At the end of the 3rd week,the behavioral changes of the stereotyped movement,elevated plus-maze and open field of the rats in each group were measured,and the contents of monoamine neurotransmitters in striatum and hippocampus were determined by HPLC.Results The results of stereotyped movement showed that there was no significant difference between the groups except for the blank control group.The elevated plus-maze test showed that the 0E/TE values of the comorbidity group (21.33±11.35) ％ and the anxiety group (17.68±16.89) ％ were significantly decreased,lower than that of the blank control group (73.24± 19.33) ％ and TS group(61.43±21.84) ％.The results of open field test showed that the total scores of open field in the comorbidity group(15.22±9.87)and anxiety group (11.17±10.76) were lower than that of the blank control group (41.86±33.30) and TS group(48.83± 17.65) (P＜0.01).However,there was no significant difference between the comorbidity group and the anxiety group.The test of monoamine neurotransmitters in striatum showed that the content of HIAA in the comorbidity group(0.03±0.00) ng/mg was the highest,and that of the TS group and anxiety group (0.02±0.00) ng/mg was higher than that of the blank control group (0.01±0.00) ng/mg (P＜0.01).The DA test showed that the content of DA in the comorbidity group (0.03±0.00) ng/mg was the highest,and that of the comorbidity group,TS group(0.02±0.00) ng/mg and anxiety group was higher than that of the blank control group(0.01±0.00) ng/mg (P＜0.01).The expression of 5-HT was most significant among the groups (P＜0.01),and there was significant difference between the anxiety group ((0.011 ± 0.001) ng/mg)and the comorbidity group ((0.014±0.002) ng/mg) (P＜0.01).The expression of HVA in the three model groups ((0.05±0.00) ng/mg) was higher than that in the blank group ((0.02±0.00) ng/mg) (P＜ 0.01).The expression of DOPAC in the TS group ((0.23±0.02) ng/mg) was higher than that in the blank control group((0.16±0.01) ng/mg) and comorbidity group ((0.16±0.02) ng/mg) (P＜0.01).The test of monoamine neurotransmitters in hippocampus showed that the content of 5-HT in the comorbidity group ((0.14±0.02) ng/mg) was the highest,followed by the anxiety group ((0.1 ± 0.03) ng/mg) and the TS group ((0.07±0.04) ng/mg),which were all higher than the blank control group((0.04±0.03) ng/mg) (P＜0.05,P＜0.01),and there were significant differences between the comorbidity group and the TS group or anxiety group (P＜0.01).The expressions of HIAA and HVA were higher in the comorbidity group((0.44±0.04)ng/mg,(0.01±0.00) ng/mg),TS group ((0.46±0.15) ng/mg,(0.01 ±0.01) ng/mg) and anxiety group ((0.46±0.08)ng/mg,(0.01±0.00) ng/mg) than that in the blank control group((0.21±0.10)ng/mg,(0±0) ng/mg) (P＜0.05,P＜0.01).Conclusion This study confirms the reliability of the model and it is an ideal animal model for the study of TS with comorbidity of anxiety,which can be used for follow-up research.