Consideraciones bioéticas en el manejo de la esclerosis lateral amiotrófica: Una aproximación al quehacer fonoaudiológico

Introducción: La esclerosis lateral amiotrófica (ELA) es la forma más común de enfermedad degenerativa de motoneurona en la edad adulta y es considerada una enfermedad terminal. Por lo mismo, el accionar del fonoaudiólogo debe considerar el respeto a los principios bioéticos básicos para garantizar una asistencia adecuada. Objetivo: Conocer aquellas consideraciones bioéticas relacionadas al manejo y estudio de personas con ELA para luego brindar una aproximación hacia el quehacer fonoaudiológico. Método: Se efectuó una búsqueda bibliográfica en las bases de datos PubMed, Scopus y SciELO. Se filtraron artículos publicados desde 2000 hasta junio de 2023 y fueron seleccionados aquellos que abordaban algún componente bioético en población con ELA. Resultados: Aspectos relacionados al uso del consentimiento informado y a la toma de decisiones compartidas destacaron como elementos esenciales para apoyar la autonomía de las personas. Conclusión: Una correcta comunicación y una toma de decisiones compartida son claves para respetar la autonomía de las personas. A su vez, la estandarización de procedimientos mediante la investigación clínica permitirá aportar al cumplimiento de los principios bioéticos de beneficencia y no maleficencia, indispensables para la práctica profesional.

Introduction: Amyotrophic lateral sclerosis (ALS) is the most common form of degenerative motor neuron disease in adulthood and is considered a terminal disease. For this reason, the actions of the speech therapist must consider respect for basic bioethical principles to guarantee adequate assistance. Objective: To know those bioethical considerations related to the management and study of people with ALS to then provide an approach to speech therapy. Methodology: A bibliographic search was carried out in the PubMed, Scopus, and SciELO databases. Articles published from 2000 to June 2023 were filtered and those that addressed a bioethical component in the population with ALS were selected. Results: Aspects related to the use of informed consent and shared decision-making stood out as essential elements to support people's autonomy. Conclusion: Proper communication and shared decision-making are key to respecting people's autonomy. In turn, the standardization of procedures through clinical research will contribute to compliance with the bioethical principles of beneficence and non-maleficence, essential for professional practice.

Outcomes of a Community of Practice on Quebec Speech Language Pathologists' Voice Assessment Practices and Professional Identity

In a context where different protocols for recommended practices in clinical voice assessment exist, while there are gaps in the literature regarding the evidence base supporting assessment procedures and measures, clinicians from regions where a strong community holding expertise in clinical and scientific voice practices lack can struggle to confidently develop their voice assessment practices. In an effort to improve voice assessment practices and strengthen professional identity among speech-language pathologists in Quebec, Canada, a community of practice (CoP) was established, with the aim of promoting knowledge sharing, implementing change in clinical practice, and improving professional identity. Thirty-nine participants took part in the CoP activities conducted over a four-month period, including virtual meetings and in-person workshops. Participants had a high rate of attendance (> 74% participation rate in virtual meetings), and were highly satisfied with their participation and intended to remain involved after the project's end. Statistically significant changes in voice assessment practices were observed post-CoP, regarding probability of performing assessments (p < .001), and perceived importance of assessment for evaluative purposes (p <.001), as well as improvements in assessment specific confidence, specifically for procedure of auditory-perceptual assessment (p < .001) and purpose of aerodynamic assessment (p = .05). Moreover, there was an increase in professional identity post-CoP (p < .001) and participants felt they made significant learnings. The present study highlighted the need to involve SLPs in future research to identify assessments that are relevant to the specific evaluative objectives of SLPs working with voice, and suggests CoPs are an efficient tool for that purpose.

En un contexto en el que existen diferentes protocolos para las prácticas recomendadas en la evaluación vocal clínica, y en el que se presentan vacíos en la literatura respecto a la base de evidencia que respalda los procedimientos y medidas de evaluación, los profesionales de regiones donde no hay una comunidad sólida con experiencia en prácticas vocales clínicas y científicas pueden enfrentar dificultades para desarrollar con confianza sus prácticas de evaluación vocal. Con el propósito de mejorar las prácticas de evaluación vocal y fortalecer la identidad profesional entre los logopedas de Quebec, Canadá, se estableció una comunidad de práctica (CdP). Esta tenía como objetivo fomentar el intercambio de conocimientos, implementar cambios en la práctica clínica y mejorar la identidad profesional. Un total de treinta y nueve participantes se involucraron en las actividades de la CdP, llevadas a cabo durante un período de cuatro meses, que incluyeron reuniones virtuales y talleres presenciales. Los participantes tuvieron una alta tasa de asistencia (> 74% de participación en las reuniones virtuales) y expresaron un alto grado de satisfacción con su participación, manifestando su intención de continuar involucrados después de la finalización del proyecto. Se observaron cambios estadísticamente significativos en las prácticas de evaluación vocal posterior a la CdP, en lo que respecta a la probabilidad de llevar a cabo evaluaciones (p < .001) y la percepción de la importancia de la evaluación con fines evaluativos (p < .001), así como mejoras en la confianza específica en la evaluación, particularmente en el procedimiento de evaluación auditivo-perceptual (p < .001) y el propósito de la evaluación aerodinámica (p = .05). Además, se registró un aumento en la identidad profesional posterior a la CdP (p < .001) y los participantes sintieron que obtuvieron aprendizajes significativos. El presente estudio destacó la necesidad de involucrar a los logopedas en investigaciones futuras, para identificar evaluaciones pertinentes a los objetivos evaluativos específicos de los logopedas que trabajan con la voz, y sugiere que las CdP son una herramienta eficiente con ese propósito.

ChatGPT es un estudiante por encima de la media en la Facultad de Medicina de la Universidad de Zaragoza y un colaborador excelente en la elaboración de material docente / ChatGPT is an above-average student at the Faculty of Medicine of the University of Zaragoza and an excellent collaborator in the development of teaching materials

Introducción y objetivo: La inteligencia artificial se halla plenamente presente en nuestras vidas. En educación las posibilidades de su uso son infinitas, tanto para alumnos como para docentes. Material y métodos: Se ha explorado la capacidad de ChatGPT a la hora de resolver preguntas tipo test a partir del examen de la asignatura Procedimientos Diagnósticos y Terapéuticos Anatomopatológicos de la primera convocatoria del curso 2022-2023. Además de comparar su resultado con el del resto de alumnos presentados, se han evaluado las posibles causas de las respuestas incorrectas. Finalmente, se ha evaluado su capacidad para realizar preguntas de test nuevas a partir de instrucciones específicas. Resultados: ChatGPT ha acertado 47 de las 68 preguntas planteadas, obteniendo una nota superior a la de la media y mediana del curso. La mayor parte de preguntas falladas presentan enunciados negativos, utilizando las palabras «no», «falsa» o «incorrecta» en su enunciado. Tras interactuar con él, el programa es capaz de darse cuenta de su error y cambiar su respuesta inicial por la correcta. Finalmente, ChatGPT sabe elaborar nuevas preguntas a partir de un supuesto teórico o bien de una simulación clínica determinada. Conclusiones: Como docentes estamos obligados a explorar las utilidades de la inteligencia artificial, e intentar usarla en nuestro beneficio. La realización de tareas que suponen un consumo de tipo importante, como puede ser la elaboración de preguntas tipo test para evaluación de contenidos, es un buen ejemplo. (AU)

Introduction and objective: Artificial intelligence is fully present in our lives. In education, the possibilities of its use are endless, both for students and teachers. Material and methods: The capacity of ChatGPT has been explored when solving multiple choice questions based on the exam of the subject «Anatomopathological Diagnostic and Therapeutic Procedures» of the first call of the 2022-23 academic year. In addition, to comparing their results with those of the rest of the students presented the probable causes of incorrect answers have been evaluated. Finally, its ability to formulate new test questions based on specific instructions has been evaluated. Results: ChatGPT correctly answered 47 out of 68 questions, achieving a grade higher than the course average and median. Most failed questions present negative statements, using the words «no», «false» or «incorrect» in their statement. After interacting with it, the program can realize its mistake and change its initial response to the correct answer. Finally, ChatGPT can develop new questions based on a theoretical assumption or a specific clinical simulation. Conclusions: As teachers we are obliged to explore the uses of artificial intelligence and try to use it to our benefit. Carrying out tasks that involve significant consumption, such as preparing multiple-choice questions for content evaluation, is a good example. (AU)

Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review.

BACKGROUND: Ghost cell odontogenic carcinoma (GCOC) is a rare malignancy characterized by the presence of ghost cells, preferably in the maxilla. Only slightly more than 50 case reports of GCOC have been documented to date. Due to the rarity of this tumor and its nonspecific clinical criteria, there is a heightened risk of misdiagnosis in clinical examination, imaging findings, and pathology interpretation. CASE PRESENTATION: A 50-year-old male patient presented to the hospital due to experiencing pain in his lower front teeth while eating for the past 2 months. Upon examination, a red, hard, painless mass was found in his left lower jaw, measuring approximately 4.0 cm × 3.5 cm. Based on the malignant histological morphology of the tumor and the abundant red-stained keratinized material, the preoperative frozen section pathology misdiagnosed it as squamous cell carcinoma (SCC). The surgical resection specimen pathology via paraffin section revealed that the tumor was characterized by round-like epithelial islands within the fibrous interstitium, accompanied by a large number of ghost cells and some dysplastic dentin with infiltrative growth. The malignant components displayed marked heterogeneity and mitotic activity. Additionally, a calcified cystic tumor component of odontogenic origin was observed. Hemorrhage, necrosis, and calcifications were present, with a foreign body reaction around ghost cells. Immunoreactivity for ß-catenin showed strong nuclear positivity in tumor cells, while immunostaining was completely negative for p53. The Ki67 proliferation index was approximately 30-40%. The tumor cells exhibited diffuse CK5/6, p63, and p40 immunoreactivity, with varying immunopositivity for EMA. Furthermore, no BRAFV600E mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC. CONCLUSION: We have reported and summarized for the first time the specific manifestations of GCOC in frozen section pathology and possible pitfalls in misdiagnosis. We also reviewed and summarized the etiology, pathological features, molecular characteristics, differential diagnosis, imaging features, and current main treatment options for GCOC. Due to its rarity, the diagnosis and treatment of this disease still face certain challenges. A correct understanding of the pathological morphology of GCOC, distinguishing the ghost cells and the secondary stromal reaction around them, is crucial for reducing misdiagnosis rates.

Sex differences in Alzheimer's disease blood biomarkers in a Caribbean population of African ancestry: The Tobago Health Study.

INTRODUCTION: Alzheimer's disease (AD) is increasing in the Caribbean, especially for persons of African ancestry (PAA) and women. However, studies have mostly utilized surveys without AD biomarkers. METHODS: In the Tobago Health Study (n = 309; 109 women, mean age 70.3 ± 6.6), we assessed sex differences and risk factors for serum levels of phosphorylated tau-181 (p-tau181), amyloid-beta (Aß)42/40 ratio, glial fibrillary acidic protein (GFAP), and neurofilament light chain (NfL). Blood samples were from 2010 to 2013 for men and from 2019 to 2023 for women. RESULTS: Women were more obese, hypertensive, and sedentary but reported less smoking and alcohol use than men (age-adjusted p < 0.04). Compared to men, women had worse levels of AD biomarkers, with higher p-tau181 and lower Aß42/40, independent of covariates (p < 0.001). In sex-stratified analyses, higher p-tau181 was associated with older age in women and with hypertension in men. GFAP and NfL did not differ by sex. DISCUSSION: Women had worse AD biomarkers than men, unexplained by age, cardiometabolic diseases, or lifestyle. Studying risk factors for AD in PAA is warranted, especially for women earlier in life.

The relationship of testicular stiffness with Johnsen score and sperm retrieval outcome in men with non-obstructive azoospermia.

Background: The pathological Johnsen score (JS) is a quantitative histological scoring system used to assess spermatogenesis in men with nonobstructive azoospermia (NOA), while elastic modulus derived from shear wave elastography (SWE) is a diagnostic tool for evaluating spermatogenic dysfunction. In this prospective observational study, we aimed to investigate whether testicular stiffness measured by SWE could serve as a substitute for JS in predicting sperm retrieval outcomes in men with NOA. Methods: This prospective cohort study analyzed 140 testes from 115 consecutive outpatient participants with NOA who had sought treatment at the reproductive medical center of a tertiary care hospital between January 2018 and October 2021. Testicular volume, elastic modulus, JS, and sperm retrieval outcomes were calculated. Statistical differences in parameters between the positive and negative sperm retrieval groups were determined using the Mann-Whitney test. Spearman rank correlation analysis was performed to determine the correlations between JS and either testicular volumes or elastic modulus. Receiver operating characteristic (ROC) curves were drawn to evaluate the diagnostic performance of the testicular elastic modulus and testicular volume. Results: The JS correlated positively with testicular volume and negatively with the maximum elastic modulus (Emax) and mean elastic modulus (Emean), with correlation coefficients of 0.804, -0.686, and -0.456, respectively (P<0.01). There were significant differences in JS, testicular volume, and Emax between participants with positive and negative sperm retrieval of microdissection testicular sperm extraction (micro-TESE) (P<0.01). ROC curves were plotted for JS, testicular volume, and Emax to distinguish between participants with positive and negative sperm retrieval. The areas under the ROC curves (AUCs) were 0.783 [95% confidence interval (CI): 0.707-0.859; P<0.01], 0.737 (95% CI: 0.651-0.823; P<0.01), and 0.729 (95% CI: 0.643-0.814; P<0.01), respectively. When the cutoff value of JS was 4.5, its sensitivity and specificity were 60.3% and 89.6%, respectively. When the cutoff value of Emax was 3.75 kPa, its sensitivity and specificity were 79.1% and 64.4%, respectively. The sensitivity and specificity were 68.5% and 83.6%, respectively when the cutoff value of testicular volume was 8.17 mL. Emax combined with testicular volume improved this diagnostic value, with an AUC of 0.742 (95% CI: 0.657-0.828; P<0.01), and sensitivity and specificity were 83.6% and 68.5%, respectively. Conclusions: Our study suggests that the combination of testicular stiffness and volume measurements may serve as a viable alternative to pathological JS in predicting the likelihood of successful sperm retrieval prior to micro-TESE procedures.

Molecular profiling and patient selection for the multimodal approaches for patients with resectable colorectal liver metastases.

Colorectal cancer represents the third most common cancer and about 20% are diagnosed with synchronous metastatic disease. From a historical point of view, surgery remains the mainstream treatment for resectable colorectal liver metastases (CRLM). Furthermore, disease outcomes are improving due significant advances in systemic treatments and diagnostic methods. However, the optimal timing for neoadjuvant chemotherapy or upfront surgery for CRLM has not yet been established and remains an open question. Thus, patient selection combining image workouts, time of recurrence, positive lymph nodes, and molecular biomarkers can improve the decision-making process. Nevertheless, molecular profiling is rising as a promising field to be incorporated in the multimodal approach and guide patient selection and sequencing of treatment. Tumor biomakers, genetic profiling, and circulating tumor DNA have been used to offer as much personalized treatment as possible, based on the precision oncology concept of tailored care rather than a guideline-based therapy. This review article discusses the role of molecular pathology and biomarkers as prognostic and predictor factors in the diagnosis and treatment of resectable CRLM.

Utility of Adult-Based Discoid Lateral Meniscus Diagnostic Criteria in a Pediatric Population.

Background: Commonly cited discoid lateral meniscus (DLM) imaging definitions are based on adult magnetic resonance imaging (MRI) measurements. This pathology commonly presents in pediatric populations; however, whether accepted adult measurements reliably apply to children and adolescents is unknown. Purpose/Hypothesis: This purposes of the study were to determine (1) the utility of applying adult-accepted MRI definitions of DLM to pediatric patients, (2) whether sex differences affect the applicability of the criteria, and (3) whether MRI magnet strength and/or tear presence affect MRI measurements for diagnosing DLM in pediatric patients. It was hypothesized that MRI criteria for DLM would be similar in adults and pediatric patients. Study Design: Case series; Level of evidence, 4. Methods: A total of 100 consecutive MRIs from pediatric patients with DLM were evaluated, with 91 scans included. Two study authors independently reviewed the MRIs, evaluating meniscal height and width on sagittal and coronal images, "bow tie signs" on sagittal images, tibial sagittal and coronal width, and tear presence. For analysis, MRI magnet strength was dichotomized into high (>1.5 T) and low (<1.5 T) groups. Results: The mean age of the patients at MRI evaluation was 12.3 ± 3.4 years; 51% of the patients were male, and 56% of the scans were of left knees. Included patients with DLM showed a mean of 3.68 bow tie signs, a sagittal total anterior to posterior meniscal width/tibial width ratio of 73%, a coronal meniscal width/tibial width ratio of 30%, and a coronal, transverse width of the lateral meniscus at the midportion of the meniscal body of 20.6 ± 7.7 mm. The MRI tesla strength of the images included in this study ranged from 0.3 to 3. It was determined that high- versus low-resolution MRI scans did not affect the inter- or intraobserver reliability of the MRI measurments (P > .05). However, several measurements showed improved intraclass correlation coefficients with increased tesla strength. Conclusion: This study confirms that pediatric patients with DLM, diagnosed by board-certified pediatric sports medicine orthopaedic surgeons, have measurements on MRI consistent with adult DLM diagnostic criteria. This finding held true regardless of sex or MRI tesla strength. Pediatric patients with DLM had >3 bow tie signs, >70% sagittal tibial plateau coverage, >14 mm coronal width, and >20% coronal tibial plateau coverage on MRI.

An artificial intelligence model for detecting pathological lymph node metastasis in prostate cancer using whole slide images: a retrospective, multicentre, diagnostic study.

Background: The pathological examination of lymph node metastasis (LNM) is crucial for treating prostate cancer (PCa). However, the limitations with naked-eye detection and pathologist workload contribute to a high missed-diagnosis rate for nodal micrometastasis. We aimed to develop an artificial intelligence (AI)-based, time-efficient, and high-precision PCa LNM detector (ProCaLNMD) and evaluate its clinical application value. Methods: In this multicentre, retrospective, diagnostic study, consecutive patients with PCa who underwent radical prostatectomy and pelvic lymph node dissection at five centres between Sep 2, 2013 and Apr 28, 2023 were included, and histopathological slides of resected lymph nodes were collected and digitised as whole-slide images for model development and validation. ProCaLNMD was trained at a dataset from a single centre (the Sun Yat-sen Memorial Hospital of Sun Yat-sen University [SYSMH]), and externally validated in the other four centres. A bladder cancer dataset from SYSMH was used to further validate ProCaLNMD, and an additional validation (human-AI comparison and collaboration study) containing consecutive patients with PCa from SYSMH was implemented to evaluate the application value of integrating ProCaLNMD into the clinical workflow. The primary endpoint was the area under the receiver operating characteristic curve (AUROC) of ProCaLNMD. In addition, the performance measures for pathologists with ProCaLNMD assistance was also assessed. Findings: In total, 8225 slides from 1297 patients with PCa were collected and digitised. Overall, 8158 slides (18,761 lymph nodes) from 1297 patients with PCa (median age 68 years [interquartile range 64-73]; 331 [26%] with LNM) were used to train and validate ProCaLNMD. The AUROC of ProCaLNMD ranged from 0.975 (95% confidence interval 0.953-0.998) to 0.992 (0.982-1.000) in the training and validation datasets, with sensitivities > 0.955 and specificities > 0.921. ProCaLNMD also demonstrated an AUROC of 0.979 in the cross-cancer dataset. ProCaLNMD use triggered true reclassification in 43 (4.3%) slides in which micrometastatic tumour regions were initially missed by pathologists, thereby correcting 28 (8.5%) missed-diagnosed cases of previous routine pathological reports. In the human-AI comparison and collaboration study, the sensitivity of ProCaLNMD (0.983 [0.908-1.000]) surpassed that of two junior pathologists (0.862 [0.746-0.939], P = 0.023; 0.879 [0.767-0.950], P = 0.041) by 10-12% and showed no difference to that of two senior pathologists (both 0.983 [0.908-1.000], both P > 0.99). Furthermore, ProCaLNMD significantly boosted the diagnostic sensitivity of two junior pathologists (both P = 0.041) to the level of senior pathologists (both P > 0.99), and substantially reduced the four pathologists' slide reviewing time (-31%, P < 0.0001; -34%, P < 0.0001; -29%, P < 0.0001; and -27%, P = 0.00031). Interpretation: ProCaLNMD demonstrated high diagnostic capabilities for identifying LNM in prostate cancer, reducing the likelihood of missed diagnoses by pathologists and decreasing the slide reviewing time, highlighting its potential for clinical application. Funding: National Natural Science Foundation of China, the Science and Technology Planning Project of Guangdong Province, the National Key Research and Development Programme of China, the Guangdong Provincial Clinical Research Centre for Urological Diseases, and the Science and Technology Projects in Guangzhou.

The Impact of Gender Diversity on Excellence in Pathology Research and Education.

In this editorial, we inspect the critical role of gender diversity within the domain of pathology and its consequential impact on research innovation and clinical outcomes. The editorial commences with a historical overview of gender disparities in pathology, acknowledging advancements toward gender parity while highlighting persistent impediments to full inclusivity. The discourse emphasizes the intrinsic value of integrating diverse gender perspectives in research, illustrating how such inclusivity catalyzes innovation, mitigates research biases, and elevates the standard of patient care through a more comprehensive understanding of the field of pathology. Key barriers to gender diversity in pathology are systematically analysed, including disproportionate clinical burdens, time allocation conflicts due to societal roles, restricted access to specialized training, financial limitations, inadequate support networks, workplace discrimination, and the challenge of balancing family responsibilities with professional aspirations. We propose strategic interventions to address these barriers, advocating for increased awareness, diversity-focused training programs, and mechanisms for recognizing and rewarding the contributions of underrepresented genders in the field. Furthermore, we highlight exemplary initiatives that have successfully promoted gender diversity, such as the Johns Hopkins Pathology Department's outreach program, and the role of professional organizations, notably the American Society for Investigative Pathology and its "Women in Pathology" community, is discussed as pivotal in celebrating and advancing women's contributions to the field of pathology. In conclusion, we suggest that dismantling gender bias is imperative for realizing the full potential of pathology as a discipline. The editorial argues for a systemic embrace of gender diversity and inclusivity as fundamental to fostering research innovation, enhancing clinical practice, and ultimately improving patient outcomes. This scholarly examination calls for a concerted effort within the pathology community to integrate diverse perspectives, thereby enriching the field and contributing to the advancement of medical science.

Developing Odontoma in the Mandible of an Eight-Year-Old Boy.

Benign mixed odontogenic tumors have been repeatedly classified and reclassified over the past few decades. Odontoma is considered a hamartoma due to its slow growth and non-aggressive nature. We present an interesting case of developing odontoma in an eight-year-old boy. His complaint was a slow-growing swelling in the lower right back tooth region. Clinical examination revealed a carious deciduous second molar. The orthopantomogram revealed a well-defined radiolucency around the unerupted mandibular first premolar and impacted mandibular second premolar. Histopathology revealed an odontogenic epithelial lining overlying myxofibrous stroma with inflammatory cells and calcified structures with few odontogenic rests. Special staining methods including Van Gieson and modified Gallego stains led to the final diagnosis of a developing odontoma.

Novel Insights Into the Epidemiological and Clinico-Pathological Profile of Triple-Negative Breast Cancer: Dissection of an Aggressive Variant.

Objective Triple-negative breast cancer (TNBC) represents an aggressive and prognostically poor variant of breast cancer. Over the years, detailed research has been conducted and published in Western literature. However, there lacks a detailed account of TNBC cases from the perspective of a low-volume institution. This study aims to assess the clinical features of TNBC, as well as their prognostic implications in a tertiary care centre. Methods and materials This prospective observational study took place at a tertiary health centre for two years, spanning from 2021 to 2023. The study aimed to investigate various clinicopathological and epidemiological parameters, thereby highlighting the shortcomings in the existing knowledge about the subject in the context of a low-volume centre, as well as additional contributing factors in developing countries like India. A group of 150 participants diagnosed with TNBC through biopsy and immunohistochemistry and >40 years of age were included in the study. Patients who tested positive for hormonal receptors and who refused to give consent for participation were excluded from the study. The study subjects were categorized according to their clinical TNM (cTNM) stage and eventually segregated into two primary heads, namely pre-surgery chemotherapy with breast-conserving surgery (BCS) after a good response, or modified radical mastectomy (MRM) upfront. Important demographic details, including age, socioeconomic status, and education, were also recorded. A comprehensive follow-up assessment post-treatment was performed to detect early recurrence. After data collection, the recurrence rates were correlated with the TNBC status to establish the aggressiveness of the cancer. Statistical analysis of the data was done using the Statistical Package for Social Sciences (SPSS) -16version software. Results The average age of the 150 participants in the study was 52.21 years (SD±4.89 years). The highest recorded age was 64 years, while the lowest recorded age was 45 years. In the study, it was observed that 41% of the participants diagnosed with TNBC had stage III disease, whereas 33.5% had stage I disease, 22% had stage IV disease and 3.6% had stage II disease. A total of 27.5% of individuals with TNBC exhibited metastases in various anatomical sites, whereas the other 72.5% did not show any signs of metastasis. Conclusion Triple-negative breast cancer has earned its position as a unique subtype of breast cancer due to its unusual molecular characteristics, aggressive behavior, limited treatment options, and poor prognosis. The lower per-capita income and limited knowledge pertaining to this variant, along with the absence of more specific treatment options, contribute to the already high levels of morbidity and mortality associated with this illness. To effectively address this unique and very virulent ailment and customize our strategies, it is imperative to do further comprehensive investigations, thereby enabling us to deliver the highest quality of medical attention to individuals afflicted by this pathology.

Applying Social Practice Theory to Explore Australian Preschool Children's Oral Health.

INTRODUCTION: Despite substantial research and provision of dental care, significant morbidity remains for children's oral health. Guided by social practice theory (SPT), this research moves away from the often-ineffective focus on changing individual behavior to rethinking the centrality of the social world in promoting or undermining oral health outcomes. We define social practice as a routinized relational activity linking and integrating certain elements (competence, materials, and meanings) into the performance of a practice that is reproduced across time and space. OBJECTIVE: To investigate oral health in preschool children in Perth, Western Australia, using social practice theory. METHODS: With no definitive methodology for investigating SPT, we chose focused ethnography as a problem-focused, context-specific approach using mainly interviews to investigate participants' experience caring for their children's oral health. The focus of analysis was the practice of oral health care, not individual behavior, where themes identified from participants' transcripts were organized into categories of elements and performance. RESULTS: Eleven parents, all of whom were married or partnered, were interviewed in 2021. Findings identified social practices relevant to oral health within parenting and family relations linked to routine daily activities, including shopping, consumption of food and beverages, and toothbrushing. Oral health literacy was reflected in integrating competence, materials, and meanings into performing oral health care, notably preferences for children to drink water over sugary beverages and information often being sourced from social media and mothers' groups rather than health providers. CONCLUSION: Focusing on social practices as the unit of analysis offers a more layered understanding of elements in young children's oral health care that can indicate where the problem may lie. Findings provide an opportunity to consider future research and policy directions in children's oral health. KNOWLEDGE TRANSFER STATEMENT: Examining social practices related to young children's oral health care identifies parents/carers' knowledge about, for example, toothbrushing, the resources required, and why toothbrushing is important. Analyzing these separate elements can reveal both enablers and barriers to oral health care. This provides researchers, clinicians and policymakers an opportunity to focus on not changing individual behavior but understanding how social context impacts parents/carers' capacity to make optimum decisions around young children's oral health.

Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.

Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme plays a crucial role in the oxidation of fatty acids. The autopsy pathology of the CACT deficiency is described in only a few cases. We describe the autopsy pathology of a child with CACT deficiency dominantly in the form of microvesicular steatosis of the hepatocytes, renal proximal tubular epithelia, cardiac myocytes, and rhabdomyocytes. The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the SLC25A20 gene. This case elucidates the histopathology of the liver and the detailed autopsy of a case of CACT deficiency from India.

Long-term course of untreated asymptomatic esophageal eosinophilia and minimally symptomatic eosinophilic esophagitis.

Background and study aims The long-term course of untreated asymptomatic esophageal eosinophilia (aEE) and minimally symptomatic eosinophilic esophagitis (mEoE) are not well understood. This study aimed to clarify this course. Patients and methods A total of 36 patients with EE who were endoscopically followed up for more than 5 years, and who underwent more than one endoscopy evaluation after the first diagnosis, were investigated. These patients were divided into two groups according to the presence or absence of the continuous treatment: no treatment group (NT group, n=22) and proton pump inhibitor/potassium competitive acid blocker group (Tx group, n=14). Symptoms and endoscopic and histological findings were retrospectively reviewed according to endoscopic phenotypes. Endoscopic assessment was performed using the EoE endoscopic reference score (EREFS). Results The median follow-up period was 84.5 months in the Tx group and 92 months in the NT group. During the follow-up period, about half of the patients in the Tx-diffuse group persisted EREFS >3, while the remaining half had EREFS ≤2. The total EREFS in the NT-diffuse group remained almost unchanged (median: 2-4) without apparent exacerbation. In contrast, EREFS in the NT-localized group exhibited an unchanged or gradually decreasing trend, with statistical significance from the first diagnosis to 72 to 83 months after. Conclusions Untreated aEE and mEoE are not likely to worsen even without treatment at least for a median follow-up of 7 years. Instead, the localized type may spontaneously improve, implying a different pathogenesis in the presence of the diffuse type. Further studies should clarify the long-term prognosis.

Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas.

A pathology-supported genetic testing (PSGT) framework was established in South Africa to improve access to precision medicine for patients with breast carcinomas. Nevertheless, the frequent identification of variants of uncertain significance (VUSs) with the use of genome-scale next-generation sequencing has created a bottleneck in the return of results to patients. This review highlights the importance of incorporating functional genomics into the PSGT framework as a proposed initiative. Here, we explore various model systems and experimental methods available for conducting functional studies in South Africa to enhance both variant classification and clinical interpretation. We emphasize the distinct advantages of using in vitro, in vivo, and translational ex vivo models to improve the effectiveness of precision oncology. Moreover, we highlight the relevance of methodologies such as protein modelling and structural bioinformatics, multi-omics, metabolic activity assays, flow cytometry, cell migration and invasion assays, tube-formation assays, multiplex assays of variant effect, and database mining and machine learning models. The selection of the appropriate experimental approach largely depends on the molecular mechanism of the gene under investigation and the predicted functional effect of the VUS. However, before making final decisions regarding the pathogenicity of VUSs, it is essential to assess the functional evidence and clinical outcomes under current variant interpretation guidelines. The inclusion of a functional genomics infrastructure within the PSGT framework will significantly advance the reclassification of VUSs and enhance the precision medicine pipeline for patients with breast carcinomas in South Africa.

Environmental pollutants exposure-derived extracellular vesicles: crucial players in respiratory disorders.

BACKGROUND: Individual exposure to environmental pollutants, as one of the most influential drivers of respiratory disorders, has received considerable attention due to its preventability and controllability. Considering that the extracellular vesicle (EV) was an emerging intercellular communication medium, recent studies have highlighted the crucial role of environmental pollutants derived EVs (EPE-EVs) in respiratory disorders. METHODS: PubMed and Web of Science were searched from January 2018 to December 2023 for publications with key words of environmental pollutants, respiratory disorders and EVs. RESULTS: Environmental pollutants could disrupt airway intercellular communication by indirectly stimulating airway barrier cells to secrete endogenous EVs, or directly transmitting exogenous EVs, mainly by biological pollutants. Mechanistically, EPE-EVs transferred specific contents to modulate biological functions of recipient cells, to induce respiratory inflammation and impair tissue and immune function, which consequently contributed to the development of respiratory diseases, such as asthma, chronic obstructive pulmonary disease, pulmonary fibrosis, pulmonary hypertension, lung cancer and infectious lung diseases. Clinically, EVs could emerged as promising biomarkers and biological agents for respiratory diseases attributed by their specificity, convenience, sensibility and stability. CONCLUSIONS: Further studies of EPE-EVs are helpful to understand the aetiology and pathology of respiratory diseases, and facilitate the precision respiratory medicine in risk screening, early diagnosis, clinical management and biotherapy.