DBScope as a versatile computational toolbox for the visualization and analysis of sensing data from deep brain stimulation.

Different neurostimulators for deep brain stimulation (DBS) come already with the ability to chronically sense local field potentials during stimulation. This invaluable new data has the potential to increase our understanding of disease-related brain activity patterns, their temporal evolution, and their modulation in response to therapies. It also gives the opportunity to unveil new electrophysiological biomarkers and ultimately bring adaptive stimulation therapies closer to clinical practice. Unfortunately, there are still very limited options on how to visualize, analyze, and exploit the full potential of the sensing data from these new DBS neurostimulators. To answer this need, we developed a free open-source toolbox, named DBScope, that imports data from neurostimulation devices and can be operated in two ways: via user interface and programmatically, as a library of functions. In this way, it can be used by both clinicians during clinical sessions (for instance, to visually inspect data from the current or previous in-clinic visits), and by researchers in their research pipelines (e.g., for pre-processing, feature extraction and biomarker search). All in all, the DBScope toolbox is set to facilitate the clinical decision-making process and the identification of clinically relevant biomarkers. The toolbox is already being used in clinical and research environments, and it is freely available to download at GitHub (where it is also fully documented).

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

OBJECTIVE: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. METHODS: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. RESULTS: A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. CONCLUSIONS: Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.

Aspectos éticos e legais da estabilização protetora em odontologia ­ revisão integrativa / Ethical and legal aspects of protective stabilization in Dentistry ­ integrative review

A estabilização protetora tem sido utilizada em procedimentos na área da saúde por décadas para gestão do comportamento, em especial quando as técnicas comunicativas falham. O uso da estabilização tem como objetivo criar um ambiente seguro para a conduta terapêutica, promovendo agilidade nos procedimentos odontológicos, com manutenção da integridade física do paciente e da equipe. Embora apresente benefícios, a sua aplicação é um dilema especialmente em pacientes pediátricos e com necessidades especiais, devido à natureza da restrição física envolvida. O presente trabalho trata-se de uma revisão de literatura integrativa e teve como objetivo descrever os aspectos éticos e legais que envolvem o uso de estabilização protetora no atendimento odontológico. A busca abrangeu estudos desenvolvidos nos últimos 10 anos, pelos descritores "Ética", "Contenção Física", "Odontologia" de acordo com o DeCS e MeSH, além de legislações e normas brasileiras. Na tomada de decisão clínica, os princípios da autonomia, beneficência, não maleficência e justiça devem ser considerados. O consentimento informado, a ponderação dos riscos, benefícios e a informação aos responsáveis são requisitos fundamentais para evitar violações de direitos e preservar a integridade de pacientes e da equipe de cuidado à saúde

Protective stabilization has been used in healthcare procedures for decades to manage behavior, especially when communicative techniques fail. Protective stabilization aims to create a safe environment for therapeutic conduct, promoting efficiency in dental procedures while maintaining the physical integrity of the patient and the staff as well. Despite its benefits, its application poses a dilemma especially with pediatric and patients with special needs, due to the nature of physical restraint involved. The present study is an integrative literature review that aims to describe the ethical and legal aspects surrounding the use of protective stabilization in dental care. The search encompassed studies conducted in the last 10 years, using the descriptors "Ethics," "Physical Restraint," and "Dentistry" according to DeCS and MeSH, as well as Brazilian legislation and regulations. In clinical decision-making, the principles of autonomy, beneficence, non-maleficence, and justice should be considered. Informed consent, weighing risks and benefits, and providing information to guardians are fundamental requirements to prevent rights violations and preserve the integrity of patients and healthcare staff

Neurophotonics: a comprehensive review, current challenges and future trends.

The human brain, with its vast network of billions of neurons and trillions of synapses (connections) between diverse cell types, remains one of the greatest mysteries in science and medicine. Despite extensive research, an understanding of the underlying mechanisms that drive normal behaviors and response to disease states is still limited. Advancement in the Neuroscience field and development of therapeutics for related pathologies requires innovative technologies that can provide a dynamic and systematic understanding of the interactions between neurons and neural circuits. In this work, we provide an up-to-date overview of the evolution of neurophotonic approaches in the last 10 years through a multi-source, literature analysis. From an initial corpus of 243 papers retrieved from Scopus, PubMed and WoS databases, we have followed the PRISMA approach to select 56 papers in the area. Following a full-text evaluation of these 56 scientific articles, six main areas of applied research were identified and discussed: (1) Advanced optogenetics, (2) Multimodal neural interfaces, (3) Innovative therapeutics, (4) Imaging devices and probes, (5) Remote operations, and (6) Microfluidic platforms. For each area, the main technologies selected are discussed according to the photonic principles applied, the neuroscience application evaluated and the more indicative results of efficiency and scientific potential. This detailed analysis is followed by an outlook of the main challenges tackled over the last 10 years in the Neurophotonics field, as well as the main technological advances regarding specificity, light delivery, multimodality, imaging, materials and system designs. We conclude with a discussion of considerable challenges for future innovation and translation in Neurophotonics, from light delivery within the brain to physical constraints and data management strategies.

Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.

INTRODUCTION AND OBJECTIVE: Prenatal suspicion of disorders/differences of sex development (DSDs) is a relatively new phenomenon. The aim of this study was to review the prenatal findings of DSD cases postnatally diagnosed in our tertiary referral center. METHODS: We evaluated 57 DSD cases with sex ambiguity who had undergone prenatal ultrasound with phenotypic sex assessment and/or cell-free fetal DNA (cffDNA) for genotypic sex assessment. RESULTS: Prenatal cffDNA had been performed in 32 cases, being positive (suggestive of male genotypic sex) in 26 and negative (suggestive of female genotypic sex) in 6. Five with cffDNA negative had a prenatal ultrasound indicating female external genitalia, in turn, in those with cffDNA positive, only two had a prenatal ultrasound indicating male external genitalia. Our postnatal data showed that when external genitalia were female or poorly virilized, prenatal ultrasound indicated female sex, but in cases of higher degree of virilization, ultrasound showed similar rates of male, female, or undetermined sex. Regarding the karyotype, our data showed those with XY karyotype had positive cffDNA, those with XX karyotype had negative cffDNA, and all five with sex chromosome anomalies had positive cffDNA because they were 45,X/46,XY. We suggested an algorithm to investigate these cases during gestation, including evaluation of uterus, fetal growth, and malformations. CONCLUSION: We suggest that the parents should be counseled prenatally by a dedicated multidisciplinary team with experience in DSD management and evaluated as soon as possible after birth.

DHX37 and the implications in Disorders of Sex Development: an update review.

BACKGROUND: DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reported in two different phenotypes: neurodevelopmental disorders and disorders/differences of sex development (DSD). Particularly for the DSD group, variants were mainly reported associated with gonadal dysgenesis and testicular regression syndrome. SUMMARY: Focusing specific in the DSD group, we revised the 21 DHX37 variants described across a total of 55 cases published in the literature so far. We summarized the most important clinical and molecular features of all cases, trying to have a better comprehensiveness about this gene in the sexual development. KEY MESSAGES: The trick question regarding DHX37 is how a helicase involved in basic cell function could have a specific role in testis development. Little is known about the impact of DHX37 variants in DSD individuals. Nevertheless, current research strongly suggests that DHX37 is involved in the male sex development pathway, particularly in testis determination and maintenance. This is evidenced by the predominant assignment of affected individuals as males and the presence of Wolffian structures in most of the cases. Advancements in molecular techniques, such as the generation of induced pluripotent stem cells, and the digenic inheritance for DHX37 cases, are also addressed in this paper. This represents the first comprehensive review of all DHX37 variants published in the literature to date.

A oferta dos conteúdos de Odontologia Legal no ensino superior do estado do Paraná / The provision of Forensic Dentistry content in higher education in the state of Paraná

Com as crescentes ações indenizatórias e infrações cometidas no meio odontológico, para que cirurgiões dentistas exerçam sua profissão de forma segura, a odontologia legal deve ser abordada nas Faculdades de odontologia. O presente estudo analisou os currículos dos cursos de Odontologia das faculdades do estado do Paraná, avaliando se estão adequadas às diretrizes do ensino da Odontologia Legal, propostas pela ABOL e ABENO. Foi realizada uma pesquisa descritiva de análise documental dos dados coletados de IES do Paraná cadastradas no e-MEC. O levantamento das informações ocorreu no período entre junho e agosto de 2021. Foi feita a análise dos currículos em comparação com as Diretrizes Curriculares Nacionais e com as diretrizes da ABENO e ABOL. Todas as 30 IES que disponibilizam as informações completas para estudo possuem em seu currículo ao menos uma disciplina relacionada ao conteúdo de Odontologia Legal, com carga horária média para Odontologia Legal de 60,1h. Destas, 26 (86,7%) IES ofertam apenas uma disciplina de Odontologia Legal. O Oeste paranaense (69h) e a região metropolitana de Curitiba (68,9h) obtiveram as maiores médias de horas para a disciplina e o Sudoeste paranaense a menor (39,5h). As IES do Estado do Paraná oferecem conteúdo de Odontologia Legal com carga horária abaixo da recomendada pelas diretrizes ABOL/ABENO. A grande maioria das IES oferece apenas uma disciplina que aborda conteúdos de Odontologia Legal.

With the growing claims for damages and infractions committed in the dental field, legal dentistry must be addressed in Dental Schools for dentists to exercise their profession safely. The present study analyzed the curricula of Dentistry courses at colleges in the state of Paraná, assessing whether they are adequate to the teaching guidelines of Forensic Dentistry, proposed by ABOL and ABENO. Descriptive document analysis research was carried out, and data collected from HEIs in Paraná was registered in the e-MEC. The survey of information took place between June and August 2021. The curricula were analyzed in comparison with the National Curriculum Guidelines and with the ABENO and ABOL guidelines. All 30 HEIs that provide complete information for study have in their curriculum at least one discipline related to the content of Forensic Dentistry, with an average workload for Forensic Dentistry of 60.1 hours. Of these, 26 (86.7%) HEIs offer only one course in Forensic Dentistry. West Paraná (69h) and the metropolitan region of Curitiba (68.9h) obtained the highest average hours for the discipline and Southwest Paraná had the lowest (39.5h). HEIs in the State of Paraná offer Forensic Dentistry content with a workload below what the ABOL/ABENO guidelines recommended. The vast majority of HEIs offer only one discipline that addresses Forensic Dentistry content.

Aspectos éticos e legais da separação entre o paciente odontológico e seu acompanhante ­ revisão de literatura / Ethical and legal aspects of the separation between dental patient and caregiver ­ a review

Técnicas de manejo comportamental são debatidas com frequência no âmbito odontológico. Dentre elas, a presença/ausência dos responsáveis legais na sala durante o atendimento do paciente é, ao mesmo tempo, simples e desafiadora de ser aplicada. O aumento do desejo dos pais em permanecer no consultório durante o atendimento traz consigo a importância de discutir os conflitos éticos e legais do uso dessa técnica. A revisão de literatura proposta teve como base os descritores "Pediatric Dentistry", "Child Behavior" e "Parents" e seus sinônimos, nas bases de dados Cochrane Library, LILACS, PubMed/MEDLINE, SciELO e Scopus, nos últimos 5 anos. Os resultados apontam divergências no estabelecimento de uma regra a ser seguida. Alguns trabalhos relatam que a presença de acompanhantes durante consultas odontológicas representa um importante apoio emocional para pacientes, resultando em melhor manejo de comportamento. Em contrapartida, a técnica de separação pode apresentar benefícios por consolidar a relação profissional-paciente. Contrapondo vantagens e desvantagens observadas na permanência e na separação dos acompanhantes em seus aspectos éticos (Código de Ética Odontológico) e legais (Código Civil, Estatuto da Criança e do Adolescente e Código de Proteção e Defesa do Consumidor), a literatura científica assinala que a maioria dos acompanhantes e crianças expressa o desejo de não serem separados durante o atendimento. Pacientes considerados incapazes não têm como exercer autonomia nas decisões relacionadas à assistência odontológica. Para os adolescentes, a conquista da autonomia ocorre conforme a maturidade do indivíduo. A incorporação dos responsáveis legais na tomada de decisão divide responsabilidades e traz legitimidade às condutas terapêuticas

Behavioral management techniques are frequently debated in the dental field. Among them, the presence/absence of legal guardians in the room during patient care is, at the same time, simple and challenging to apply. The increased desire of parents to remain in the office during care brings with it the importance of discussing the ethical and legal conflicts of using this technique. The proposed literature review was based on the descriptors "Pediatric Dentistry", "Child Behavior" and "Parents" and their synonyms, in the Cochrane Library, LILACS, PubMed/MEDLINE, SciELO and Scopus databases, over the last 5 years. The results point to divergences in establishing a rule to be followed. Some studies report that the presence of companions during dental appointments represents important emotional support for patients, resulting in better behavioral management. On the other hand, the separation technique can present benefits by consolidating the professional-patient relationship. Contrasting advantages and disadvantages observed in the permanence and separation of companions in their ethical (Dental Code of Ethics) and legal aspects (Civil Code, Child and Adolescent Statute and Consumer Protection and Defense Code), the scientific literature points out that most companions and children express the desire not to be separated during care. Patients considered incapable cannot exercise autonomy in decisions related to dental care. For adolescents, achieving autonomy occurs according to the individual's maturity. The incorporation of legal guardians in decision-making divides responsibilities and brings legitimacy to therapeutic behaviors

Fractal dimension, lacunarity, and cortical thickness in the mandible: Analyzing differences between healthy men and women with cone-beam computed tomography.

Purpose: The objective of this study was to assess the fractal dimension, lacunarity, trabecular microarchitecture parameters, and cortical linear measurements in the mandibles of male and female individuals to identify differences between them. Materials and Methods: In total, 116 cone-beam computed tomography scans of healthy individuals of different ages (57 men and 59 women, aged between 20 and 60 years) were selected. The following bone parameters were measured: 1) buccal, lingual, and basal cortical bone thickness in 5 standard parasagittal sections (the midline, the left and right sides of the lower lateral incisors, and the left and right sides of the lower canines); 2) the bone volume fraction of 10 sequential axial sections from each patient by creating a volume of interest in the area between the lower canines; and 3) fractal dimension and lacunarity using grayscale images of the same region of the volume of interest in the anterior mandible. Spearman correlation coefficients and the Mann-Whitney test were used. Results: A significant and positive correlation was found between age and cortical thickness, especially in the region of the central incisors. Significant differences between sexes in terms of fractal dimension, lacunarity, and bone volume were found. Women revealed lower fractal dimension values and higher lacunarity and bone volume ratio values than men. Conclusion: Fractal dimension, lacunarity, trabecular bone volume, and cortical thickness were different between men and women of different ages.

Study of court decisions on dental errors in the state of Rio Grande do Sul, Brazil.

The professional relationship between dentists and patients is considered as a service provider-client. When the patient-client feels harmed due to dental error, he may seek economic reparation by lodging a lawsuit. The present research analyzed appellate court decisions on dental errors in the state of Rio Grande do Sul, Brazil, from 2003 to 2019. The results show an increase in judgments. The most cited specialties were surgery, orthodontics, implantology, prosthesis, endodontics, periodontics, and general practice. Most appellate court decisions upheld the sentences. A decrease in the number of outcomes pronouncing dentists and/or clinics guilty was observed over the period. Most of the lawsuits were lodged under the Free Legal Assistance program. The high percentage of court decisions citing inclusion of an expert report highlights the importance of expertise in providing judges with technical clarification. Moral injury recorded the highest pecuniary sums, followed by compensation for material damage and aesthetic damage.

Ensino da Odontologia Legal nos cursos de graduação em odontologia do estado de Santa Catarina e suas implicações / Teaching Forensic Dentistry in undergraduate dentistry courses in the state of Santa Catarina and your implications

A Odontologia Legal é uma área de conhecimento importante para a formação de profissionais mais conscientes e pautados em princípios éticos e legais. O presente estudo objetivou verificar se as escolas de Odontologia do Estado de Santa Catarina se adequaram às diretrizes sugeridas pela ABOL, por meio de análise documental do projeto pedagógico de curso (PPC), matriz curricular e/ou ementa de disciplinas. Das 18 IES com graduação em odontologia de Santa Catarina, 14 disponibilizaram a documentação de interesse do estudo. Todas as 14 ofertam disciplinas que abordam conteúdo de Deontologia e Diceologia e Orientação Profissional e 13 ofertam a disciplina de Odontologia Legal em seus currículos. Na maioria das IES as disciplinas têm carga horária abaixo das 60h recomendadas. As disciplinas que tratam de Deontologia e Diceologia e Orientação Profissional são ofertadas, antes das práticas clínicas em 36% das IES. Em 79% das IES a disciplina de Odontologia Legal é ofertada nos períodos finais da graduação. O estudo mostra que nenhuma IES de SC conseguiu adequar completamente seus currículos às diretrizes propostas pela ABOL e ABENO

Forensic Dentistry is an important area of knowledge for training professionals who are more aware and based on ethical and legal principles. The present study aimed to verifies whether the schools of Dentistry in the State of Santa Catarina have complied with the guidelines suggested by ABOL, through documental analysis of the pedagogical project of the course (PPC), curricular matrix and/or course syllabus. Of the 18 HEIs with a degree in dentistry in Santa Catarina, 14 provided documentation of interest to the study. All 14 institutions offer courses that address the content of Deontology and Professional Ethics and 13 offers the discipline of Forensic Dentistry in their curricula. In most HEIs, subjects have a workload below the recommended 60 hours. Disciplines dealing with Deontology and Diceology and Professional Guidance are offered before clinical practices in 36% of HEIs. In 79% of the HEIs, the discipline of Forensic Dentistry is offered in the final periods of graduation. The study shows that none of the HEIs in SC managed to completely adapt their curricula to the guidelines proposed by ABOL and ABENO

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

INTRODUCTION: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls. METHODS: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls. RESULTS: Among the 11 individuals who fulfilled the key criteria for inclusion, the external masculinization score (EMS) at presentation ranged from 2 to 6 (median 5); 7 girls underwent gonadectomy before the age of 9 years, whereas 4 underwent gonadectomy in the teenage years (≥ age 13). Clitoral enlargement at puberty was reported for 3 girls (27%) who presented initially at the time of puberty with intact gonads. In the 9 individuals (82%) for whom gonadal pathology data were provided, there was no evidence of germ cell tumor at median age of 8.1 years. All girls received estrogen replacement, and 8/11 had attained Tanner stage 4-5 breast development at the last assessment. CONCLUSION: In general, although it appears that female assignment in PAIS is becoming uncommon, our data provide no evidence to support the practice of prophylactic prepubertal gonadectomy with respect to the risk of a germ cell tumor.

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.

Ovotesticular disorders of sex development (OT-DSD) are characterized by ovarian follicles and seminiferous tubules in the same individual, with a wide range of atypical genitalia. We report on two sibs with atypical genitalia and SRY-negative 46,XX DSD, OT-DSD was confirmed only in the boy, while the girl had bilateral ovaries. Chromosome microarray analysis (CMA) showed a 737-kb duplication at Xq27.1 including the entire SOX3 gene in both sibs, which was confirmed by quantitative real time PCR. Also, X chromosome inactivation assay showed random inactivation in both sibs. Whole exome sequencing revealed no pathogenic or likely pathogenic variant. CMA of the parents showed normal results for both, suggesting that germline mosaicism could be the reason of recurrence of this duplication in the siblings. Our results support a pathogenic role of SOX3 overexpression in 46,XX subjects leading to variable DSD phenotypes.

Percepção dos estudantes de odontologia sobre o abuso infantil na cidade de Florianópolis (SC), Brasil / Perception of dental students about child abuse in the city of Florianópolis (SC), Brazil

O abuso infantil é, ainda, um dos grandes problemas de saúde pública no Brasil e no mundo, sendo que em 2020, houve o registro de mais de 75 mil notificações no Brasil. É de suma importância que os profissionais de saúde, sobretudo, cirurgiões-dentistas, estejam capacitados para fazer a identificação e notificação de suspeitas e casos de abuso infantil. Esta pesquisa analisou a percepção dos estudantes de odontologia da Universidade Federal de Santa Catarina (UFSC) sobre o abuso infantil e instrução destes para a realização da notificação compulsória às autoridades na cidade de Florianópolis. Foi aplicado um questionário eletrônico com dezesseis questões abertas e fechadas, previamente estabelecidas pelos autores, tendo como base estudos anteriores sobre o tema. A amostra não-probabilística composta por 69 participantes de todas as fases do curso de graduação em odontologia da UFSC por meio de um estudo transversal. Mais de 97% (n=67) dos entrevistados afirmaram saber o que é abuso infantil, no entanto, aproximadamente 80% (n=54) afirmaram não saber proceder frente a um caso, cerca de 90% (n=62) afirmaram não conhecer a legislação sobre notificação compulsória e 80% (n=57) afirmaram haver interesse em buscar informações sobre o tema. É imprescindível que estudantes de odontologia e cirurgiões-dentistas sejam capazes não só identificar casos de abuso infantil, mas como proceder e mitigar o ciclo de violência no qual esta criança está inserida

Child abuse is still a major public health problem in Brazil and worldwide, with more than 75,000 notifications in Brazil in 2020. It is of utmost importance that health professionals, especially dentists, are trained to identify and report suspected and reported cases of child abuse. This study analyzed the perception of dental students at the Federal University of Santa Catarina (UFSC) about child abuse and their instruction to make the compulsory notification to the authorities in the city of Florianópolis. An electronic questionnaire with sixteen open and closed questions previously established by the authors based on previous studies on the subject was applied to a non-probabilistic sample consisting of 69 participants from all stages of the undergraduate dental course at UFSC. More than 97% (n=67) of the participants said they knew what child abuse was, however, approximately 80% (n=54) said they did not know how to proceed when faced with a case and about 90% (n=62) said they did not know the legislation about compulsory notification and 80% (n=57) said they were interested in seeking information on the subject. It is essential that dental students and dentists are able not only to identify cases of child abuse, but how to proceed and mitigate the cycle of violence in which this child is inserted

Quality Control in Digital Pathology: Automatic Fragment Detection and Counting.

Manual assessment of fragments during the pro-cessing of pathology specimens is critical to ensure that the material available for slide analysis matches that captured during grossing without losing valuable material during this process. However, this step is still performed manually, resulting in lost time and delays in making the complete case available for evaluation by the pathologist. To overcome this limitation, we developed an autonomous system that can detect and count the number of fragments contained on each slide. We applied and compared two different methods: conventional machine learning methods and deep convolutional network methods. For conventional machine learning methods, we tested a two-stage approach with a supervised classifier followed by unsupervised hierarchical clustering. In addition, Fast R-CNN and YOLOv5, two state-of-the-art deep learning models for detection, were used and compared. All experiments were performed on a dataset comprising 1276 images of colorec-tal biopsy and polypectomy specimens manually labeled for fragment/set detection. The best results were obtained with the YOLOv5 architecture with a map@0.5 of 0.977 for fragment/set detection.

Trans-Fat Labeling in Packaged Foods Sold in Brazil Before and After Changes in Regulatory Criteria for Trans-Fat-Free Claims on Food Labels.

Consumption of industrially produced trans-fat acids (TFA) is a public health concern. Therefore, it is important that information on TFA in packaged foods be clearly informed to consumers. This study aimed to assess the evolution of TFA information presented in packaged foods sold in Brazil in 2010 and 2013, before and after the introduction of stricter regulatory requirements for TFA-free claims on food labels. A repeated cross-sectional study was performed through food label censuses of all packaged foods available for sale in two stores from the same supermarket chain, totaling 2,327 foods products in 2010 and 3,176 in 2013. TFA-free claims and information indicating TFA in the ingredients list and nutrition facts label were analyzed by descriptive statistics and Pearson's chi-square test. There was a 14% decrease in the use of ingredients containing or potentially containing industrially produced TFA (i-TFA), according to analysis of the ingredients list. However, when analyzing foods by groups, it was found that this decrease was significant only for group A (bakery goods, bread, cereals, and related products; from 59 to 35%, p < 0.001). By contrast, food group F (gravies, sauces, ready-made seasonings, broths, soups, and ready-to-eat dishes) showed a 5% increase in i-TFA. The use of specific terms for i-TFA decreased between 2010 and 2013, but there was an increase in the use of alternative terms, such as vegetable fat and margarine, which do not allow consumers to reliably identify whether a food product is a possible source of i-TFA. There was an 18% decrease in the use of TFA-free claims in products containing or potentially containing i-TFA. However, almost one-third of foods sold in 2013 were false negatives, that is, foods reported to contain 0 g of TFA in the nutrition facts label or with TFA-free claims but displaying specific or alternative terms for i-TFA in the ingredients list. The results indicate that adoption of stricter requirements for TFA-free claims on food labels in Brazil helped reduce the prevalence of such claims but was not sufficient to decrease i-TFA in industrialized foods sold in supermarkets.

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

INTRODUCTION: The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit, severity of genital ambiguity, and karyotype. METHODS: The time of diagnosis was divided into 3 groups: before 2000, between 2000 and 2006, and after 2006. Data were categorized and analyzed using the χ2 test with α < 0.05. RESULTS: A total of 567 cases were analyzed; 307 were assigned as male, 135 as female, and 125 remained undefined at the first visit. After clinical and laboratory evaluations, 369 patients were male and 198 were female. Neither initial nor final sex assignment proportions changed over time, but there were significant differences in the age at first visit, with referral occurring at an earlier age, as well as more severe genital ambiguity presentations, a higher proportion of sex chromosome aberrations, and a lower frequency of 46,XX DSD cases. This occurred both in the sample as a whole (567 cases) and in the group of 125 patients without definitive sex assignment at the first visit. The results were similar when only 284 patients aged less than 12 months at the first visit were analyzed. DISCUSSION/CONCLUSION: Over time, there were no changes in sex assignment proportions, but there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects.

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.

A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21), GK and partially TAB3, upstream of NR0B1. This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis.

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.

INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. METHODS: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included. RESULTS: Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13/16 gonads) and bilateral OT-DSD (5/8 cases). CONCLUSION: The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation.