"I Am from the Ghetto, I Am Black, I Live in the Slum and They Think: Why Bother with Her?" - Racism in Seeking Help Experiences for Domestic Violence in Brazil.

Despite the majority of Brazilians identifying as black, racial disparities are significant. Black women encounter disproportionate difficulties, with greater rates of homicide, unemployment, and poverty. After the Maria da Penha Law (2006), which is regarded as one of the most comprehensive laws to address domestic violence, there has been a notable increase in femicide among black women and a decrease in cases among white women. This paper aims to analyze the differences between white and black survivors of domestic violence in terms of the access and support they received from the violence against women multi agency network in the city of São Paulo, Brazil. To this end, in-depth interviews (IDI) were conducted with nine white and nine black women who were seeking help in the justice system in June of 2018. The IDI were analyzed under critical path and structural racism theories, in order to understand how inequality markers such as race might affect the institutional response to the survivor's help seeking. The results indicated that black women received less information and support while seeking institutional help, as they faced more obstacles compared to white women. Among the interviewees critical paths, the access to the services was denied by providers 13 times for black women in contrast with 1 access denial for white women-also considering cases that discontinued the needed assistance due to institutional violence. The observed obstacles lived by black women in the multiagency network not only resulted in the path for these women toward support being longer but in many cases being repeated unsuccessfully multiple times. This study concludes that thus all women face obstacles while seeking help in formal institutions, black women may face greater barriers in this path due to how structural racism is reproduced in the services that should guarantee rights.

Effectiveness and safety of cefazolin versus cloxacillin in endocarditis due to methicillin-susceptible Staphylococcus spp.: a multicenter propensity weighted cohort study.

PURPOSE: To compare the effectiveness and safety of cefazolin versus cloxacillin for the treatment of infective endocarditis (IE) due to methicillin-sensitive Staphylococci (MSS). METHODS: Data were retrospectively collected on patients treated for a definite MSS endocarditis who received cefazolin or cloxacillin for at least 10 consecutive days in six French hospitals between January-1 2014 and December-31 2020. The primary endpoint was treatment failure defined as a composite of death within 90 days of starting antibiotherapy, or embolic event during antibiotherapy, or relapse of IE within 90 days of stopping antibiotherapy. We used Cox regression adjusted for the inverse probability of treatment weighting of receiving cefazolin. RESULTS: 192 patients were included (median age 67.8 years). IE was caused by S.aureus in 175 (91.1%) and by coagulase-negative staphylococci in 17 (8.9%). Ninety-four patients (48.9%) received cefazolin, and 98 (51%) received cloxacillin. 34 patients (34.7%) with cefazolin and 26 (27.7%) with cloxacillin met the composite primary endpoint, with no significant differences between groups (adjusted HR = 1.13, 95% CI 0.63 to 2.03). There were no significant differences in secondary efficacy endpoints or biological safety events. CONCLUSION: The effectiveness of cefazolin did not significantly differ from cloxacillin for the treatment of MSS endocarditis.

Os trigonum: a discussion of its role in posterior ankle impingement syndrome and a meta-analysis of its prevalence.

PURPOSE: the os trigonum is a supernumerary bone that may lead to posterior ankle impingement syndrome. The present study aims to assess the prevalence of this bone. METHODS: A meta-analysis regarding the presence of the os trigonum was performed. For this, the MEDLINE and SciElo databases were searched using "os trigonum" as the keyword. Only original articles, theses, books, dissertations, and monographs were included. Papers with a sample size of < 50 individuals were excluded. The data extracted from the articles were: the total sample size, the prevalence of the trigonum, the method of analysis, the region of the sample, and data regarding sex and side (left or right). Statistical analysis was performed using MedCalc Statistical Software version 14.8.1 (MedCalc Software bvba, Ostend, Belgium). The heterogeneity between the studies was assessed using the I² estimation and the Cochran Q test. For all analyses, a random effect was used and a value of p < 0.05 was considered significant. RESULTS: 249 papers were found, while 18 were included in the meta-analysis. A total of 17,626 ankles were included. The pooled prevalence of the os trigonum was 10.3% (95% CI 7-14.1%) in the present study. There was no significant difference regarding sex or side, while studies conducted in imaging exams showed a higher prevalence in comparison to cadaveric studies. CONCLUSION: Our results suggest that the os trigonum is relatively common. Knowledge of the prevalence of the os trigonum may help surgeons and clinicians diagnose posterior ankle impingement syndrome.

Mitral re-valve-in-valve as a new perspective for high-risk patients with prosthetic valve dysfunction: case reports.

Background: Mitral valve diseases are a common medical condition, and surgery is the most used therapeutic approach. The need for less invasive interventions led to the development of transcatheter valve implantation in high-risk patients. However, the treatment to the dysfunctions of these prosthetic valves is still uncertain, and the yield and safety of repeated transcatheter valve implantations remain unclear. Cases summary: A 69-year-old Caucasian woman with three previous mitral valve procedures performed due to rheumatic valve disease (currently with a biological prosthetic mitral valve) and a 76-year-old Latin woman with previous liver transplantation (due to metabolic-associated fatty liver disease) and biological mitral prosthesis due to mitral valve prolapse with severe regurgitation underwent mitral valve-in-valve (ViV) transcatheter implantation at the time of dysfunction of their surgical prostheses. Later, these patients developed prosthetic valve dysfunction and clinical worsening, requiring another invasive procedure. Due to maintained high-risk status and unfavourable clinical conditions for surgery, re-valve-in-valve (re-ViV) was performed. Discussion: Valve-in-valve transcatheter mitral valve implantation was approved in 2017, and, since then, it has been used in several countries, mainly in high-risk patients. Nevertheless, these prosthetic valves may complicate with stenosis or regurgitation, demanding reinterventions. Although there are favourable data for mitral ViV, re-ViV still lacks robust data to support its performance, with only case reports in the literature so far. It is possible that in high-risk patients, there is a greater benefit from re-ViV when compared with the surgical strategy. However, this hypothesis must be studied in future controlled trials.

Os Intermetatarseum: A Rare Variation of Great Relevance / Os Intermetatarseum: Una Rara Variación de Gran Relevancia

SUMMARY: The os intermetatarseum is an accessory bone located in the foot, usually between the first 2 metatarsals and the cuneiform bone. It can be presented as free, articulated or in a fused fashion. It is a very unusual variation found in less than 13 % of the population. A 27-year-old patient presented to the emergency service due to an ankle lesion. Physical exam showed pain and limited range of motion while supporting partial load. Radiographic imaging showed a bony trace near the base of the first and second metatarsals, diagnosed as the os intermetatarseum. Formation of this supernumerary bone begins as a separate ossification center. Most cases are asymptomatic; however, compression of the deep peroneal nerve branches by the os intermetatarseum can lead to pain. Some authors suggest that the presence of this bone may cause hallux valgus. The intermetatarseum can lead to diagnostic confusion, mainly related to Lisfranc fracture. Its origin is still little understood.

El os intermetatarseum es un hueso accesorio ubicado en el pie, generalmente entre los 2 primeros metatarsianos y el hueso cuneiforme. Puede presentarse de forma libre, articulada o fusionada. Es una variación muy inusual que se encuentra en menos del 13 % de la población. Paciente de 27 años que acude a urgencias por lesión en tobillo. El examen físico mostró dolor y rango de movimiento limitado mientras soportaba una carga parcial. Las imágenes radiológicas mostraron un rastro óseo cerca de la base del primer y segundo metatarsianos, diagnosticado como os intermetatarseum. La formación de este hueso supernumerario comienza como un centro de osificación separado. La mayoría de los casos son asintomáticos; sin embargo, la compresión de las ramas profundas del nervio fibular en el espacio intermetatarsiano puede provocar dolor. Algunos autores sugieren que la presencia de este hueso puede provocar hallux valgus. El hueso intermetatarsiano puede llevar a confusión diagnóstica, principalmente relacionada con la fractura de Lisfranc. Su origen aún es poco comprendido.

An evidence-based primary health care intervention to address domestic violence against women in Brazil: a mixed method evaluation.

BACKGROUND: Health systems have a critical role in a multi-sectoral response to domestic violence against women (DVAW). However, the evidence on interventions is skewed towards high income countries, and evidence based interventions are not easily transferred to low-and middle-income countries (LMIC) where significant social, cultural and economic differences exist. We evaluated feasibility and acceptability of implementation of an intervention (HERA-Healthcare Responding to Violence and Abuse) to improve the response to DVAW in two primary health care clinics (PHC) in Brazil. METHODS: The study design is a mixed method process and outcome evaluation, based on training attendance records, semi-structured interviews (with 13 Primary Health Care (PHC) providers, two clinic directors and two women who disclosed domestic violence), and identification and referral data from the Brazilian Epidemiological Surveillance System (SINAN). RESULTS: HERA was feasible and acceptable to women and PHC providers, increased providers' readiness to identify DVAW and diversified referrals outside the health system. The training enhanced the confidence and skills of PHC providers to ask directly about violence and respond to women's disclosures using a women centred, gender and human rights perspective. PHC providers felt safe and supported when dealing with DVAW because HERA emphasised clear roles and collective action within the clinical team. A number of challenges affected implementation including: differential managerial support for the Núcleo de Prevenção da Violência (Violence Prevention Nucleus-NPV) relating to the allocation of resources, monitoring progress and giving feedback; a lack of higher level institutional endorsement prioritising DVAW work; staff turnover; a lack of feedback from external support services to PHC clinics regarding DVAW cases; and inconsistent practices regarding documentation of DVAW. CONCLUSION: Training should be accompanied by system-wide institutional change including active (as opposed to passive) management support, allocation of resources to support roles within the NPV, locally adapted protocols and guidelines, monitoring progress and feedback. Communication and coordination with external support services and documentation systems are crucial and need improvement. DVAW should be prioritised within leadership and governance structures, for example, by including DVAW work as a specific commissioning goal.

Comments by Microbiologists for Interpreting Antimicrobial Susceptibility Testing and Improving the Appropriateness of Antibiotic Therapy in Community-Acquired Urinary Tract Infections: A Randomized Double-Blind Digital Case-Vignette Controlled Superiority Trial.

In primary care, urinary tract infections (UTIs) account for the majority of antibiotic prescriptions. Comments from microbiologists on interpreting the antimicrobial susceptibility testing (AST) profile for urinalysis were made to improve the prescription of antibiotics. We aimed to explore the added value of these comments on the quality of antibiotic prescribing by a superior double-blind digital randomized case-vignette trial among French general practitioners (GPs). One case vignette with (intervention) or without (control) a 'comment' after AST was randomly assigned to GPs. Among 815 participating GPs, 64.7% were women, at an average age of 37 years. Most (90.1%) used a computerized decision support system for prescribing antibiotics. Empirical antibiotic therapy was appropriate in 71.9% (95% CI, 68.8-75.0) of the cases, without differences between arms. The overall appropriateness of targeted antibiotic therapy (primary outcome) was not significantly increased when providing 'comments': 83.4% vs. 79.9% (OR = 1.26, 95% CI, 0.86-1.85). With the multivariate analysis, the appropriateness was improved by 2-folds (OR = 2.38, 95% CI, 1.02-6.16) among physicians working in healthcare facilities. Among digital-affine young general practitioners, the adjunction of a 'comment' by a microbiologist to interpret urinalysis in community-acquired UTIs did not improve the overall level of appropriateness of the targeted antibiotic.

Morphological changes in the anterior vaginal wall caused by aging: a scanning electron microscopy study.

INTRODUCTION AND HYPOTHESIS: Collagen is a protein that confers robustness and resilience to several tissues. In the female reproductive system, collagen plays a critical role in maintaining the health and function of the vaginal walls. Aging leads to collagen reduction, which may cause vaginal dryness, irritation, and prolapse. We aim to analyze the structure and profile of collagen in the anterior vaginal wall of healthy pre-menopausal (pre-M) and post-menopausal (post-M) women under a scanning electron microscope (SEM). METHODS: Fragments of the anterior vaginal wall were collected and processed for light and scanning electron microscopy. Histological preparations were performed at first with Weigert's resorcin-fuchsin stain. Decellularized preparations were conducted, and the specimens were placed under an SEM to allow observation of the 3D organization of collagen. RESULTS: Decellularized preparations of the pre-M specimens showed a vaginal wall with an irregular subepithelial layer, organized with ECM projections. The subepithelium evidenced the network of collagen fibrils, which seemed to support the epithelium as a basal layer. In specimens of post-M, a fusion of a network of fibrils from different direction axes was evidenced, with plate formation observed in the subepithelial plane, disfiguring the structural organization of fibrils. CONCLUSIONS: Older specimens showed a remodeling of collagen organization in comparison with younger samples of the anterior vaginal wall.

Osteochondrosis of the medial cuneiform bone as an incidental finding.

INTRODUCTION AND IMPORTANCE: Osteochondrosis is a disease described in several bones of the human body. It is a condition that can lead to pain and antalgic gait, although it can also be asymptomatic. The present work aims to report an incidental finding of osteochondrosis that afflicted the medial cuneiform bone. CASE PRESENTATION: A 6-year-old boy injured his leg in a road traffic accident and there was no evidence of a fracture line on the dorsal-plantar foot radiograph. However, the findings of marginal irregularity and sclerotic areas were considered to be indicative of osteochondrosis. CLINICAL DISCUSSION: Osteochondrosis is a self-limiting condition whose most accepted cause is stress injury. The main examination performed for diagnosis is radiography, in which morphological changes can be identified. The early ossification of the cuneiform bones may be related to the rare incidence of cuneiform osteochondrosis in children. Management of symptoms is the most indicated for this condition while surgical treatment is considered to be unnecessary and potentially harmful to the patient. CONCLUSION: Osteochondrosis of the cuneiforms is a rare entity that can be found accidentally during radiographic investigations. It is a disease that can spontaneously resolve. Anti-inflammatory drugs and activity reduction are commonly prescribed in symptomatic cases.

Postoperative myocardial fibrosis assessment in aortic valvular heart diseases-a cardiovascular magnetic resonance study.

AIMS: Left ventricular remodelling occurs during the chronic course of aortic regurgitation (AR) and aortic stenosis (AS), leading to myocardial hypertrophy and fibrosis. Several studies have shown that extracellular volume fraction (ECV) and indexed extracellular volume (iECV) are important surrogate markers of diffuse myocardial fibrosis (MF). Postoperative data on these cardiovascular magnetic resonance (CMR) extracellular expansion parameters for either AS or AR are scarce. This study aimed to demonstrate the postoperative changes that occur in diffuse MF, and the influence of preoperative MF on the reversal of LV remodelling, in patients with AR or AS. METHODS AND RESULTS: Patients with severe AR or AS and indications for surgery were prospectively enrolled. Patients underwent pre- and postoperative CMR, and ECV and iECV were quantified. Data from 99 patients were analysed (32 with AR and 67 with AS). After surgery, the left ventricle mass index decreased in both groups (AR: 110 vs. 91 g/m2; AS: 86 vs. 68 g/m2, both P < 0.001). The late gadolinium enhancement fraction (AR: preoperative 1.9% vs. postoperative 1.7%, P = 0.575; AS: preoperative 2.4% vs. postoperative 2.4%, P = 0.615) and late gadolinium enhancement mass (AR: preoperative 3.8 g vs. postoperative 2.5 g, P = 0.635; AS: preoperative 3.4 g vs. postoperative 3.5 g, P = 0.575) remained stable in both groups. Preoperative iECV and ECV were greater in the AR group (iECV: 30 mL/m2 vs. 22 mL/m2, P = 0.001; ECV: 28.4% vs. 27.2%, P = 0.048). Indexed extracellular volume decreased after surgery in both groups (AR: 30-26.5 mL/m2, AS: 22-18.2 mL/m2, both P < 0.001); it was still greater in the AR group (AR: 26.5 mL/m2 vs. AS: 18.2 mL/m2, P < 0.001). Postoperative ECV remained stable in the AR group (preoperative 28.4% vs. postoperative 29.9%; P = 0.617) and increased in the AS group (preoperative 27.2% vs. postoperative 28.6%; P = 0.033). CONCLUSION: Patients with both AR or AS presented reduction in iECV after surgery, unfolding the reversible nature of diffuse MF. In contrast to patients with AS, those with AR developed postoperative iECV regression with stable ECV, suggesting a balanced reduction in both intracellular and extracellular myocardial components.

Telephone-based assessment of the fear of falling in older people and factors associated.

This study aimed to validate the telephone-based application of the Falls Efficacy Scale-International (FES-I) for the assessment of the fear of falling in older people, and to investigate, among personal and environmental factors, which ones can explain this fear in this population. Participants answered the FES-I on two randomized occasions, face-to-face and by telephone. Intraclass correlation coefficient (ICC 3,1 ) was used to investigate the levels of agreement between the two occasions. The possible factors associated were sex, age, previous history of falls, family arrangement, practice of physical activity, presence of orthopedic pathologies, use of walking aids, presence of visual impairment, and presence of stairs in the home environment. Linear regression analysis was applied to investigate which of these factors could explain the fear of falling in older people. One hundred twenty-two individuals were included. There was no significant difference in the mean difference obtained between the two applications of the FES-I (1 point; 95% confidence interval, -4 to 6), with a high level of agreement (ICC = 0.88). Sex and presence of orthopedic pathologies explained 14% of the model. The FES-I showed to be a reliable scale to be applied for telephone assessments of fear of falling in older people. In addition, women with orthopedic pathologies are the profile of older people with most afraid of falling.

Aging effects in the extracellular matrix of the clitoris: A scanning electron microscopic analysis.

OBJECTIVE OF THE STUDY: The present work aims to observe the clitoris' extracellular matrix in young and old women with a scanning electron microscope. MATERIALS AND METHODS: After approval of the local research ethics committee, samples of the clitoris body were obtained from cadavers of women between 20 and 40 old (G1) and from cadavers over the age of 60 (G2). The samples were decellularized with NaOH to maintain the extracellular matrix framework, submitted to silver sputter coating, and observed under a scanning electron microscope. RESULTS: The mean age of the cadavers in G1 was 28 years old and 75±6 years old in G2. The groups were composed of 10 cadavers each. It was observed that the collagen was arranged in a disorganized fashion in the samples from the G2 in several regions. There was also a decrease in elastic fibers that anchored the collagen in these samples. The concentration of collagen showed an increase in the older samples in comparison to the G1 samples. Conclusions Female sexual dysfunction is a condition prevalent in a significantly large portion of women and it is more common in elderly women. It is known that the tumescence mechanism requires integrity of the extracellular matrix. The changes observed herein may alter the function of the organ and are similar to observations in studies of men with erectile dysfunction. CONCLUSION: Female sexual dysfunction is a condition prevalent in a significantly large portion of women and it is more common in elderly women. It is known that the tumescence mechanism requires integrity of the extracellular matrix. The changes observed herein may alter the function of the organ and are similar to observations in studies of men with erectile dysfunction. .

Violência sexual contra mulheres por parceiro íntimo e desigualdade de gênero na voz dos profissionais da Atenção Primária à Saúde / Violencia sexual contra las mujeres por parte de la pareja íntima y desigualdad de género en la voz de los profesionales de la Atención Primaria de Salud / Sexual violence against women by intimate partner and gender inequality in the voice of Primary Health Care professionals

É difícil reconhecer o sexo forçado vivido nas relações sexuais no âmbito doméstico como violência. Há também uma imprecisão entre a violência, tal como no sexo forçado, e a desigualdade de gênero, como na aceitação do dever marital. Buscou-se compreender o que profissionais da Atenção Primária pensam sobre essas duas experiências, como interpretam relatos das mulheres e o que fazem sobre isso. Entrevistados, os profissionais dizem que sexo forçado ou sexo sem consentimento explícito são ambos violência, e assim devem ser nomeados. Agindo desse modo, eles pensam esclarecer suas pacientes acerca dos direitos das mulheres. No entanto, no dia a dia, nem todos o fazem e ninguém reconheceu ou nomeou a aceitação do dever marital como desigualdade de gênero. Conclui-se que, se a violência está presente como questão, sua distinção quanto à desigualdade de gênero ainda é um desafio.(AU)

Es difícil reconocer el sexo forzado vivido en las relaciones sexuales en el ámbito doméstico como violencia. Hay también una imprecisión entre la violencia, tal como en el sexo forzado, y la desigualdad de género, como en la aceptación del deber conyugal. Se buscó entender lo que los profesionales de la atención primaria piensan sobre esas dos experiencias, cómo interpretan los relatos de las mujeres y qué hacen sobre eso. Al ser entrevistados, los profesionales decían que el sexo forzado o el sexo sin consentimiento explícito son violencia y deben ser denominados como tal. Actuando así, ellos piensan aclarar a sus pacientes los derechos de las mujeres. Sin embargo, en el cotidiano no todos lo hacen y ninguno reconoció o nombró la aceptación del deber conyugal como desigualdad de género. Se concluyó que la violencia está presente como cuestión y que su distinción con relación a la igualdad de género todavía es un desafío.(AU)

Studies show how difficult it is to recognize what is experienced in sexual relationships within households. There is an inaccuracy between violence as in the forced sex, and gender inequality as in the acceptance of the marital duty. We aimed to understand what health care providers think about these two experiences, how they interpret women's reports and what they do about it. Interviewed, the professionals say that both forced sex and sex with no explicit consent are violence and so they should be named. By doing so, professionals intend to enlighten their patients about women's rights. However, in everyday life not everyone does and no one recognized or named marital duty as gender inequality. We conclude that if violence is present as an issue, its distinction in relation to gender inequality is still a challenge.(AU)

Atenção primária à saúde e os serviços especializados de atendimento a mulheres em situação de violência: expectativas e desencontros na voz dos profissionais / Primary health care and the specialized care services to women in situation of violence: expectations and mismatches in the voice of professionals

Resumo O trabalho em rede tem papel central na assistência a mulheres em situação de violência. Este estudo analisa as diferentes perspectivas desse trabalho para profissionais da Atenção Primária e profissionais de serviços especializados nas áreas de assistência social, assistência jurídica e segurança pública, na cidade de São Paulo, Brasil. Realizaram-se entrevistas semi-estruturadas com 16 profissionais dos serviços especializados e 46 da saúde. Os eixos para a análise temática foram: o que os profissionais sabem e pensam sobre os demais serviços; sua atuação a partir disso; e suas expectativas. Os dados revelaram conhecimento insuficiente sobre os distintos serviços, resultando em dificuldades comunicativas, bem como em encaminhamentos equivocados pautados em idealizações sobre como deveria atuar o outro serviço. Concluímos que cada setor é bastante autônomo e seus serviços partem de seu próprio campo de atuação para definir aquilo que seria melhor para a mulher. O conjunto funciona mais como uma trama de serviços do que como uma rede.

Abstract Networking plays a central role in assisting women in situations of violence. This study analyzes how different the work perspectives are for Primary Care professionals and specialized services professionals in the areas of social and law assistance, and public security in the city of São Paulo, Brazil. Semi-structured interviews were carried out with 16 professionals from specialized services and 46 from the health sector. The axes for a thematic analysis were: what professionals know and think about services other than their own; their performance based on that; and their expectations. The findings revealed insufficient knowledge of the different services, resulting in communication difficulties as well as wrong referrals to other services, based on how other services would ideally work. We concluded that each sector is autonomous and its services start from its own field of action to define what would be best for women. The set works more like a mesh of services than a network.

Análise das trajetórias assistenciais ofertadas às mulheres em situação de violência doméstica de gênero na Atenção Primária à Saúde

Objetivo: analisar a assistência prestada às mulheres em situação de violência doméstica de gênero em serviços de Atenção Primária à Saúde, no município de São Paulo, no Sistema Único de Saúde. Método: A análise se deu a partir de quatro fluxogramas analisadores construídos com base nas informações coletadas em prontuários, como das entrevistadas realizadas com quatro mulheres em situação de violência, e dos 13 profissionais de saúde envolvidos na assistência dessas mulheres, analisados sob a metodologia Análise de Conteúdo. Resultados: As narrativas mostram que as mulheres "desabafam" para os trabalhadores, principalmente para os Agentes Comunitárias de Saúde. A violência é frequente e reconhecida, mas se torna um problema para a equipe de saúde quando há o envolvimento de crianças, ou um pedido de ajuda direto das mulheres. A assistência ofertada se mostra como tentativa dos profissionais de saúde em "consertarem" o problema da violência, com tendência às práticas prescritivas, ofertas genéricas, sem agregar as escolhas e os caminhos considerados possíveis pelas mulheres. Conclusão: Apesar das barreiras, percebe-se a inclusão da rede de enfrentamento e a compreensão da violência como uma barreira para se viver a vida.

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Cornelia de Lange Syndrome (CdLS) are highly expressed in the brain and LCLs. In this context, we first performed RNA sequencing of LCLs from 22 solved (with pathogenic variants) and 19 unsolved (with no confirmed variants) CdLS cases. Next, an RNA sequencing pipeline was developed using solved cases with two different methods: short variant analysis (for single-nucleotide and indel variants) and aberrant splicing detection analysis. Then, 19 unsolved cases were subsequently applied to our pipeline, and four pathogenic variants in NIPBL (one inframe deletion and three intronic variants) were newly identified. Two of three intronic variants were located at Alu elements in deep-intronic regions, creating cryptic exons. RNA sequencing with LCLs was useful for identifying hidden variants in exome-negative cases.

[Reasons and mechanisms for admission of children and adolescents to a psychiatric hospital: the control circuit]. / Motivos e mecanismos de internação de crianças e adolescentes em hospital psiquiátrico: o circuito do controle.

Important strides in psychiatric reform include the implementation of mental health services that replace the traditional psychiatric logic. However, admissions to psychiatric hospitals continue to occur, including children and adolescents. This study analyzed the reasons for admission to a psychiatric hospital from the institution's perspective and that of the hospitalized children and adolescents. This was a qualitative study with a hermeneutic-dialectic approach, based on a reading of the institutional documents, open interviews with eight adolescents, and participant observation. The results showed that the main alleged reason for admission reported by the psychiatric hospital was "aggressiveness", justified by the idea of "risk to self and others", while the children reported multiple reasons for their hospitalization, including drug use, minor scuffles, and misdemeanors. The analysis showed that the mechanism for admission to the psychiatric hospital involve, during anamnesis, defining an individual as deviating from social norms and, subsequently, assignment of a diagnosis to back the psychiatric institutionalization. It also showed that the backing and continuity of psychiatric hospitalizations occur in a circuit of control that is operated between different institutions for the deviants' custody. The study demonstrates that to avoid psychiatric hospitalizations, besides closing psychiatric hospitals, it is necessary to overcome the psychiatric paradigm, which in turn requires deinstitutionalization of practices and psychosocial care in open, community and substitutive mental health services.

Os avanços da reforma psiquiátrica incluem a implantação de serviços de saúde mental substitutivos à lógica asilar. Porém, internações em hospitais psiquiátricos, inclusive de crianças e adolescentes, continuam ocorrendo. Esse estudo buscou compreender os motivos de internação em um hospital psiquiátrico a partir da perspectiva da instituição e das crianças e adolescentes internados. Trata-se de pesquisa qualitativa, de abordagem hermenêutico-dialética, tendo sido feita a leitura de documentos institucionais, entrevistas abertas com oito adolescentes e observação participante. Os resultados indicaram que o motivo principal alegado pelo hospital psiquiátrico para internação foi nomeado como "agressividade", justificada pelo "risco para si e para outros", enquanto, para as crianças e os adolescentes, os motivos de internação eram múltiplos, incluindo uso de drogas, pequenas brigas e infrações. A análise indicou que os mecanismos para a internação pelo hospital psiquiátrico envolvem, durante a anamnese, uma leitura sobre o outro que o define como desviante de normas sociais e a posterior atribuição de um diagnóstico, avalizando a internação psiquiátrica. Também indicou que a sustentação e continuidade de internações psiquiátricas ocorrem em um circuito do controle operado entre diferentes instituições para tutela dos desviantes. Este estudo evidencia que, para evitar internações em hospitais psiquiátricos, além do fechamento destes, é preciso superar o paradigma psiquiátrico, sendo, para isso, necessárias as práticas de desinstitucionalização e na perspectiva da atenção psicossocial nos serviços de saúde mental abertos, territoriais e substitutivos.

Los avances de la reforma psiquiátrica incluyen la implantación de servicios de salud mental substitutivos a la lógica de los asilos, no obstante, los internamientos en hospitales psiquiátricos, incluidos los de niños y adolescentes, continúan ocurriendo. Este estudio buscó comprender los motivos de internamiento en un hospital psiquiátrico, a partir de la perspectiva de la institución, y de los niños y adolescentes internados. Se trata de una investigación cualitativa, de abordaje hermenéutico-dialéctico, habiéndose realizado la lectura de documentos institucionales, entrevistas abiertas con ocho adolescentes y observación participante. Los resultados indicaron que el motivo principal alegado por el hospital psiquiátrico para el internamiento fue denominado "agresividad", justificada por el "riesgo para sí mismos y para otros", mientras que para los niños y adolescentes los motivos de internamiento eran múltiples, incluyendo el uso de drogas, pequeñas peleas e infracciones. El análisis indicó que los mecanismos para el internamiento por el hospital psiquiátrico implican, durante la anamnesis, una lectura sobre lo que lo define como una conducta desviada respecto a normas sociales, y la posterior atribución de un diagnóstico, avalando el internamiento psiquiátrico. También indicó que el mantenimiento y continuidad de los internamientos psiquiátricos se producen en un circuito del control operado entre diferentes instituciones para la tutela de los que desvían de las normas sociales. Este estudio evidencia que, para evitar internamientos en hospitales psiquiátricos, además del cierre de los hospitales psiquiátricos, es necesaria la superación del paradigma psiquiátrico, siendo para eso necesarias prácticas de desinstitucionalización y desde la perspectiva de la atención psicosocial contar con servicios de salud mental abiertos, territoriales y substitutivos.

Supernumerary muscles in the posterior leg compartment: a case report / Músculos supernumerarios en el compartimento posterior de la pierna: reporte de un caso

SUMMARY: The leg muscles are organized in anterior, lateral and posterior compartments. The posterior compartment is usually divided in two layers: superficial and deep. The deep muscles of the posterior compartment of the leg are known to mainly plantar flexion and toes flexion. In comparison to the other leg compartments, variations of the posterior one are rare. These variants often involve the presence or absence of one or more muscles, and they have differences among origin and insertion, which leads to confusion between anatomists. We aim to describe a case of a male cadaver that possessed three supernumerary muscles in the lateral and posterior compartments of both legs: the peroneus quartus muscle and two accessory bellies of the flexor digitorum longus. This presentation seems to be very rare and scarcely reported in the literature. These variants have the potential of causing nervous or vascular compression, thus leading to tarsal tunnel syndrome or a symptomatic peroneus quartus. The clinical and surgical implications of this abnormal presentation is discussed.

RESUMEN: Los músculos de la pierna están organizados en compartimentos anterior, lateral y posterior. El compartimento posterior por lo general es dividido en dos capas: superficial y profunda. Se sabe que los músculos profundos del compartimento posterior de la pierna se caracterizan principalmente por participar de la flexión plantar y la flexión de los dedos de los pies. En comparación con los otros compartimentos de la pierna, las variaciones musculares en el compartimiento posterior son raras. Estas variantes suelen implicar la presencia o ausencia de uno o más músculos y presentan diferencias en el origen y en la inserción, lo que conduce a confusión entre los anatomistas. Nuestro objetivo fue describir el caso de un cadáver masculino que poseía tres músculos supernumerarios en los compartimentos lateral y posterior de ambas piernas: el músculo fibular cuarto y dos vientres accesorios del músculo flexor largo de los dedos. Esta presentación parece ser muy rara y escasamente reportada en la literatura. Estas variantes musculares tienen el potencial de causar compresión nerviosa o vascular, lo que conduce al síndrome del túnel del tarso o un cuarto músculo fibular sintomático. Se discuten las implicaciones clínicas y quirúrgicas de esta presentación anormal.

Are We Asking Too Much of the Health Sector? Exploring the Readiness of Brazilian Primary Healthcare to Respond to Domestic Violence Against Women.

BACKGROUND: There is growing recognition of the health sector's potential role in addressing domestic violence (DV) against women. Although Brazil has a comprehensive policy framework on violence against women (VAW), implementation has been slow and incomplete in primary healthcare (PHC), and little is known about the implementation challenges. This paper aims to assess the readiness of two PHC clinics in urban Brazil to integrate an intervention to strengthen their DV response. METHODS: We conducted 20 semi-structured interviews with health managers and health providers; a document analysis of VAW and DV policies from São Paulo and Brazil; and 2 structured facility observations. Data were analysed using thematic analysis. RESULTS: Findings from our readiness assessment revealed gaps in both current policy and practice needing to be addressed, particularly with regards to governance and leadership, health service organisation and health workforce. DV received less political recognition, being perceived as a lower priority compared to other health issues. Lack of clear guidance from the central and municipal levels emerged as a crucial factor that weakened DV policy implementation both by providers and managers. Furthermore, responses to DV lost visibility, as they were diluted within generic violence responses. The organizational structure of the PHC system in São Paulo, which prioritised the number of consultations and household visits as the main performance indicators, was an additional difficulty in legitimising healthcare providers' time to address DV. Individual-level challenges reported by providers included lack of time and knowledge of how to respond, as well as fears of dealing with DV. CONCLUSION: Assessing readiness is critical because it helps to evaluate what services and infrastructure are already in place, also identifying obstacles that may hinder adaptation and integration of an intervention to strengthen the response to DV before implementation.