Brazilian Patients Research Articles

Missense variant Met119Val in ACTB in a patient with Baraitser-Winter syndrome type 1 and mild intellectual disability.

Here we report on a Brazilian female patient with striking dysmorphic craniofacial features of the Baraitser-Winter syndrome (BRWS), including coarse face with prominent metopic ridge, highly arched eyebrows, ocular hypertelorism, ptosis, long palpebral fissures, broad nasal tip, long philtrum, full cheeks, cleft lip and palate, and low-set ears with abnormal lobe. Other clinical signs included partial agenesis of the corpus callosum, asymptomatic pineal cyst, oligodontia, cervical cystic hygroma, pterygium colli, axillary pterygium, duplicated left hallux and seizures. Sanger sequencing of the ACTB gene showed a heterozygous missense variation NM_001101.5 (ACTB):c.355A>G (p.Met119Val). This variant is located very close to the ACTB variant Thr120Ile, which results in the severe BRWS phenotype with severe intellectual disability and absence of speech, firstly described as Fryns-Aftimos syndrome. Despite this, our patient had mild developmental delay, without impairment of speech, and with moderated learning difficulties.

Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19

Inborn errors of immunity (IEI) encompass a broad range of disorders with heterogeneous clinical presentations, often leading to challenges in early diagnosis. This study presents a case of a Brazilian patient with a T-B+NK- severe combined immunodeficiency (SCID) diagnosed at the age of 6 months when was admitted to the hospital due to multiple infectious diseases. Despite undergoing hematopoietic stem cell transplantation (HSCT), the patient had recurrent infections, requiring constant hospital care, including IgG infusions and several antibiotic treatments for the following months. One year after HSCT, presenting mixed chimerism, the patient tested positive for SARS-CoV-2 in nasopharyngeal, duodenum, and intestine samples, with persistent positive tests over a six-month period. Whole exome sequencing identified a private homozygous missense variant (c.1202T>C; p.Leu401Pro) in the Janus Kinase 3 (JAK3) gene. This substitution is located in a highly conserved position, and different bioinformatic variant effect predictors classified the variant as damaging. In silico structural analysis suggested that the variant led to increased structural instability, disrupting the hydrophobic interactions within the SH2 domain, thereby influencing the neighboring residues and potentially altering the interaction between JAK3 and gamma chain (γc) intracellular receptors. This study provides evidence for the novel pathogenicity classification of the variant and highlights the importance of the JAK3 and SH2 domain modulating protein function and their contribution to the SCID pathogenesis.

Genomic and Phenotypic Variations Among Thai-53 and Mycobacterium leprae Clinical Isolates: Implications for Leprosy Pathogenesis and Research

Throughout Mycobacterium leprae’s (M. leprae) evolutionary trajectory, nearly half of its genome was converted into pseudogenes. Despite this drastic reduction in genetic content, the genome sequence identity among M. leprae isolates worldwide is remarkably high compared to other pathogens. In this study, we investigated the genotype and morphotype of three M. leprae strains: the reference strain Thai-53 (genotype 1A), and two clinical isolates from Brazilian leprosy relapse patients, which were Br014-03 (genotypes 3I) and Br014-01(4N). We compared their genome sequences and their interaction with human Schwann cells from the ST88-14 lineage and with human primary macrophages. On the genetic level, we observed over a hundred missense mutations in the three strains, translated into significant phenotypic changes such as: prolonged doubling time, altered cytokine induction, reduced interaction rates, and decreased intracellular viability in Schwann cells. Our findings underscore the concept that despite their 99.992% identity, even small genomic disparities in M. leprae genomes can elicit substantial alterations in bacilli interaction with host cells and subsequent immune responses. Consequently, our data could lead to better comprehension of correlation between pathogen mutations and the diverse clinical manifestations observed in leprosy patients.

TMOD-10. ESTABLISHMENT OF ADULT AND PEDIATRIC BRAZILIAN PRE-CLINICAL MODELS FOR HIGH-GRADE GLIOMAS

Abstract High-grade gliomas (HGG) are the most aggressive brain tumors, necessitating robust and representative preclinical models for therapeutic research. We established primary cultures and patient-derived xenograft models from three pediatric high-grade gliomas (pHGG) and one adult IDH wild-type glioblastoma (GBM IDHwt) Brazilian patients. The first pHGG case, from an 11-year-old with PDGFRA (c.1977C>G) and TP53 (c.637C>T) mutations, led to the development of the HCB570 primary culture, PDX and patient-derived orthotopic xenograft (PDOX) OXP9. The second pHGG, from an 11-year-old with CMMRD syndrome and MSH6 germline mutation, resulted in the HCB589 primary culture, PDX and PDOX OXP22. The third pHGG case, from a 14-year-old with diffuse midline glioma harboring an H3F3A mutation, established the HCB604 primary culture and PDX OXP32. The HCB612 primary culture and PDX GBM1, were established from an adult patient with GBM IDHwt, TERT mutated, with no MGMT promoter methylated. The primary cultures showed varied proliferative rates, with an average doubling time of 55 hours. All cultures demonstrated colony-formating capability, with an average IC50 of 750µM for temozolomide (TMZ) exposure. Immunohistochemical and EPIC methylation profiles confirmed that the PDX models closely resemble the patient features. Our establishment of diverse preclinical models, including those derived from patients with rare genetic conditions such as CMMRD, provides valuable insights into HGG pathogenesis and potential therapeutic strategies. The present Brazilian patient-derived models enrich glioma research inclusion diversity and foster future personalized treatment approaches.

EXTH-20. EXPLORING EUPHOL’S THERAPEUTIC EFFECT IN ADULT AND PEDIATRIC BRAZILIAN HIGH-GRADE GLIOMAS PRE-CLINICAL MODELS

Abstract High grade gliomas (HGG) are among the most aggressive brain tumors affecting both adults and children. Adult HGG (aHGG) account for almost 25% of all brain tumors in adults, with glioblastoma (GBM) being the predominant subtype. Pediatric HGG (pHGG), though less common, accounts for 3-15% of primary brain tumors in children and exhibits distinct genetic profiles compared to aHGG. Standard treatment for HGG in both adults and pediatric patients includes maximal surgical resection followed by temozolomide (TMZ)-based chemotherapy and radiation therapy. Our group previously reported that euphol, a natural compound derived from the sap of Euphorbiaceae family plants, exerts cytotoxicity effects on glioma cells. In this study, we investigated the therapeutic potential of euphol in primary cell cultures and xenograft models derived from six Brazilian HGG patients, including three adults and three pediatrics. In vitro, euphol exposure significantly reduced cell viability reduction, clonogenic capacity, and migration, while enhancing apoptosis in all six primary cultures. Additionally, euphol sensitized glioma cells to TMZ, resulting in a synergistic cytotoxic effect. In vivo, euphol reduced tumor growth in both GBM and pHGG models, and prolonged the survival of mice in the GBM orthotopic experiment. These findings highlight the promising therapeutic potential of euphol for treating high-grade gliomas in both adult and pediatric populations.

Imported Cutaneous Leishmaniasis from Peru Caused by Leishmania (Viannia) guyanensis in a Brazilian Patient: Case Report and In Vitro Drug Susceptibility Analysis

In South America, cutaneous leishmaniasis is caused by several species of the parasite of the genus Leishmania. Here, we describe an imported case of cutaneous leishmaniasis acquired in Peru by a Brazilian patient during her travel to Iquitos. Infection by Leishmania parasites was confirmed by histopathologic examination, and the patient was treated with pentavalent antimony (Pentostam), without clinical response. Molecular typing was performed by sequencing the ribosomal DNA internal transcribed spacer and heat-shock protein 70 gene, which identified the parasites as Leishmania guyanensis. The clinical isolate was similarly susceptible to amphotericin B, pentamidine, and miltefosine as the reference strain, while for pentavalent antimony, this clinical isolate was more susceptible than the reference strain, even though its susceptibility in vitro was still considered low. The patient was then treated with liposomal amphotericin B, with clinical improvement of the lesions.

Double port-a-cath implantation: initial experience in Brazil and technical note tips and tricks: a series report

BackgroundThis study was designed to evaluate the clinical benefit of double-lumen port catheters in patients receiving chemotherapy and parenteral nutrition concurrently or in those with vascular access failure. The advantages, complications, indications and duration of use of double port-a-cath were considered.MethodsThirteen Brazilian patients received a double-lumen port catheter that was implanted under ultrasonographic and fluoroscopic guidance in the radiologic interventional suite.ResultsAll double-lumen port systems were successfully implanted in all patients without immediate complications. The port-a-cath was removed in two patients due to infection of the reservoir. Three deaths occurred due to underlying disease with no correlation to the port-a-cath. No temporal interference between the administration of chemotherapy and parenteral nutrition was observed.ConclusionThe double-door approach is a safe technique with low complication rates. Indications for use of the dual port are numerous and should be encouraged because of the considerable benefits for critically ill patients.

Association between KRAS mutation and alcohol consumption in Brazilian patients with colorectal cancer

Colorectal cancer (CRC) is a leading cause of morbidity and mortality worldwide. Detection before metastasis and efficient treatment of disease significantly improve patient survival and quality of life. However, limitations in diagnosis and postoperative surveillance are associated with low CRC detection and survival rates. Thus, this project aimed to evaluate the molecular profile of patients diagnosed with CRC, as molecular biomarkers constitute a new frontier for diagnosis, treatment and prognosis. Methods and Results: 42 patients were included in the study, predominantly male (59.5%), with a median age of 63 years (SD: 10.0; min: 41; max: 83). The majority of primary tumors were located in the rectum (38.1%), in the sigmoid (33.3%) and in the ascending (21.4%) colon. We evaluated the genes KRAS, NRAS, BRAF, EGFR and TP53 using Sanger sequencing. Somatic and germline mutations were found in the KRAS, EGFR and TP53 genes, with the most common somatic alteration being rs121913529 in KRAS. This variant was also strongly associated with alcoholism (p = 0.002). Furthermore, patients with somatic mutations in TP53 had significantly higher mortality compared to those with wild-type alleles (OR: 11.2; 95% CI 1.25–2.45). Conclusions: Our findings support a relationship between alcohol consumption and the rs121913529 mutation, which is classified as pathogenic for colorectal cancer. Thus, further studies investigating the link between alcohol consumption, colorectal carcinogenesis and tumor progression ought to be conducted.

Unmet needs in the management of hereditary angioedema from the perspective of Brazilian patients

IntroductionHereditary angioedema (HAE) is a rare genetic disease characterized by recurrent, potentially life-threatening angioedema episodes. Despite its severity, including the risk of asphyxiation, HAE often remains underdiagnosed. The disease significantly impacts patient quality of life (QoL), leading to anxiety, depression, and avoidance behaviors due to the unpredictable nature of attacks. Understanding the perspectives of patients is crucial for identifying unmet needs in managing this complex condition. ObjectiveThis study aimed to gather real-world insights from Brazilian patients with C1 inhibitor deficiency HAE to identify their unmet needs and assess their perceptions of the effectiveness of current care in preventing and treating HAE attacks. MethodsA cross-sectional study utilized a SurveyMonkey questionnaire distributed to HAE patients through ABRANGHE via email. Participants provided informed consent, and their responses were anonymous. The questionnaire, developed with input from experts and patients, covered aspects of HAE diagnosis, treatment experiences, and QoL assessments. ResultsThe survey included 178 HAE patients, predominantly female (81%), aged 30–50 years (58%), and college-educated (62%). The most common HAE defect was C1–INH deficiency (53%), followed by HAE-nC1INH (23%), with nearly a quarter unaware of their specific defect. Diagnosis delays were prevalent, with a significant number reporting 13–50 attacks annually (33%) and 15% experiencing more than 50 attacks per year. Laryngeal involvement was reported by 26% of respondents. Most patients (69%) attended regular follow-ups, with 72% on prophylactic treatment and 67% managing acute attacks. The most used acute treatment was Icatibant (49%), followed by pdC1INH (24%). However, confusion regarding medication use persisted, with 45% incorrectly believing that oral medications could effectively treat attacks. Key unmet needs identified included improved access to emergency rooms during attacks (73%), better availability of prophylactic treatment (69%), and enhanced access to specialized care (63%). Patients also emphasized the need for psychological support, increased awareness of HAE, and educational initiatives for patients and healthcare providers. DiscussionThis study highlighted significant challenges in HAE management among Brazilian patients, particularly concerning delayed diagnosis, misconceptions about treatment, and inadequate access to specialized care and prophylactic treatments. The high frequency of emergency room visits underscores the difficulties in managing the disease. The substantial burden of HAE on QoL emphasizes the urgent need for improved physician education, streamlined diagnostic processes, and equitable access to effective medications and specialized care facilities. Addressing these gaps is crucial to better support HAE patients, improve diagnostic timeliness, enhance treatment efficacy, and ultimately enhance the overall quality of life for individuals living with HAE.

Clinical and laboratorial profile of patients with ATTR cardiomyopathy: comparison between wild type and p.Val142Ile forms in the Brazilian population

Abstract Background In Brazil, besides the wild type (wt) form, transthyretin amyloid cardiomyopathy (ATTR-CM) is predominantly caused by hereditary form with Val142Ile mutation. Considering that both forms occur in elderly people, the clinical presentation may be similar. We sought to compare the clinical presentation of patients with wt and Val142Ile mutation in a Brazilian cohort of ATTR-CM patients. Methods Among the 642 patients enrolled in REACT/SP, 283 presented ATTR-CM, being 85 wt and 90 Val142Ile patients. We compared the main clinical characteristics between groups. Results The wt in comparison to Val142Ile patients, respectively, presented: older age (78.4+/-8.5 vs 74.2+/-8.1 y.o., p = 0.0009); similar proportion of males (82% vs 81%, p=0.85); lower proportion of blacks (11% vs 39%, p=0.0001); similar prevalence of heart failure (HF) symptoms (85% vs 79%, p=0.33); higher prevalence of syncope (13% vs 2%, p=0.008) and Pacemakers (PM) implantation (8% vs 1%, p=0.027); similar prevalence of neuropathy manifestations (38% vs 51%, p=0.17); lower creatinine (1.5+/-0.8 vs 2.1+/-2.1 mg/dL, p=0.02) and NT-ProBNP levels (2860.0+/-2843.3 vs. 5488.3+/-5455.6 pg/ml, p=0.0001); reduced interventricular septal thickness (15.6+/-3.3 vs 17.0+/-3.3 mm, p= 0.006), posterior left ventricular (LV) posterior wall thickness (14.2+/-2.4 vs 16.2+/-4.4 mm, p=0.0003), higher LV ejection fraction (52.0+/-10.1 vs 48.2+/-13.6%, p=0.038), higher global LV longitudinal strain (8.6+/-8.7 vs 3.4+/-9.8, p=0.0003), smaller LV diastolic diameter (45.9+/-6.1 vs 43.0+/-7.3 mm, p=0.005) at 2D-Echocardiogram. Conclusions In the Brazilian population wt and Val142Ile patients had similar clinical presentation regarding HF and neuropathy symptoms, but higher prevalence of syncope and PM in wt patients. Conversely, Val142Ile patients presented more severe amyloid cardiac infiltration.

Recent cardiac rehabilitation and its impact on cardiopulmonary exercise test variables in Brazilian cardiac transplant recipients

Abstract Introduction Heart transplantation (HTx) is an option for restoring the functional capacity of individuals with end-stage heart failure (HF). Cardiac rehabilitation (CR) plays an important role in improving variables related to cardiopulmonary exercise testing (CPET) in post-HTx patients. Purpose To evaluate whether CR is effective in improving CPET variables in Brazilian patients post-recent HTx compared to a Control Group (CG). Methods Retrospective comparative study composed of two groups: CR group (CRG) and CG. These recent HTx patients (aged 14 to 73 years) initiated CR within 150 days and were recruited from an HTx outpatient clinic at a south Brazilian public university hospital between 2014 and 2023. CPET was performed at three different times: pre-HTx (Time 01), post-recent HTx (Time 02), and post-CR or post-follow-up for CG (Time 03). This study was approved by the Institutional Review Board (protocol No. 20180651). Statistical analysis used Generalized Estimating Equations with alpha ≤ 0.05, and the mean difference (MD) data were presented along with 95% confidence interval (CI). Results CRG (n=18) had a mean age of 47.3±15.6 years and CG (n=11) 48.6±12.5 years (P=0.81). The mean time to start CRG was 62.2±9.6 days (minimum: 21; maximum: 147). There was an interaction for the Group*Time factor for the following CPET variables: VO2peak (P=0.039); VEmax (P=0.009); VO2 on second ventilatory threshold (P<0.001); HR on VT2 (P=0.030) and T½ (P=0.002). The main results are summarized in Table 1. We highlight that there was a difference in the comparison between groups at Time 03 for the variable VO2peak: MD: 5.16 ± 1.95 (95% CI: 1.3 to 9.0; P = 0.008), favorable to CRG. Conclusion Early CR after very recent HTx significantly increase peak VO2peak, VEmax, T½ and VO2 and HR at the VT2 compared to the control group (CG).

Development and Evaluation of a Convolutional Neural Network for Microscopic Diagnosis Between Pleomorphic Adenoma and Carcinoma Ex-Pleomorphic Adenoma.

To develop a model capable of distinguishing carcinoma ex-pleomorphic adenoma from pleomorphic adenoma using a convolutional neural network architecture. A cohort of 83 Brazilian patients, divided into carcinoma ex-pleomorphic adenoma (n = 42) and pleomorphic adenoma (n = 41), was used for training a convolutional neural network. The whole-slide images were annotated and fragmented into 743 869 (carcinoma ex-pleomorphic adenomas) and 211 714 (pleomorphic adenomas) patches, measuring 224 × 224 pixels. Training (80%), validation (10%), and test (10%) subsets were established. The Residual Neural Network (ResNet)-50 was chosen for its recognition and classification capabilities. The training and validation graphs, and parameters derived from the confusion matrix, were evaluated. The loss curve recorded 0.63, and the accuracy reached 0.93. Evaluated parameters included specificity (0.88), sensitivity (0.94), precision (0.96), F1 score (0.95), and area under the curve (0.97). The study underscores the potential of ResNet-50 in the microscopic diagnosis of carcinoma ex-pleomorphic adenoma. The developed model demonstrated strong learning potential, but exhibited partial limitations in generalization, as indicated by the validation curve. In summary, the study established a promising baseline despite limitations in model generalization. This indicates the need to refine methodologies, investigate new models, incorporate larger datasets, and encourage inter-institutional collaboration for comprehensive studies in salivary gland tumors.

Association of Fusobacterium nucleatum Levels by ddPCR in Oral Rinse Samples With Periodontal Disease in Oral Squamous Cell Carcinoma Patients and in Controls.

The role of microbiome, particularly Fusobacterium nucleatum (Fn), in periodontal disease and oral squamous cell carcinoma (OSCC) has been recently explored. This study aimed to evaluate the Fn presence and its levels in oral rinse samples from Brazilian OSCC patients and healthy individuals and its association with sociodemographic, clinical, and oral health features. In this case-control study, 80 participants were included, 31 OSCC patients and 49 individuals without a cancer history. Clinical data were collected, and an oral exam was done on a subset of the cohort. Fn levels were evaluated by droplet digital PCR (ddPCR) in oral rinse samples and were categorized as Fn-high or Fn-low based on the median number of copies per reaction. OSCC patients showed higher levels of Fn (68%, p = 0.03) than controls, and all OSCC cases were diagnosed with periodontal disease (100%, p = 1.0). In the univariate analysis, Fn-high level was more frequently present in OSCC cases compared to controls (p = 0.01). It was also observed that Fn-high level OSCC cases were significantly associated with self-reported non-white ethnicity (71.4%, p = 0.01) and had more infiltrative lesions (57.1%, p = 0.02) than Fn-low OSCC cases. Fn-high levels in oral rinse samples, were significantly more prevalent among OSCC than in controls. In OSCC patients, Fn-high levels were associated with non-white ethnicity and lesions with infiltrative clinical aspects. Among OSCC cases, all had periodontal disease.

Measurement properties of the Brazilian-Portuguese version of the PROMIS-29 questionnaire and the Impact Score in patients with chronic low back pain

BackgroundA task force from the US National Institute of Health aimed to establish parameters for surveys with patients with chronic low back pain (LBP) by recommending the use of the Patient-Reported Outcome Measurement Information System 29-item (PROMIS-29) questionnaire and the stratification according to the Impact Score. We aimed to assess the internal consistency, reliability, measurement error, construct validity and responsiveness of the Brazilian-Portuguese version of the PROMIS-29 questionnaire (version 2.1) and the Impact Score in patients with chronic LBP.MethodsA prospective cohort study was carried out with patients with chronic LBP who were receiving physiotherapy treatment in clinics in São Paulo and Vitória cities, Brazil. The sample included 102 patients with chronic LBP, aged between 18 and 80 years, and with the ability to read and write in the Brazilian-Portuguese language. Exclusion criteria were patients with serious spinal conditions, cognitive impairment, pregnant women, and patients who had undergone lumbar surgery within the past six months. The PROMIS-29 questionnaire, the 12-item Short-Form Health Survey and the Roland-Morris Disability Questionnaire were applied. The PROMIS-29 questionnaire was reapplied after 24 hours and 4 weeks.ResultsThe PROMIS-29 questionnaire showed Cronbach’s Alpha values between 0.81 (anxiety) and 0.91 (depression). The ICC2.1 ranged from 0.85 (95% CI: 0.77 to 0.89) to 0,97 (CI 95%: 0.95 to 0.98). The SEM values ranged between 0.85 (physical function) and 2.62 (ability to participate in social roles and activities). The Impact Score showed Cronbach’s Alpha, ICC2.1 and SEM values of 0.91, 0.97 (95% CI: 0.95 to 0.98) and 0.56, respectively. The PROMIS-29 questionnaire and the Impact Score showed sufficient construct validity. The PROMIS-29 questionnaire showed moderate responsiveness, while the Impact Score showed sufficient responsiveness.ConclusionsBoth the Brazilian-Portuguese version of the PROMIS-29 questionnaire and the Impact Score showed sufficient internal consistency, reliability, construct validity and responsiveness in Brazilian patients with chronic LBP. The results support the US National Institutes of Health’s recommendation to use the PROMIS-29 questionnaire and the Impact Score in patients with chronic LBP. We suggest that future studies evaluate the structural validity of the Brazilian-Portuguese version of the PROMIS-29 questionnaire.Clinical trial numberNot applicable.

P1.03C.01 A Landscape of the Driver Alterations in 920 Brazilian Lung Cancer Patients

P1.03C.01 A Landscape of the Driver Alterations in 920 Brazilian Lung Cancer Patients

Novel SERPINC1 Mutation in a Brazilian Patient with Sudden-onset Sagittal Sinus Thrombosis Caused by Congenital Antithrombin Deficiency

A 19-year-old Brazilian man visited the emergency department of our hospital complaining of nausea and fever. He presented with left hemispatial neglect. Magnetic resonance imaging led to a diagnosis of sagittal sinus thrombosis. Blood tests showed decreased antithrombin (ATIII) activity, and ATIII deficiency was diagnosed. He was treated with heparin sodium and warfarin. Genetic counseling through medical interpreters was recommended, and the patient and his mother consented to genetic testing, which revealed a novel mutation variant of the SERPINC1 gene. Genetic counseling is important to connect patients to genetic testing, even if language barriers are present.

Rheumatic fever and long-term use of benzathine penicillin as possible risk factors for extensive macular atrophy with pseudodrusen in a Brazilian cohort

BackgroundAlthough there has been a large increase in the number of extensive macular atrophy with pseudodrusen (EMAP) cases, the basic aspects of this disease remain unknown. Brazilian patients have a common past history of rheumatic fever (RF) and/or benzathine penicillin (BP) treatment possibly related to the disease. We analyzed how RF and BP might be correlated with EMAP in Brazilian patients.DesignObservational, retrospective, case-control study.MethodsThe databases of three private eye clinics in Brazil were searched for patients with an EMAP-like appearance. Each patient was asked about a previous history of RF and/or long-term use of BP. Patients underwent best-corrected visual acuity (BCVA) measurement, color fundus imaging, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT) imaging, and electroretinography (ERG). The following characteristics were analyzed: subretinal drusenoid deposits (SDD), pigment mottling, retinal pigment epithelial/basement membrane (RPE/BM) separation, outer retinal or RPE atrophy, and identification of a paving stone-like appearance. The choroidal thickness was measured using enhanced depth imaging OCT. The central atrophic area was measured manually on ultra-wide-field FAF.ResultsA total of 154 eyes of 77 patients (women, 66.2%; mean age, 58.6 years) with EMAP were included; 90.9% of patients were diagnosed with RF; 94.8% had been treated with BP and treatment was started at an average age of 7.3 years (mean duration, 11.8 years). The treatment duration was significant for the area of atrophy (P = 0.027) in which each 1-year increase in treatment duration led to an average reduction of 6.91 mm2 in area. The age at diagnosis of RF was significant (P = 0.026) for SDD. The increase of 1 year in the diagnosis of RF (late disease) led to a reduction of 24% in the chance of central SDD being present. On OCT, 65.5% eyes had SDD and more than 70% had a split RPE/BM and outer retinal or RPE atrophy. The choroidal thickness in patients with EMAP was significantly (P < 0.001) thinner than the control group. The ERG was abnormal in all eyes.ConclusionThese findings may suggest a relation between RF and EMAP in Brazilian patients. Patients with EMAP should be questioned about a history of RF.

Patients with anti-small ubiquitin-like modifier activating enzyme-positive dermatomyositis resembling antisynthetase syndrome with poor prognosis: a bicentric international retrospective study and literature review.

This study aimed to describe adult Brazilian and Japanese patients with anti-small ubiquitin-like modifier activating enzyme (SEA)-positive dermatomyositis (DM), as there are few studies in the literature. A literature review was also conducted. This bicentric international retrospective study, conducted between 2012 and 2023, included patients with anti-SAE-positive DM (2017 European League Against Rheumatism/American College of Rheumatology classification criteria). All demographic features and clinical, laboratory, therapeutic, and follow-up data were collected from Brazilian and Japanese centers using pre-standardized and parameterized information. We included 17 adult patients with a median age of 65 (56-76) and a predominance of females (82.4%). Constitutional symptoms at baseline were present in 58.8% of the patients. In addition to classical cutaneous DM lesions, one-third of the patients had myalgia and significant muscle weakness, whereas half presented with dysphagia, interstitial lung disease, and joint manifestations. The first-line treatment consisted of intravenous methylprednisolone and immunoglobulin pulse therapy in 41.2% and 28.6% of the patients, respectively. The median follow-up duration was 20 (13-74) months; at the last medical evaluation, half had active disease and were still using oral glucocorticoids (median dosage, 10.0 mg/day). Approximately one-fifth to one-third of the patients were diagnosed with different types of cancer, had severe infections, or died. Patients with anti-SAE-positive DM not only resemble the phenotype of antisynthetase syndrome but are also associated with a poor prognosis.

MEDICINA FETAL: O AVANÇO QUE LEVOU À CIRURGIA INTRAUTERINA

Objective: To discuss the evolution of fetal medicine with an emphasis on current aspects of fetal surgical therapy. Methodology: An integrative literature review was carried out, using relevant articles found in the databases: Lilacs, PubMed, Scholar Google and Scielo. Studies whose full text was not available for free were excluded. Bibliographical Review: Fetal surgery has gained ground as a therapeutic possibility for various congenital pathologies. Through it, diagnoses that were previously considered lethal or seriously damaging are now treatable. However, its techniques are still constantly improving, and its indications are specific and reserved. It is up to the care team to carry out the timely diagnosis of anomalies, as well as to identify the conditions capable of fetal correction in order to guarantee the adequate physiological development of the fetus through early surgical intervention. Final Considerations: Fetal surgery was a milestone in the treatment of serious congenital pathologies, by enabling intrauterine antenatal treatment. Its advances make it possible to treat more and more pathologies, with a progressive reduction in risks. However, this is not yet an available treatment option for the vast majority of Brazilian patients, as its implementation is limited to a few specialized professionals from large centers.

MEDICINA FETAL: O AVANÇO QUE LEVOU À CIRURGIA INTRAUTERINA

Objective: To discuss the evolution of fetal medicine with an emphasis on current aspects of fetal surgical therapy. Methodology: An integrative literature review was carried out, using relevant articles found in the databases: Lilacs, PubMed, Scholar Google and Scielo. Studies whose full text was not available for free were excluded. Bibliographical Review: Fetal surgery has gained ground as a therapeutic possibility for various congenital pathologies. Through it, diagnoses that were previously considered lethal or seriously damaging are now treatable. However, its techniques are still constantly improving, and its indications are specific and reserved. It is up to the care team to carry out the timely diagnosis of anomalies, as well as to identify the conditions capable of fetal correction in order to guarantee the adequate physiological development of the fetus through early surgical intervention. Final Considerations: Fetal surgery was a milestone in the treatment of serious congenital pathologies, by enabling intrauterine antenatal treatment. Its advances make it possible to treat more and more pathologies, with a progressive reduction in risks. However, this is not yet an available treatment option for the vast majority of Brazilian patients, as its implementation is limited to a few specialized professionals from large centers.