Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.

hESC- and hiPSC-derived Schwann cells are molecularly comparable and functionally equivalent.

Establishing robust models of human myelinating Schwann cells is critical for studying peripheral nerve injury and disease. Stem cell differentiation has emerged as a key human cell model and disease motivating development of Schwann cell differentiation protocols. Human embryonic stem cells (hESCs) are considered the ideal pluripotent cell but ethical concerns regarding their use have propelled the popularity of human induced pluripotent stem cells (hiPSCs). Given that the equivalence of hESCs and hiPSCs remains controversial, we sought to compare the molecular and functional equivalence of hESC- and hiPSC-derived Schwann cells generated with our previously reported protocol. We identified only modest transcriptome differences by RNA sequencing and insignificant proteome differences by antibody array. Additionally, both cell types comparably improved nerve regeneration and function in a chronic denervation and regeneration animal model. Our findings demonstrate that Schwann cells derived from hESCs and hiPSCs with our protocol are molecularly comparable and functionally equivalent.

Transradial access embolization of carotid-cavernous fistulae: Case report.

Carotid-Cavernous sinus fistula (CCF) represents a misdiagnosed condition with potential repercussion in functional, neurological, and social roles of patients with this disease. Earlier reports remark on the efficiency and safety of endovascular therapy with resolution of the symptoms were performed appropriately. We present a case of a male patient from a developing country, with gunshot wound head trauma history and short-term progressive functional and neurological impairment in the presence of intracranial hypertension and ocular symptoms who developed a large CFF, subsequently treated by transradial access embolization. We aim to describe the real-world experience in diagnosis and treatment of CCFs, emphasizing on the scope and outcomes of the endovascular treatment. This case supports worldwide experience, positioning endovascular therapy as an effective strategy in the resolution of CFFs, and the relevance of suspecting this disease in the presence of typical symptoms, even if they are rapidly progressive.

Quantitative changes in the corneal endothelium and central corneal thickness during anterior chamber inflammation: A systematic review and meta-analysis.

PURPOSE: To establish the effects of anterior chamber inflammation (ACI) on the corneal endothelium parameters and central corneal thickness (CCT). METHODS: We conducted a comprehensive literature review using medical databases (PubMed, EMBASE, VHL, and medRxiv) on March 8, 2023, for studies that included patients with ACI who had undergone specular microscopy or pachymetry. Case series with >10 patients, cross-sectional, case-control, and cohort studies were included. The risk of bias was assessed using CLARITY tools and validated scales such as those by Hassan Murad et al. and Hoy et al. A narrative synthesis and a quantitative standardized mean difference meta-analysis, I2 heterogeneity assessment, and publication bias tests were conducted. The study was registered in PROSPERO (CRD42023420148) and approved by the Universidad del Rosario ethical committee (DVO005 2277- CV1712). RESULTS: Thirty-four studies, encompassing 1,388 eyes with ACI, were included. Compared with healthy controls, overall, ACI eyes show significant mean differences in endothelial parameters (endothelial cell density (ECD), coefficient of variation (CV), and hexagonality (HEX)) (P < 0.05). In the subgroup analysis compared with healthy controls, both active and chronic-recurrent ACI demonstrated a reduced ECD. An increased CV was observed in active, inactive, and chronic-recurrent ACI. Lower HEX was evident in inactive, acute, and chronic-recurrent ACI, while both active and acute ACI exhibited high CCT. CONCLUSION: ACI leads to significant alterations in endothelial parameters and CCT. The primary contributors to these changes are increased IOP, uveitis duration, and intraocular surgeries. Further studies are needed to explore the impact of ACI etiology on the endothelium, potential biases in IOP measurements during acute ACI episodes, and the potential necessity for monitoring the endothelial parameters and CCT in patients with chronic ACI.

New approaches to recovery after stroke.

After a stroke, several mechanisms of neural plasticity can be activated, which may lead to significant recovery. Rehabilitation therapies aim to restore surviving tissue over time and reorganize neural connections. With more patients surviving stroke with varying degrees of neurological impairment, new technologies have emerged as a promising option for better functional outcomes. This review explores restorative therapies based on brain-computer interfaces, robot-assisted and virtual reality, brain stimulation, and cell therapies. Brain-computer interfaces allow for the translation of brain signals into motor patterns. Robot-assisted and virtual reality therapies provide interactive interfaces that simulate real-life situations and physical support to compensate for lost motor function. Brain stimulation can modify the electrical activity of neurons in the affected cortex. Cell therapy may promote regeneration in damaged brain tissue. Taken together, these new approaches could substantially benefit specific deficits such as arm-motor control and cognitive impairment after stroke, and even the chronic phase of recovery, where traditional rehabilitation methods may be limited, and the window for repair is narrow.

Vitamin D deficiency and non-infectious uveitis: A systematic review and Meta-analysis.

BACKGROUND: Vitamin D plays a critical role in immunomodulation, and its deficiency is implicated in the pathogenesis of several autoimmune diseases. Nevertheless, its relationship with non-infectious uveitis (NIU), an inflammatory ocular disorder, remains inconclusive. METHODS: A systematic search was conducted in three databases from database inception until May 8, 2023, to investigate the potential relationship between vitamin D deficiency and NIU. We included observational studies reporting the measurement of vitamin D levels in patients with NIU and healthy controls without restriction of language or date of publication. Three pairs of authors independently screened the title and abstracts for potential eligibility and then in full text. A third author resolved disagreements. Three pairs of independent reviewers abstracted the data from the fully reviewed records and evaluated the risk of bias. We followed The MOOSE and PRISMA guidelines. Random effects meta-analyses were used for primary analysis. Studies not included in the meta-analysis were summarized descriptively. This review was registered in PROSPERO: CRD42022308105. FINDINGS: Of 933 records screened, 11 studies were included, and five were meta-analyzed, encompassing 354 cases and 5728 controls (mean participant age ranging from 7.1 to 58.9 years). Patients with vitamin D deficiency exhibited an Odds Ratio of 2.04 (95% CI = 1.55-2.68, P < 0.00001) for developing NIU compared to controls. Overall, potential sources of bias were low across most studies. INTERPRETATION: Our findings suggest that vitamin D may play an essential role in the pathophysiology of NIU. While the included studies demonstrated generally low potential bias, additional rigorous prospective studies are necessary to confirm these findings and further elucidate the underlying mechanisms involved. Vitamin D supplementation could represent a possible therapeutic strategy for preventing or managing NIU if substantiated. Clinicians should consider screening for and addressing vitamin D deficiency in patients with or at risk for NIU.

Education by a social robot on nutrition and catheter care in pediatric oncology patients.

PURPOSE: To improve knowledge on nutrition and catheter care in children with cancer by an educational intervention with a social robot. METHODS: We conducted a cohort study on pediatric cancer patients in a high complexity Hospital in Bogotá, Colombia. We included 14 patients (8-17 years old) who underwent an educational intervention with the help of a humanoid robot (Nao V6). The robot was programmed to transmit educational messages about self-care in feeding and using the central venous catheter. A survey with yes-no questions was administered before and after the intervention. RESULTS: We found an improvement in understanding of the subject matter related to nutrition and catheter care, when comparing the knowledge on topics before and after the educational intervention (p < .001). CONCLUSION: Education by a social robot on nutrition and catheter care showed a positive effect on children's knowledge on these topics. Therefore, it potentially decreases the risk of poor feeding habits and inadequate central venous catheter management, and improves adherence to recommendations and quality of life.

Clinical characterization of patients with HLA-B27-associated uveitis and evaluation of the impact of systemic treatment on the recurrence rate: a cross-sectional study.

INTRODUCTION: Despite HLA-B27-associated uveitis is one of the most frequent etiologies of uveitis worldwide, there are scarce studies on the clinical spectrum of this disease and the implications of therapeutic strategies used in the Latin-American population, with none conducted in Colombia. Thus, this study aimed to describe the clinical characteristics of a cohort of patients with positive HLA-B27-associated uveitis in Colombia and evaluate the impact of systemic treatment on the recurrence rate. METHODS: We retrospectively reviewed 490 clinical charts of patients with uveitis, searching for those with positive HLA-B27-associated uveitis over eight years in a referral center in Bogotá, Colombia. We used descriptive statistics to summarize demographic and clinical characteristics and conducted a Chi-square test, Fisher Exact test, Spearman correlation, and Mann-Whitney test to assess associations between treatment strategies and the recurrences rate. RESULTS: We analyzed 39 patients (59% females) with positive HLA-B27-associated uveitis, with a median age at the first consultation of 44.5 years (Range: 2-80) and a mean follow-up time of 86.4 weeks (1.65 years). Most patients had unilateral uveitis (53.8%) and an anterior anatomical diagnosis (76.6%); two had anterior chamber fibrinous reaction, and only one had hypopyon. Most patients did not show associated systemic symptoms (66.7%). Topical corticosteroids, NSAIDs, methotrexate, mydriatics, and adalimumab were the most used treatments. The most common complications included cataracts, posterior synechiae, and macular edema. We identified that the rate of recurrences decreases over time (r = -0.6361, P = 0.002571), and this decrease seems to be associated with the initiation of disease-modifying antirheumatic drugs (DMARDs) in chronic and recurrent cases. CONCLUSION: The clinical spectrum of HLA-B27-associated uveitis in Colombian patients is distinct from other latitudes. Notably, we found a female predominance, older age at presentation, higher frequency of bilateral and vitreous involvement, and lower frequency of concomitant systemic diseases. Additionally, our results suggest that DMARDs such as methotrexate and biologic agents are good therapeutic options to avoid recurrences in chronic and recurrent cases.

Consenso SOCHOG/SOCHUMB: utilizar en Chile la curva estándar OMS ultrasonográfica de crecimiento fetal / SOCHOG/SOCHUMB consensus: OMS fetal ultrasound curve is the standard curve for ultrasound growth assessment to use in Chile

La Sociedad Chilena de Obstetricia y Ginecología (SOCHOG) y la Sociedad Chilena de Ultrasonido en Medicina y Biología (SOCHUMB) convocaron a un comité de expertos en el tema de ultrasonido y crecimiento fetal con el fin de proponer utilizar la curva fetal que mejor se adapte a la población chilena. Luego de la discusión, al no contar con curvas chilenas de crecimiento fetal, se concluye proponer que la curva estándar de la Organización Mundial de la Salud (OMS) sería la indicada dada la calidad de su metodología y por ser multicéntrica.

The Chilean Society of Obstetrics and Gynecology (SOCHOG) and the Chilean Society of Ultrasound in Medicine and Biology (SOCHUMB) have convened a committee of experts on the subject of ultrasound and fetal growth in order to propose using the fetal curve that best adapts to the Chilean population. After the discussion, since there are no Chilean fetal growth curves, it is concluded that the World Health Organization (WHO) standard curve would be the one to use given the quality of its methodology and the fact that it is multicentric.

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state.

Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Origem anômala da artéria pulmonar direita da aorta ascendente (HEMITRUNCUS): uma condição rara que deve ser considerada / Anomalous origin of the right pulmonary artery from the ascending aorta (HEMITRUNCUS): a rare condition that should be considered

INTRODUÇÃO: O hemitruncus arteriosus (HT) é uma cardiopatia congênita muito rara, na qual uma das artérias pulmonares, mais comumente a artéria pulmonar direita (APD), origina-se da aorta ascendente. É uma malformação grave, com rápida evolução para hipertensão pulmonar (HP). Além de gerar sobrecarga pressórica no pulmão que recebe sangue diretamente da aorta, tal condição também causa sobrecarga volumétrica para o pulmão contralateral, irrigado pela artéria com origem no tronco pulmonar que recebe todo o volume sistólico do ventrículo direito (VD). Neste relato, apresentamos o caso de um lactente com diagnóstico de HT realizado através de ecocardiografia, submetido à correção cirúrgica. RELATO DE CASO: Lactente do sexo masculino, 1 mês de vida, nascido a termo. Encaminhado ao centro de referência após achado de sopro cardíaco durante internação hospitalar por infecção respiratória. À admissão, relato de cansaço e sudorese às mamadas, cianose ao choro e baixo ganho pôndero-estatural. Ao exame físico: sopro sistodiastólico 2+/4 na borda esternal esquerda alta, 2Í£bulha fisiológica, dispneia leve e SO2 de 90%. Radiografia de tórax: aumento da área cardíaca e da trama vascular pulmonar, mais evidente à direita. Eletrocardiograma: sinais de sobrecarga do VD. Ecocardiograma: APD com origem na aorta ascendente, com sinais indiretos de HP. O diagnóstico foi confirmado por angiotomografia. Paciente submetido à toracotomia mediana com redirecionamento da APD para o tronco pulmonar, aortoplastia com patch de pericárdio autólogo, secção e sutura do canal arterial. Ecocardiograma pós correção sem lesões residuais. No pós-operatório, recebeu óxido nítrico inalatório, e posteriormente Sildenafil, para manejo da HP. Recebeu alta após 14 dias para seguimento ambulatorial, mantendo-se estável do ponto de vista cardiológico. Conclusão: A origem anômala de uma artéria pulmonar a partir da aorta ascendente é uma malformação rara e potencialmente fatal. Embora possa ocorrer isoladamente, a origem anômala da APD está geralmente associada à persistência do canal arterial, defeito também presente no caso clínico relatado. Esta apresentação é muito mais frequente que a origem anômala da artéria pulmonar esquerda, cuja associação usual é com outros defeitos conotruncais, como a tetralogia de Fallot. Pela rápida evolução para hipertensão arterial pulmonar, a fim de evitar desfechos desfavoráveis, é fundamental que o diagnóstico e o tratamento cirúrgico sejam realizados precocemente.

Effect of a Change in the CaCl2/Pectin Mass Ratio on the Particle Size, Rheology and Physical Stability of Lemon Essential Oil/W Emulgels.

A three-step (rotor-stator-microfluidization-rotor stator) protocol was used to prepare 15% lemon essential oil in water emulgels using a mixture of Tween 80 and Span 20 surfactants as low molecular mass emulsifiers and 0.4% low-methoxyl citrus peel pectin as a gelling agent. Ca2+ was used as a gel-promoting agent. Different CaCl2/pectin mass ratio values from 0.3 to 0.7 were used. Emulgels showed a microstructure consisting of oil droplets embedded in a sheared gel matrix, as demonstrated by bright field optical microscopy. Laser diffraction tests showed multimodal particle size distributions due to the coexistence of oil droplets and gel-like particles. Multiple light scattering tests revealed that the physical stability of emulgels was longer as the CaCl2/pectin mass ratio decreased and that different destabilization mechanisms took place. Thus, incipient syneresis became more important with increasing CaCl2 concentration, but a parallel creaming mechanism was detected for CaCl2/pectin mass ratio values above 0.5. Dynamic viscoelastic and steady shear flow properties of the emulgels with the lowest and highest CaCl2/pectin mass ratio values were compared as a function of aging time. The lowest ratio yielded an emulgel with enhanced connectivity among fluid units as indicated by its wider linear viscoelastic region, higher storage modulus, loss modulus and viscosity values, and more shear thinning properties than those of the emulgel formulated with the highest CaCl2/pectin mass ratio. The evolution of the dynamic viscoelastic properties with aging time was consistent with the information provided by monitoring scans of backscattering as a function of sample height.

Síndromes compresivos del nervio mediano. Revisión y actualización de la bibliografía / Median nerve compression syndromes. Literature review and update

El nervio mediano desciende por el brazo y, en el codo, comienza a atravesar estructuras que pueden generar compresión, como el ligamento de Struthers, el lacertus fibrosus, el pronador redondo, el flexor superficial de los dedos. Finalmente, en la muñeca, se encuentra otro sitio de compresión producido por el ligamento transverso del carpo. Todas estas estructuras pueden provocar signos y síntomas de atrapamiento nervioso y favorecer el deterioro funcional del nervio. Nuestro objetivo es dar a conocer una actualización sobre estos sitios de atrapamiento del nervio mediano, y cómo realizar un diagnóstico preciso e indicar un trata-miento adecuado. Nivel de Evidencia: IV

The median nerve is a nervous structure that begins to cross structures at the level of the elbow that might cause compression. The Struthers ligament, lacertus fibrosus, pronator teres, and flexor digitorum superficialis are among them. Finally, the transverse carpal ligament creates another compression site in the wrist. All these structures can develop pathological signs and symptoms of nerve entrapment, which favors nerve functional degradation. Our objective is to provide an update on these median nerve entrap-ment sites, as well as information on how to establish an accurate diagnosis and provide adequate treatment. Level of Evidence: IV

Epidemiological profile of congenital hypothyroidism at a southern Brazilian state

ABSTRACT Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Bradicardia em atleta adolescente de alto rendimento. A importância da avaliação eletrocardiográfica e funcional / Bradycardia in a high-performance adolescent athlete. The importance of electrocardiographic and functional evaluation

INTRODUÇÃO E/OU FUNDAMENTOS: A presença de bradicardia durante o repouso é um achado comum em atletas de alto rendimento. Entretanto a avaliação funcional clínica pura e simples não é sinal de um atleta saudável. No mesmo cenário episódios de síncope podem ocorrer em até 20% dos adolescentes com coração normal. A avaliação clínica pré-participação avalia atletas e esportistas, antes de iniciar atividades de moderada à alta intensidade, com o objetivo de identificar doenças cardiovasculares e a detectar precocemente doenças causadoras de morte súbita cardíaca que possam contraindicar a realização do mesmo. OBJETIVO: Descrever o caso de uma atleta adolescente com bradicardia em repouso e pré sincope com diagnóstico diferencial entre over training e espectro de BAV congênito. RELATO DO CASO: Paciente de 12 anos, sexo feminino, previamente hígida, atleta competitiva. Admitida em nosso serviço após episódios de pré sincope, sem fatores desencadeantes. Na admissão identificado bradicardia com estabilidade hemodinâmica, FC de 43 batimentos por minuto (bpm) e eletrocardiograma (ECG), com diagnóstico de ritmo juncional ativo. Realizado, teste ergométrico com ritmo juncional ativo e períodos de ritmo sinusal com wenckebach (no pico do esforço) e déficit cronotrópico. Teste cardiopulmonar máximo com VO2 pico = 48,5ml.kg, 131% do valor predito para a idade, com presença de distúrbio cardiocirculatório pelo cronotropismo deprimido e ritmo cardíaco basal. Presença associada de doença do nó sinusal e comprometimento da condução atrioventricular no espectro clinico de BAVT congênito. Excluído miocardite ativa, com sorologias negativas, cintilografia cardíaca com gálio e ressonância magnética de coração. Por fim, paciente mantendo estabilidade hemodinâmica sem novos sintomas. Orientamos a suspensão das atividades físicas competitivas e instalação de monitorização prolongada para indicação precoce de marcapasso. CONCLUSÕES: Conclusão: 1) A realização do ECG associado à avaliação clínica (a amnésia e exame físico) é extremamente importante na triagem pré-participação esportiva. 2) Existem alterações eletrocardiográficas no coração de atleta que são variantes da normalidade para a condição como BAV de segundo grau do tipo I (Wenckebach) no repouso mas não no esforço. 3) O descondicionamento físico e a monitorização clínica é eletrocardiográfica prolongada pode evidenciar novas nuances para manutenção do seguimento clínico e esportivo mas também auxilia na indicação adequada do marcapasso.

Taquicardia associada à disfunção ventricular. Causa ou consequência? Descrição de um caso de taquicardiomiopatia por taquicardia atrial perinodal / Tachycardia associated with ventricular dysfunction. Cause or consequence? Description of a case of tachycardiomyopathy due to perinodal atrial tachycardia

INTRODUCAO: A diferenciação entre causa ou consequência pode ser um desafio principalmente na definição de ritmos taquicárdicos na insuficiência cardíaca grave com severa disfunção ventricular (ICFER). Os casos de taquicardiomiopatia por taquicardia atrial (TA) perisinusal muitas vezes são indistinguíveis da taquicardia sinusal (TS) compensatória fruto da tentativa de aumentar o débito cardíaco e do aumento estresse catecolaminérgico. Definir um quadro de taquicardiomiopatia permite remover a causa da ICFER e na maioria dos casos gerarem remodelamento reverso e a recuperação da fração de ejeção. Nestes casos a avaliação adequada é passo essencial ao tratamento invasivo definitivo que pode salvar uma vida. OBJETIVO: descrever o caso de uma adolescente com quadro de ICFER Classe funcional IV com ECG compatível com TS persistente cujo diagnóstico final de taquicardomiopatia secundária a TA perinodal permitiu o tratamento invasivo e o remodelamento reverso. DISCUSSÃO DO CASO: Menina de 12 anos referenciada por suspeita de miocardiopatia pós-miocardite. Apresentava sinais de baixo débito, com pro BNP de 35.000pg/ml. O ECG revelou TS com BAV 1º grau com FC de 120 bpm com baixa variabilidade ao Holter. ECO de entrada FEVE (Simpson): 18%. Utilizou tratamento otimizado com metoprolol, espironolactona, furosemida e Sacubitril/valsartana. Durante a progressão do betabloqueador observou-se entrada e saída súbita de taquicardia levantando a possibilidade de TA perisinusal e taquicardiomiocardiopatia. Durante a avaliação invasiva observou nó sinusal anteriorizado e presença de TA em base de apêndice atrial direito. Realizou mapeamento com cateter terapêutico de radiofrequência de 4 mm com precocidade de até 20 ms na região citada com desaparecimento da TA após o início da radiofrequência. Seguimento de curto prazo (1 semana) com reversão dos sinais de ICFER atualmente CF II NYHA com avaliação ecocardiográfica demonstrando elevação da FEVE (Simpson): 44%. Strain global longitudinal do VE: -8,5% e posteriormente 44% (2 semanas). ECG em ritmo sinusal. CONCLUSÕES: 1) O diagnóstico preciso do ritmo de uma taquicardia associada à disfunção permite a diferenciação entre a taquicardia como causa ou consequência 2) O tratamento invasivo dos quadros de taquicardiomiopatia permitem a recuperação da FEVE e melhora da classe funcional 3) A terapia medicamentosa otimizada para ICFER deve ser mantida mesmo após a remoção da causa da disfunção e melhora da classe funcional.

Tumor cardíaco na infância: quando pensar em fibroma? Relato de caso / Heart tumor in childhood: when to think about fibroma? Case report

INTRODUÇÃO E/OU FUNDAMENTOS: Introdução: Cerca de 90% dos tumores cardíacos na faixa etária pediátrica são classificados como primários benignos representados majoritariamente pelos rabdomiomas. Os fibromas, por sua vez, constituem um tipo bastante raro na infância, sendo caracterizados por massa tumoral única, bem delimitada, não contrátil, ecogênica e heterogênea no interior do miocárdio, frequentemente localizados no septo interventricular (SIV) e parede livre ventricular. Diferentemente dos rabdomiomas, podem apresentar calcificações centrais típicas e não costumam regredir espontaneamente. Em caso de repercussão hemodinâmica (obstrução ao fluxo, insuficiência cardíaca congestiva (ICC) ou arritmia ventricular), a depender da extensão da massa neoplásica para o interior da cavidade ventricular, a única opção terapêutica possível é ressecção total ou parcial do tumor, além do transplante cardíaco. RELATO DO CASO: Relato de caso: Lactente do sexo feminino, nascida a termo, encaminhada ao centro de referência com 11 meses de idade. História de sopro cardíaco ao nascimento. À admissão, genitora negou queixas cardiovasculares. Exame físico: sopro sistólico 2+/4 em BEEM, B2 fisiológica, SatO2 de 98%, sem sinais de ICC. Radiografia de tórax: aumento da área cardíaca (ICT 0,75) e da trama vascular pulmonar. Eletrocardiograma: sobrecarga ventricular direita e desvio extremo do SÂQRS à -144º. Ecocardiograma (ECO): massa extensa única, medindo 48x54mm, aderida ao SIV com centro calcificado e sem vascularização, com redução luminal dos ventrículos e obstrução dinâmica na via de saída do ventrículo direito gerando gradiente sistólico máximo de 30mmHg. O diagnóstico de fibroma foi corroborado pela ressonância magnética cardíaca (RMC). Paciente segue estável, assintomática do ponto de vista cardiovascular, em acompanhamento ambulatorial. CONCLUSÕES: Conclusão: Atualmente, o diagnóstico e a classificação dos tumores cardíacos na infância, mesmo os mais raros como o fibroma, podem ser definidos pela análise clínica e, sobretudo, das imagens do ECO e da RMC, permitindo também a diferenciação de diagnósticos importantes como cistos, trombos e vegetações. Inegavelmente, a despeito do prognóstico inicial, a investigação precoce, a intervenção oportuna (clínica e/ou cirúrgica) e o seguimento especializado regular são essenciais para um desfecho mais favorável a longo prazo.

Uso de Sirolimus em rabdomioma cardíaco na infância: resultados tardios / Sirolimus use in childhood cardiac rhabdomyoma: late results

INTRODUÇÃO E/OU FUNDAMENTOS: Os rabdomiomas são os tumores cardíacos mais comuns na infância, podendo ser únicos ou múltiplos, comumente assintomáticos. A associação com esclerose tuberosa ocorre em 60% a 80% dos casos. Os inibidores da mTOR (proteína alvo da Rapamicina), como Sirolimus, vêm sendo utilizados para tratar essas lesões, demonstrando eficácia na redução da massa neoplásica, evitando-se a ressecção cirúrgica. RELATO DO CASO: Trata-se de uma paciente do sexo feminino, com diagnóstico pré-natal de tumores intracardíacos. Parto e nascimento sem intercorrências, mas iniciou com Prostaglandina E (PGE) nas primeiras horas de vida devido a obstrução ao fluxo sistêmico pelos tumores, evoluindo com choque e comprometimento funcional biventricular aos 13 dias de vida. Foi encaminhada à Unidade de Terapia Intensiva (UTI) de um serviço de referência em cardiologia pediátrica em uso de Milrinone. Realizado ecocardiograma (ECO), que evidenciou múltiplas imagens arredondadas lobuladas, hiperecogênicas e homogêneas distribuídas por todo o miocárdio de ambos os ventrículos e no septo interventricular (maior delas com diâmetro de 34 x 26mm) sem causar obstrução ao fluxo de entrada ou saída naquela ocasião. A hipótese de rabdomiomas se deu pelo aspecto ecográfico das lesões, história clínica e epidemiologia. Foi optado por não realizar biópsia ou ressecção, pelo alto risco do procedimento. Criança tolerou suspensão da PGE, extubação e recebeu alta da UTI. Foi iniciado o tratamento com Sirolimus na enfermaria, mantendo seguimento ambulatorial após. Atualmente, o paciente está com 2 anos de idade, segue clinicamente estável e nunca apresentou sinais de toxicidade pela medicação. Tem-se observado redução progressiva dos tumores e melhora da função ventricular. A criança tem o diagnóstico de esclerose tuberosa e segue em acompanhamento multidisciplinar. CONCLUSÕES: Embora geralmente inofensivos, os rabdomiomas cardíacos podem cursar com obstrução, insuficiência cardíaca e/ou arritmia grave. Até há pouco tempo, para tais casos, a única opção terapêutica existente era a intervenção cirúrgica. O uso de drogas citorredutoras, como Sirolimus, vem se consolidando na literatura como uma alternativa eficaz e segura na abordagem desses tumores, com resultados promissores em longo prazo, como neste caso.

Ocular Manifestations Related to Antibodies Positivity and Inflammatory Biomarkers in a Rheumatological Cohort.

Purpose: Ocular involvement is frequent in autoimmune diseases and even can be the first manifestation. There are multiple descriptions in the literature around the world regarding this topic. However, we evidenced a lack of studies analyzing the relationship between the ocular manifestations and systemic biomarkers, especially in Latinamerica. Therefore, this study aimed to examine the relationship between the positivity of inflammatory biomarkers and the ocular manifestations in a Colombian cohort of rheumatological patients. Patients and Methods: We conducted an observational, descriptive, non-comparative cross-sectional study in a rheumatology center, in Bogotá, Colombia, from 2013 to 2019. We calculated a sample size of 797 patients to assess the prevalence of ocular manifestations and inflammatory biomarkers. We performed univariate analyses for categorical and continuous variables and bivariate analyses using the Chi-square and Fisher's exact test for categorical variables. Results: Women represented 84% of the population, and the mean age was 54.61± 15.64 years. Of 797 patients, 21.45% reported one or more ophthalmological diagnoses, being keratoconjunctivitis sicca (KCS) the most common (15.93%), followed by uveitis, and cataract (1.38%, each one). Regarding ophthalmological symptoms, 35% presented at least one, being dry eye sensation (DE) the most common (30.86%), followed by ocular pain (2.76%), red eye, and decreased visual acuity (2.63%, each one). The antibodies or inflammatory biomarkers most frequently found were antinuclear antibodies (ANAs) (35.3%), C-reactive protein (28.7%), and rheumatoid factor (27.9%). We found statistical associations between consumption of complement 3, anti-CCP, anti-RO, and anti-LA antibodies with ocular manifestations such as photophobia, DE, conjunctivitis, KCS, uveitis, retinal vasculitis, and maculopathy. Conclusion: Ocular manifestations are frequently found in patients with positive antibodies and inflammatory biomarkers. Our results suggest antibodies and inflammatory molecules could be biomarkers for ocular manifestations in patients with rheumatological diseases. This study provides the basis for future longitudinal studies.