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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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