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This study aimed to characterize the epidemiological aspects of PrEP use and barriers to accessing this prophylaxis. This cross-sectional study was conducted between January 2021 and April 2022, encompassing 140 PrEP users treated at the Testing and Counseling Center (CTA) in Campo Grande, Mato Grosso do Sul. Data on sociodemographic characteristics and factors associated with PrEP discontinuation were obtained using a standardized questionnaire. Most PrEP users were cisgender men (92.00%), predominantly white (51.00%), over 30 years of age (56.50%), homosexual-oriented (76.50%), and had a minimum of 12 years of education (77.50%). Approximately 60.00% admitted to inconsistent condom use in recent sexual encounters, primarily involving anal intercourse. Approximately 88.00% perceived themselves as at risk of contracting STIs in the upcoming year. Regarding new presentation forms, 54.00% indicated a willingness to use "on-demand PrEP," and 92.00% expressed interest in using "injectable PrEP." After 6 months of follow-up, 43.60% (95.00% CI: 35.50-52.00) discontinued PrEP use, primarily due to changes in sexual behavior (38.30%) and difficulties accessing healthcare services (21.28%). This study underscores the need to involve diverse key populations and highlights the significance of PrEP as an ongoing monitoring strategy for HIV/STI prevention in addition to the importance of incorporating new formulations such as daily oral PrEP into the Brazilian National Health System (SUS).

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Spalt-like proteins are Zinc finger transcription factors from Caenorhabditis elegans to vertebrates, with critical roles in development. In vertebrates, four paralogues have been identified (SALL1-4), and SALL2 is the family's most dissimilar member. SALL2 is required during brain and eye development. It is downregulated in cancer and acts as a tumor suppressor, promoting cell cycle arrest and cell death. Despite its critical functions, information about SALL2 regulation is scarce. Public data indicate that SALL2 is ubiquitinated and phosphorylated in several residues along the protein, but the mechanisms, biological consequences, and enzymes responsible for these modifications remain unknown. Bioinformatic analyses identified several putative phosphorylation sites for Casein Kinase II (CK2) located within a highly conserved C-terminal PEST degradation motif of SALL2. CK2 is a serine/threonine kinase that promotes cell proliferation and survival and is often hyperactivated in cancer. We demonstrated that CK2 phosphorylates SALL2 residues S763, T778, S802, and S806 and promotes SALL2 degradation by the proteasome. Accordingly, pharmacological inhibition of CK2 with Silmitasertib (CX-4945) restored endogenous SALL2 protein levels in SALL2-deficient breast MDA-MB-231, lung H1299, and colon SW480 cancer cells. Silmitasertib induced a methuosis-like phenotype and cell death in SW480 cells. However, the phenotype was significantly attenuated in CRISPr/Cas9-mediated SALL2 knockout SW480 cells. Similarly, Sall2-deficient tumor organoids were more resistant to Silmitasertib-induced cell death, confirming that SALL2 sensitizes cancer cells to CK2 inhibition. We identified a novel CK2-dependent mechanism for SALL2 regulation and provided new insights into the interplay between these two proteins and their role in cell survival and proliferation.

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OBJECTIVE: There are limited studies on urogenital symptoms in women who experience menopause before the age of 40 years due to primary ovarian insufficiency (POI) or bilateral oophorectomy (surgical POI). This study aimed to compare the urogenital symptoms, including sexuality, of women with POI to those without the condition. METHODS: This cross-sectional study conducted was in seven Latin American countries, in which postmenopausal women (with POI and non-POI) were surveyed with a general questionnaire, the Menopause Rating Scale (MRS) and the six-item Female Sexual Function Index (FSFI-6). The association of premature menopause with more urogenital symptoms and lower sexual function was evaluated with logistic regression analysis. RESULTS: Women with POI experience more urogenital symptoms (MRS urogenital score: 3.54 ± 3.16 vs. 3.15 ± 2.89, p < 0.05) and have lower sexual function (total FSFI-6 score: 13.71 ± 7.55 vs. 14.77 ± 7.57 p < 0.05) than women who experience menopause at a normal age range. There were no significant differences in symptoms when comparing women based on the type of POI (idiopathic or surgical). After adjusting for covariates, our logistic regression model determined that POI is associated with more urogenital symptoms (odds ratio [OR]: 1.38, 95% confidence interval [CI] 1.06-1.80) and lower sexual function (OR: 1.67, 95% CI 1.25-2.25). CONCLUSION: POI, whether idiopathic or secondary to bilateral oophorectomy, is associated with symptoms that affect vaginal and sexual health.

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INTRODUCTION: Developmental dysplasia of the hip is the cause of approximately one third of secondary coxarthrosis. Anatomy alterations make it difficult to place a total hip prosthesis in its anatomical position and for it to be stable in the long term; there are several techniques to achieve this goal. In the present work, we used autograft of the femoral head (shelf graft or reinforced roof), to improve the coverage of the acetabular component with favourable results. MATERIALS AND METHODS: Sixteen cases were included in 14 patients with a diagnosis of developmental dysplasia of the hip (13 women and one man), the mean age was 44.3 years (range 35-68 years), with a mean follow-up of 7 years (range 1-15 years). All the cases were evaluated clinically and radiographically, to demonstrate the osseointegration of the graft and the functional results in the medium term. RESULTS: All the acetabular components were placed in anatomical position (Ranawat technique), the mean percentage of host bone coverage was 54.53% (range 43.28-79.05%), obtaining additional coverage with the bone graft of 45.13%. Osseointegration of the graft of 100% at 12 weeks, resorption of the graft from the sixth month, stabilising in the third postoperative year. Only one case of dislocation is reported, no cases of infection, loosening, heterotopic ossification or revision. CONCLUSION: This procedure has shown good functional results in the medium term with 100% osseointegration, despite cases of severe bone resorption of the graft that does not compromise the stability of the prosthesis.

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BACKROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-grade spindle cell sarcoma of fibroblastic origin. This tumor originates in the dermis and infiltrates the subcutaneous tissue. The highest incidence occurs in the third and fourth decades of life, affecting most frequently the trunk and proximal extremities. Ultrasound is performed in those cases where the clinical appearance of the lesion is not typical and when the physician wants to determine the extent and depth of the lesion. MATERIAL AND METHODS: Retrospective analysis of the ultrasound and demographic findings of thirteen patients with DFSP. RESULTS: 13 patients, 8 females and 5 males, aged from 2 months to 58 years old. One patient with two different separated synchronous tumors. On ultrasonography they compromised the dermal hypodermal layers in 93% of the cases and 1 dermal lesion. The compromise reached the aponeurotic plane in two cases. The sized varied from 5 to 38 mm. They presented as a well-defined hypoechogenic nodule in seven cases (50%). In three cases (21%) they presented as a hypoechogenic infiltrate ill-defined border solid lesion; in two cases as a plaque ill-defined lesion, and two cases as a pseudonodular inflammatory lesion with irregular borders. All lesions appeared vascularized on color Doppler imaging. CONCLUSION: DFSP is a low grade sarcoma of fibroblastic origin, that usually arises in the dermis and infiltrates the subcutaneous tissue. The clinical presentations are variable. On ultrasound we found different patterns: well-defined hypoechogenic solid nodule, hypoechogenic infiltrate ill-defined border solid lesion, plaque ill-defined lesion, and pseudonodular inflammatory lesion. It is important to know and recognize this suspicious different ultrasound presentations in order to recommend a histological study.

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PURPOSE: The objective of this double-blind, split-mouth, randomized clinical trial was to evaluate the color match of a single-shade composite resin Admira Fusion X-tra in comparison with a multi-shade composite resin Admira Fusion in non-carious cervical lesion restorations (NCCLs). METHODS AND MATERIALS: One hundred and twenty restorations were performed on NCCLs with two restorative materials (n=60). After prophylaxis, the teeth were isolated with a rubber dam, and one universal adhesive was applied in the selective enamel etching strategy. For both groups, the restorations were inserted incrementally and light-cured. The values of the coordinates L*, a*, and b* in the cervical third before vs after the restorations and cervical vs middle third after the restorations were evaluated using a digital spectrophotometer after the coordinate values were used to calculate the CIEDE (ΔE00). The restorations were evaluated at baseline and after 7 days of clinical performance according to the FDI criteria. Statistical analysis was performed using the Chi-square test for all parameters. Color change was analyzed by Student t-test for paired samples (α=0.05). RESULTS: All restorations were evaluated after 7 days. Regarding the color measurement, no significant difference was observed when Admira Fusion was compared to Admira Fusion X-tra for any of the comparisons performed (p>0.05). However, the values of ΔE00 in the cervical third before vs after the restorations were higher when compared with ΔE00 observed when the cervical vs middle third after restorations were compared. All restorations received the score "clinically very good" after 7 days for all outcomes, including the subjective color match, when evaluated for FDI criterion. CONCLUSIONS: The single-shade composite resin used achieves the same color match when compared to a multi-shade composite resin after 7 days in NCCLs.

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The genus Psittacanthus (Loranthaceae) is widely distributed in the Neotropical region, where it is known for its large, colourful, scentless flowers. Until very recently, all Psittacanthus species were regarded as exclusively hummingbird-pollinated and the large species radiation in the genus attributed to the interactions with bird dispersers and pollinators. P. eucalyptifolius (Kunth) G.Don. is the only species reported as bee-pollinated. Here we describe the floral biology, floral visitors, and the reproductive system of P. eucalyptifolius in an Amazonian savanna, Brazil. We also compare the pollination success (reproductive performance) among different Psittacanthus species reported in previous studies. Psittacanthus eucalyptifolius produces sweet-scented flowers, and a small quantity of concentrated nectar. At least five species of scopate bees were recorded visiting and carrying pollen of P. eucalyptifolius. Xylocopa frontalis carried most pollen, visited more flowers, remained longer, and touched reproductive parts of flowers in >95% of the observed visits. Experiments indicate that P. eucalyptifolius is partially autocompatible (39% autonomous pollination) but depends on pollinators to achieve higher performance (~78% in control), indicating that bees can be as effective as birds in pollinating this group of mistletoes.

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Developmental dysplasia of the hip is the cause of approximately one third of secondary coxarthrosis. Anatomy alterations make it difficult to place a total hip prosthesis in its anatomical position and for it to be stable in the long term; there are several techniques to achieve this goal. In the present work, we used autograft of the femoral head (shelf graft or reinforced roof), to improve the coverage of the acetabular component with favorable results. MATERIALS AD METHODS: Sixteen cases were included in 14 patients with a diagnosis of developmental dysplasia of the hip (13 women and one man), the mean age was 44.3 years (range 35-68 years), with a mean follow-up of 7 years (range 1-15 years). All the cases were evaluated clinically and radiographically, to demonstrate the osseointegration of the graft and the functional results in the medium term. RESULTS: All the acetabular components were placed in anatomical position (Ranawat technique), the mean percentage of host bone coverage was 54.53% (range 43.28-79.05%), obtaining additional coverage with the bone graft of 45.13%. Osseointegration of the graft of 100% at 12 weeks, resorption of the graft from the sixth month, stabilizing in the third postoperative year. Only one case of dislocation is reported, no cases of infection, loosening, heterotopic ossification or revision. CONCLUSION: This procedure has shown good functional results in the medium term with 100% osseointegration, despite cases of severe bone resorption of the graft that does not compromise the stability of the prosthesis.

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Magnetic antiperovskites, having chiral noncollinear antiferromagnetic ordering, have shown remarkable properties that range from negative thermal expansion to anomalous Hall effects. Nevertheless, details on the electronic structure, related to the oxidation states and the octahedral center's site effects, are still scarce. Here, we show a theoretical study, based on first-principles calculations in the framework of density-functional theory (DFT), on the electronic properties associated with the nitrogen site effects on the structural, electronic, magnetic, and topological degrees of freedom. Thus, we show that the nitrogen vacancy increases the value of the anomalous Hall conductivity and retains the chiral Γ4g antiferromagnetic ordering. Moreover, we reveal, based on the Bader charges and the electronic structure analysis, the negative and positive oxidation states of the Ni- and Mn-sites, respectively. This is in agreement with the expected A3α+Bß-Xδ- oxidation states to satisfy charge neutrality in antiperovskites, but the negative charge is rare for transition metals. Finally, we extrapolate our findings on the oxidation states to several Mn3BN compounds, showing that the antiperovskite structure is an ideal platform to encounter negative oxidation states for metals sitting at the corner B-sites.

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A utilização de plantas medicinais como alternativa terapêutica vem atingindo um público cada vez maior. Assim, os fitoterápicos podem atuar como forma opcional de terapêutica levando em consideração o menor custo, e cujos benefícios se somam aos da terapia convencional. Com isso, o objetivo deste trabalho foi enfatizar a importância do cultivo e do uso racional de medicamentos fitoterápicos e plantas medicinais. Para tanto, foram incluídos artigos em português e inglês inseridos no banco de dados: Scielo, Google acadêmico, além de revistas eletrônicas, livros com embasamento científico de referência e base de dados do Ministério da Saúde entre os anos de 2018 a 2022. As plantas medicinais e os medicamentos fitoterápicos podem provocar efeitos adversos, interferir no efeito de medicamentos utilizados concomitantemente, além da possibilidade de causar intoxicações pela presença de contaminantes em produtos de baixa qualidade. Para a produção de bioativos, em níveis quali e quantitativamente adequados, o cultivo das plantas medicinais deve ser cuidadosamente realizado, através de técnicas adequadas para preservação do solo e plantio são essenciais, como a utilização de adubos verdes e a cobertura vegetal, que além de protegerem o solo da radiação solar, prevenir a evaporação excessiva da água e melhorar as características físicas, químicas e biológicas do sol. Esses critérios influenciam a qualidade do fitoterápico, portanto a fim de garantir a eficácia terapêutica, as plantas devem ser corretamente cultivadas, coletadas, identificadas e conservadas. Sendo assim, conclui-se que a utilização de plantas medicinais para tratamentos tem sido cada vez mais indicada pelos profissionais da saúde, ressaltando a importância do uso seguro e racional, com alerta para as suas consequências.

The use of medicinal plants as a therapeutic alternative has been reaching a growing public. Thus, herbal medicines can act as an optional form of therapy taking into account the lowest cost, and whose benefits are added to those of conventional therapy. Thus, the objective of this work was to emphasize the importance of the cultivation and rational use of herbal medicines and medicinal plants. To this end, articles in Portuguese and English inserted in the database: Scielo, Google academic, in addition to electronic journals, books with scientific reference base and database of the Ministry of Health between the years 2018 to 2022 were included. herbal medicines can cause adverse effects, interfere with the effect of medicines used concomitantly, in addition to the possibility of causing poisoning due to the presence of contaminants in low-quality products. For the production of bioactives, at qualitatively and quantitatively appropriate levels, the cultivation of medicinal plants must be carefully carried out, through techniques cultivated for soil preservation and planting are essential, such as the use of green manures and vegetation cover, which in addition to protect the soil from solar radiation, prevent excessive water evaporation and improve the physical, chemical and biological characteristics of the sun. These criteria influence the quality of the herbal medicine, therefore, in order to guarantee therapeutic efficacy, as the plants must be correctly cultivated, collected, identified and conserved. Therefore, it is concluded that the use of medicinal plants for treatments has been increasingly indicated by health professionals, emphasizing the importance of safe and rational use, with an alert to its consequences.

El uso de plantas medicinales como alternativa terapéutica ha ido alcanzando un público cada vez más amplio. Así, las plantas medicinales pueden actuar como una forma opcional de terapia teniendo en cuenta el menor coste, y cuyos beneficios se suman a los de la terapia convencional. Así, el objetivo de este trabajo fue destacar la importancia del cultivo y uso racional de las hierbas medicinales y plantas medicinales. Para ello, los artículos en portugués e Inglés insertados en la base de datos: Scielo, Google académico, además de revistas electrónicas, libros con base de referencia científica y base de datos del Ministerio de Salud entre los años 2018 a 2022 fueron incluidos. medicamentos a base de hierbas pueden causar efectos adversos, interferir con el efecto de los medicamentos utilizados concomitantemente, además de la posibilidad de causar intoxicación debido a la presencia de contaminantes en productos de baja calidad. Para la producción de bioactivos, en niveles cualitativa y cuantitativamente adecuados, el cultivo de plantas medicinales debe ser realizado cuidadosamente, siendo esenciales técnicas de preservación del suelo y de plantación, como el uso de abonos verdes y cobertura vegetal, que además de proteger el suelo de la radiación solar, evitan la evaporación excesiva del agua y mejoran las características físicas, químicas y biológicas del sol. Estos criterios influyen en la calidad de la fitoterapia, por lo que, para garantizar la eficacia terapéutica, las plantas deben cultivarse, recolectarse, identificarse y conservarse correctamente. Por lo tanto, se concluye que el uso de plantas medicinales para tratamientos ha sido cada vez más indicado por los profesionales de la salud, enfatizando la importancia del uso seguro y racional, con alerta a sus consecuencias.

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We carried out theoretical and experimental analyses of ZnO and ZnS nanoparticles as smart semiconductor materials in light-activated antimicrobial coating for application in masks. We used low-cost hydrothermally processable precursors to direct the growth of the coatings on cotton fabric. Both ZnO and ZnS coatings had high reactivities as disinfection agents in photocatalysis reactions for the degradation of a methylene blue dye solution. Also, these coatings showed excellent UV protection properties. For understanding at the molecular level, the broad-spectrum biological activities of the ZnO and ZnS coatings against Fusarium Oxysporum fungi, Escherichia coli bacteria, and severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus and their variants, were investigated computationally. Hexagonal Zn6O6 and Zn6S6 clusters were used as models for the simulations through excited- and ground-state calculations. The theoretical findings show that changes in the local chemical environment in these excited systems have a profound impact on their physical and chemical properties and thus, can provide a better understanding to engineer new functional materials in light-activated antimicrobial coatings for the mitigation of SARS-CoV-2 infection.

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The time-evolution operator obtained from the fractional-time Schrödinger equation (FTSE) is said to be nonunitary since it does not preserve the norm of the vector state in time. As done in the time-dependent non-Hermitian quantum formalism, for a traceless non-Hermitian two-level quantum system, we demonstrate that it is possible to map the nonunitary time-evolution operator in a unitary one. It is done by considering a dynamical Hilbert space with a time-dependent metric operator, constructed from a Hermitian time-dependent Dyson map, in respect to which the system evolves in a unitary way, and the standard quantum mechanics interpretation can be made properly. To elucidate our approach, we consider three examples of Hamiltonian operators and their corresponding unitary dynamics obtained from the solutions of FTSE, and the respective Dyson maps.

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OBJECTIVE: To identify associated factors with the appearance of pseudophakic retinal detachment in patients with history of cataract surgery. METHODS: Retrospective case-control study of 802 eyes of 783 patients with history of cataract surgery. Cases were patients with pseudophakic retinal detachment (n = 258 eyes), while controls were patients with cataract surgery who did not developed retinal detachment during a 10-year follow-up period (n = 544 eyes). RESULTS: Age at cataract surgery among cases was lower than in the control group (57 ± 13 vs. 67 ± 14 years old, respectively; p < 0.0001). Age at retinal detachment was 59 ± 13 years old (range 6-88) and the time between the cataract surgery and the retinal detachment had a median of 2 years (interquartile range 1-4) with a range of 1 month to 14 years. Associated factors for pseudophakic retinal detachment were younger age (<50 years: adjusted odds ratio [aOR] = 18.03, 95% confidence interval [95%CI] = 5.92-54.87; 50-59 years: aOR = 10.09, 95%CI = 3.37-30.23; and 60-69 years: aOR = 5.48, 95%CI = 1.88-15.93), male sex (aOR = 3.71, 95%CI = 2.54-5.44), anterior vitrectomy (aOR = 3.26, 95%CI = 1.16-9.16), history of retinal detachment in the fellow eye (aOR = 6.95, 95%CI = 3.15-15.31), and intraoperative complications during cataract extraction (aOR = 7.45, 95%CI = 3.54-15.69). CONCLUSIONS: This is the first report of associated factors with pseudophakic retinal detachment in a Colombian population. Surgical complications, sex, and age were found to be associated with retinal detachment. Patients should be aware of these potential risks to make informed decisions about their eye health.

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OBJECTIVES: This double-blind, randomized clinical trial evaluated the influence of dentin moisture on postoperative sensitivity (POS), as well as, on clinical performance in posterior bulk-fill composite restorations, using a universal adhesive, until 12 months after clinical service. METHODS AND MATERIALS: In accordance with a split-mouth design, 45 patients received posterior restorations, restored with a bulk-fill resin composite (Filtek Bulk Fill, 3M Oral Care) and a universal adhesive used in etch-and-rinse mode (SBU; Single Bond Universal Adhesive), which were applied on dry or moist dentin, with a cavity depth of at least 3 mm. Three operators placed 90 Class I/Class II restorations. Patients were evaluated for spontaneous and stimulated POS in the baseline, and after 48 hours, 7 days, and at 6 and 12 months. In addition, secondary parameters (marginal discoloration, marginal adaptation, fracture, and recurrent caries) were evaluated by World Dental Federation (FDI) criteria after 7 days and at 6 and 12 months. Statistical analyzes were performed using the Chi-square, Fisher exact, Friedman, Kruskall-Wallis, and Mann-Whitney tests (α=0.05). RESULTS: No significant spontaneous and stimulated POS was observed when SBU was applied in dry and moist dentin (p>0.05). A significant and higher risk of spontaneous POS (20.0%; 95%CI 10.9-33.82 for dry dentin and 22.22%; 95%CI 12.54-36.27 for moist dentin) occurred up to 48 hours after restoration placement for the dry and moist dentin groups (p<0.02). However, the POS intensity was mild up to 48 hours with no significant difference between dry and moist dentin groups (p>0.79). When secondary parameters were evaluated, no significant differences between the groups were observed. CONCLUSION: Dentin moisture did not influence POS in posterior bulk-fill composite restorations when associated with a universal adhesive applied in etch-and-rinse mode.

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PURPOSE: The current treatment of complex ventral hernias involves muscle closure with components separation techniques and mesh placement. The purpose of this study is to evaluate the immediate postoperative changes in the intra-abdominal pressure (IAP), and lung indicators after treatment of complex ventral hernias with the transversus abdominis reléase (TAR) technique. METHODS: All patients with complex ventral hernias treated between November 28th, 2016 and October 6th, 2021 were initially included. We excluded patients with lung and/or heart comorbidities. A total of 43 patients were studied, measuring IAP, lung compliance, pulmonary plateau pressure (PPP), and end-tidal CO2 before and after surgical treatment. RESULTS: Median IAP increased from 5 to 9 mmHg (p < 0.0001), and PPP from 11 to 12 mmHg (p = 0.004). Increased body mass index (BMI) was associated to a PPP increase above normal values. Postoperative changes were not different in patients receiving preoperative preparation with botulinum toxin. CONCLUSION: After complex ventral hernia closure, there is an immediate impact on IAP and PPP, the latter more frequent in patients with the highest BMI, and this may not be prevented by the preoperative administration of botulinum toxin.

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In this study, graphitic carbon nitride quantum dots (g-C3N4QDs) were synthesized using different solvents, characterized, and then exposed to a gamma-ray source (137Cs) at irradiation doses of 0.1, 1.48, 2.05 and 3.25 Gy. The intensities of the emission bands progressively were attenuated as the received dose of gamma radiation increased. The changes were quantified with the help of a non-linear fit model. The material showed promising use as a dosimeter for low-dose radiation applications.

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Los aneurismas de las arterias coronarias (AAC) son poco comunes, con una incidencia de 0.3-5.3%. Se definen como una dilatación 1.5 veces mayor al diámetro interno de la arteria normal adyacente. La arteria coronaria derecha es la más comúnmente afectada. Su fisiopatología es poco clara, pero se cree que una de sus principales causas es la aterosclerosis. Los AAC son generalmente asintomáticos o pueden estar asociados a isquemia miocárdica. Su tratamiento aún no está bien establecido, debido al desconocimiento general sobre su historia natural, e incluye desde un manejo conservador hasta el tratamiento quirúrgico. A continuación, se reporta el caso de un paciente con infarto agudo de miocardio y elevación del segmento ST, llevado a coronariografía que evidenció aneurisma de la coronaria derecha, que requirió trombectomía, angioplastia y manejo médico vitalicio ambulatorio.

Coronary artery aneurysms (CAA) are a rare entity with an incidence of 0.3-5.3%. They are dilations of 1.5 times larger than normal adjacent artery, with the right coronary artery as the most affected vessel. Its pathophysiology is unclear but atherosclerosis is believed to be the main cause. CAA are generally asymptomatic but can cause coronary ischemia. Its treatment is yet to be established due to general ignorance about its nature. It ranges from conservative management to surgery. In the following text, we report a case of a patient with acute myocardial infarction presenting ST-segment elevation, who showed a right coronary artery aneurysm in coronary angiography. The patient required thrombectomy, angioplasty and subsequent lifetime outpatient medical management.

Os aneurismas das artérias coronárias (AAC) são pouco comuns, com uma incidência de 0.3-5.3%. Se definem como uma dilatação 1.5 vezes maior ao diâmetro interno da artéria normal adjacente. A artéria coronária direita é a mais comumente afetada. Sua fisiopatologia é pouco clara, mas se crê que uma das suas principais causas é a aterosclerose. Os AAC são geralmente assintomáticos ou podem estar associados a isquemia miocárdica. Seu tratamento ainda não está bem estabelecido, devido ao desconhecimento geral sobre sua história natural, e inclui desde um manejo conservador até o tratamento cirúrgico. A continuação, se reporta o caso de um paciente com infarto agudo de miocárdio e elevação do segmento ST, levado a coronariografia que evidenciou aneurisma da coronária direita, que requereu trombectomia, angioplastia e manejo médico vitalício ambulatório.

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BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T) in the Costa Rican population, but the frequency of this mutation among local Batten disease patients remains incompletely characterized, as do clinical and demographic attributes for this rare patient population. OBJECTIVE: To describe the main sociodemographic and clinical characteristics of patients with a clinical diagnosis for Batten Disease treated at the National Children's Hospital in Costa Rica and to characterize via molecular testing their causative mutations. METHODS: DNA extracted from buccal swabs was used for CLN6 gene sequencing. Participants' sociodemographic and clinical characteristics were also obtained from their medical records. RESULTS: Nine patients with a clinical diagnosis of Batten disease were identified. Genetic sequencing determined the presence of the previously described Costa Rican homozygous mutation in 8 of 9 cases. One patient did not have mutations in the CLN6 gene. In all cases where the Costa Rican CLN6 mutation was present, it was accompanied by a substitution in intron 2. Patients were born in 4 of the 7 Costa Rican provinces, with an average onset of symptoms close to 4 years of age. No parental consanguinity was present in pedigrees. Initial clinical manifestations varied between patients but generally included: gait disturbances, language problems, visual impairment, seizures and psychomotor regression. Cortical and cerebellar atrophy was a constant finding when neuroimaging was performed. Seizure medication was a common element of treatment regimens. CONCLUSIONS: This investigation supports that the previously characterized c.214G > T mutation is the most common causative NCL mutation in the Costa Rican population. This mutation is geographically widespread among Costa Rican NCL patients and yields a clinical presentation similar to that observed for CLN6 NCL patients in other geographies.

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