ABSTRACT Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders. syndrome wellknown well phenotype 1 BeckwithWiedemann Beckwith Wiedemann Spectrum ultrasounds 47 XY13 XY XY+13 heterotopia cytomegaly Still disorders 4 XY1 XY+1 XY+

ABSTRACT This research aimed to compare statistical methods (random forest, RIDGE, LASSO, and elastic net regression) for the prediction of body weight in purebred and crossbred pigs reared in Brazil. This prediction was based on dorsal-view images obtained from video image processing. The study involved 69 animals belonging to breeds such as Large White, Piau, Duroc × Large White, and Piau × Large White. The data collection spanned 144 days, with measurements taken at approximately 20-day intervals, totaling eight measurements for each animal throughout their growth stages. Image acquisition was carried out in individual pens using an Intel RealSense Depth D435 digital camera. The features back area, back perimeter, back width, and body depth were extracted from the images. Pearson’s correlation analysis was conducted to assess the relationship between live weight and these features. The dataset was randomly divided into a training dataset (65%) and a test dataset (35%), and model training was performed by five-fold cross-validation balanced according to the growth stage, which was divided into three groups. This procedure was repeated 100 times, and the resulting metrics were taken as the average of the 100 repetitions. Although with a slight difference, the random forest method outperformed the others with the highest average R2 value (0.87), as well as the lowest average RMSE (14.32) and average MAE (10.13) values. Consequently, the random forest algorithm proved to be the most effective in predicting body weight. The back area, back width, and back perimeter were the most important variables in the model. RIDGE LASSO regression Brazil dorsalview dorsal view processing 6 White 14 days 20day day 20 intervals stages D D43 camera area width Pearsons Pearson s 65% 65 (65% 35%, 35 35% , (35%) fivefold five fold crossvalidation cross validation stage groups 10 times repetitions difference R 0.87, 087 0.87 0 87 (0.87) 14.32 1432 32 (14.32 10.13 1013 13 (10.13 values Consequently 1 2 D4 (65 3 (35% 08 0.8 8 (0.87 14.3 143 (14.3 10.1 101 (10.1 (6 (35 0. (0.8 14. (14. 10. (10. ( (3 (0. (14 (10 (0 (1

ABSTRACT Sporotrichosis is the most frequent subcutaneous mycosis in Latin America. It is caused by species of the genus Sporothrix. Infection in humans occurs through the entry of the fungus into the skin. Zoonotic outbreaks involving cats in the transmission of the disease have been frequently reported. The lymphocutaneous form is the most commonly observed and the upper limbs are the most affected sites. We report a case of a 64-year-old healthy female patient with a lymphocutaneous form with rapid progression of lesions, which was refractory to initial treatment with itraconazole. Treatment with liposomal amphotericin B was performed with a satisfactory resolution, but aesthetic and functional sequelae in the left upper limb were installed. America Sporothrix skin reported sites 64yearold yearold 64 year old lesions itraconazole resolution installed 6

Abstract Copy number alterations (CNAs) are a frequent feature in human breast cancer, and one of the hallmarks of genomic instability. The FOSL1, GSTP1 and CCND1 genes are located at 11q13, a cytoband commonly affected by CNA in breast cancer, with relevant function in progression and invasion. Our main goal was to analyze CNAs of these genes and determine their association with breast cancer subtypes. Seventy-three cases of invasive breast tumors [52 Luminal, 7 HER2+ and 14 triple negative (TNBC) subtypes] were analyzed by TaqMan assays. CNAs were observed for all genes, with gains more frequently observed. Gains of the FOSL1 gene were observed in 71% of the cases. This gene was the only one with a statistically significant difference (p<0.001) among tumor subtypes, with increased copy number in TNBC compared to luminal and HER2+. No significant association of CNA and clinical and histopathological parameters from the patients was observed. Additional studies in larger breast cancer patient cohorts based on more refined molecular subtypes are necessary to confirm the observed association of FOSL1 gain with aggressive breast tumors phenotypes.

OBJECTIVES: To assess the expression of decidual natural killer (dNK) cells and their cytokines in twin pregnancies with preeclampsia. METHODS: This was a prospective case-control study. The inclusion criteria were diamniotic (monochorionic or dichorionic) twin pregnancies in the third trimester with negative serological results for infectious diseases; absence of major fetal abnormalities or twin-twin transfusion syndrome; and no history of administration of corticosteroids in this pregnancy. The control group (CG) included uncomplicated twin pregnancies, and the preeclampsia group (PEG) included twin gestations with clinical and laboratory confirmation of the disease according to well-established criteria. Samples of the decidua were obtained and analyzed by immunohistochemistry for the expression of dNK cells and interleukins (ILs) 10, 12 and 15. In addition, maternal serum samples were collected to determine the levels of these interleukins. RESULTS: Thirty twin pregnancies were selected: 20 in the control group (CG) and 10 in the preeclampsia group (PEG). The PEG showed strong placental immunostaining for IL-15 (p=0.001) and high maternal serum levels of IL-10 (22.7 vs. 11.9 pg/mL, p=0.024) and IL-15 (15.9 vs. 7.4 pg/mL, p=0.024). CONCLUSION: A higher maternal serum concentration of both pro- and anti-inflammatory factors was observed in the twin pregnancies in the PEG. However, no difference in placental expression of IL-10 was found between the groups. These findings may suggest that maternal attempts to balance these interleukins were not sufficient to cause a placental response, and this failure may contribute to the development of preeclampsia.

Resumo: A interação simbiótica entre fungos micorrízicos arbusculares (FMA) e 70-90% das espécies de plantas é amplamente estudada, mas fungos ectomicorrízicos, Piriformospora indica, Trichoderma sp. e “dark septate” endofíticos (DSE), também estabelecem interações benéficas com as plantas. Apesar disso, a discussão conjunta dos aspectos bioquímicos, fisiológicos e moleculares da transferência de nutrientes, principalmente do micélio extrarradicular (ERM) para a planta, ainda é limitada. O objetivo deste artigo de revisão é apresentar abordagens bioquímicas, fisiológicas e moleculares da interação planta-FMA, bem como analisar a resposta da planta à inoculação com diferentes fungos promotores de crescimento. Aqui se destacam as características de H+-ATPases e de transportadores de NH4+ e H2PO4- envolvidos com a absorção de fósforo e nitrogênio pelo solo através do ERM de FMA, assim como os aspectos bioquímicos do metabolismo de ambos os nutrientes no ERM e as suas translocações do ERM para o micélio intrarradicular e para a planta hospedeira. Finalmente, apresenta-se a eficiência de aproveitamento de fertilizantes nitrogenados em plantas com inoculação de FMA, Trichoderma sp., P. indica e fungos DSE. Ao se examinar, conjuntamente, os aspectos bioquímicos, fisiológicos e moleculares da interação planta-FMA e a eficiência de aproveitamento de fertilizantes nitrogenados em plantas inoculadas, é possível concluir que a agricultura de baixo uso de insumos poderia ser alcançada com o emprego desses fungos nos agrossistemas.

Abstract: The symbiotic interaction between arbuscular mycorrhizal fungi (AMF) and 70-90% of the plant species is largely studied, but ectomycorrhizal fungi, Piriformospora indica, Trichoderma sp., and dark septate endophytes (DSE), also establish beneficial interactions with plants. Despite this, the joint discussion on the biochemical, physiological, and molecular aspects of nutrient transfer, mainly from the extraradical mycelium (ERM) to the plant, is still limited. The objective of this review is to present biochemical, physiological, and molecular approaches to the plant-AMF interaction, as well as to analyze the response of plants to inoculations with different growth-promoting fungi. Here, are highlighted the characteristics of the H+-ATPases and of the transporters of NH4+ and H2PO4- involved in the absorption of phosphorus and nitrogen by the soil through the ERM of the AMF, besides the biochemical aspects of the metabolism of both nutrients in the ERM and their translocations from the ERM to the intraradical mycelium and to the host plant. Finally, the nitrogen fertilizer recovery efficiency in plants inoculated with AMF, Trichoderma sp., P.indica, and DSE fungi is presented. By examining, together, the biochemical, physiological, and molecular aspects of the plant-AMF interaction and the nitrogen fertilizer recovery efficiency in inoculated plants, it is possible to conclude that a low-input agriculture could be achieved with the use of these fungi in agrosystems.

RESUMO A doença de Gerstmann-Sträussler-Scheinker é uma doença priônica genética, cuja mutação mais frequente é p.Pro102Leu. Descrevem-se dados clínicos, moleculares e neuropatológicos de sete indivíduos em duas famílias não relacionadas com p.Pro102Leu. Diferenças notáveis entre os pacientes em relação à idade de início, duração da doença e apresentação clínica foram encontradas. Na primeira família, dois pacientes apresentaram demência rapidamente progressiva e três apresentaram fenótipo de ataxia com idade variáveis de início e duração da doença. Nesta família, a idade de início entre mãe e filha diferiu em 39 anos. Na segunda família, fenótipos diferentes foram observados e idades precoces de início dos sintomas foram associadas à heterozigose no códon 129. Não houve diferença em relação ao genótipo do gene da apoE. O genótipo do códon 129 não foi responsável pela variabilidade clínica; heterozigose no códon 129 esteve associada ao início precoce da doença. O exame neuropatológico em dois pacientes confirmou presença de placas típicas e imunohistoquímica para PrPsc.

ABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.

OBJECTIVE: The aim of the present study was to compare the placental weight and birth weight/placental weight ratio for intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. METHODS: This was a retrospective analysis of placentas from twin pregnancies. Placental weight and the birth weight/placental weight ratio were compared in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. The association between cord insertion type and placental lesions in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins was also investigated. RESULTS: A total of 105 monochorionic (intrauterine growth restriction=40; non-intrauterine growth restriction=65) and 219 dichorionic (intrauterine growth restriction=57; non-intrauterine growth restriction=162) placentas were analyzed. A significantly lower placental weight was observed in intrauterine growth-restricted monochorionic (p=0.022) and dichorionic (p<0.001) twins compared to non-intrauterine growth-restricted twins. There was no difference in the birth weight/placental weight ratio between the intrauterine growth restriction and non-intrauterine growth restriction groups for either monochorionic (p=0.36) or dichorionic (p=0.68) twins. Placental weight and the birth weight/placental weight ratio were not associated with cord insertion type or with placental lesions. CONCLUSION: Low placental weight, and consequently reduced functional mass, appears to be involved in fetal growth restriction in monochorionic and dichorionic twins. The mechanism by which low placental weight influences the birth weight/placental weight ratio in intrauterine growth-restricted monochorionic and dichorionic twins needs to be determined in larger prospective studies.

OBJECTIVE: To evaluate the association between the depth of trophoblastic infiltration and serum vascular endothelial growth factorconcentration in patients with an ampullary pregnancy. METHODS: This prospective cross-sectionalstudy involved 34 patients with an ampullary ectopic pregnancy who underwent salpingectomy between 2012 and 2013. Maternal serum vascular endothelial growth factor concentrations were measured using Luminex technology. Trophoblastic invasion was classified histologically as follows: stage I, limited to the tubal mucosa; stage II, reaching the muscle layer; and stage III,involving the full thickness. The qualitative data were compared using Fisher's exact test. The nonparametric Kruskal-Wallis and Mann-Whitney tests were used to evaluate differences in serum vascular endothelial growth factor among the degrees of trophoblastic invasion. ROC curves were constructed to determine vascular endothelial growth factor cut-off values that predict the degree of tubal invasion based on the best sensitivity and specificity. RESULTS: Eight patients had stage I trophoblastic invasion, seven had stage II, and 19 had stage III. The median serum vascular endothelial growth factorconcentration was 69.88 pg/mL for stage I, 14.53 pg/mL for stage II and 9.08 pg/mL for stage III, with a significant difference between stages I and III. Based on the ROC curve, a serum vascular endothelial growth factor concentration of 25.9 pg/mL best differentiated stage I from stages II and III with asensitivity of 75.0%, specificity of 76.9%, and area under the curve of 0.798. CONCLUSIONS: The depth of trophoblastic penetration into the tubal wall isassociated with serum vascular endothelial growth factor concentration in ampullary pregnancies.

Resumo Introdução: a vasculopatia trombótica fetal é uma alteração placentária recentemente descrita, com espectro variado de acometimento e, muitas vezes, associada a resultado perinatal adverso. Trata-se de diagnóstico histopatológico e, portanto, pós-natal, o que a torna um desafio para a prática clínica. Método: apresentação de um relato de caso e revisão da literatura. Resultados: o caso apresentado é de uma gestante com restrição do crescimento fetal, encaminhada tardiamente ao serviço, com histórico obstétrico ruim. Apesar da avaliação semanal da vitalidade fetal (perfil biofísico fetal e dopplervelocimetria) e dos cuidados pré-natais, o caso evoluiu a óbito fetal com 36 semanas e 1 dia. Não houve associação com trombofilias hereditárias e adquiridas. O anatomopatológico da placenta revelou vasculopatia trombótica fetal. Conclusão: sabe-se que a vasculopatia trombótica fetal pode estar associada a resultado perinatal adverso, incluindo óbito fetal. Ainda há muito a ser estudado acerca de sua etiopatogenia. Não é possível o diagnóstico durante a gestação e não existe ainda qualquer tratamento comprovado para essa condição. Estudos futuros são necessários para que estratégias que minimizem o impacto da vasculopatia trombótica fetal sejam desenvolvidas.

Summary Introduction: Fetal thrombotic vasculopathy is a recently described placental alteration with varying degrees of involvement and often associated with adverse perinatal outcomes. The diagnosis is made histologically and therefore is postnatal, which makes it a challenge in clinical practice. Method: Case report and review of literature on the subject. Results: The present case refers to a pregnant woman presenting fetal growth restriction, with poor obstetrical past, and sent late to our service. Even with weekly assessments of fetal vitality (fetal biophysical profile and Doppler velocimetry) and prenatal care, the patient progressed with fetal death at 36 weeks and 1 day. There was no association with inherited and acquired thrombophilia. Pathological examination of the placenta revealed fetal thrombotic vasculopathy. Conclusion: The fetal thrombotic vasculopathy may be associated with adverse perinatal outcomes including fetal death, but much remains to be studied regarding its pathogenesis. Diagnosis during pregnancy is not possible and there is still no proven treatment for this condition. Future studies are needed so that strategies can be developed to minimize the impact of fetal thrombotic vasculopathy.