Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations

Familial hypercholesterolemia is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case of severe hypercholesterolemia in a 5-year-old child found to have both familial hypercholesterolemia and sitosterolemia. The proband was diagnosed initially as familial hypercholesterolemia, but the lack of pathogenic variants with Sanger approach questioned this hypothesis. High levels of sitosterol established the diagnosis of sitosterolemia, genetically confirmed by an ABCG8 homozygous variant c.1974C>G/p. (Tyr658*). Next-generation sequencing re sequence for familial hypercholesterolemia genes revealed an APOB heterozygous functional variant (c.11477C>T/p. (Thr3826Met), in a region previously unstudied. The mother presented with the same genotype but a milder phenotype. Control of low-density lipoprotein cholesterol levels was only accomplished with dietary and therapeutic intervention for both sitosterolemia and familial hypercholesterolemia. The correct diagnosis of dyslipidemia is important to establish proper dietary and pharmacological intervention for atherosclerosis prevention.info:eu-repo/semantics/publishedVersio

Injury to the Superior Gluteal Artery during Intramedullary Fixation of a Proximal Femoral Fracture - A Case Report

Proximal femoral fractures represent a health problem of global proportions. Iatrogenic vascular lesion in the treatment of these fractures is an unusual potentially lethal complication, reported in only 0.2% of trochanteric fractures treated with intramedullary implants. Superior gluteal artery injury is extremely rare, with only two cases reported in literature.info:eu-repo/semantics/publishedVersio

Prevalence of iron deficiency anemia and iron deficiency in a pediatric population with inflammatory bowel disease

OBJECTIVES: Iron deficiency is the most common cause of anemia in children with inflammatory bowel disease, although the real prevalence is unknown. Intravenous iron is suggested as the first line treatment. This study aims to determine the prevalence of iron deficiency anemia in children with inflammatory bowel disease followed in a Pediatric Gastroenterology Unit of a tertiary center and to evaluate this unit's experience with intravenous iron. MATERIALS AND METHODS: A retrospective cohort study was designed involving children with inflammatory bowel disease followed in that unit between January 2001 and April 2016. Laboratory results were collected at the moment of diagnosis, after one-year follow-up and prior each IV iron administration performed during the study period. Anemia was defined according to World Health Organization criteria and the iron deficiency was defined using recent guidelines. RESULTS: Were studied 69 patients 71% had CD and 29% UC. 50.7% were female. Mean patient age at diagnosis was 13.3 years (range 1--17 years). Prevalence of ID and IDA at diagnosis was 76.8% and 43.5%, respectively. After one year follow-up, those values decreased to 68.1% (p=.182) and 21.7% (p=.002), respectively. Hemoglobin significantly increased (p<.001). Intravenous iron was administered to 92.8% of patients. No adverse reactions were reported. CONCLUSIONS: Intravenous iron is the first line in the treatment of Iron deficiency anemia in Inflammatory Bowel disease and it is safe and effective. Persistent anemia and iron deficiency are common.info:eu-repo/semantics/publishedVersio

Hypoglycemic and anti-lipemic effects of the aqueous extract from Cissus sicyoides

BACKGROUND: Cissus sicyoides (Vitaceae) is a medicinal plant popularly known in Brazil as "cipó-pucá, anil-trepador, cortina, and insulina". The plant is used in several diseases, including rheumatism, epilepsy, stroke and also in the treatment of diabetes. In the present work, we studied the hypoglycemic and anti-lipemic effects of the aqueous extract prepared from fresh leaves of the plant (AECS), in the model of alloxan-induced diabetes in rats. In addition, hepatic enzyme levels were also determined. RESULTS: Results showed that the daily treatment of diabetic rats with AECS for 7 days (100 and 200 mg/kg, p.o.) significantly decreased blood glucose levels in 25 and 22% respectively, as compared to the same groups before AECS treatment. No significant changes were seen in control diabetic rats before (48 h after alloxan administration) and after distilled water treatment. While no changes were seen in total cholesterol levels, a significant decrease was observed in plasma triglyceride levels, in the alloxan-induced diabetic rats after AECS treatment with both doses, as compared to the same groups before treatment. Significant decreases in blood glucose (25%) and triglyceride levels (48%) were also observed in the alloxan-induced diabetic rats after 4 days treatment with AECS (200 mg/kg, p.o.). Aspartate (AST) and alanine (ALT) aminotransferases levels, in diabetic controls and AECS-treated rats, were in the range of reference values presented by normal rats. CONCLUSIONS: The results justify the popular use of C. sicyoides, pointing out to the potential benefit of the plant aqueous extract (AECS) in alternative medicine, in the treatment of type 2 diabetes mellitus

Performance of a North American Field Population and a Laboratory Colony of the Potato Tuberworm, Phthorimaea operculella, on Foliage of Resistant and Susceptible Potato Clones

Foliar resistance of two potato clones was tested against a Columbia Basin field population (CBFP) and a Colorado laboratory colony (COLC) of the potato tuberworm, Phthorimaea operculella (Zeller) (Lepidoptera: Gelechiidae). The first clone was a cross of a cultivated potato, Solanum tuberosum L. (Solanales: Solanaceae), and a wild potato, Solanum berthaultii Hawkes (Q 174-2); the second clone was cv. Allegany, S. tuberosum L.. In no-choice assays, defoliation by P. operculella larvae of COLC and CBFP did not differ on Allegany and Q174-2. Larval weight and production of COLC and CBFP colonies were similarly reduced on Q174-2 compared to cv. Allegany, although larval weights and production of the CBFP population were slightly less affected by the host. Larval production by the COLC on Allegany was greater than that on Q174-2, while that of the CBFP on Allegany and Q174-2 did not differ. However, production of P. operculella larvae by the CBFP on Q174-2 during no-choice assays was greater than that in choice tests, indicating reduced host preference. Most of the larvae recovered from either host were fourth instars, followed by third instars. Although the levels of resistance expressed by Q174-2 potato clone to the two P. operculella populations differed in magnitude, nearly all of P. operculella performance criteria measured in this study were adversely affected by Q174-2 foliage compared to the commercial potato cultivar, cv. Allegany

Investigação de um sistema de alimentação em recém-nascidos prematuros a partir de estimulação gustativa

Objetivo: investigar a existência do sistema de alimentação em recém-nascidos prematuros a partir da estimulação gustativa. Métodos: estudo experimental, analítico, duplo-cego. Participaram 90 recém-nascidos prematuros, de uma maternidade pública de Sergipe. O teste foi filmado, constituindo-se por três momentos de cinco minutos. O primeiro e último momento sem realizar estímulo, o segundo momento com estimulação gustativa, sendo que os recém-nascidos foram divididos em dois grupos (água ou sacarose). Foram estudados os comportamentos específicos sucção de mão direita e esquerda, protrusão de língua e movimentos de sucção nos estados comportamentais sono profundo, sono leve, sonolento, agitado/irritado e choro. Para caracterizar a população foram utilizadas média, desvio-padrão e prevalências. Foi utilizado o teste não paramétrico Mann-Whitney para comparação de médias. O teste de Spearman verificou correlação entre estados comportamentais e comportamentos específicos em cada momento do teste. O valor de p foi significante quando menor que 0,05. Resultados: independente do estímulo administrado, a correlação aumentou em todos os comportamentos específicos. Comparando os grupos separadamente, após a estimulação, observou-se aumento de correlação em sucção de mão direita e protrusão de língua para ambos os grupos. O mesmo aconteceu em sucção, com exceção do estado agitado/irritado. Após a estimulação, houve maior correlação para o comportamento de sucção de mão esquerda no grupo sacarose quando comparado ao grupo água. Os resultados evidenciam que estímulos gustativos podem contribuir na prontidão para alimentação nesta população. Conclusões: evidenciou-se nos recém-nascidos prematuros aumento de correlação para os comportamentos específicos relacionados ao sistema de alimentação, após estimulação oral, o que vislumbra a possibilidade da estimulação gustativa ser utilizada para ativação de um sistema de alimentação em recém-nascidos prematuros. _________________________________________________________________________________________ ABSTRACT: Purpose: to investigate the existence of the alimentation system in premature newborns in response to gustatory stimulation. Methods: experimental, analytical, double-blind study. 90 premature newborns of a public maternity in Sergipe took part in the test which was filmed and divided into three parts of five minutes. In the first and last, there was no stimulus; in the second, the gustatory stimulation was applied and the newborn children were divided into two groups (water or sucrose). We studied the specific behaviors suction right and left hands, tongue protrusion and suction movements in behavioral states deep sleep, light sleep, drowsy, restless / irritable and crying. In the statistical analysis of the population, average, standard deviation and prevalence studies were performed. We used the non-parametric Mann-Whitney test to compare averages. The Spearman test observed correlation between behavioral states at each time of the test. The p value was significant when less than 0.05. Results: independent of the given stimulus, the correlation increased in all specific behaviors. Comparing the groups separately, after stimulation, we observed an increase in correlation in right hand suction and tongue protrusion for both. The same happened in suction, except for the agitated/irritated state. After stimulation, there was a higher correlation to the behavior of left hand suction in the sucrose group when compared to water. The results show that gustatory stimuli may contribute to the readiness to feed this population. Conclusions: it was found in premature newborns an increased in correlation for the specific behaviors related to the alimentation system after oral stimulation, which envisions the possibility of gustatory stimulation be used for activating a alimentation system in premature newborns

Short-term versus long-term changes in the benthic communities of a small coastal lagoon: implications for ecological status assessment

The characteristic high variability and low predictability of coastal lagoons, due to strong changes in marine and freshwater inputs, make these ecosystems an interesting casestudy. The small Melides landlocked coastal lagoon in SW Portugal is a paradigmatic example, with a biological community highly stressed by these phenomena. Benthic macroinvertebrate samples were collected in 1998/99 and 2009 and each year, in different seasons and addressing different environmental conditions influenced by the connection to the sea and rainfall regime. Major spatial and temporal patterns in benthic communities were investigated using some invertebrate attributes (e.g. community composition, density, species richness and diversity). A very low taxonomic species richness and diversity was found in the Melides lagoon and only a much reduced number of species occurred along all sampling periods and in both sampling campaigns. Although the colonization events play a crucial role, the persistence of the observed species was mainly associated to abiotic factors, such as salinity, temperature and dissolved oxygen. Despite the potential reduction in anthropogenic pressure, by the construction of a sewage treatment plant and a reduction of urban occupation, the ecological status did not improve and the high level of natural environmental variably in the lagoon seems to be the dominant stressor influencing benthic invertebrate communitie

Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer

<p>Abstract</p> <p>Background</p> <p><it>TP53 </it>is one of major tumour suppressor genes being essential in preservation of genome integrity. Two very common polymorphisms have been demonstrated to contribute to cancer susceptibility and tumour behaviour. The purpose of this study was to evaluate the role of <it>Arg72Pro </it>and <it>PIN3 Ins16bp </it>polymorphisms in <it>TP53 </it>gene as genetic susceptibility and predictive markers to breast cancer.</p> <p>Methods</p> <p>We analysed DNA samples from 264 breast cancer patients and 440 controls, for <it>TP53 Arg72Pro </it>and <it>PIN3 Ins16bp </it>polymorphisms using PCR-RFLP.</p> <p>Results</p> <p>We observed that women with <it>A2A2 </it>genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60–12.0; p = 0.004; OR = 3.88, 95% CI 1.18–12.8; p = 0.026, respectively). In haplotype analysis, statistically significant differences were found between <it>TP53 Arg-A2 </it>haplotype frequencies and familial breast cancer cases and the respective control group (OR = 2.10, 95% CI 1.08–4.06; p = 0.028). Furthermore, both <it>TP53 </it>polymorphisms are associated with higher incidence of lymph node metastases.</p> <p>Conclusion</p> <p>Our findings suggest <it>TP53 PIN3 Ins16bp </it>polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.</p