Riverine forest as a significant habitat to harbor a wide range of bird species / Floresta ribeirinha como hábitat significativo para abrigo de uma gama de espécies de aves

Riverine forests are unique and highly significant ecosystems that are globally important for diverse and threatened avian species. Apart from being a cradle of life, it also serves as a gene pool that harbors a variety of flora and fauna species (repeated below). Despite the fact, this fragile ecosystem harbored avian assemblages; it is now disappearing daily as a result of human activity. Determining habitat productivity using bird species is critical for conservation and better management in the future. Multiple surveys were conducted over a 15-month period, from January to March 2019, using the distance sampling point count method. A total of 250 point count stations were fixed systematically at 300 m intervals. In total, 9929 bird individuals were recorded, representing 57 species and 34 families. Out of 57 bird species, two were vulnerable, one was data deficient, one was nearly threatened, and the remaining 53 species were of least concern. The Eurasian Collard Dove - Streptopelia decaocto (14.641 ± 2.532/ha), White-eared Bulbul - Pycnonotus leucotis (13.398 ± 4.342/ha) and Common Babbler - Turdoides caudata (10.244 ± 2.345/ha) were the three first plenteous species having higher densities. However, the densities of three species, i.e., Lesser Whitethroat - Sylvia curruca, Gray Heron - Ardea cinerea and Pallas Fish Eagle - Haliaeetus leucoryphus, were not analyzed due to the small sample size. The findings of diversity indices revealed that riverine forest has harbored the diverse avian species that are uniformly dispersed across the forest. Moreover, recording the ten foraging guilds indicated that riverine forest is rich in food resources. In addition, the floristic structure importance value index results indicated that riverine forest is diverse and rich in flora, i.e. trees, shrubs, weeds and grass, making it an attractive and productive habitat for bird species.

As florestas ribeirinhas são ecossistemas únicos e altamente significativos que são globalmente importantes para diversas espécies de aves ameaçadas de extinção. Além de serem o berço da vida, também servem como um conjunto genético que abriga uma variedade de espécies da flora e da fauna. Apesar disso, esse frágil ecossistema abrigava um conjunto de aves, mas agora está desaparecendo diariamente como resultado da atividade humana. Determinar a produtividade do hábitat usando espécies de pássaros é fundamental para a conservação e melhor gestão no futuro. Vários levantamentos foram realizados ao longo de um período de 15 meses, de janeiro de 2018 a março de 2019, por meio do método de contagem de pontos de amostragem de distância. Foram fixadas sistematicamente 250 estações de contagem de pontos em intervalos de 300 m. No total, foram registrados 9.929 indivíduos de aves, representando 57 espécies e 34 famílias. Das 57 espécies de aves, duas eram vulneráveis, uma tinha dados insuficientes, uma estava quase ameaçada e as 53 espécies restantes eram as menos preocupantes. O: Pomba de colar euroasiática - Streptopelia decaocto (14.641 ± 2.532/ha), o Bulbul de orelha branca - Pycnonotus leucotis (13.398 ± 4.342/ha) e Tagarela comum - Turdoides caudata (10.244 ± 2.345/ha) foram as três primeiras espécies abundantes com maiores densidades. No entanto, as densidades de três espécies, Papa-amoras-cinzento (Sylvia curruca), Garça-real-europeia (Ardea cinerea) e Águia-pescadora de Pallas (Haliaeetus leucoryphus), não foram analisadas por causa do pequeno tamanho da amostra. Os resultados dos índices de diversidade revelaram que a floresta ribeirinha abrigou diversas espécies de aves que estão uniformemente dispersas pela floresta. Além disso, o registro das dez guildas de forrageamento indicou que a floresta ribeirinha é rica em recursos alimentares. Além disso, os resultados do índice de valor de importância da estrutura florística indicaram que a floresta ribeirinha é variada e rica em flora, ou seja, árvores, arbustos, ervas daninhas e grama, tornando-a um hábitat atraente e produtivo para espécies de aves.

"Somos a terra lutando para sobreviver": histórias de vida de mulheres agroecologistas / "We are the earth struggling to survive": life stories of female agroecologists / "Somos la tierra luchando por sobrevivir": historias de vida de mujeres agroecólogas

A luta pela terra e seu uso incide na forma como as subjetividades têm sido produzidas no Brasil. No contexto capitalista, patriarcal e machista, vive-se um processo de exploração da mão de obra de mulheres e de recursos naturais da Terra. Este estudo objetivou conhecer histórias de vida de mulheres agricultoras rurais que participam de movimentos sociais agroecológicos no Rio Grande do Sul. Participaram do estudo três mulheres agricultoras, com idades entre 21 e 53 anos, residentes e trabalhadoras em zonas rurais das cidades de Viamão e Rolante, escolhidas por conveniência. Os instrumentos utilizados foram: questionário sociodemográfico, entrevista de história de vida e observação participante, os quais foram, posteriormente, submetidos à análise temática. Os resultados demonstram que as histórias de vida das mulheres relatadas são marcadas por lutas e formas de resistência. Para além das situações de conflitos e falta de recursos, avistam-se questões próprias de gênero, como a invisibilidade feminina e a desigualdade no acesso à terra por mulheres. A construção de base e o fortalecimento do papel político das mulheres nos movimentos sociais permite inferir que existem melhorias significativas nas desigualdades e injustiças no meio rural. Contudo, pontua-se a necessidade de se promover o diálogo entre os movimentos sociais, as mulheres e a sociedade política sobre os modelos atuais de políticas públicas existentes, possibilitando, assim, avançar nas discussões a respeito da promoção da equidade de gênero nos espaços rurais, bem como potencializar o avanço das práticas agroecológicas em direção à superação do capitalismo.(AU)

The struggle for land and its use affects the way subjectivities have been produced in Brazil. In the capitalist, patriarchal, and male-chauvinist context, women's labor and the Earth's natural resources are strongly exploited. This study aimed to know the life stories of female farmers who participate in agroecological social movements in the state of Rio Grande do Sul. Three female farmers, aged from 21 to 53, residents and workers in rural areas of the municipalities of Viamão and Rolante, chosen by convenience, participated in the study. The instruments used were: sociodemographic questionnaire, a life story interview, and participant observation, which were later subjected to thematic analysis. The results show that the participants' life stories are marked by struggles and means of resistance. In addition to conflicts and lack of resources, there are specific gender issues, such as female invisibility and inequality in women's access to land. The grassroots construction and the strengthening of the political role of women in social movements allow us to infer that there are significant improvements in inequalities and injustices in rural areas. However, it is necessary to promote dialogue between social movements, women, and political society about the current models of existing public policies, thus making it possible to advance in discussions about gender equity in rural spaces, as well as to enhance the advancement of agroecological practices to overcoming capitalism.(AU)

La lucha por la tierra y su uso afecta a la forma en que se han producido las subjetividades en Brasil. En el contexto capitalista, patriarcal y machista, hay un proceso de explotación del trabajo de las mujeres y de los recursos naturales de la tierra. Este estudio tuvo como objetivo conocer las historias de vida de agricultoras rurales que participan en movimientos sociales agroecológicos en Rio Grande do Sul (Brasil). Participaron en el estudio tres agricultoras, de entre 21 y 53 años, residentes y trabajadoras en áreas rurales de las ciudades de Viamão y Rolante, elegidas por conveniencia. Los instrumentos utilizados fueron: cuestionario sociodemográfico, entrevista de historia de vida y observación participante, cuyos datos posteriormente se sometieron a análisis temático. Los resultados muestran que las historias de vida de las mujeres relatadas están marcadas por luchas y formas de resistencia. A las situaciones de conflicto y falta de recursos se suman cuestiones específicas de género, como la invisibilidad femenina y la desigualdad en el acceso de las mujeres a la tierra. La construcción popular y el fortalecimiento del papel político de las mujeres en los movimientos sociales permiten inferir que hay mejoras significativas en las desigualdades e injusticias en las zonas rurales. Sin embargo, es necesario promover el diálogo entre los movimientos sociales, las mujeres y la sociedad sobre los modelos actuales de las políticas públicas existentes, para posibilitar avances en las discusiones sobre la promoción de la equidad de género en los espacios rurales y potenciar el avance de las prácticas agroecológicas hacia la superación del capitalismo.(AU)

Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume / 中华医学杂志(英文版)

BACKGROUND@#Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV).@*METHODS@#We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.@*RESULTS@#We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P  = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P  = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.@*CONCLUSION@#Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.

The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis

SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition.

Analysis of the population structure of a cattle conservation nucleus Curraleiro Pé Duro / [Análise da estrutura populacional de um núcleo de conservação de bovino Curraleiro Pé Duro]

The objective of this research was to study the population structure of the Cattle Conservation Nucleos Curraleiro Pé Duro of the Instituto Nacional do Semiárido (NCP_INSA) based on pedigree data. Genealogical information from 338 animals registered in the period from 1991 to 2019 was used. The number of founding animals (Nf), the effective number of founders (fe), effective number of ancestors (fa), inbreeding coefficient (F), and average relatedness coefficient (AR), in addition to Fis, Fit and Fst were estimated. It was possible to identify ancestors up to the third generation, with an increase in information over the generations. Of the total pedigree information evaluated, 90.53% had the identification of the father and mother. The effective size of the population was smaller than those proposed by FAO, suggesting the need to redefine the herd management and genetic management plan strategies, promoting gene flow and breed expansion.(AU)

O objetivo com essa pesquisa foi estudar a estrutura populacional do Núcleo de Conservação de Bovinos Curraleiro Pé-Duro (NCP) do Instituto Nacional do Semiárido (INSA), por meio de dados de pedigree. Utilizaram-se informações genealógicas de 338 animais registrados no período de 1991 a 2019. Foi estimado o número de animais fundadores (Nf), o número efetivo de fundadores (fe), o número efetivo de ancestrais (fa), o coeficiente de endogamia (F) e o coeficiente de parentesco médio (AR), além do Fis, Fit e Fst. Foi possível identificar ancestrais até a terceira geração, com aumento crescente das informações ao longo das gerações. Do total de informações avaliadas, 90,53% possuíam identificação do pai e da mãe. O tamanho efetivo da população foi inferior ao mínimo proposto pela FAO, o que sugere a necessidade de redefinir as estratégias do plano de gestão e de manejo genético do rebanho, de modo a promover fluxo gênico e expansão da raça.(AU)

Genetic and morphological characterization of traditional rice and bean varieties from the Pantanal of Mato Grosso, Brazil / Caracterização genética e morfológica de arroz e feijão do Pantanal mato-grossense, Brasil

Farmers from the district of São Pedro de Joselândia, belonging to the municipality of Barão de Melgaço, Pantanal of Mato Grosso, have been cultivating for some time two rice plant materials and three types of beans that, according to them, are not commercial. For this reason, the objective of this work was to test the originality of the materials by means of genetic and morphological characterization in order to identify whether the nature of the subsamples would be effectively traditional or whether they are varieties already known in the market. Morphological analyzes of the cultivated plants (phenotypic characteristics, cycle and flowering) and seed of the rice subsamples, hereinafter called Agulhinha Vermelho and Branquinho and of the Amarelinho, Rosinha and Roxinho subsamples were performed. Also, the evaluation of distribution of comparative genetic variability with other materials of the same species, already cataloged, was determined. The subsamples were characterized as traditional varieties different from those already cataloged and they are not found in the Nuclear Collection of Rice and Beans of the Brazilian Agricultural Research Corporation (Embrapa). They have distinct morphological characteristics, being potential species for use in the market of new technologies. This should guarantee to the residents of that community that they are breeders of specific materials of cultural heritage adapted to the local conditions.

Agricultores do distrito de São Pedro de Joselândia, pertencente ao município de Barão de Melgaço ­ Pantanal Norte do estado de Mato Grosso, vêm cultivando há tempos dois materiais vegetais de arroz e três materiais de feijão que, segundo os mesmos, não são comerciais. Por essa razão, com este trabalho o objetivo foi realizar a caracterização genética e morfológica desses materiais a fim de identificar se a natureza das subamostras seria efetivamente tradicional, ou se trataria de variedades conhecidas no mercado e descrever suas características. Foram realizadas análises morfológicas das plantas cultivadas (características fenotípicas, ciclo e florescimento) e de sementes das subamostras de arroz, doravante denominadas Agulhinha vermelho e Branquinho e das subamostras de feijão Amarelinho, Rosinha e Roxinho. Ainda, determinou-se a avaliação de distribuição de variabilidade genética comparativa com demais materiais das mesmas espécies, já catalogados. Observou-se que as subamostras foram caracterizadas como variedades tradicionais, diferentes daquelas já catalogadas e que não se encontram na Coleção Nuclear de Arroz e Feijão da Embrapa. As mesmas possuem características morfológicas distintas, podendo ser materiais com potencial para o uso no mercado de novas tecnologias, o que deve garantir aos moradores da comunidade, serem obtentores de materiais específicos e adaptado às condições locais.

Expresión clínica de distrofia miotónica congénita / Clinical expression of congenital myotonic dystrophy

Introducción: La distrofia miotónica congénita es la forma clínica que produce la expresión fenotípica más grave, con alta morbilidad y mortalidad en los primeros meses de vida, dadas fundamentalmente por las complicaciones respiratorias. Objetivo: Describir una serie de casos con expresión clínica de distrofia miotónica congénita. Presentación de casos: La serie estaba conformada por cuatro pacientes con diagnóstico de la enfermedad en la provincia de Pinar del Río, Cuba. El estudio se realizó entre: enero de 2015-diciembre de 2019. Se revisaron las características clínicas, epidemiológicas y genéticas de la entidad. Se analizaron los antecedentes prenatales-perinatales de cada caso, las manifestaciones fenotípicas, los antecedentes familiares y el cálculo de la prevalencia. En el 100 por ciento de los casos se presentó parto pretérmino con depresión neonatal severa e hipotonía. Entre los antecedentes prenatales se describió la disminución de los movimientos fetales y el polihidramnios en el 75 y 50 por ciento de los casos, respectivamente. La totalidad de los pacientes eran descendientes de madres afectadas. Las principales complicaciones que condujeron a morbilidad y mortalidad en el 100 por ciento de los casos fueron las relacionadas con el sistema respiratorio, trastornos hidroelectrolíticos y las infecciones asociadas. Conclusiones: En el período neonatal son importantes los antecedentes prenatales-perinatales de los pacientes con distrofia miotónica. Estos antecedentes, constituyen acontecimientos que forman parte de la secuencia de hipoquinesia fetal dada por la afectación neuromuscular intraútero. Los antecedentes familiares y sobre todo cuando la madre está afectada conducen a expresiones severas en la descendencia(AU)

Introduction: Congenital myotonic dystrophy is a clinical form that produces the most severe phenotypic expression, with high morbility and mortality in the first months of life mainly due to respiratory complications. Objective: To describe a serie of cases with clinical expression of congenital myotonic dystrophy. Cases presentation: The serie was formed by 4 patients with diagnosis of the disease in Pinar del Río province, Cuba. The study was made from January, 2015 to December, 2019. There were reviewed the clinical, epidemiological and genetic characteristics of this entity. There were analyzed prenatal and perinatal backgrounds of each case, phenotypic manifestations, the family records and the prevalence calculations. In 100 percent of the cases it was presented preterm birth with severe neonatal depression and hypotonia. Among the prenatal backgrounds, it was described the decrease of the fetal movements and polyhydramnios in the 75 and 50 percent of the cases, respectively. All the patients were descendants of affected mothers. The main complications that led to morbility and mortality in 100 percent of the cases were the ones related with the respiratory system, hydrolectrolitic disorders and associated infections. Conclusions: In the neonatal period are important the prenatal-perinatal records of patients with myotonic dystrophy. This background shows events that are part of the fetal hypokinesia´s sequence caused by intrauterine neuromuscular affectation. Family background and especially when the mother is affected lead to severe expressions in the descendants(AU)

Patrón de agregados de cáncer entre familias en Irak / Cancer Aggregates Pattern among Families in Iraq

Breast cancer is first ranking malignancies in Iraq. Family history of cancer is an important factor for cancer occurrence and development in next generation. The study aimed to determine the validity of family history of cancer by population-based and clinic-based family registries, evaluate the concurrence of cancer affected by family history in their first-, and second-degree relatives. An observational studies of total 62 relatives membered of 44 Iraqi breast cancer families were included. We conducted study at period between December 2018 and June 2019. Data collected according NCCN Genetic Testing Criteria for Hereditary Breast and Ovarian Cancer Syndrome. Risk ratio (RR) used to evaluating predilection of family cancer risk. We addressed forty-four Iraqi breast cancer families who have sixty-two members with cancer. The age mean±SD was 51.8±12.6, and median=48.5 years. Meanwhile the age mean±SD= 51.6±11.9 years for relatives. M:F ratio equal to 3:1. Sister, mother and aunt/uncle were most common relative affected. Breast cancer represented the most frequent types found in 46.7% of patients. Mothers (RR=1.313), and/or sisters (RR=1.6), lead to increased risk of cancer development in other family members or next generation. The first degree relatives recorded more than the second degree relatives. This is the first study conducting in Iraq dealing with cancer risk at the level of families. The age of patients didn't differ from age at diagnosis, concluding there is no active screening programs run through Iraqi families. Sister, mother and aunt/uncle are the most relatives affect. The 1st-degree relatives more frequent than the 2nd-degree. Breast cancer represented the most common types found members studied. Mothers and sisters have highly risk ratio for developing family cancer among other individuals.

Interaction of genetic background and exercise training intensity on endothelial function in mouse aorta

The purpose of this study was to characterize the genetic contribution to endothelial adaptation to exercise training. Vasoreactivity was assessed in aortas from four inbred mouse strains (129S1, B6, NON, and SJL) after 4 weeks of moderate intensity continuous exercise training (MOD), high intensity interval training (HIT) or in sedentary controls (SED). Intrinsic variations in endothelium-dependent vasorelaxation (EDR) to acetylcholine (ACh) as well as vasocontractile responses were observed across SED groups. For responses to exercise training, there was a significant interaction between mouse strain and training intensity on EDR. Exercise training had no effect on EDR in aortas from 129S1 and B6 mice. In NON, EDR was improved in aortas from MOD and HIT compared with respective SED, accompanied by diminished responses to PE in those groups. Interestingly, EDR was impaired in aorta from SJL HIT compared with SED. The transcriptional activation of endothelial genes was also influenced by the interaction between mouse strain and training intensity. The number of genes altered by HIT was greater than MOD, and there was little overlap between genes altered by HIT and MOD. HIT was associated with gene pathways for inflammatory responses. NON MOD genes showed enrichment for vessel growth pathways. These findings indicate that exercise training has non-uniform effects on endothelial function and transcriptional activation of endothelial genes depending on the interaction between genetic background and training intensity.

The Role of Two Human Milk Oligosaccharides, 2′-Fucosyllactose and Lacto-N-Neotetraose, in Infant Nutrition / 대한소아소화기영양학회지

Human breast milk contains numerous biomolecules. Human milk oligosaccharides (HMOs) are the third most abundant component of breast milk, after lactose and lipids. Amongst the synthetized HMOs, 2′-fucosyllactose (2′-FL) and lacto-N-neotetraose (LNnT) are widely studied and are considered safe for infant nutrition. Several studies have reported the health benefits of HMOs, which include modulation of the intestinal microbiota, anti-adhesive effect against pathogens, modulation of the intestinal epithelial cell response, and development of the immune system. The amount and diversity of HMOs are determined by the genetic background of the mothers (HMO secretors or non-secretors). The non-secretor mothers secrete lower HMOs than secretor mothers. The breastfed infants of secretor mothers gain more health benefit than those of non-secretor mothers. In conclusion, supplementation of infant formula with 2′-FL and LNnT is a promising innovation for infant nutrition.

Genetic Variability of Methicillin Resistant Staphylococcus Aureus Strains Isolated from Burns Patients

OBJECTIVES: Staphylococcus aureus is a nosocomial pathogen that provides a major challenge in the healthcare environment, especially in burns units where patients are particularly susceptible to infections. In this study, we sought to determine molecular types of S. aureus isolates collected from burns patients, based on staphylococcal protein A and coagulase gene polymorphisms. METHODS: Antibiotic susceptibility testing of 89 S. aureus strains isolated from burn wounds of patients was assessed using the Kirby-Bauer disk diffusion method. Strains were characterized by spa typing, coa typing, and resistance and toxin gene profiling. RESULTS: A total of 12 different spa types were identified with the majority being t790 (18%). Panton-Valentine leucocidin encoding genes were identified in spa types t044 (5.6%), t852 (2.2%) and t008 (2.2%). The most commonly detected antibiotic resistance gene was ant (4′)-Ia (60.7%). Ten different coa types were detected and the majority of the tested isolates belonged to coa III (47.2%). All the high-level mupirocin-resistant and low-level mupirocin resistant strains belonged to coa type III. CONCLUSION: The present study illustrated that despite the high frequency of coa III and spa t790 types, the genetic background of S. aureus strains in Iranian burns patients was diverse. The findings obtained are valuable in creating awareness of S. aureus infections within burns units.

Epithelial-microbial diplomacy: escalating border tensions drive inflammation in inflammatory bowel disease

Inflammatory bowel diseases (IBD) are chronic conditions of the gastrointestinal tract-the main site of host-microbial interaction in the body. Development of IBD is not due to a single event but rather is a multifactorial process where a patient's genetic background, behavioral habits, and environmental exposures contribute to disease pathogenesis. IBD patients exhibit alterations to gut bacterial populations “dysbiosis” due to the inflammatory microenvironment, however whether this alteration of the gut microbiota precedes inflammation has not been confirmed. Emerging evidence has highlighted the important role of gut microbes in developing measured immune responses and modulating other host responses such as metabolism. Much of the work on the gut microbiota has been correlative and there is an increasing need to understand the intimate relationship between host and microbe. In this review, we highlight how commensal and pathogenic bacteria interact with host intestinal epithelial cells and explore how altered microenvironments impact these connections.

Familial Pancreatic Cancer and Surveillance of High-Risk Individuals

Family history of pancreatic cancer (PC) is a risk factor for PC development, and the risk level correlates with the number of affected families. A case of PC with ≥1 PC cases in the first-degree relative is broadly defined as familial pancreatic cancer (FPC) and accounts for 5% to 10% of total PC cases. FPC possesses several epidemiological, genetic and clinicopathological aspects that are distinct from those of conventional PCs. In Western countries, FPC registries have been established since the 1990s, and high-risk individuals are screened to detect early PCs. For the pharmacotherapy of FPC, especially in cases with germline pathogenic BRCA mutations, regimens using platinum and poly (ADP-ribose) polymerase inhibitor have recently been studied for their effectiveness. To date, the concept of FPC has prevailed in Western countries, and it has begun to infiltrate into Eastern countries. As the genetic background and environmental conditions vary in association with ethnicity and living area, we need to establish our own FPC registries and accumulate data in Asian countries.

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD in Korean patients is limited. To our knowledge, this is the first comprehensive molecular genetic investigation of Korean patients with VWD. METHODS: Twenty-two unrelated patients with VWD were recruited from August 2014 to December 2017 (age range 28 months–64 years; male:female ratio 1.2:1). Fifteen patients had type 1, six had type 2, and one had type 3 VWD. Blood samples were collected for coagulation analyses and molecular genetic analyses from each patient. Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed. In patients without sequence variants, multiplex ligation-dependent probe amplification (MLPA) was performed to detect dosage variants. We adapted the American College of Medical Genetics and Genomics guidelines for variant interpretation and considered variants of uncertain significance, likely pathogenic variants, and pathogenic variants as putative disease-causing variants. RESULTS: VWF variants were identified in 15 patients (68%): 14 patients with a single heterozygous variant and one patient with two heterozygous variants. The variants consisted of 13 missense variants, one small insertion, and one splicing variant. Four variants were novel: p.S764Efs*16, p.C889R, p.C1130Y, and p.W2193C. MLPA analysis in seven patients without reportable variants revealed no dosage variants. CONCLUSIONS: This study revealed the spectrum of VWF variants, including novel ones, and limited diagnostic utility of MLPA analyses in Korean patients with VWD.

Intervención educativa sobre prevención de cardiopatías congénitas en mujeres en edad fértil, consultorios médicos 8 y 9. Policlínico Samuel Fernández. Municipio de Matanzas; 2015-2016 / Educative intervention on congenital heart diseases prevention in fertile aged women. Medical Consultations 8 and 9. Policlinic "Samuel Fernández". Municipality of Matanzas; 2015-2016

Introducción: las cardiopatías congénitas son los defectos más frecuentes y primera causa de muerte en menores de un año, su etiología es multifactorial y los factores de riesgo diversos y muchos prevenibles. Objetivo: implementar un programa educativo para el desarrollo de conocimientos sobre prevención de cardiopatías congénitas en mujeres en edad fértil de dos consultorios médicos del Policlínico Docente "Samuel Fernández "del municipio Matanzas, entre enero 2015 a marzo 2016. Material y métodos: se realizó un estudio de intervención, se diagnosticó el nivel de conocimientos y necesidades educativas sentidas a través de un cuestionario al universo de mujeres en edad fértil de los consultorios médicos declarados. Para determinar la existencia de asociación entre ambas variables, se calculó el Chi cuadrado, para una confiabilidad de 99%. Se aplicó la prueba de la t de Student para comparar las medias aritméticas de la variable conocimiento antes y después de la intervención, para una confiabilidad de 99%. Resultados: el nivel de conocimiento de las féminas fue regular y las necesidades educativas sentidas altas antes de la intervención, modificándose a bien después de implementada la misma, con diferencias estadísticamente altamente significativas. Conclusiones: Se comprueba la eficacia del producto elaborado al constatarse el desarrollo de conocimientos sobre el tema (AU).

Introduction: congenital heart diseases are the most frequent defects and the first cause of death in children aged less than a year. Its etiology is multifactorial and the risk factors are diverse and many of them preventable. Objective: to put into practice an educative program for the development of knowledge on congenital heart diseases in fertile aged women from two medical consultations of the Teaching Policlinic "Samuel Fernández", municipality of Matanzas, from January 2015 to March 2016. Materials and methods: an intervention was carried out. It was diagnosed the level of knowledge and the educative necessities using an questionnaire filled in by the universe of fertile aged women from the declared medical consultations. To determine the existence of association between both variables chi-square was calculated for a reliability of 99 %. The T student test was applied to compare the arithmetic average of knowledge variable before and after the intervention, for a 99 % of reliability. Results: the women´s level of knowledge was regular and the perceived educative necessities were high before the intervention; the level of knowledge turned to good after the intervention, with significantly high statistical differences. Conclusions: the efficacy of the elaborated product was proved when development of knowledge on the theme was stated (AU).

Investigation into the Possible Genetic Role of Serotonin and Dopamine Transporters in Psychological Resilience

OBJECTIVES: Psychological resilience is the ability to cope with stress. The genetic background behind psychological resilience is not much known. The serotonin transporter and dopamine transporter are implicated in stress related psychology and emotional processing. The aim of this study is to investigate a possible genetic role of functional polymorphisms of serotonin and dopamine transporters for psychological resilience. METHODS: A total of 951 healthy adult subjects were included. Psychological resilience was measured using Connor-Davidson Resilience Scale (CD-RISC). Genotyping was performed for serotonin transporter gene (SERT) promoter variable number tandem repeat (VNTR) and dopamine transporter gene (DAT1) 3'-untranslated region (UTR) VNTR. Genetic association analysis was conducted between genotypes and the CD-RISC score. RESULTS: No genetic association was observed for SERT promoter VNTR or DAT1 3'-UTR VNTR with CD-RISC score. No genetic interaction between SERT promoter VNTR and DAT1 3'-UTR VNTR with CD-RISC score was detected. CONCLUSIONS: Either serotonin or dopamine transporter did not seem to play a significant role for psychological resilience in this sample.

The Effect of Microbiota on Colon Carcinogenesis

Although genetic background is known to contribute to colon carcinogenesis, the exact etiology of the disease remains elusive. The organ’s extensive interaction with microbes necessitated research on the role of microbiota on development of colon cancer. In this review, we summarized the defense mechanism of colon from foreign organism, and germ-free animal models that have been employed to elucidate microbial effect. We also comprehensively discussed the metabolic property of microbiota such as butyrate production, facilitation of heme toxicity, bile acid transformation, and nitrate reduction that has been shown to contribute to the development of the tumor. Finally, up-to-date subjects such as the effect of age and gender on microbiota are briefly discussed.

First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

Pharmacological Intervention for the Prevention of Diabetes Mellitus / 임상당뇨병

Diabetes mellitus is rapidly increasing worldwide, especially in Africa and Asia. According to the Diabetes Fact Sheet in Korea 2018, the prevalence of diabetes in adults 30 years and older is 14.4% (5.01 million), indicating that nearly 1 in 7 Korean adults have diabetes. Another approximately 25% of adults 30 years and older (8.71 million people) have impaired fasting glucose, so-called “prediabetes.” Thus, 1 in 3 adults are diabetic or at risk for diabetes. The diabetic population is expected to reach approximately 6 million in 2050, representing two-fold growth over the next 40 years. Although the etiology of diabetes mellitus is multifactorial, obesity is suspected to be a main factor for the increasing prevalence in Korea. The average body mass index of diabetics is around 25 kg/m². Prevention is the best way to decrease the global burden of diabetes. Many trials on the prevention of type 2 diabetes mellitus (T2DM) have been performed. Lifestyle modification is one of the most powerful strategies for the prevention of T2DM, but medications are believed to be effective in certain populations. These preventive effects can vary according to ethnicity, sex, and genetic background. Although there is little evidence of potential pharmacotherapy for diabetes prevention in Korea, this lecture will review available medications in the context of T2DM prevention.