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1.
New Phytol ; 242(4): 1436-1440, 2024 May.
Article in English | MEDLINE | ID: mdl-38594221

ABSTRACT

Global assessments of mycorrhizal symbiosis present large sampling gaps in rich biodiversity regions. Filling these gaps is necessary to build large-scale, unbiased mycorrhizal databases to obtain reliable analyses and prevent misleading generalizations. Underrepresented regions in mycorrhizal research are mainly in Africa, Asia, and South America. Despite the high biodiversity and endemism in these regions, many groups of organisms remain understudied, especially mycorrhizal fungi. In this Viewpoint, we emphasize the importance of inclusive and collaborative continental efforts in integrating perspectives for comprehensive trait database development and propose a conceptual framework that can help build large mycorrhizal databases in underrepresented regions. Based on the four Vs of big data (volume, variety, veracity, and velocity), we identify the main challenges of constructing a large mycorrhizal dataset and propose solutions for each challenge. We share our collaborative methodology, which involves employing open calls and working groups to engage all mycorrhizal researchers in the region to build a South American Mycorrhizal Database. By fostering interdisciplinary collaborations and embracing a continental-scale approach, we can create robust mycorrhizal trait databases that provide valuable insights into the evolution, ecology, and functioning of mycorrhizal associations, reducing the geographical biases that are so common in large-scale ecological studies.


Subject(s)
Mycorrhizae , Symbiosis , Biodiversity , Databases, Factual , Mycorrhizae/physiology , Quantitative Trait, Heritable
2.
Mycorrhiza ; 34(1-2): 1-18, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38512497

ABSTRACT

Mycorrhizal symbioses (mycorrhizas) of Ericaceae, including ericoid mycorrhiza (ErM), have been mainly studied in the Northern Hemisphere, although the highest diversity of ericaceous plants is located in the Southern Hemisphere, where several regions remain largely unexplored. One of them is South America, which harbors a remarkably high diversity of Ericaceae (691 species and 33 genera) in a wide range of environmental conditions, and a specific mycorrhizal type called cavendishioid. In this review, we compile all available information on mycorrhizas of Ericaceae in South America. We report data on the mycorrhizal type and fungal diversity in 17 and 11 ericaceous genera, respectively. We show that South American Ericaceae exhibit a high diversity of habitats and life forms and that some species from typical ErM subfamilies may also host arbuscular mycorrhiza. Also, a possible geographical pattern in South American ErM fungal communities is suggested, with Sebacinales being the dominant mycorrhizal partners of the Andean clade species from tropical mountains, while archetypal ErM fungi are common partners in southern South America species. The gathered information challenges some common assumptions about ErM and suggests that focusing on understudied regions would improve our understanding of the evolution of mycorrhizal associations in this intriguing family.


Subject(s)
Ericaceae , Mycorrhizae , Mycorrhizae/genetics , Ericaceae/microbiology , Plant Roots/microbiology , Symbiosis , South America
3.
Plants (Basel) ; 13(2)2024 Jan 09.
Article in English | MEDLINE | ID: mdl-38256729

ABSTRACT

The negative impacts of climate change on native forest ecosystems have created challenging conditions for the sustainability of natural forest regeneration. These challenges arise primarily from abiotic stresses that affect the early stages of forest tree development. While there is extensive evidence on the diversity of juvenile microbial symbioses in agricultural and fruit crops, there is a notable lack of reports on native forest plants. This review aims to summarize the critical studies conducted on the diversity of juvenile plant-microbe interactions in forest plants and to highlight the main benefits of beneficial microorganisms in overcoming environmental stresses such as drought, high and low temperatures, metal(loid) toxicity, nutrient deficiency, and salinity. The reviewed studies have consistently demonstrated the positive effects of juvenile plant-microbiota interactions and have highlighted the potential beneficial attributes to improve plantlet development. In addition, this review discusses the beneficial attributes of managing juvenile plant-microbiota symbiosis in the context of native forest restoration, including its impact on plant responses to phytopathogens, promotion of nutrient uptake, facilitation of seedling adaptation, resource exchange through shared hyphal networks, stimulation of native soil microbial communities, and modulation of gene and protein expression to enhance adaptation to adverse environmental conditions.

5.
Rev. Fac. Med. Hum ; 22(4): 841-856, octubre-diciembre 2022.
Article in English, Spanish | LILACS-Express | LILACS | ID: biblio-1402040

ABSTRACT

Heart disease is the cause of sudden death in more than 80% of cases. Ischemic heart disease is the cause for 90% of all sudden cardiac deaths, while in the remaining 10% of cases, heart diseases have a hereditary origin and comprise a wide spectrum of disorders that include cardiomyopathies and channelopathies. The aim of this review is to highlight the importance of genetic counseling for patients with hereditary cardiovascular disease and its evaluation by a multidisciplinary team.


La cardiopatía es la causa de muerte súbita en más del 80% de casos. La cardiopatía isquémica es responsable en el 90% del total de las muertes súbitas cardiacas, mientras que en el 10% de casos restantes, las cardiopatías tienen un origen hereditario y comprenden un amplio espectro de trastornos que incluyen a las cardiomiopatías y las canalopatías. El objetivo de esta revisión es poner en evidencia la importancia del asesoramiento genético de los pacientes con enfermedad cardiovascular hereditaria y su evaluación a través de un equipo multidisciplinario.

6.
Rev. Fac. Med. Hum ; 22(3): 597-613, julio-Septiembre 2022.
Article in English, Spanish | LILACS-Express | LILACS | ID: biblio-1381884

ABSTRACT

El cáncer de próstata es, desde el punto de vista molecular, biológicamente heterogéneo debido a la diversidad de alteraciones moleculares inter e intratumorales, siendo además un proceso genómico dinámico y evolutivo. Con el desarrollo de nuevas técnicas moleculares, como el secuenciamiento génico, microarreglos, estudios epigenenómicos, entre otros, se ha podido caracterizar molecularmente al cáncer de próstata, encontrándose diferencias incluso entre los diferentes estadíos de la enfermedad.


To understand the term genomic heterogeneity in prostate cancer, we must understand the clonal genomic evolution of cancer, as well as knowing that it is a dynamic and evolutionary phenomenon. Knowing the genome of prostate cancer not only allows us to have a vision over time of the genomic alterations that occur during its different stages, but also to learn about the mechanisms of metastasis. In addition, knowing the hereditary component of prostate cancer allows the evaluation of patients and to be able to identify if we are dealing with a family at risk.

7.
Front Plant Sci ; 13: 804839, 2022.
Article in English | MEDLINE | ID: mdl-35432425

ABSTRACT

Red-banded stink bug Piezodorus guildinii (P. guildinii) has been described as the most damaging stink bug regarding soybean crops, leading to seed injury, low germination percentages, and foliar retention, at low population densities. In recent years, RNA interference (RNAi), a conserved eukaryote silencing mechanism has been explored to develop species-selective pesticides. In this work, we evaluated RNAi in P. guildinii to develop new pest-control strategies. For this, we assembled and annotated a P. guildinii transcriptome from a pool of all developmental stages. Analysis of this transcriptome led to the identification of 56 genes related to the silencing process encompassing siRNA, miRNA, and piRNA pathways. To evaluate the functionality of RNAi machinery, P. guildinii adults were injected with 28 ng/mg of body weight of double stranded RNA (dsRNA) targeting vATPase A. A mortality of 35 and 51.6% was observed after 7 and 14 days, respectively, and a downregulation of vATPase A gene of 84% 72 h post-injection. In addition, Dicer-2 and Argonaute-2 genes, core RNAi proteins, were upregulated 1.8-fold 48 h after injection. These findings showed for the first time that RNAi is functional in P. guildinii and the silencing of essential genes has a significant effect in adult viability. Taken together, the work reported here shows that RNAi could be an interesting approach for the development of red-banded stink bug control strategies.

8.
Rev Fac Cien Med Univ Nac Cordoba ; 79(1): 53-56, 2022 03 07.
Article in English | MEDLINE | ID: mdl-35312250

ABSTRACT

INTRODUCTION: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes. METHODS: We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast. RESULTS: We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM. CONCLUSION: In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling.


Subject(s)
Breast Neoplasms , Acid Anhydride Hydrolases/genetics , Ataxia Telangiectasia Mutated Proteins/genetics , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , DNA-Binding Proteins/genetics , Female , Genetic Counseling , Humans , Middle Aged , Mutation , Peru
9.
Ann Bot ; 129(3): 259-270, 2022 02 11.
Article in English | MEDLINE | ID: mdl-34718377

ABSTRACT

BACKGROUND: As in most land plants, the roots of orchids (Orchidaceae) associate with soil fungi. Recent studies have highlighted the diversity of the fungal partners involved, mostly within Basidiomycotas. The association with a polyphyletic group of fungi collectively called rhizoctonias (Ceratobasidiaceae, Tulasnellaceae and Serendipitaceae) is the most frequent. Yet, several orchid species target other fungal taxa that differ from rhizoctonias by their phylogenetic position and/or ecological traits related to their nutrition out of the orchid roots (e.g. soil saprobic or ectomycorrhizal fungi). We offer an evolutionary framework for these symbiotic associations. SCOPE: Our view is based on the 'Waiting Room Hypothesis', an evolutionary scenario stating that mycorrhizal fungi of land flora were recruited from ancestors that initially colonized roots as endophytes. Endophytes biotrophically colonize tissues in a diffuse way, contrasting with mycorrhizae by the absence of morphological differentiation and of contribution to the plant's nutrition. The association with rhizoctonias is probably the ancestral symbiosis that persists in most extant orchids, while during orchid evolution numerous secondary transitions occurred to other fungal taxa. We suggest that both the rhizoctonia partners and the secondarily acquired ones are from fungal taxa that have broad endophytic ability, as exemplified in non-orchid roots. We review evidence that endophytism in non-orchid plants is the current ecology of many rhizoctonias, which suggests that their ancestors may have been endophytic in orchid ancestors. This also applies to the non-rhizoctonia fungi that were secondarily recruited by several orchid lineages as mycorrhizal partners. Indeed, from our review of the published literature, they are often detected, probably as endophytes, in extant rhizoctonia-associated orchids. CONCLUSION: The orchid family offers one of the best documented examples of the 'Waiting Room Hypothesis': their mycorrhizal symbioses support the idea that extant mycorrhizal fungi have been recruited among endophytic fungi that colonized orchid ancestors.


Subject(s)
Mycorrhizae , Orchidaceae , Endophytes , Orchidaceae/microbiology , Phylogeny , Symbiosis , Waiting Rooms
10.
Front Plant Sci ; 12: 763446, 2021.
Article in English | MEDLINE | ID: mdl-34868160

ABSTRACT

Echinopsis chiloensis is an endemic cactus from Chile, distributed in a temperature and rainfall gradient between 30° and 35° South latitude, with mean temperatures increasing and precipitation decreasing toward the north. It is the main host of the mistletoe Tristerix aphyllus, a holoparasite completely dependent on the cactus for water, carbon, and minerals. In this study, we investigated the consequences of parasitism over the fitness and physiology of this cactus throughout its distribution range and how it is affected by the environment. We measured five functional traits in eight populations latitudinally distributed, the first three only for the host: reproductive fitness, stomatal traits (density and size), and photosynthesis (during winter and summer); and the last two for the host and parasite: stable isotopes (∂13C and ∂15N), and nutrients (carbon and nitrogen content). The results showed a negative effect of parasitism over fitness of infected cacti. However, the higher nitrogen concentrations in cactus tissues toward the south improved overall fitness. Regarding photosynthesis, we only observed a negative effect of parasitism during the dry season (summer), which is also negatively affected by the increase in summer temperatures and decrease in winter rainfall toward the north. There were no differences in nutrient concentration or in the isotopic signature of healthy and infected cacti. Conversely, we observed a higher carbon and lower nitrogen concentration in mistletoes than in cacti regardless of latitude. The loss of temperature seasonality toward the north increases the C:N ratio, and the values between the parasite and its host diverge. ∂15N was similar between parasites and hosts while ∂13C of the parasite was enriched when compared to its host. Overall, the infection by T. aphyllus affects Echinopsis chiloensis fitness but showed no strong effects over the cactus physiology, except for the summer photosynthesis. Therefore, our data revealed that E. chiloensis response to T. aphyllus infection is sensitive to environmental changes in a way that could be strongly impacted by the desertification projected for this area due to climate change.

11.
Medicina (B Aires) ; 81(5): 780-785, 2021.
Article in Spanish | MEDLINE | ID: mdl-34633952

ABSTRACT

A retrospective analysis of fungal infections was carried out in a health-care burn center between 2011 and 2014 using the patients' medical records (n = 36). Patients ranged from 18 to 87 years of age, with 23 (63.9%) being women. The most prevalent widespread total body surface area affected (TBSA) was 30-50% (p = 0.03), and 71-100% in younger patients, mainly associated with femicide. Fourth degree burns were revealed in 69.4% of the patients while in 50%, inhalation injuries were observed to represent a higher mortality rate (p = 0.04). The Candida score was 3 in 77.7% of cases respectively. Central venous catheter and mechanical ventilation were used. All patients received antibiotic treatment and 91.7% antifungal treatment. Surgical excision of the burn was performed in 33 (91.7%) patients, and skin autografting in 29 (80.6%). The median of the fungal infection developed was 21.4 days after admission to the ICU. The specimens analyzed involved 52 yeast samples isolated from different cultures: urine (42.3%), blood (26.9%), skin biopsy (9.6%), catheter tip (15.4%) and tracheal aspirate (5.8%). The use of microbiological culture and molecular methods allowed for the identification of Candida albicans (53.8%), C. tropicalis (23.1%), C. parapsilosis sensu stricto (13.5%), C. krusei (5.8%), C. glabrata (1.9%) and C. dubliniensis (1.9%). Fungal infections observed in skin burns lead to severe complications in at-risk patients.


Se realizó un estudio retrospectivo de las infecciones fúngicas atendidas en un centro de quemados de alta complejidad situado en Buenos Aires, entre 2011 y 2014, mediante el análisis de las historias clínicas (n = 36). Las edades de los pacientes estuvieron entre 18 y 87 años, y 23 (63.9%) fueron mujeres. La extensión de la superficie corporal afectada más prevalente varió entre 30 y 50% (p = 0.03), y entre 71% y 100% en pacientes de menor edad, relacionándose con intentos de femicidio. En el 69.4% la profundidad de la quemadura fue grado 4, y en el 50% de los casos se observaron lesiones por inhalación, con una alta mortalidad (p = 0.04). El Candida score resultó de 3 en el 77.7% de los casos. Se usaron vías centrales y ventilación mecánica. Todos los pacientes recibieron tratamiento antibiótico y en 33 (91.7%) antifúngicos. La escisión quirúrgica de la quemadura se practicó en 33 (91.7%) y los autoinjertos de piel en 29 (80.6%). La infección fúngica se desarrolló en una media de 21.4 días del ingreso en UCI. Se estudiaron 52 muestras de levaduras que se aislaron de urocultivo (42.3%), hemocultivo (26.9%), biopsia cutánea (9.6%), punta de catéter (15.4%) y aspirado traqueal (5.8%). Por cultivo microbiológico y métodos moleculares se identificaron a Candida albicans (53.8%), C. tropicalis (23.1%), C. parapsilosis sensu stricto (13.5%), C. krusei (5.8%), C. glabrata (1.9%) y C. dubliniensis (1.9%). Las infecciones fúngicas representan severas complicaciones en quemados con factores de riesgo.


Subject(s)
Candida , Mycoses , Antifungal Agents , Female , Humans , Mycoses/drug therapy , Retrospective Studies , Risk Factors
12.
Medicina (B.Aires) ; 81(5): 780-785, oct. 2021. graf
Article in Spanish | LILACS | ID: biblio-1351051

ABSTRACT

Resumen Se realizó un estudio retrospectivo de las infecciones fúngicas atendidas en un centro de quemados de alta complejidad situado en Buenos Aires, entre 2011 y 2014, mediante el análisis de las histo rias clínicas (n = 36). Las edades de los pacientes estuvieron entre 18 y 87 años, y 23 (63.9%) fueron mujeres. La extensión de la superficie corporal afectada más prevalente varió entre 30 y 50% (p = 0.03), y entre 71% y 100% en pacientes de menor edad, relacionándose con intentos de femicidio. En el 69.4% la profundidad de la quemadura fue grado 4, y en el 50% de los casos se observaron lesiones por inhalación, con una alta mortali dad (p = 0.04). El Candida score resultó de 3 en el 77.7% de los casos. Se usaron vías centrales y ventilación mecánica. Todos los pacientes recibieron tratamiento antibiótico y en 33 (91.7%) antifúngicos. La escisión qui rúrgica de la quemadura se practicó en 33 (91.7%) y los autoinjertos de piel en 29 (80.6%). La infección fúngica se desarrolló en una media de 21.4 días del ingreso en UCI. Se estudiaron 52 muestras de levaduras que se aislaron de urocultivo (42.3%), hemocultivo (26.9%), biopsia cutánea (9.6%), punta de catéter (15.4%) y aspirado traqueal (5.8%). Por cultivo microbiológico y métodos moleculares se identificaron a Candida albicans (53.8%), C. tropicalis (23.1%), C. parapsilosis sensu stricto (13.5%), C. krusei (5.8%), C. glabrata (1.9%) y C. dubliniensis (1.9%). Las infecciones fúngicas representan severas complicaciones en quemados con factores de riesgo.


Abstract A retrospective analysis of fungal infections was carried out in a health-care burn center between 2011 and 2014 using the patients' medical records (n = 36). Patients ranged from 18 to 87 years of age, with 23 (63.9%) being women. The most prevalent widespread total body surface area affected (TBSA) was 30-50% (p = 0.03), and 71-100% in younger patients, mainly associated with femicide. Fourth degree burns were revealed in 69.4% of the patients while in 50%, inhalation injuries were observed to represent a higher mortality rate (p = 0.04). The Candida score was 3 in 77.7% of cases respectively. Central venous catheter and mechanical ventilation were used. All patients received antibiotic treatment and 91.7% antifungal treatment. Surgical excision of the burn was performed in 33 (91.7%) patients, and skin autografting in 29 (80.6%). The median of the fungal infection devel oped was 21.4 days after admission to the ICU. The specimens analyzed involved 52 yeast samples isolated from different cultures: urine (42.3%), blood (26.9%), skin biopsy (9.6%), catheter tip (15.4%) and tracheal aspirate (5.8%). The use of microbiological culture and molecular methods allowed for the identification of Candida albicans (53.8%), C. tropicalis (23.1%), C. parapsilosis sensu stricto (13.5%), C. krusei (5.8%), C. glabrata (1.9%) and C. dubliniensis (1.9%). Fungal infections observed in skin burns lead to severe complications in at-risk patients.


Subject(s)
Humans , Female , Candida , Mycoses/drug therapy , Retrospective Studies , Risk Factors , Antifungal Agents
13.
Rev. Fac. Med. Hum ; 21(2): 399-416, Abr.-Jun. 2021.
Article in English, Spanish | LILACS-Express | LILACS | ID: biblio-1179300

ABSTRACT

El número de enfermedades genéticas se estima que podrían ser más de 10 000 condiciones diferentes, afectando alrededor del 6-8% de la población. La presente revisión nos muestra la importancia del descubrimiento de las variantes patogénicas en nuestro genoma que nos permite conocer con mayor precisión cuales son los mecanismos fisiopatológicos, y por lo tanto conocer puntos dianas susceptibles de modificaciones, mediante diferentes estrategias terapéuticas para poder palear los síntomas y signos, aumentar la expectativa de vida, mejorando así la calidad de vida de los pacientes que tienen algunas de estas enfermedades genéticas. Las diferentes terapias que existen en la actualidad son muy diversas como fármacos de uso en patologías comunes, terapia nutricional, fórmulas especiales, terapias de reemplazo enzimático, trasplante de órganos y células hematopoyéticas, reducción de sustrato, oligonucleótidos y la terapia génica. Al ser las enfermedades genéticas clínicamente heterogéneas, abre la posibilidad de poder investigar cada vez más nuevas estrategias en un mayor número de enfermedades que en la actualidad están olvidadas.


Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopathological, and hence to recognize those target points susceptible to modifications, through therapeutical strategies different with palliative proposals, increase life expectancy, or improve qualities of life. These therapies are diverse, using drugs for polygenic diseases, nutritional therapy, special formulas, enzyme replacement therapies, hematopoietic stem cell transplant, substrate reduction, oligonucleotides, and gene therapy. These genetic diseases are heterogeneous clinically with a very low frequency; nevertheless, open to the possibility of research in new strategies for more genetic disease, that today, furthermore, are orphans.

14.
Rev Fac Cien Med Univ Nac Cordoba ; 77(4): 385-386, 2020 12 21.
Article in Spanish | MEDLINE | ID: mdl-33351390

ABSTRACT

Mr. Editor, The National Comprehensive Cancer Network (NCCN) has determined that when a syndrome of predisposition to cancer is suspected, it is necessary to refer the patient for genetic evaluation because of the implications for diagnosis and management, as well as follow-up in the family (1). The genetic evaluation includes the description of the personal/family history and the request for the corresponding genetic study.


Sr. Editor, La Red Nacional Integral del Cáncer (NCCN) ha determinado que ante la sospecha de un síndrome de predisposición al cáncer, es necesario referir al paciente a evaluación genética debido a las implicancias en el diagnóstico y manejo, así como el seguimiento en sus familiares (1). La evaluación genética incluye la descripción de los antecedentes personales/familiares y la solicitud del estudio genético correspondiente.


Subject(s)
Gastrointestinal Neoplasms , Neoplastic Syndromes, Hereditary , Gastrointestinal Neoplasms/diagnosis , Gastrointestinal Neoplasms/genetics , Genetic Counseling , Genetic Predisposition to Disease , Genetic Testing , Humans , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics
15.
Rev. Fac. Med. (Bogotá) ; 68(4): 597-602, oct.-dic. 2020.
Article in Spanish | LILACS, COLNAL | ID: biblio-1149561

ABSTRACT

Resumen Los avances en la investigación clínica, genética y molecular del cáncer colorrectal (CCR) realizados durante los últimos años han permitido su detección temprana, así como su tratamiento oportuno. Sin embargo, uno de los mayores desafíos de esta enfermedad es su naturaleza heterogénea y la participación de diversas vías moleculares en su carcinogénesis. La implementación de las tecnologías ómicas -como la genómica, la proteómica, la transcriptómica y la epigenómica- en la investigación biomédica de pacientes con CCR hereditario ha permitido identificar nuevos genes o polimorfismos de nucléotido único (SNP, por su sigla en inglés) que afectan la expresividad del cáncer. Por otra parte, las herramientas bioinformáticas han contribuido a generar nuevas hipótesis sobre el CCR, orientando el abordaje de estos pacientes hacia una medicina personalizada. Este avance científico y tecnológico tiene un impacto en la salud, tanto a nivel individual como colectivo, por lo que es importante reflexionar sobre la viabilidad de desarrollar estrategias de salud pública para la implementación de un programa integral y genético de prevención y manejo del cáncer en Perú, en especial del CCR hereditario.


Abstract Progress in clinical, genetic and molecular research of colorectal cancer (CRC) in recent years has allowed its early detection and timely and targeted treatment. However, one of the greatest challenges is the heterogeneous nature of CRC and the involvement of various molecular pathways in its carcinogenesis. The implementation of technologies known as omics -such as genomics, proteomics, transcriptomics and epigenomics- in biomedical research on patients with hereditary CRC has allowed the identification of new genes or single nucleotide polymorphisms (SNPs) that affect the expressivity of cancer. Bioinformatics tools have also contributed to generate new hypotheses about CRC, guiding the approach to these patients towards personalized medicine. This scientific and technological progress has an impact on health, both at the individual and the collective level, so it is important to reflect on the feasibility of developing public health strategies for the implementation of a comprehensive and genetic program for the prevention and treatment of cancer in Peru, especially hereditary CRC.


Subject(s)
Humans , Colorectal Neoplasms , Public Health , Genetics
16.
Rev. Fac. Med. Hum ; 20(4): 670-681, Oct-Dic. 2020. tab, graf
Article in English, Spanish | LILACS-Express | LILACS | ID: biblio-1141318

ABSTRACT

La Hipertensión arterial pulmonar (HAP) es una enfermedad heterogénea donde los genes juegan un rol sumamente importante. La HAP hereditaria (HAPh) se define como una condición genética de patrón de herencia autosómico dominante, de penetrancia incompleta, de expresividad variable, que presenta un fenómeno de anticipación y que agrupa a los casos de HAP familiar definido por la presencia de dos o más miembros de la familia con HAP con o sin variante germinal identificada y a los casos de HAP idiopática que corresponde a los casos aislados en la familia con una variante germinal identificada. Para establecer el diagnóstico de HAPh, es necesario confirmar el diagnóstico en al menos dos familiares (HAPf) o identificar la variante germinal en un caso aislado en la familia (HAPi).


Pulmonary arterial hypertension (PAH) is a heterogeneous disease where genes play an important role. Hereditary PAH (PAH) is defined as a genetic condition of autosomal dominant manner, incomplete penetrance, variable expressivity, and which cases of familial PAH are defined by the presence of two or more family members with PAH with or without an identified germline variant and cases of idiopathic PAH corresponding to isolated cases in the family with an identified germline variant. To establish the diagnosis of hAPH, it is necessary to confirm the diagnosis in at least two relatives (HAPf) or identify the germline variant in an isolated case in the family (HAPi).

17.
FEMS Microbiol Ecol ; 96(11)2020 10 24.
Article in English | MEDLINE | ID: mdl-32845297

ABSTRACT

Little is known about the soil factors influencing root-associated fungal communities in Orchidaceae. Limited evidence suggests that soil nutrients may modulate the association with orchid mycorrhizal fungi (OMF), but their influence on non-mycorrhizal fungi remains unexplored. To study how nutrient availability affects mycorrhizal and non-mycorrhizal fungi associated with the orchid Bipinnula fimbriata, we conducted a metagenomic investigation within a large population with variable soil conditions. Additionally, we tested the effect of phosphorus (P) addition on fungal communities and mycorrhizal colonization. Soil P negatively correlated with the abundance of OMF, but not with the abundance of non-mycorrhizal fungi. After fertilization, increments in soil P negatively affected mycorrhizal colonization; however, they had no effect on OMF richness or composition. The abundance and richness of pathotrophs were negatively related to mycorrhizal colonization and then, after fertilization, the decrease in mycorrhizal colonization correlated with an increase in pathogen richness. Our results suggest that OMF are affected by soil conditions differently from non-mycorrhizal fungi. Bipinnula fimbriata responds to fertilization by altering mycorrhizal colonization rather than by switching OMF partners in the short term, and the influence of nutrients on OMF is coupled with indirect effects on the whole fungal community and potentially on plant's health.


Subject(s)
Mycobiome , Mycorrhizae , Orchidaceae , Plant Roots , Soil , Soil Microbiology
18.
Rev. argent. microbiol ; 52(1): 27-30, mar. 2020. graf
Article in English | LILACS | ID: biblio-1155681

ABSTRACT

Abstract The yeast Saccharomyces cerevisiae var. boulardii is a biotherapeutic agent used for the prevention and treatment of several gastrointestinal diseases. We report a case of fungemia in a patient suffering from Clostridium difficile-associated diarrhea and treated with metronidazole and a probiotic containing S. cerevisiae var. boulardii. The yeasts isolated from the blood culture and capsules were identified by MALDI-TOF MS and API ID 32 C as S. cerevisiae, and showed the same appearance and color on CHROMAgar Candida. Treatment with fluconazole 400mg/day was initiated and the probiotic was stopped. The patient was discharged from hospital in good condition and was referred to a rehabilitation center. We suggest that the potential benefit of S. cerevisiae var. boulardii should be accurately evaluated, especially in elderly patients. Moreover, all physicians should be trained in the use of probiotic agents and enquire whether the use probiotics was included in the patients'medical histories. © 2019 Asociación Argentina de Microbiología. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/).


Resumen Saccharomyces cerevisiae var. boulardii es un agente bioterapéutico usado en la prevención y el tratamiento de varias enfermedades gastrointestinales. Informamos de un caso de fungemia en una paciente con diarrea asociada a Clostridium difficile, y tratada con metron-idazol y un probiótico que contenía S. cerevisiae var. boulardii. Las levaduras aisladas a partir del hemocultivo y del contenido de las cápsulas tomadas por la paciente se identificaron como S. cerevisiae mediante MALDI-TOF MS y API® ID 32C, las colonias mostraron el mismo color y aspecto en el medio CHROMAgar™ Candida. Se instauró un tratamiento con fluconazol 400mg/día y se suspendió el probiótico. La paciente fue dada de alta del hospital en buenas condiciones, y remitida a un centro de rehabilitación. Sugerimos que el beneficio potencial del uso de S. cerevisiae var. boulardii debe ser evaluado en cada paciente, especialmente en personas añosas. El uso de probióticos debería incluirse en los interrogatorios orientados al diagnóstico y formar parte de la historia clínica. © 2019 Asociación Argentina de Microbiología. Publicado por Elsevier España, S.L.U. Este es un artículo Open Access bajo la licencia CC BY-NC-ND (https://creativecommons.org/licenses/by-nc-nd/4.0/).


Subject(s)
Aged, 80 and over , Female , Humans , Saccharomyces cerevisiae/isolation & purification , Fungemia/etiology , Probiotics/adverse effects , Saccharomyces boulardii , Mycoses/etiology
20.
Article in English | MEDLINE | ID: mdl-31956423

ABSTRACT

BACKGROUND: Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. CASE PRESENTATION: We present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found (c.629 T > C, p.Met210Thr.). His parents were negative for this variant after performed the genetic test. CONCLUSIONS: This is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.

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