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Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients. All three patients had a homozygous substitution in intron 5: DES(NM_001927.4):c.1023+5G>A, predicted to cause a donor splice site defect. Muscle biopsy with ultrastructural analysis suggested myopathy with myofibrillar disarray, and immunohistochemistry showed partial loss of desmin with some residual staining, while western blot analysis showed reduced desmin. RT-PCR of patient muscle RNA revealed two transcripts: a reduced normal desmin transcript and a larger abnormal transcript suggesting leaky splicing at the intron 5 donor site. Sequencing of the PCR products confirmed the inclusion of intron 5 in the longer transcript, predicted to cause a premature stop codon. Thus, we provide evidence for a leaky splice site causing partial loss of desmin associated with a unique phenotypic presentation of a milder form of desmin-related recessive myopathy overlapping with congenital myasthenic syndrome.
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Desmina , Humanos , Masculino , Desmina/genética , Desmina/metabolismo , Femenino , Adulto Joven , Adolescente , Músculo Esquelético/patología , Músculo Esquelético/ultraestructura , Músculo Esquelético/metabolismo , Sitios de Empalme de ARN/genética , Transmisión Sináptica , Fenotipo , MutaciónRESUMEN
Community-based conservation can support livelihoods and biodiversity, while reinforcing local and Indigenous values, cultures, and institutions. Its delivery can help address cross-cutting global challenges, such as climate change, conservation, poverty, and food security. Therefore, understanding trends in community-based conservation is pertinent to setting and implementing global goals. We undertook a horizon scan to prioritize 15 emerging threats and opportunities expected to impact the future effectiveness of community-based conservation. Topics relate to global biodiversity policy; human rights; shifting human geography; inclusion, diversity, equity, and access; conservation finance and income; and economic reforms. Our findings offer guidance on strengthening community-based conservation to achieve global environmental and development goals.
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Biodiversidad , Conservación de los Recursos Naturales , Humanos , Cambio Climático , Predicción , GeografíaRESUMEN
Lung squamous cell carcinoma (LUSC) is the second most common subtype of lung cancer, accounting for a majority of lung cancer-related deaths. Detection or diagnosis of cancer at an early stage is an unmet clinical need that is being actively explored. In this study, we aimed to identify potential biomarkers for LUSC, by screening expression status of all human genes against LUSC patient samples available with The Cancer Genome Atlas (TCGA). This led to the identification of several genes that are upregulated in LUSC. Further analysis revealed that many of these genes also show higher expression at the protein level not only in lung cancer but also in other cancers. Additionally, some of these genes show stage-dependent higher expression and are associated with statistically significant poor survival of LUSC patients. As per our results, more than 60 genes are overexpressed in LUSC at the level of mRNA and some at the protein level. Thus, we identified genes such as MCC1, MRPL47, CRYGS, HSP40, DNAJC19, GMPS and PARL as novel potential biomarkers for LUSC in this study. We believe that these genes hold great potential as LUSC biomarkers for early detection as the data are derived from patient samples. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-023-03489-z.
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Severe acute respiratory syndrome involving corona virus-2 (SARS-CoV-2) has been implied to cause COVID-19 disease, leading to an unprecedented health emergency across the globe with a staggering figure of mortality rate. Measures to control the pandemic are pushing the economy into a tailspin, putting burden not only on the individuals but also on the nations. Despite the widespread infection rates, young people have shown better recovery rate while COVID-19 symptoms are more pronounced in elderly and people with comorbid conditions such as diabetes, cardiac and respiratory diseases. Cancer is a highly prevalent disease affecting millions of individuals. In this study, we analyzed the expression status of genes that are required for SARS-CoV-2 infectivity and its propagation to assess the susceptibility of certain cancer patients to infection and subsequent complications. Our data indicate that patients with colon, rectum, cholangiocarcinoma, lung adenoma, kidney renal papillary cell carcinoma and kidney renal clear cell carcinoma are more at risk for COVID-19. Genes that are responsible for severe COVID-19 are also highly expressed in many cancer types. We also carried out the association rule mining analysis which is helpful in predicting the expression of proviral genes in various cancers.
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Although coexistence with wildlife is a key goal of conservation, little is known about it or how to study it. By coexistence we mean a sustainable though dynamic state in which humans and wildlife coadapt to sharing landscapes, where human interactions with wildlife are effectively governed to ensure wildlife populations persist in socially legitimate ways that ensure tolerable risk levels. Problems that arise from current conflict-oriented framing of human-wildlife interactions include reinforcing a human-nature dichotomy as fundamentally oppositional, suggesting coexistence requires the absence of conflict, and skewing research and management toward direct negative impacts over indirect impacts and positive aspects of living with wildlife. Human behavior toward wildlife is framed as rational calculus of costs and benefits, sidelining emotional and cultural dimensions of these interactions. Coexistence is less studied due to unfamiliarity with relevant methodologies, including qualitative methods, self-reflexivity and ethical rigor, and constraints on funding and time. These challenges are illustrated with examples from fieldwork in India and Africa. We recommend a basic approach to case studies aimed at expanding the scope of inquiries into human-wildlife relations beyond studies of rational behavior and quantification of costs and benefits of wildlife to humans.
Replanteamiento del Estudio de la Coexistencia Humano-Fauna Resumen A pesar de que la coexistencia con la fauna es una meta de suma importancia para la conservación, todavía se conoce muy poco sobre ella y cómo estudiarla. Cuando hablamos de coexistencia nos referimos a un estado sustentable, pero a la vez dinámico en el cual los humanos y la fauna están coadaptados a compartir paisajes en los que las interacciones entre humanos y animales están regidas de manera efectiva para asegurar que las poblaciones de fauna persistan de maneras socialmente legítimas que aseguren niveles tolerables de riesgo. Los problemas que surgen de las actuales estructuraciones orientadas hacia la resolución de conflictos en las interacciones humano-fauna incluyen el reforzamiento de una dicotomía humano-naturaleza como fundamentalmente opositora, lo que sugiere que la coexistencia requiere de una ausencia del conflicto y la desviación de la investigación y el manejo hacia los impactos negativos directos por encima de los impactos indirectos y los aspectos positivos de la convivencia con la fauna. El comportamiento humano hacia la fauna está conceptualizado como un cálculo racional de costos y beneficios, haciendo a un lado las dimensiones emocionales y culturales de estas interacciones. La coexistencia está poco estudiada debido a la poca familiarización con las metodologías relevantes, incluyendo los métodos cualitativos, el rigor ético y autorreflexivo y las restricciones al financiamiento y al tiempo. Estos retos se encuentran ilustrados mediante ejemplos tomados del trabajo de campo en la India y en África. Recomendamos un enfoque básico para los estudios de caso centrado en la expansión del espectro de las indagaciones en las relaciones humano-fauna más allá de los estudios del comportamiento racional y la cuantificación de los costos y beneficios de la fauna para los humanos.
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Animales Salvajes , Conservación de los Recursos Naturales , África , Animales , Humanos , India , MotivaciónRESUMEN
Lung adenocarcinoma (LUAD) is the most predominant subtype of lung cancers and is one of the leading causes of cancer related mortality worldwide. Despite the advancements in the field of cancer diagnostics and therapeutics, detection at an early stage using reliable biomarkers is an unmet clinical need for a plethora of cancers, including LUAD, thus attributing to poor prognosis. In view of this, to identify potential biomarkers and therapeutic candidate genes, the expression of all known human genes was screened in the publicly available 'The Cancer Genome Atlas' (TCGA) samples of LUAD patients which resulted in the identification of overexpressed genes. Further analysis of these genes across various patient sample datasets revealed that ZNF687, ODR4, PBXIP1, PYGO2, METTL3, PIGM and RAD1 are consistently more highly expressed in LUAD. Higher expression of these genes either alone or in combination is correlated with poor survival of LUAD patients. Hence, in this study we propose that these identified genes could serve as potential candidates as gene signatures or biomarkers for LUAD that require further investigation in large cohorts of LUAD samples.
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The threat posed by large carnivores to livestock and humans makes peaceful coexistence between them difficult. Effective implementation of conservation laws and policies depends on the attitudes of local residents toward the target species. There are many known correlates of human attitudes toward carnivores, but they have only been assessed at the scale of the individual. Because human societies are organized hierarchically, attitudes are presumably influenced by different factors at different scales of social organization, but this scale dependence has not been examined. We used structured interview surveys to quantitatively assess the attitudes of a Buddhist pastoral community toward snow leopards (Panthera uncia) and wolves (Canis lupus). We interviewed 381 individuals from 24 villages within 6 study sites across the high-elevation Spiti Valley in the Indian Trans-Himalaya. We gathered information on key explanatory variables that together captured variation in individual and village-level socioeconomic factors. We used hierarchical linear models to examine how the effect of these factors on human attitudes changed with the scale of analysis from the individual to the community. Factors significant at the individual level were gender, education, and age of the respondent (for wolves and snow leopards), number of income sources in the family (wolves), agricultural production, and large-bodied livestock holdings (snow leopards). At the community level, the significant factors included the number of smaller-bodied herded livestock killed by wolves and mean agricultural production (wolves) and village size and large livestock holdings (snow leopards). Our results show that scaling up from the individual to higher levels of social organization can highlight important factors that influence attitudes of people toward wildlife and toward formal conservation efforts in general. Such scale-specific information can help managers apply conservation measures at appropriate scales. Our results reiterate the need for conflict management programs to be multipronged.
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Actitud , Conservación de los Recursos Naturales , Felidae , Lobos , Animales , Budismo , Humanos , India , Factores SocioeconómicosRESUMEN
Attempts to minimize the effects of human-wildlife conflict (HWC) on conservation goals require an understanding of the mechanisms by which such conflicts are caused and sustained. This necessitates looking beyond the natural sciences to the human dimensions of wildlife management. Public dissemination of information regarding HWC occurs largely through the mass media. We conducted a content analysis of print media articles on human-leopard conflict in Mumbai, India. We sought to understand the framing of HWC and the changes in media coverage over a 10-year period (2001-2011) during which a large number of attacks on people prior to 2005 were followed by a program of trapping and relocation. After 2005, when there was a decrease in the level of conflict, the tone of English-language media reports changed. The perpetrator framing was over 5 times more likely before 2005, whereas a neutral framing was twice as likely after 2005. English-language and non-English-language print media differed significantly in their framing of HWC and in the kinds of solutions advocated. Our results also suggest the print mass media in Mumbai could be an influential conduit for content that diminishes HWC. These media outlets seem attentive to human-leopard conflict, capable of correcting erroneous perceptions and facilitating mitigation and effective management. We believe better contact and mutual understanding between conservation professionals and the mass media could be an important component of managing HWC. We further suggest that in such interactions conservation professionals need to be aware of cultural and linguistic differences in reporting within the country.