The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report.

BACKGROUND: Hemoglobin (Hb) Chile [ß28(B10) Leu > Met; HBB: c.85 C > A] is a rare hemoglobin variant caused by a missense mutation in the HBB gene. Only one case of Hb Chile has been reported worldwide so far. It is an unstable hemoglobin, characterized by cyanosis associated with chronic methemoglobinemia and hemolytic anemia induced by sulfonamides or methylene blue. CASE PRESENTATION: A 9-year-3-month-old girl had mild anemia of unknown etiology for more than 6 years. She had a slight pallor without other symptoms or signs. The complete blood count revealed normocytic normochromic anemia with a sometimes-elevated reticulocyte count, and the bone marrow cytology showed marked erythroid hyperplasia, but the tests related to hemolysis were normal. Therefore, the whole exome sequencing was performed and showed a heterozygous mutation for HBB: c.85 C > A. With asymptomatic methemoglobinemia confirmed later, she was eventually diagnosed with Hb Chile. CONCLUSIONS: This is the first report of Hb Chile in China and the second worldwide. This case shows that Hb Chile is clinically heterogeneous and difficult to diagnose and expands our understanding on the clinical and hematological traits of the disease.

LncRNA OTUD6B-AS1 overexpression promoted GPX4-mediated ferroptosis to suppress radioresistance in colorectal cancer.

BACKGROUND: Radiotherapy is widely employed in colorectal cancer (CRC) treatment but is often compromised by developed radioresistance. This study explored the mechanism of long non-coding RNA ovarian tumor domain containing 6B-antisense RNA1 (lncRNA OTUD6B-AS1) in CRC radioresistance through tripartite motif 16 (TRIM16). METHODS: CRC and non-cancerous tissues were collected and radioresistant CRC cells were established, with real-time quantitative polymerase chain reaction to determine gene expression in tissues and cells. Radioresistance was evaluated by cell counting kit-8 assay and immunofluorescence (γ-H2AX) and ferroptosis was tested by Western blot assay (ACSL4/GPX4) and assay kits (Fe2+/ROS/MDA/GSH). The association between ferroptosis and lncRNA OTUD6B-AS1-inhibited radioresistance was testified using ferroptosis inhibitor. The subcellular localization of lncRNA OTUD6B-AS1 was tested by the nuclear/cytoplasmic fractionation assay, with RNA immunoprecipitation assay to validate gene interactions. Rescue experiments were conducted to analyze the role of TRIM16 in CRC radioresistance. RESULTS: LncRNA OTUD6B-AS1 and TRIM16 were poorly expressed (P < 0.01) in CRC tissues and cells and further decreased (P < 0.01) in radioresistant CRC cells. OTUD6B-AS1 overexpression decreased cell survival (P < 0.01), increased γ-H2AX levels (P < 0.01), and elevated ferroptosis and oxidative stress (P < 0.01) after X-ray radiation. Ferroptosis inhibitor attenuated radioresistance (P < 0.01) caused by lncRNA OTUD6B-AS1 overexpression. LncRNA OTUD6B-AS1 stabilized TRIM16 mRNA via binding to HuR. TRIM16 knockdown reduced ferroptosis and increased radioresistance (P < 0.05). CONCLUSION: OTUD6B-AS1 overexpression stabilized TRIM16 via binding to HuR and increased GPX4-mediated ferroptosis, thus attenuating CRC radioresistance. Our study provided a new rationale for the treatment of CRC.

Gonadotropin inhibitory hormone downregulates steroid hormone secretion and genes expressions in duck granulosa cells.

The mechanisms by which GnIH regulates the steroid synthesis pathway in duck granulosa cells remain poorly understood. In this study, we measured steroid hormone secretion by ELISA and reproduction-associated gene expression by quantitative real-time Polymerase Chain Reaction (qPCR) in duck granulosa cells treated with different concentrations of GnIH (0, 0.1, 1, 10, and 100 ng/mL) for 24 h. The genome-wide expression profiles of GnIH-treated cells (0 and 10 ng/mL) were evaluated by high-throughput RNA sequencing. Compared with untreated cells, the secretion of the steroid hormones E2, E1, P4, and T was downregulated, with that of E1 and P4 reaching statistical significance (P<0.05); in contrast, the secretion of ACV and INH was significantly upregulated (P<0.05) after treatment with 10 and 100 ng/mL GnIH. The expression of encoding steroidogenic proteins and enzymes genes (STAR, CYP11A1, CYP17A1, CYP19A1, and 3-ß-HSD) and encoding gonadotropin receptors genes (FSHR, LHR) were significantly declined (P<0.05) in the 10 and 100 ng/mL GnIH treatments. Transcriptome sequencing identified 348 differentially expressed genes (DEGs), including 253 upregulated and 95 downregulated genes. The DEGs were mainly involved in cell growth and death, immune response, and steroid biosynthesis pathways. We identified four novel DEGs (MROH5, LOC113840576, SDR42E1, and LOC113841457) with key roles in the regulation of steroid hormone biosynthesis. Our study revealed changes in gonadal steroid hormone secretion and steroid biosynthesis pathway-related gene expression in duck granulosa cells under the inhibitory effect of GnIH. These data contribute to our understanding of the molecular and genetic mechanisms underlying reproduction in ducks.

Human body constitution care medicine under the intervention of sports science / Os cuidados médicos com a constituição do corpo humano sob a intervenção da ciência do esporte / Los cuidados médicos con la constitución del cuerpo humano bajo la intervención de la ciencia del deporte

ABSTRACT Introduction: The shape, physiological function, and physical fitness (exercise ability) of the human body are the main parts of physical fitness. Different sports kinesiology methods have different effects on the human physique. System science-related theories can be applied to the research of the human health system under medical theory. Objective: We researched the human body's physique and formulate relevant sports kinesiology programs for the human body. We could analyze the influence of human body shape and physiological condition on human body constitution. Methods: We conducted research on the human body's physical health and nutrition through methods such as physical tests, anthropometric measurements, diet surveys, and laboratory examinations of the human body. Analyzing the correlation between sports and human body conditioning medicine had a favorable outcome in the study. Results: The sports kinesiology program has apparent effects on improving and enhancing human body shape, physiological functions, and physical fitness. Conclusion: The sports kinesiology program has a significant effect on improving the physical fitness of the human body. Level of evidence II; Therapeutic studies - investigation of treatment results.

RESUMO Introdução: A forma, a função fisiológica e o preparo físico (habilidade da prática de exercícios) do corpo humano são os principais componentes do preparo físico. Diferentes métodos de cinesiologia dos esportes êm diferentes efeitos no físico humano. Teorias cientificas sistemáticas podem ser aplicadas à pesquisa do sistema de saúde humana sob a teoria médica. Objetivo: Pesquisamos o físico do corpo humano e formulamos programas de cinesiologia dos esportes relevantes para o corpo humano. Pudemos analisar a forma corporal e a condição fisiológica na constituição do corpo humano. Métodos: Conduzimos uma pesquisa sobre a saúde e nutrição física do corpo humano com métodos como testes físicos, medidas antropométricas, estudos sobre dietas e exames laboratoriais do corpo humano. A análise da correlação entre esportes a medicina do condicionamento do corpo humano teve resultados positivos neste estudo. Resultados: O programa de cinesiologia do esporte tem efeitos visíveis em melhorar e aprimorar a forma do corpo humano, suas funções fisiológicas e o preparo físico. Conclusão: O programa de cinesiologia do esporte tem um efeito significativo em melhorar o preparo físico do corpo humano. Nível de evidência II; Estudos terapêuticos - investigação de resultados de tratamento.

Resumen Introducción: La forma, la función fisiológica y la preparación física (habilidad de la práctica de ejercicios) del cuerpo humano son los principales componentes de la preparación física. Diferentes métodos de kinesiología de los deportes pueden aplicarse a la investigación del sistema de salud humana bajo la teoría médica. Objetivo: Investigamos el físico del cuerpo humano y formulamos programas de kinesiología de los deportes relevantes para el cuerpo humano. Pudimos analizar la forma corporal y la condición fisiológica en la constitución del cuerpo humano. Métodos: Conducimos una investigación sobre la salud y nutrición física del cuerpo humano a través de métodos como pruebas físicas, medidas antropométricas, estudios sobre dietas y exámenes laboratoriales del cuerpo humano. El análisis de la correlación entre deportes y la medicina del condicionamiento del cuerpo humano tuvo resultados positivos en este estudio. Resultados: El programa de kinesiología del deporte tiene efectos visibles en mejorar y primorear la forma del cuerpo humano, sus funciones fisiológicas y la preparación física. Conclusión: El programa de kinesiología del deporte tiene un efecto significativo en mejorar la preparación física del cuerpo humano. Nivel de evidencia II; Estudios terapéuticos - investigación de resultados de tratamiento.

Gonadotropin inhibitory hormone downregulates steroid hormone secretion and genes expressions in duck granulosa cells

The mechanisms by which GnIH regulates the steroid synthesis pathway in duck granulosa cells remain poorly understood. In this study, we measured steroid hormone secretion by ELISA and reproduction-associated gene expression by quantitative real-time Polymerase Chain Reaction (qPCR) in duck granulosa cells treated with different concentrations of GnIH (0, 0.1, 1, 10, and 100 ng/mL) for 24 h. The genome-wide expression profiles of GnIH-treated cells (0 and 10 ng/mL) were evaluated by high-throughput RNA sequencing. Compared with untreated cells, the secretion of the steroid hormones E2, E1, P4, and T was downregulated, with that of E1 and P4 reaching statistical significance (P<0.05); in contrast, the secretion of ACV and INH was significantly upregulated (P<0.05) after treatment with 10 and 100 ng/mL GnIH. The expression of encoding steroidogenic proteins and enzymes genes (STAR, CYP11A1, CYP17A1, CYP19A1, and 3-β-HSD) and encoding gonadotropin receptors genes (FSHR, LHR) were significantly declined (P<0.05) in the 10 and 100 ng/mL GnIH treatments. Transcriptome sequencing identified 348 differentially expressed genes (DEGs), including 253 upregulated and 95 downregulated genes. The DEGs were mainly involved in cell growth and death, immune response, and steroid biosynthesis pathways. We identified four novel DEGs (MROH5, LOC113840576, SDR42E1, and LOC113841457) with key roles in the regulation of steroid hormone biosynthesis. Our study revealed changes in gonadal steroid hormone secretion and steroid biosynthesis pathway-related gene expression in duck granulosa cells under the inhibitory effect of GnIH. These data contribute to our understanding of the molecular and genetic mechanisms underlying reproduction in ducks.(AU)

Gonadotropin inhibitory hormone downregulates steroid hormone secretion and genes expressions in duck granulosa cells

Abstract The mechanisms by which GnIH regulates the steroid synthesis pathway in duck granulosa cells remain poorly understood. In this study, we measured steroid hormone secretion by ELISA and reproduction-associated gene expression by quantitative real-time Polymerase Chain Reaction (qPCR) in duck granulosa cells treated with different concentrations of GnIH (0, 0.1, 1, 10, and 100 ng/mL) for 24 h. The genome-wide expression profiles of GnIH-treated cells (0 and 10 ng/mL) were evaluated by high-throughput RNA sequencing. Compared with untreated cells, the secretion of the steroid hormones E2, E1, P4, and T was downregulated, with that of E1 and P4 reaching statistical significance (P<0.05); in contrast, the secretion of ACV and INH was significantly upregulated (P<0.05) after treatment with 10 and 100 ng/mL GnIH. The expression of encoding steroidogenic proteins and enzymes genes (STAR, CYP11A1, CYP17A1, CYP19A1, and 3-β-HSD) and encoding gonadotropin receptors genes (FSHR, LHR) were significantly declined (P<0.05) in the 10 and 100 ng/mL GnIH treatments. Transcriptome sequencing identified 348 differentially expressed genes (DEGs), including 253 upregulated and 95 downregulated genes. The DEGs were mainly involved in cell growth and death, immune response, and steroid biosynthesis pathways. We identified four novel DEGs (MROH5, LOC113840576, SDR42E1, and LOC113841457) with key roles in the regulation of steroid hormone biosynthesis. Our study revealed changes in gonadal steroid hormone secretion and steroid biosynthesis pathway-related gene expression in duck granulosa cells under the inhibitory effect of GnIH. These data contribute to our understanding of the molecular and genetic mechanisms underlying reproduction in ducks.