Cribado prenatal de aneuploidías mediante análisis de ácido desoxirribonucleíco libre total circulante en plasma materno. Revisión narrativa / Prenatal screening for aneuploidies by analysis of circulating total free deoxyribonucleic acid in maternal plasma. Narrative review

La prueba prenatal no invasiva es un método de cribado de aneuploidías fetales y de resultar con riesgo alto debe ser confirmado a través de prueba genética diagnóstica. Es la prueba de detección más sensible y específica para las aneuploidías fetales comunes y minimiza la realización de técnicas invasivas, solo para las gestantes con riesgo elevado. Se debe realizar asesoramiento genético pre- y poscribado. Este estudio tiene como objetivo describir los fundamentos básicos de la prueba prenatal no invasiva mediante el análisis del ácido desoxirribonucleíco libre circulante en plasma materno para cribado de aneuploidías, y de los métodos primordiales y avances en biología molecular incluyendo las tecnologías de secuenciación de nueva generación, que lo han facilitado, considerando sus beneficios y limitaciones al aplicarla en la práctica clínica, en este campo que cambia con tanta rapidez(AU)

The non-invasive prenatal test is a screening method for fetal aneuploidies and if the result is at high risk, it must be confirmed through diagnostic genetic test. It is the most sensitive and specific detection test for common fetal aneuploidies and minimizes the use of invasive techniques, only for pregnant women at high risk. Genetic counseling should be performed before and after screening. This study aims to describe the basic fundamentals of non-invasive prenatal testing by analyzing free circulating deoxyribonucleic acid in maternal plasma for aneuploidy screening, and the primary methods and advances in molecular biology, including next-generation sequencing technologies, which have facilitated it, considering its benefits and limitations when applying it in clinical practice, in this rapidly changing field(AU)

Utilidad de GeneXpert MTB/RIF en el diagnóstico de tuberculosis frente a la baciloscopia / Utility of GeneXpert MTB/RIF in the Diagnosis of Tuberculosis Compared to Sputum Smear Microscopy

Introducción: La implementación de un método diagnóstico adecuado y eficiente es crucial para la detección temprana de la tuberculosis. Esto no solo permite un control efectivo de la enfermedad para evitar su transmisión y progresión hacia estadios más graves, además previene el desarrollo de resistencia a los fármacos en los pacientes.Objetivo: Evaluar la utilidad de la prueba molecular GeneXpert MTB/RIF en el diag-nóstico de Mycobacterium tuberculosis complex, en comparación con la bacilos-copia, utilizando el cultivo como referencia.Material y Métodos: Se realizó un estudio descriptivo, observacional y no expe-rimental de corte transversal, se incluyeron 253 muestras de pacientes de ambos sexos y de variados rangos de edad, que fueron evaluadas mediante baciloscopia, GeneXpert MTB/RIF y cultivo. El estudio se centró en muestras procesadas en un Hospital público de la ciudad de Quito durante el período de enero de 2021 a mayo de 2022Resultados: La prueba molecular GeneXpert MTB/RIF mostró una sensibilidad del 94,7% y una especificidad del 93,9% para el diagnóstico de Mycobacterium tu-berculosis complex. Además, se identificó un caso de resistencia a la rifampicina.Conclusión: Este estudio confirma la eficacia de la prueba molecular GeneXpert MTB/RIF sobre la baciloscopia para el diagnóstico oportuno de Mycobacterium tu-berculosis complex. Sin embargo, es esencial considerar las diversas condiciones de las muestras y pacientes para optimizar la precisión diagnóstica

Introduction: Implementing an appropriate and efficient diagnostic method is cru-cial for the early detection of tuberculosis. This not only allows for effective control of the disease to prevent its transmission and progression to more severe stages but also prevents the development of drug resistance in patients.Objective: To evaluate the utility of the GeneXpert MTB/RIF molecular test in diag-nosing Mycobacterium tuberculosis complex, compared to sputum smear micros-copy, using culture as the reference. Material and Methods: A descriptive, observational, and non-experimental cross-sectional study was conducted, including 253 samples from patients of both sexes and various age ranges, which were assessed using sputum smear micros-copy, GeneXpert MTB/RIF, and culture. The study focused on samples processed at a Quito ́s Public Hospital during the period from January 2021 to May 2022.Results: The GeneXpert MTB/RIF molecular test showed a sensitivity of 94.7% and a specificity of 93.9% for the diagnosis of Mycobacterium tuberculosis com-plex. Additionally, a case of resistance to rifampicin was identified.Conclusion: This study confirms the effectiveness of the GeneXpert MTB/RIF mo-lecular test over sputum smear microscopy for the timely diagnosis of tuberculosis. However, it is essential to consider the diverse conditions of the samples and pa-tients to optimize diagnostic accuracy

Borderline ovarian tumors: a review of its biology, molecular profile, and management / Tumores borderline de ovário: uma revisão de sua biologia, perfil molecular e manejo

Borderline ovarian tumors typically exhibit indolent behavior and boast a favorable prognosis; however, a subset of patients experiences disease recurrence and progression to low-grade ovarian carcinoma. The complex biology underlying these phenomena has been illuminated through molecular analyses. KRAS and BRAF mutations have emerged as recurrent ?ndings in borderline ovarian tumors. Speci?cally, KRAS mutations have been linked to a higher risk of recurrence and progression to low-grade ovarian carcinoma, while BRAF mutations seem to confer a protective e?ect, inducing a senescent state that mitigates the likelihood of progression. In this comprehensive review, we explore the biology and the molecular pro?le of borderline ovarian tumors, shedding light on recent discoveries that have enriched our comprehension. Additionally, we discuss the current state of borderline ovarian tumors management. Surgery remains the cornerstone of treatment. While cytotoxic therapies role is limited so far, molecular characterization emphasizes the imminent potential for personalized therapeutic approaches.

Os tumores borderline de ovário geralmente exibem comportamento indolente e apresentam prognóstico favorável; no entanto, um subconjunto de pacientes apresenta recorrência da doença e progressão para carcinoma de ovário de baixo grau. A biologia complexa subjacente a estes fenômenos foi iluminada através de análises moleculares. Mutações KRAS e BRAF surgiram como achados recorrentes em tumores borderline de ovário. Especificamente, as mutações KRAS têm sido associadas a um maior risco de recorrência e progressão para carcinoma de ovário de baixo grau, enquanto as mutações BRAF parecem conferir um efeito protetor, induzindo um estado senescente que mitiga a probabilidade de progressão. Nesta revisão abrangente, exploramos a biologia e o perfil molecular dos tumores borderline de ovário, lançando luz sobre descobertas recentes que enriqueceram nossa compreensão. Além disso, discutimos o estado atual do manejo de tumores borderline de ovário. A cirurgia continua sendo o pilar de tratamento. Embora o papel das terapias citotóxicas seja limitado até o momento, a caracterização molecular enfatiza o potencial iminente para abordagens terapêuticas personalizadas.

The expression of PCDH9 was absent in prostate cancer tissues in the high-score group and was associated with the expressions of p53, Rb and STAT3 / 现代泌尿外科杂志

【Objective】 To explore the expression of PCDH9 loss in regulating cell cycle and promoting tumor progression. 【Methods】 The clinical records of 127 cases of prostate cancer treated during 2018 and 2023 were collected, including 87 paraffin tissue samples from the G4-5 group and 40 from the G1-3 group. The expressions of PCDH9, p53, Rb and STAT3 were detected with immunohistochemical staining, and the relationship between their expressions and clinicopathological characteristics was analyzed. 【Results】 The expression deletion rate of PCDH9 in prostate cancer tissues in G4-5 group (44.8% vs.7.5%) was significantly higher than that in G1-3 group (P<0.001). The positive expression rates of p53 and STAT3 were 34.5% and 89.7%, respectively, and the expression loss rate of Rb was 27.6% in G4-5 group. The expression loss rates of PCDH9 and Rb were associated with neuroendocrine-like histological morphology, nerve invasion and vascular invasion (P<0.05). In G4-5 group of prostate cancer, PCDH9 expression was positively correlated with the expressions of p53 (r=0.345, P<0.05), Rb (r=0.503, P<0.05) and STAT3 (r=0.224, P<0.05). 【Conclusion】 PCDH9 is prone to loss of expression in high-group prostate cancer tissues, especially in cases with neuroendocrine-like histological morphology, which may regulate the cell cycle through the STAT3 signaling pathway, thereby promoting tumor progression.

Pathophysiology of posttraumatic ankle osteoarthritis: a multicenter perspective / Fisiopatologia da osteoartrite pós-traumática do tornozelo: perspectiva multicêntrica

ABSTRACT Besides the acute injury and trauma-induced macroscopic alterations, the evolution to posttraumatic ankle osteoarthritis (PTOA) is a complex process progressing at the tissue and molecular level. Furthermore, changes in the molecular pathways affect chondrocyte viability. Treatment modalities for PTOA focal or confined disease include innovative techniques. Objective: Our purpose is to increase medical awareness based on scientific evidence of pathophysiology, molecular biology, and treatment of post-traumatic ankle osteoarthritis. Methods: To support the perspectives of the experts, evidence from the scientific literature respected the PRISMA guidelines and the PICOS search strategy was used. We included case-control, cohort, experimental studies and case reports, written in English. Results: The authors were homogeneously exposed to 282 selected abstracts and 114 full articles directly related to post-traumatic osteoarthritis after malleolar fractures. Conclusion: The pathophysiological factors involved in posttraumatic ankle osteoarthritis, such as biological, structural, mechanical, and molecular changes must be studied together, as the interaction between these factors determines the risk of progression of PTOA. Inhibition of a single catabolic molecule or cascade probably is not sufficient to alter the natural progression of the pathological process. Evidence level V, expert opinion.

RESUMO A evolução para a osteoartrite pós-traumática do tornozelo (PTOA) a partir da lesão aguda e das alterações macroscópicas induzidas pelo trauma é um processo complexo, que progride em nível tecidual e molecular. Além disso, as alterações nas vias moleculares afetam a viabilidade dos condrócitos. As modalidades focais ou confinadas de tratamento para PTOA incluem técnicas inovadoras. Objetivo: Nosso objetivo é aumentar a conscientização médica, com base em evidências científicas de fisiopatologia, biologia molecular e tratamento da osteoartrite pós-traumática do tornozelo. Métodos: Para o embasamento das perspectivas dos autores experts, as evidências da literatura científica respeitaram as diretrizes Prisma e a estratégia de busca Picos foi empregada. Incluímos estudos de caso-controle, de coorte, experimentais e relatos de caso, escritos em inglês. Resultados: Os autores foram expostos de forma homogênea a 282 resumos e 114 artigos completos, diretamente relacionados à osteoartrite pós-traumática após fraturas maleolares. Conclusão: Os fatores fisiopatológicos envolvidos na osteoartrite pós-traumática do tornozelo, como alterações biológicas, estruturais, mecânicas e moleculares, devem ser estudados em conjunto, pois a interação entre esses fatores determina o risco de progressão da PTOA. A inibição de uma única molécula catabólica ou cascata provavelmente não é suficiente para alterar a progressão natural do processo patológico. Nível de evidência V, opinião do especialista.

Mecanismos moleculares de la esquizofrenia / Molecular mechanisms of schizophrenia / Mecanismos moleculares da esquizofrenia

La etiología de la esquizofrenia no está totalmente dilucidada. Se conocen más de 100 diferentes loci de genes relacionados con esquizofrenia, la mayoría de los cuales codifican moléculas asociados a los sistemas de neurotransmisores o al neurodesarrollo. Las primeras abarcan receptores de los neurotransmisores como dopamina, GABA o glutamato y de otros neurotransmisores con menor relación, como la serotonina y la acetilcolina. También están implicadas diversas enzimas relacionadas con el metabolismo, cotransportadores y algunas proteínas intracelulares involucradas en la degradación o síntesis de dichos neurotransmisores. Entre las moléculas que intervienen en el neurodesarrollo están los factores neurotróficos (BDNF, DISC1, NRG1) y las proteínas del complemento C3 y C4, que median la respuesta inflamatoria y la poda sináptica durante el desarrollo temprano. Los productos de la producción genética involucrados en la etiología de la esquizofrenia aportan a la vulnerabilidad selectiva o al proceso de lesión que se instaura o progresa en el paciente, por tanto, su estudio es de relevancia para la comprensión de los fenómenos clínicos propios de la enfermedad.

The etiology of schizophrenia is not fully elucidated. More than 100 different gene loci related to schizophrenia are known, most of which encode molecules associated with neurotransmitter systems or neurodevelopment. These include receptors for neurotransmitters such as dopamine, GABA, or glutamate, as well as other neurotransmitters with less direct relevance, such as serotonin and acetylcholine. Various enzymes involved in metabolism, cotransporters, and intracellular proteins involved in the degradation or synthesis of said neurotransmitters are also implicated. Among the molecules involved in neurodevelopment are neurotrophic factors (BDNF, DISC1, NRG1) and complement proteins C3 and C4, which mediate the inflammatory response and synaptic pruning during early development. The genetic products involved in the etiology of schizophrenia contribute to selective vulnerability or the process of injury that is established or progresses in the patient. Therefore, their study is relevant to the understanding of the clinical phenomena associated with the disease.

A etiologia da esquizofrenia não está totalmente elucidada. Mais de 100 diferentes loci de genes relacionados à esquizofrenia são conhecidos, a maioria dos quais codifica moléculas associadas a sistemas de neurotransmissores ou neurodesenvolvimento. O primeiro inclui receptores para neurotransmissores como dopamina, GABA ou glutamato e outros neurotransmissores menos relacionados, como serotonina e acetilcolina. Também estão envolvidas várias enzimas relacionadas com o metabolismo, cotransportadores e algumas proteínas intracelulares envolvidas na degradação ou síntese dos referidos neurotransmissores. Entre as moléculas envolvidas no neurodesenvolvimento estão os fatores neurotróficos (BDNF, DISC1, NRG1) e as proteínas do complemento C3 e C4, que medeiam a resposta inflamatória e a poda sináptica durante o desenvolvimento inicial. Os produtos da produção genética envolvidos na etiologia da esquizofrenia contribuem para a vulnerabilidade seletiva ou para o processo de lesão que se instala ou progride no paciente, portanto, seu estudo é relevante para a compreensão dos fenômenos clínicos da esquizofrenia

Rinovirus y metapneumovirus en pacientes con infección respiratoria aguda grave / Rhinovirus and metapneumovirus in patients with severe acute respiratory infection

Introducción. Los virus son los principales agentes etiológicos en las infecciones respiratorias agudas graves; un alto porcentaje queda sin diagnóstico viral. Objetivo. Describir la frecuencia de rinovirus y metapneumovirus en pacientes pediátricos de una unidad centinela de Mar del Plata con infección respiratoria aguda grave y resultado negativo para virus clásicos por inmunofluorescencia y biología molecular. Población y métodos. Se realizó un estudio descriptivo de corte transversal. Se evaluó la presencia de rinovirus y metapneumovirus por biología molecular en 163 casos negativos para panel respiratorio por técnicas de vigilancia referencial, durante todo el año 2015. Resultados. Se detectó rinovirus en el 51,5 % de los casos, metapneumovirus en el 9,8 % y coinfección rinovirus-metapneumovirus en el 6,1 %. Fueron negativos para ambos virus el 32,5 %. Conclusiones. La selección de muestras sin diagnóstico virológico permitió identificar rinovirus y metapneumovirus como agentes causales de infecciones respiratorias agudas graves pediátricas y su impacto en la morbimortalidad infantil y en nuestro sistema sanitario.

Introduction. Viruses are the main etiologic agents involved in severe acute respiratory tract infections; a viral diagnosis is not established in a high percentage of cases. Objective. To describe the frequency of rhinovirus and metapneumovirus in pediatric patients with severe acute respiratory infection and negative results for typical viruses by immunofluorescence and molecular biology at a sentinel unit of Mar del Plata. Population and methods. This was a descriptive, cross-sectional study. The presence of rhinovirus and metapneumovirus was assessed by molecular biology in 163 cases negative for respiratory panel by referral surveillance techniques throughout 2015. Results. Rhinovirus was detected in 51.5% of cases, metapneumovirus in 9.8%, and coinfection with rhinovirus and metapneumovirus in 6.1%. Results were negative for both viruses in 32.5%. Conclusions. The selection of samples without a viral diagnosis allowed us to identify rhinovirus and metapneumovirus as causative agents of severe acute respiratory infections in children and assess their impact on child morbidity and mortality and on our health care system

Diagnóstico de la Enfermedad de Chagas congénito: Aspectos relevantes

Introducción: El presente artículo describe aspectos relevantes entorno de la Enfermedad de Chagas congénita, tales como epidemiología, sintomatología, revisión de casos clínicos y las técnicas diagnósticas. Métodos: Se realizó una revisión de la literatura por medio de bases de datos bibliográficas como PubMed, Science direct, Scopus, Plos One, SciELO, teniendo como criterio de inclusión las publicaciones artículos o comprendidos entre enero de 2013 y enero del año 2022 en idioma español e inglés. Resultados: Se determinó que la prevalencia de la Enfermedad de Chagas congénita aún es un problema de salud pública en áreas endémicas y no endémicas, siendo la serología materna indispensable para dar seguimiento oportuno a los casos. Conclusiones: Los seguimientos diagnósticos actuales difieren en los países endémicos y se están aplicando tamizajes en zonas no endémicas donde migran mujeres procedentes de áreas de trasmisión activa de la Enfermedad Chagásica.

Introduction: This article describes relevant aspects of congenital Chagas disease, such as epidemiology, symptoms, review of clinical cases, and diagnostic techniques. Methods: A review of the literature was carried out through bibliographic databases such as PubMed, Science direct, Scopus, Plos One, SciELO, having as inclusion criteria articles or publications between January 2013 and January 2022 in Spanish and English. Results: It was determined that the prevalence of congenital Chagas disease is still a public health problem in endemic and non-endemic areas, and maternal serology is essential for timely monitoring of cases. Conclusions: Current diagnostic follow-ups differ in endemic countries and screening is being applied in non-endemic areas where women from areas of active transmission of Chagasic disease migrate.

Actualización en el diagnóstico y estratificación de pacientes con Leucemia Mieloide Aguda: una necesidad país imperiosa / Update on the Diagnosis and Stratification of Patients with Acute Myeloid Leukemia: An Urgent National Need

La leucemia mieloide aguda es una neoplasia con una elevada letalidad, con resultados inferiores en nuestro país respecto a la experiencia internacional publicada, posicionándola como una prioridad desde el punto de vista de salud pública oncológica. Actualmente, para su diagnóstico y estratificación se dispone de citología, inmunofenotipo, cariograma y escasas traslocaciones/mutaciones por biología molecular. Esta aproximación diagnóstica es insuficiente, ya que nos permite clasificar menos del 50% de los pacientes en un grupo específico y, por lo tanto, la elección de la terapia de consolidación se realiza con escasa información biológica. El rol de la morfología y de la citogenética progresivamente pierden relevancia pronóstica con respecto a la biología molecular, y la secuenciación de siguiente generación se ha posicionado como un elemento clave para el diagnóstico y estratificación de riesgo de estos pacientes. Además, la pesquisa de mutaciones germinales ha ido adquiriendo mayor relevancia, aumentando su frecuencia de detección e influyendo en la toma de decisiones respecto al tratamiento y en la selección de donante emparentado para un trasplante alogénico. En esta revisión se realiza una actualización del diagnóstico integrado de pacientes con leucemia mieloide aguda, a la luz de las nuevas clasificaciones diagnósticas (OMS 2022 e ICC 2022) y pronósticas (ELN 2022) y se propone un algoritmo a considerar para su implementación. Es perentorio como país invertir en nuevas tecnologías diagnósticas para mejorar el pronóstico de nuestros pacientes.

Acute myeloid leukemia is a neoplasm with a high lethality, with alarming results in our country, positioning it as a priority from the point of view of oncological public health. Cytology, immunophenotype, karyogram, and a few translocations/mutations by molecular biology are currently available for diagnosis and stratification. This diagnostic approach is insufficient since it allows classifying less than 50% of patients in a specific group. Therefore, consolidation therapy is selected with little biological information. The role of morphology and cytogenetics is progressively losing prognostic weight with respect to molecular biology, and next-generation sequencing has positioned itself as a key element for diagnosing our patients. In addition, the investigation of germline mutations is acquiring greater relevance, increasing its detection frequency and influencing decision-making regarding treatment and selecting a related donor for an allogeneic transplant. In this review, an update of the integrated diagnosis of patients with acute myeloid leukemia is carried out in light of the new diagnostic (WHO 2022 and ICC 2022), and prognostic classifications (ELN 2022). We propose an algorithm for integrated diagnosis to be considered for its implementation. It is imperative as a country to invest in new diagnostic technologies to improve the prognosis of our patients.

High-intensity interval training (treadmill) effects in myokines and endoplasmic reticulum stress of calf muscles in obese mice / Efectos del entrenamiento interválico de alta intensidad (trotadora) en miocinas y estrés del retículo endoplasmático de los músculos surales en ratones obesos

SUMMARY: Obesity is commonly associated with chronic tissue inflammation and skeletal muscle dysfunction. The study aimed to investigate the effects of High-Intensity Interval training (HIIT) on myokines and endoplasmic reticulum (ER) stress of diet- induced obese (DIO) mice. Three-month-old C57BL/6 male mice were fed a control (C) diet (n=20) or a high-fat (HF) diet (n=20) for 16 weeks. Then, half of the groups underwent HIIT (treadmill running) for an additional four weeks. HIIT increased calf muscles' contribution to BW (+24 %) and reduced weight gain in HF/HIIT than in HF (-120 %). Intramuscular fat accumulation was observed in HF and HF/ HIIT. Peak velocity was higher in HF/HIIT compared to HF (+26 %). Plasma insulin did not change, but glycemia was lower in HF/HIIT than in HF (-30 %). Fndc5 (+418 %) and Irisin (+72 %) were higher in HF/HIIT than in HF. Muscle Fgf21 was higher in HF/HIIT compared to HF (+30 %). In addition, NfKb (-53 %) and Tnfa (-63 %) were lower in HF/HIIT than in HF. However, Il1b (-86 %), Il6 (- 48 %), Il7 (-76 %), and Il15 (-21 %) were lower in HF/HIIT than in HF. Finally, HIIT reduced ER stress in HF/HIIT compared to HF: Atf4, -61 %; Chop, -61 %; Gadd45, -95 %. In conclusion, HIIT leads to weight loss and avoids muscle depletion. HIIT improves blood glucose, Irisin-Fndc5, and peak velocity. In addition, HIIT mitigates muscle inflammation and ER stress.

La obesidad es asociada comúnmente con inflamación tisular crónica y disfunción del músculo esquelético. El estudio tuvo como objetivo investigar los efectos del entrenamiento de intervalos de alta intensidad (HIIT) en las mioquinas y el estrés del retículo endoplásmico (ER) de ratones obesos inducidos por dieta (DIO). Se alimentó a ratones macho C57BL/6 de tres meses de edad con una dieta control (C) (n=20) o una dieta rica en grasas (HF) (n=20) durante 16 semanas. Luego, la mitad de los grupos se sometieron a HIIT (carrera en una trotadora) durante cuatro semanas más. HIIT aumentó la contribución de los músculos de la pantorrilla al BW (+24 %) y redujo el aumento de peso en HF/HIIT en HF (-120 %). Se observó acumulación de grasa intramuscular en HF y HF/HIIT. La velocidad máxima fue mayor en HF/HIIT en comparación con HF (+26 %). La insulina plasmática no cambió, pero la glucemia fue menor en HF/HIIT que en HF (-30 %). Fndc5 (+418 %) e Irisin (+72 %) fueron mayores en HF/HIIT que en HF. El Fgf21 muscular fue mayor en HF/ HIIT en comparación con HF (+30 %). Además, NfKb (-53 %) y Tnfa (-63 %) fueron menores en HF/HIIT que en HF. Sin embar- go, Il1b (-86 %), Il6 (-48 %), Il7 (-76 %) e Il15 (-21 %) fueron más bajos en HF/HIIT que en HF. Finalmente, HIIT redujo el estrés de RE en HF/HIIT en comparación con HF: Atf4, -61 %; Picar, - 61 %; Gadd45, -95 %. En conclusión, HIIT conduce a la pérdida de peso y evita el agotamiento muscular. HIIT mejora la glucosa en sangre, Irisin-Fndc5 y la velocidad máxima. Además, HIIT mitiga la inflamación muscular y el estrés ER.

Editing the Human Genome with CRISPR/Cas: A Review of its Molecular Basis, Current Clinical Applications, and Bioethical Implications

ABSTRACT CRISPR/Cas genes evolved in prokaryotic organisms as a mechanism of defense designed to identify and destroy genetic material from threatening viruses. A breakthrough discovery is that CRISPR/Cas system can be used in eukaryotic cells to edit almost any desired gene. This comprehensive review addresses the most relevant work in the CRISPR/Cas field, including its history, molecular biology, gene editing capability, ongoing clinical trials, and bioethics. Although the science involved is complex, we intended to describe it in a concise manner that could be of interest to diverse readers, including anyone dedicated to the treatment of patients who could potentially benefit from gene editing, molecular biologists, and bioethicists. CRISPR/Cas has the potential to correct inherited diseases caused by single point mutations, to knock-in the promoter of a gene whose expression is highly desirable or knockout the gene coding for a deleterious protein. CRISPR/Cas technique can also be used to edit ex vivo immune cells and reinsert them in patients, improving their efficiency in attacking malignant cells, limiting the infectious potential of viruses or modulating xenotransplant rejection. Very important bioethical considerations on this topic include the need to internationally regulate its use by ad hoc expert committees and to limit its use until safety and bioethical issues are satisfactorily resolved.

A sad portrait of congenital syphilis in the State of Rio de Janeiro. Case report with Polymerase Chain Reaction (PCR) of scrapings from skin lesions and placenta fragment positive for Treponema pallidum

Introduction: Congenital syphilis is a serious public health problem that causes high rates of intrauterine morbidity and mortality, revealing flaws and weaknesses in the health system. Objective: to report a case of congenital syphilis in a university hospital in the Center-South Region of the State of Rio de Janeiro, Brazil. Case report: A pregnant woman, aged between 19 and 23 years old, carrying a Pregnant Woman's Handbook with a record of seven prenatal consultations and a note of the serological reaction for positive syphilis, but without any treatment, hospitalized at the University Hospital of Vassouras (RJ), in labor, gave birth to a newborn (NB) with a clinical picture and serological test of congenital syphilis. The NB required care in an intensive care unit and was discharged 28 days after birth. Scraping of skin lesions of the NB and placenta was performed for analysis by molecular biology (PCR in house) and genetic material of Treponema pallidum was detected. Conclusion: Congenital syphilis is a serious outcome of syphilis during pregnancy, consuming high financial resources and significant emotional distress for the mother, father, the whole family, as well as for the health teams. Our case report was the first that we are aware of in Brazil with a diagnosis by PCR for positive Treponema pallidum of skin scraping and placental fragment. It also showed poor quality prenatal care, a common factor in most cases of CS in our reality

Practices of integrating the undergraduate and graduate teaching of Biochemistry and Molecular Biology / 生物工程学报

Biochemistry and Molecular Biology are the cornerstone courses of talent training in the field of life science. Taking these course as an example, this study explored reconstructing the knowledge framework, developing teaching cases, sharing teaching resources, innovating teaching means and establishing ideological education patterns. Supported by the scientific research achievements with discipline characteristics and online teaching platform, this research explored and practiced an integrated curriculum reform mode. This mode is guided by scientific research and education, based on the course development, and driven by communication and cooperation. A shared space of "exchange, practice, openness and informatization" was developed to achieve free and independent integration of undergraduate and graduate teaching motivated by learning knowledge, resulting in an effective student training.

Research progress of m6A methylation in prostate cancer / 亚洲男科学杂志(英文版)

N6-methyladenosine (m6A) is a ubiquitous RNA modification in mammals. This modification is "written" by methyltransferases and then "read" by m6A-binding proteins, followed by a series of regulation, such as alternative splicing, translation, RNA stability, and RNA translocation. At last, the modification is "erased" by demethylases. m6A modification is essential for normal physiological processes in mammals and is also a very important epigenetic modification in the development of cancer. In recent years, cancer-related m6A regulation has been widely studied, and various mechanisms of m6A regulation in cancer have also been recognized. In this review, we summarize the changes of m6A modification in prostate cancer and discuss the effect of m6A regulation on prostate cancer progression, aiming to profile the potential relevance between m6A regulation and prostate cancer development. Intensive studies on m6A regulation in prostate cancer may uncover the potential role of m6A methylation in the cancer diagnosis and cancer therapy.

Research Progress on Molecular Biology of Human Height Estimation / 法医学杂志

As an important anthropometric characteristic, human height not only contributes to the recognition of other anthropological characteristics and genetic risk factors, but also is an important part of forensic DNA phenotyping studies. Accurate estimation of height can provide more complete information about the phenotype of suspects and provide help to solve cases. In recent years, having benefited from the rapid development of molecular biological techniques and bioinformatics, height-related genetics research has made some progress. This paper describes the research progress of human height estimation from the genetic variation and the epigenetic inheritance perspectives and looks into the future research direction.

Research progress in the molecular biological mechanism of 125I seed in the treatment of malignant tumors / 介入放射学杂志

Interstitial implantation of 125I seeds is a kind of continuous low-dose-rate internal irradiation therapy,and it has been used in the treatment of various malignant tumors.In recent years,molecular biology research on the treatment of malignant tumors with 125I seeds has been gradually carried out and deepened.In addition to damaging DNA,125I seeds also act on the endoplasmic reticulum and mitochondria,and then,through multiple signaling pathways,induce tumor cells apoptosis and paraptosis,promote cytoprotective autophagy,and inhibit epithelial-mesenchymal transition of tumor cells.Moreover,125I seeds can also improve the tumor microenvironment.125I seeds can suppress tumor growth by inhibiting tumor microvessels and activating the immune response.This paper reviews the above-mentioned biological effects and related molecular mechanisms induced by 125I seeds,aiming to provide ideas for future mechanism research and combination therapy.(J Intervent Radiol,2023,32:1263-1268)

Characterization of pathogenic infections in bronchiectasis and advances in precise diagnosis and anti-infective therapy / 中国综合临床

Bronchiectasis is a complex and heterogeneous group of diseases with their own characteristics in terms of etiology, symptoms, infections and inflammation, among which infections are both the most common cause of bronchiectasis and the most important factor contributing to the progression of the disease and affecting the prognosis. The current paper will focus on the characterization, diagnosis and treatment of pathogenic bacteria in bronchiectasis.

Advances in molecular mechanisms of Metformin against aging / 中华老年医学杂志

Diabetes is a prevalent disease among the elderly population.Among the antidiabetic drugs, Metformin is the most commonly used, and has been found to have unique anti-aging effects through nutritional sensing regulation, maintenance of protein homeostasis, protection of mitochondrial function, alteration of intercellular communication, and telomere protection, among other mechanisms.The results of studies have shown that Metformin has significant anti-aging potential, thereby necessitating a thorough analysis and summary of its molecular mechanism and research progress in this regard.

Progress in research on detection techniques for peste des petits ruminants virus / 中国生物制品学杂志

@#Peste des petits ruminants(PPR)is an acute and highly contagious disease caused by peste des petits ruminants virus(PPRV),which mainly infects goats and sheep with high morbidity and mortality. Because of its serious pathological damage and wide spread,PPR has caused huge economic losses to the aquaculture industry and international trade in various countries,so it is particularly important to establish a rapid and accurate detection method for the prevention and control of the disease. This paper reviews the progress in research on biological detection techniques for PPRV detection,such as routine RT-PCR,routine multiplex PCR,real-time fluorence quantitative PCR(RT-qPCR),pyrosequencing,nested PCR(nPCR),loop-mediated isothermal amplification(LAMP)and recombinase polymerase amplification(RPA),so as to provide bases and ideas for scientific detection and identification of PPRV.

Effect of circRNA on breast cancer metastasis / 国际外科学杂志

Breast cancer is the most common malignant tumor in women, and metastasis is the main cause of death in breast cancer patients. Circular RNA (circRNA) is prevalent, abundant in organisms, and are characterized by their stable structure, conserved sequences, and specific expression. CircRNA have emerged as crucial regulators in diverse human cancers including breast cancer. Increasing evidence suggests that circRNA are aberrantly expressed in tissues and cell lines of breast cancer and involved in breast cancer metastasis. However, systematic knowledge regarding circRNA involvement in metastatic breast cancer remains unclear. This review outline functional circRNA associated with breast cancer metastasis and discuss their underlying mechanisms, providing new ideas for early prediction, diagnosis and treatment of breast cancer metastasis in the future.