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Abstract Objective To evaluate the effects of rosacea on ocular surface changes such as alterations in dry eye parameters, corneal densitometry, and aberrations, in comparison with healthy controls. Methods A total of 88 eyes of 44 patients diagnosed with rosacea and 88 eyes of 44 healthy controls were enrolled in this cross-sectional study. All participants underwent a comprehensive dermatologic and ophthalmic examination and Tear Break-Up Time (TBUT) and Schirmer-1 tests were performed. The rosacea subtype and Demodex count and OSDI scores of all participants were recorded. Corneal topographic, densitometric, and aberrometric measurements were obtained using the Scheimpflug imaging system. Results The mean age of the 44 patients was 41.2 ± 11.0 years of whom 31 (70.5%) were female. The mean TBUT and Schirmer-1 test values were significantly decreased and OSDI scores were significantly increased in the rosacea group compared to healthy controls (p < 0.01 for all). The most common subtype of rosacea was erythematotelangiectatic rosacea (70.4%). The severity grading of rosacea revealed that 18 (40.9%) patients had moderate erythema. The median (min-max) Demodex count was 14.0 (0-120) and the disease duration was 24.0 (5-360) months. The comparison of the corneal densitometry values revealed that the densitometry measurements in all concentric zones, especially in central and posterior zones were higher in rosacea patients. Corneal aberrometric values in the posterior surface were also lower in the rosacea group compared to healthy controls. The topographic anterior chamber values were significantly lower in the rosacea group. Study limitations Relatively small sample size, variable time interval to hospital admission, and lack of follow-up data are among the limitations of the study. Future studies with larger sample sizes may also enlighten the mechanisms of controversial anterior segment findings by evaluating rosacea patients who have uveitis and those who do not. Conclusion Given the fact that ocular signs may precede cutaneous disease, rosacea is frequently underrecognized by ophthalmologists. Therefore, a comprehensive examination of the ocular surface and assessment of the anterior segment is essential. The main priority of the ophthalmologist is to treat meibomian gland dysfunction and Demodex infection to prevent undesired ocular outcomes.
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Acute myeloid leukemia (AML) is a diverse malignancy originating from myeloid progenitor cells, with significant genetic and clinical variability. Modern classification systems like those from the World Health Organization (WHO) and European LeukemiaNet use immunophenotyping, molecular genetics, and clinical features to categorize AML subtypes. This classification highlights crucial genetic markers such as FLT3, NPM1 mutations, and MLL-AF9 fusion, which are essential for prognosis and directing targeted therapies. The MLL-AF9 fusion protein is often linked with therapy-resistant AML, highlighting the risk of relapse due to standard chemotherapeutic regimes. In this sense, factors like the ZEB, SNAI, and TWIST gene families, known for their roles in epithelial-mesenchymal transition (EMT) and cancer metastasis, also regulate hematopoiesis and may serve as effective therapeutic targets in AML. These genes contribute to cell proliferation, differentiation, and extramedullary hematopoiesis, suggesting new possibilities for treatment. Advancing our understanding of the molecular mechanisms that promote AML, especially how the bone marrow microenvironment affects invasion and drug resistance, is crucial. This comprehensive insight into the molecular and environmental interactions in AML emphasizes the need for ongoing research and more effective treatments.
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Objective: To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities. Methods: We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding. Results: Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations. Conclusion: The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.
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Aborto Habitual , Centros de Atenção Terciária , Humanos , Aborto Habitual/genética , Aborto Habitual/epidemiologia , Feminino , Brasil/epidemiologia , Adulto , Masculino , Prevalência , Gravidez , Aberrações Cromossômicas , Cariotipagem , Estudos Retrospectivos , Adulto Jovem , Cariótipo AnormalRESUMO
Hodgkin lymphoma (HL) is one of the most common lymphomas, with an incidence of 3 per 100,000 persons. Current treatment uses a cocktail of genotoxic agents, including adriamycin, bleomycin, vinblastine, and dacarbazine (ABVD), along with or without radiotherapy. This treatment regimen has proved to be efficient in killing cancer cells, resulting in HL patients having a survival rate of >90% cancer-free survival at five years. However, this therapy does not have a specific cell target, and it can induce damage in the genome of non-cancerous cells. Previous studies have shown that HL survivors often exhibit karyotypes characterized by complex chromosomal abnormalities that are difficult to analyze by conventional banding. Multicolor fluorescence in situ hybridization (M-FISH) is a powerful tool to analyze complex karyotypes; we used M-FISH to investigate the presence of chromosomal damage in peripheral blood lymphocytes from five healthy individuals and five HL patients before, during, and one year after anti-cancer treatment. Our results show that this anti-cancer treatment-induced genomic chaos that persists in the hematopoietic stem cells from HL patients one year after finishing therapy. This chromosomal instability may play a role in the occurrence of second primary cancers that are observed in 10% of HL survivors. This chapter will describe a protocol for utilizing M-FISH to study treatment-induced genome chaos in Hodgkin's lymphoma (HL) patients, following a brief discussion.
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Doença de Hodgkin , Hibridização in Situ Fluorescente , Doença de Hodgkin/genética , Doença de Hodgkin/terapia , Humanos , Hibridização in Situ Fluorescente/métodos , Aberrações Cromossômicas/efeitos da radiação , Doxorrubicina/uso terapêutico , Genoma Humano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Instabilidade Cromossômica , Linfócitos/efeitos da radiação , Linfócitos/efeitos dos fármacos , Linfócitos/metabolismo , Bleomicina/uso terapêuticoRESUMO
OBJECTIVE: To evaluate the effects of rosacea on ocular surface changes such as alterations in dry eye parameters, corneal densitometry, and aberrations, in comparison with healthy controls. METHODS: A total of 88 eyes of 44 patients diagnosed with rosacea and 88 eyes of 44 healthy controls were enrolled in this cross-sectional study. All participants underwent a comprehensive dermatologic and ophthalmic examination and Tear Break-Up Time (TBUT) and Schirmer-1 tests were performed. The rosacea subtype and Demodex count and OSDI scores of all participants were recorded. Corneal topographic, densitometric, and aberrometric measurements were obtained using the Scheimpflug imaging system. RESULTS: The mean age of the 44 patients was 41.2⯱â¯11.0 years of whom 31 (70.5%) were female. The mean TBUT and Schirmer-1 test values were significantly decreased and OSDI scores were significantly increased in the rosacea group compared to healthy controls (pâ¯<â¯0.01 for all). The most common subtype of rosacea was erythematotelangiectatic rosacea (70.4%). The severity grading of rosacea revealed that 18 (40.9%) patients had moderate erythema. The median (min-max) Demodex count was 14.0 (0-120) and the disease duration was 24.0 (5-360) months. The comparison of the corneal densitometry values revealed that the densitometry measurements in all concentric zones, especially in central and posterior zones were higher in rosacea patients. Corneal aberrometric values in the posterior surface were also lower in the rosacea group compared to healthy controls. The topographic anterior chamber values were significantly lower in the rosacea group. STUDY LIMITATIONS: Relatively small sample size, variable time interval to hospital admission, and lack of follow-up data are among the limitations of the study. Future studies with larger sample sizes may also enlighten the mechanisms of controversial anterior segment findings by evaluating rosacea patients who have uveitis and those who do not. CONCLUSION: Given the fact that ocular signs may precede cutaneous disease, rosacea is frequently underrecognized by ophthalmologists. Therefore, a comprehensive examination of the ocular surface and assessment of the anterior segment is essential. The main priority of the ophthalmologist is to treat meibomian gland dysfunction and Demodex infection to prevent undesired ocular outcomes.
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Córnea , Topografia da Córnea , Rosácea , Humanos , Rosácea/diagnóstico por imagem , Feminino , Estudos Transversais , Adulto , Masculino , Pessoa de Meia-Idade , Córnea/diagnóstico por imagem , Córnea/patologia , Estudos de Casos e Controles , Topografia da Córnea/métodos , Densitometria/métodos , Índice de Gravidade de Doença , Segmento Anterior do Olho/diagnóstico por imagem , Síndromes do Olho Seco/diagnóstico por imagem , Valores de Referência , Estatísticas não ParamétricasRESUMO
Among the compounds present in necro-leachate, a liquid released during the process of decomposition of the human body, are the biogenic amines cadaverine and putrescine. Although some studies on necro-leachate have indicated a potential ecotoxicological and public health risk associated with it, the research on this type of contamination is still rather limited. This study presents information about the phytotoxic and cytogenotoxic potential of cadaverine and putrescine, evaluated separately and within a mixture. Phytotoxicity was evaluated through a germination test, the initial growth of seedlings with Lactuca sativa, and cytogenotoxicity through chromosomal aberration and micronucleus tests with Allium cepa. The L. sativa results showed a phytotoxic effect for the evaluated amines, by reducing root (> 90%) and hypocotyl (> 80%) elongation. The co-exposure of cadaverine and putrescine potentiated cytogenotoxic activity by aneugenic action in the meristematic cells of A. cepa. From this result, it is possible to infer the eco-toxicogenic potential of cadaverine and putrescine. This study not only highlights the importance of the phytotoxic and cytogenotoxic effects of these amines but also emphasizes the urgent need for further investigation into contamination originating from cemetery environments. By evaluating the risks associated with necro-leachate, this research is aimed at informing global efforts to protect ecological and public health.
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Aminas Biogênicas , Cadaverina , Putrescina , Aminas Biogênicas/toxicidade , Lactuca/efeitos dos fármacos , Cebolas/efeitos dos fármacos , Germinação/efeitos dos fármacosRESUMO
Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.
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PURPOSE: To analyze higher-order aberrations (HOAs) and their visual impact in a pediatric blepharokeratoconjunctivitis (PBKC) cohort compared with healthy controls. METHODS: Prospective case-control study of pediatric patients (≤ 16 years old). Subjects underwent wavefront aberrometry analysis to compare HOAs and their impact on visual quality. RESULTS: A total of 150 eyes from 76 patients were included in the analysis. The PBKC group consisted of 50 eyes and the control group of 100 healthy eyes. Mean age was 10.39 ± 3.81 years for the PBKC group and 10.80 ± 3.61 years for the controls. Mean corrected-distance visual acuity (CDVA) was 0.24 ± 0.21 logMAR in the PBKC group and 0.07 ± 0.1 in the controls (P < 0.001). Mean astigmatism was 1.6 ± 1.98D in the PBKC group vs. 0.67 ± 0.76D in the control group (P = 0.01). Mean RMS of HOAs was 1.05 ± 1.7mm in the PBKC group and 0.41 ± 0.18mm in the controls (P < 0.001). The mean modulation transfer function (MTF) in the PBKC group was significantly lower (16.37 ± 16.32) than controls (30.3 ± 23.57) (P < 0.001). Corneal leukomas, stromal vascularization, peripheral nummular subepithelial scars, and pannus formation are associated with increased HOAs. CONCLUSIONS: There was a significant increase in total HOAs of eyes with PBKC compared to healthy controls. Corneal opacity, vascularization, and scarring are associated with increased HOAs. The PBKC eye aberration profile: coma, secondary astigmatism, quadrafoil, and pentafoil, were associated with decreased CDVA and visual quality (PSF and MTF).
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Astigmatismo , Opacidade da Córnea , Aberrações de Frente de Onda da Córnea , Humanos , Criança , Adolescente , Estudos de Casos e Controles , Acuidade Visual , Córnea , Refração OcularRESUMO
ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.
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Abstract Objective To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities. Methods We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding. Results Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations. Conclusion The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.
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Humanos , Feminino , Gravidez , Translocação Genética , Aberrações Cromossômicas , Aborto , CariótipoRESUMO
RESUMEN La droga antitumoral Etopósido (ETO) induce rupturas de doble cadena en el ADN (RDC) y promueve el desarrollo de neoplasias secundarias en los pacientes tratados. Dos mecanismos principales, recombinación homóloga (HR) y reunión de extremos no-homólogos clásica (c-NHEJ) reparan las RDC. Cuando HR y c-NHEJ son defectuosas, la vía alternativa de reunión de extremos (alt-EJ) dependiente de PARP-1 está implicada. Se examinó la participación de alt-EJ en la progresión de las RDC inducidas por ETO en la fase G2 de células humanas. Se establecieron células HeLa deficientes en HR (inhibición de cohesina RAD21, HeLa RAD21kd) y su control no-silenciada (HeLa NS). Las células se trataron con ETO en presencia del inhibidor químico de DNA-PKcs (DNA-PKi, c-NHEJ). En ambas líneas celulares, la inducción de RDC (γH2AX+) por ETO en la fase G2 aumentó respecto a sus controles. La reparación incorrecta en células deficientes en DNA-PKcs y RAD21 originó un incremento sinérgico de intercambio de cromátidas y de cromosomas dicéntricos en la primera y segunda metafase, respectivamente. En cambio, la frecuencia de cromosomas dicéntricos se redujo en células deficientes en PARP-1 (HeLa PARP- 1kd) luego del tratamiento con ETO. En células binucleadas HeLa RAD21kd, DNA-PKi/ETO acrecentó el porcentaje de células con ≥20 focos γH2AX en la fase G1-posmitótica y de micronúcleos a las 96 h. Una mayor acumulación en G2/M se observó en HeLa NS tratadas con DNA-PKi/ETO en relación a HeLa RAD21kd a las 8 h. El ciclo celular se reanudó en HeLa NS a las 16 h, sin embargo, la acumulación se mantuvo en HeLa RAD21kd. Los rearreglos cromosómicos obtenidos con DNA-PKcs y RAD21 disfuncionales y su disminución en células HeLa PARP-1kd, sugieren que alt-EJ contribuye a su formación.
ABSTRACT The antitumor drug Etoposide (ETO) induces DNA double-strand breaks (DSB) and is associated with the development of secondary neoplasms in treated patients. DSB are repaired by two main mechanisms, homologous recombination (HR) and classical non-homologous end joining (c-NHEJ). When HR and c-NHEJ are defective, DSB are repaired by the PARP-1-dependent alternative end-joining (alt-EJ) pathway. The involvement of alt-EJ in the progression of DSB induced by ETO in the G2 phase of human cells was analyzed. HeLa cells deficient in HR (cohesin RAD21 inhibition, HeLa RAD21kd) and their nonsilencing control (HeLa NS) were established. Cells were treated with ETO in the presence of a chemical inhibitor of DNA-PKcs (DNA-PKi, c-NHEJ). In both cell lines, ETO-induced DSB (γH2AX+) in G2 phase were increased compared to their controls. The incorrect repair of DSB in DNA-PKcs- and RAD21-deficient cells caused a synergistic augment in chromatid exchanges and dicentric chromosomes in the first and second metaphase, respectively. In contrast, the frequency of dicentric chromosomes was reduced in PARP-1-deficient cells (HeLa PARP-1kd) following ETO treatment. In HeLa RAD21kd binucleated cells, DNA-PKi/ETO increased the percentage of cells with ≥20 γH2AX foci in the G1-postmitotic phase and of micronuclei at 96 h. A greater accumulation in G2/M was observed in HeLa NS treated with DNA-PKi/ ETO compared with HeLa RAD21kd at 8 h. The cell cycle restarted in HeLa NS at 16 h; however, the G2/M accumulation was maintained in HeLa RAD21kd. Chromosomal rearrangements obtained when DNAPKcs and RAD21 were absent and their decrease in HeLa PARP-1kd cells suggest that alt-EJ contributes to their formation.
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Background: Core binding factor acute myeloid leukemia (CBF-AML) comprises t(8;21) and inv(16) and usually has a favorable prognosis. However, a wide spectrum of secondary genetic aberrations has been shown to be associated with worse outcomes with respect to overall survival (OS) and relapse. We aimed to identify secondary molecular and chromosomal aberrations within each group of CBF-AML, i.e., t(8;21) and inv(16), and to evaluate their prognosis with OS. Methods: Using the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer, we analyzed 193 cases of CBF-AML reported between 2011 and 2021. We conducted a survival analysis to determine the 5-year OS, and we conducted univariate and multivariate Cox regression to identify independent genetic factors related to OS. Results: Among the 193 cases with CBF-AML, structural and numerical chromosome rearrangements were 25.9% and 40.9%, respectively, and secondary genetic mutations were 54.9%. The 5-year OS for the presence of del(7) and trisomy 22 was significantly worse. NRAS mutations had a worse 5-year OS in the t(8;21) group in the univariate analysis but showed no significant difference in the multivariate analysis. Conclusions: CBF-AML has heterogeneous cytogenetic characteristics but no difference in the 5-year OS between the inv(16) and t(8;21) groups. Finally, the presence of del(7), trisomy 22 and NRAS mutations showed a potential prognostic impact in CBF-AML patients. Secondary genetic findings may need to be identified to determine its association to a worse prognosis, and in the future develop better targeted therapies in patients with CBF-AML.
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In this study, we investigate the toxicity of commercial formulations based on glyphosate, 2,4-D, imidacloprid, and iprodione, in isolation and mixed, on Allium cepa. The mixtures consisted of combinations in the lowest (M1), intermediate (M2), and highest concentrations (M3) of each pesticide. We measured physiological (germination rate, germination speed, and radicular length) and cyto-genotoxic (mitotic index and frequency of aberrant cells) parameters. In addition, we analyzed the cell cycle progression and cell death induction by flow cytometry. When applied in isolation, the pesticides changed the parameters evaluated. M1 and M2 inhibited root length and increased the frequency of aberrant cells. Their genotoxic effect was equivalent to that of pesticides applied in isolation. Furthermore, M1 and M2 caused cell death and M2 changed the cell cycle progression. M3 had the greatest deleterious effect on A. cepa. This mixture inhibited root length and promoted an additive or synergistic effect on the mitotic index. In addition, M3 changed all parameters analyzed by flow cytometry. This research clearly demonstrates that the pesticides tested, and their mixtures, may pose a risk to non-target organisms.
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Praguicidas , Toxinas Biológicas , Praguicidas/toxicidade , Cebolas , Índice Mitótico , Raízes de Plantas , Dano ao DNA , Aberrações CromossômicasRESUMO
Vanadium is a strategic metal that has many important industrial applications and is generated by the use of burning fossil fuels, which inevitably leads to their release into the environment, mainly in the form of oxides. The wastes generated by their use represent a major health hazard. Furthermore, it has attracted attention because several genotoxicity studies have shown that some vanadium compounds can affect DNA; among the most studied compounds is vanadium pentoxide, but studies in vivo with oxidation states IV and III are scarce and controversial. In this study, the genotoxic and cytotoxic potential of vanadium oxides was investigated in mouse bone marrow cells using structural chromosomal aberration (SCA) and mitotic index (MI) test systems. Three groups were administered vanadium(IV) tetraoxide (V2O4) intraperitoneally at 4.7, 9.4 or 18.8 mg/kg, and three groups were administered vanadium(III) trioxide (V2O3) at 4.22, 8.46 or 16.93 mg/kg body weight. The control group was treated with sterile water, and the positive control group was treated with cadmium(II) chloride (CdCl2). After 24 h, all doses of vanadium compounds increased the percentage of cells with SCA and decreased the MI. Our results demonstrated that under the present experimental conditions and doses, treatment with V2O4 and V2O3 induces chromosomal aberrations and alters cell division in the bone marrow of mice.
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OBJECTIVE: To describe the reproductive and obstetric outcomes of an intracytoplasmic sperm injection cycle with preimplantation genetic testing for aneuploidy in an advanced reproductive-age woman with high-grade mosaic Turner syndrome. METHODS: Case report of a 39-year-old woman diagnosed with mosaic Turner Syndrome 45,X[90]/46,XX[10] karyotype who underwent in vitro fertilization treatment with blastocyst trophectoderm biopsy for preimplantation genetic testing using next-generation sequencing. RESULT(S): Two of the four blastocysts biopsied were euploid. The patient achieved ongoing pregnancy after the first single euploid frozen embryo transfer, followed by the birth of a healthy child. CONCLUSION: Autologous intracytoplasmic sperm injection cycles can be considered in a select group of advanced reproductive-age women diagnosed with high-grade mosaic Turner syndrome.
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Nascido Vivo , Síndrome de Turner , Masculino , Criança , Gravidez , Feminino , Humanos , Adulto , Síndrome de Turner/complicações , Síndrome de Turner/terapia , Sêmen , Transferência Embrionária , Gravidez MúltiplaRESUMO
Objetivo: Caracterizar las aberraciones corneales de bajo orden en pacientes con ametropías miópicas. Métodos: Se realizó un estudio descriptivo, observacional y transversal, con una muestra de 104 ojos de 104 pacientes adultos con ametropías miópicas y un grupo control de 104 ojos de 104 voluntarios emétropes, que asistieron a consulta de Cirugía Refractiva del Instituto Cubano de Oftalmología. Se definieron las variables demográficas, clínicas y para la cuantificación de las aberraciones corneales la elevación-depresión y el valor cuadrático medio, aportadas mediante el mapa aberrométrico del Pentacam HR. Resultados: Hubo un predominio del sexo femenino, el rango de edad estuvo comprendido entre 18 y 39 años en ambos grupos. La mediana del equivalente esférico de los pacientes de ametropías miópicas fue -3,25 dioptrías, con agudeza visual sin corrección de 0,10, esfera de -2,63 D y cilindro de -1,00 D, 91 ojos (87,50 por ciento) tenían astigmatismo miópico compuesto. Los valores de elevación-depresión y el valor cuadrático medio de bajo orden fueron mayores en los pacientes con ametropías miópicas que los emétropes (p< 0,001). El astigmatismo vertical, desenfoque y el astigmatismo horizontal no presentaron diferencia estadísticamente significativa entre ambos grupos. Conclusiones: La miopía con o sin astigmatismo se debe estudiar y tratar como una aberración de bajo orden. Los valores de elevación-depresión y cuadrático medio son superiores en los ojos con ametropías miópicas respecto a los emétropes(AU)
Objective: To characterize low-order corneal aberrations in patients with myopic ametropia. Methods: A descriptive, observational and cross-sectional study was carried out with a sample of 104 eyes of 104 adult patients with myopic ametropia and a control group of 104 eyes of 104 emmetropic volunteers, who attended the Refractive Surgery Clinic of the Cuban Institute of Ophthalmology. Demographic and clinical variables were defined, and for the quantification of corneal aberrations, elevation-depression and average square value, provided by means of the Pentacam HR aberrometric map. Results: There was a predominance of female sex, the age range was between 18 and 39 years in both groups. The median spherical equivalent of myopic ametropia patients was -3.25 diopters, with uncorrected visual acuity of 0.10, sphere of -2.63 D and cylinder of -1.00 D, 91 eyes (87.50 percent) had compound myopic astigmatism. Elevation-depression values and low-order root average square value were higher in patients with myopic ametropes than emmetropes (p< 0.001). Vertical astigmatism, defocus and horizontal astigmatism showed no statistically significant difference between the two groups. Conclusions: Myopia with or without astigmatism should be studied and treated as a low-order aberration. The elevation-depression and average square values are higher in eyes with myopic ametropia than in emmetropic eyes(AU)
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Humanos , Feminino , Adulto , Erros de Refração/etiologia , Epidemiologia Descritiva , Estudos Observacionais como AssuntoRESUMO
The physical and chemical characteristics of the soil can influence plant growth. When sewage sludge (SS) is applied as a soil fertilizer, the accumulation of non-essential elements contained in it can be toxic for plants. The aim of this study was to understand the effect of SS dosage on the cell cycle of Lactuca sativa L. meristematic cells and on the initial growth of L. sativa and Passiflora alata Curtis. Nine concentrations of SS + distilled water (mg dm-3) corresponding to 0, 20, 40, 60, 80, 120, 160, 320, and 520 t ha-1 were tested in four replicates of 25 seeds. Chemical analysis showed an increase in pH of the sludge from 0 to 80 t ha-1 SS followed by its stabilization thereafter. The highest electrical conductivity was observed at 520 t ha-1 SS. SS negatively affected the germination and initial growth of seedlings from P. alata and L. sativa. Cytogenetic analysis on 6000 L. sativa meristematic cells for each treatment revealed that SS could adversely affect the genetic stability of this species. SS concentrations above 120 t ha-1 adversely affected the germination and early seedling growth of L. sativa and P. alata. At high concentrations (120 t ha-1), SS induced genetic lesions in L. sativa, along with chromosomal and nuclear alterations.
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Passiflora , Poluentes do Solo , Esgotos , Lactuca/metabolismo , Passiflora/metabolismo , Mutagênicos , Solo , Plântula , Poluentes do Solo/análise , GerminaçãoRESUMO
Objetivo: Determinar las aberraciones corneales en pacientes con indicación de cirugía refractiva con láser de excímeros. Métodos: Se realizó un estudio retrospectivo, transversal, descriptivo, con 161 ojos de 81 pacientes adultos, de ambos sexos con indicación de cirugía con láser de excímeros para la corrección de su defecto refractivo. Se definieron como variables edad, sexo, desenfoque, astigmatismo, coma, trefoil y aberración esférica, las que se determinaron por el estudio topográfico de rutina con el topógrafo KeratronTM Scout, Optikon. Resultados: Se obtuvieron los siguientes valores promedios: desenfoque -4,17 ± 0,29 D (-16,15 a 8,5 D) y absoluto 4,94 ± 0,199 (10 a 16,5 D), astigmatismo -1,56 ± 0,09 D (-9,44 a -0,09 D), coma 0,25 ± 0,016 (0,01 a 1,5 D), trefoil 0,204 ± 0,016 (0,01 a 1,18 D) y aberración esférica 0,316 ± 0,018 D (0,0 a 1,27D). En el 75 por ciento de los casos los valores absolutos de desenfoque fueron inferiores a 6,56, de astigmatismo inferior a 0,33 D, de coma menor que 0,33, trefoil inferior a 0,25 y aberraciones esféricas menores que 0,32 D. Conclusiones: Los valores promedio de las aberraciones corneales desenfoque, astigmatismo, coma, trefoil y aberración esférica se encuentran en el rango de los valores reportados en la literatura científica y la distribución de los valores de las aberraciones corneales presentan desplazamiento de la mayoría de los casos hacia los valores más bajo del rango de determinación(AU)
Objective: To determine corneal aberrations in patients indicated for excimer laser refractive surgery. Methods: A retrospective, cross-sectional and descriptive study was carried out with 161 eyes of 81 adult patients of both sexes with indication of excimer laser surgery for the correction of their refractive defect. Age, sex, defocus, astigmatism, coma, trefoil and spherical aberration were defined as variables, determined by routine topographic study with the KeratronTM Scout topographer, Optikon. Results: The following average values were obtained: defocus of -4.17 ± 0.29 D (-16.15 to 8.5 D) and absolute of 4.94 ± 0.199 (10 to 16.5 D), astigmatism of -1.56 ± 0.09 D (-9.44 to -0.09 D), coma of 0.25 ± 0.016 (0.01 to 1.5 D), trefoil of 0.204 ± 0.016 (0.01 to 1.18 D) and spherical aberration of 0.316 ± 0.018 D (0.0 to 1.27D). In 75 percent of the cases, the absolute values for defocus were lower than 6.56; for astigmatism, lower than 0.33 D; for coma, lower than 0.33; for trefoil, lower than 0.25; and for spherical aberrations, lower than 0.32 D. Conclusions: The average values of corneal aberrations for defocus, astigmatism, coma, trefoil and spherical aberration are in the range of values reported in the scientific literature, while the distribution of corneal aberrations values present displacement of most of the cases towards the lower values of the determination range(AU)
Assuntos
Humanos , Astigmatismo/etiologia , Topografia da Córnea/métodos , Procedimentos Cirúrgicos Refrativos/métodos , Epidemiologia Descritiva , Estudos Transversais , Estudos RetrospectivosRESUMO
Cytogenetic abnormalities (CA) such as t(4;14), t(14;16), and del(17p), are associated with a poor prognosis in Multiple Myeloma (MM) patients. However, there is scarce information regarding the Latin-American population. This study aims to analyze the impact of t(4;14), t(14;16), and del(17p) on the progression-free survival (PFS) and overall survival (OS) of transplant-eligible newly-diagnosed MM (NDMM) patients in Latin America. Retrospective survival analysis based on the Grupo de Estudio Latinoamericano de MM (GELAMM) registry, including all adult patients with NDMM harboring CA t(4;14), t(14;16), and/or del(17p). Fifty-nine patients were included; the median age was 57 years, 55.9% males, 22% ISS-I, 25.4% ISS-II, and 47.5% ISS-III. The majority (89.8%) had one alteration, whereas 10.2% had del(17p) and t(4;14). The frequencies of CA were del(17p) in 61.0%, t(4;14) in 25.4%, and t(14;16) in 3,4%. Autologous stem cell transplantation was performed in 36 cases, 20 patients did not use this consolidative strategy, and this data was missed in three cases. Five-year OS for the entire cohort was 60.8% and 5-year PFS was 28.1%. Bortezomib-based induction regimen (BBR) (p=0.029), consolidation with ASCT (p<0.001), and maintenance therapy (p=0.004) were associated with an improved 5-year OS. In the multivariate analysis, ASCT was the only variable with a positive impact on OS (HR 0.11, 95% CI 0.033 to 0.34, p<0.001). The median PFS presented a non-statistically significant benefit in BBR, ASCT, and maintenance therapy groups. BBR induction, ASCT, and maintenance therapy were associated with improved OS in high-risk NDMM patients.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Mieloma Múltiplo , Masculino , Adulto , Humanos , Pessoa de Meia-Idade , Feminino , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/genética , Mieloma Múltiplo/terapia , Prognóstico , Estudos Retrospectivos , Transplante Autólogo , Análise de Sobrevida , Aberrações Cromossômicas , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêuticoRESUMO
Objectives: The purpose of this study was to evaluate the mutagenic potential of fluoxetine and fluoxetine-galactomannan. Methods: Chromosomal aberration test and Salmonella typhimurium/microsome mutagenicity assay. Results: The results showed that fluoxetine (250 µg/mL) can cause chromosomal breaks of treated leukocytes and increase the frequency of reversion of the tester strains of S. typhimurium / microsome assay only at the highest concentration (5 mg/mL), while fluoxetine encapsulated in galactomannan did not cause these changes (leukocytes and S. typhimuriums strains). Conclusion: In summary, fluoxetine showed a mutagenic effect detectable only at high concentrations in both eukaryotic and prokaryotic models. Furthermore, the fluoxetine/galactomannan complex, in this first moment, prevented the mutagenicity attributed to fluoxetine, emphasizing that the present encapsulation process can be an alternative in preventing these effects in vitro.
Objetivos: avaliar o potencial mutagênico da fluoxetina e da fluoxetina-galactomanana. Métodos: Teste de aberração cromossômica e ensaio de mutagenicidade de Salmonella typhimurium /microssoma. Resultados: a fluoxetina (250 µg/mL) pode causar quebras cromossômicas de leucócitos tratados e aumentar a frequência de reversão das cepas testadoras de S. typhimurium /microssoma apenas na concentração mais alta (5 mg/mL), enquanto a fluoxetina encapsulada em galactomanano não causou essas alterações (leucócitos e cepas de S. typhimurium). Conclusão: a fluoxetina mostrou um efeito mutagênico detectável apenas em altas concentrações em modelos eucarióticos e procarióticos. Além disso, o complexo fluoxetina/galactomanan, neste primeiro momento, evitou a mutagenicidade atribuída à fluoxetina, ressaltando que o presente processo de encapsulamento pode ser uma alternativa na prevenção desses efeitos in vitro.