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1.
Siglo cero (Madr.) ; 54(4): 49-64, oct.-dic. 2024. tab, graf
Artículo en Español | IBECS | ID: ibc-EMG-558

RESUMEN

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)


The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)


Asunto(s)
Humanos , Adulto Joven , Adulto , Discapacidad Intelectual , Calidad de Vida , Personas con Discapacidad , Chile , Muestreo
2.
Siglo cero (Madr.) ; 54(4): 49-64, oct.-dic. 2024. tab, graf
Artículo en Español | IBECS | ID: ibc-229228

RESUMEN

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)


The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)


Asunto(s)
Humanos , Adulto Joven , Adulto , Discapacidad Intelectual , Calidad de Vida , Personas con Discapacidad , Chile , Muestreo
3.
An. psicol ; 40(2): 335-343, May-Sep, 2024. tab
Artículo en Inglés | IBECS | ID: ibc-232726

RESUMEN

El presente estudio investigó si la satisfacción con la vida se predice a partir de la felicidad subjetiva, afectos positivos y negativos, alteración psicológica y emociones de gratitud y si la emoción de gratitud está mediando la relación con la felicidad subjetiva, los afectos y la satisfacción con la vida. Se hicieron correlación de Pearson, pruebas de regresión lineal múltiple y modelos de mediación en una muestra de 1537 adultos españoles, 73.6% mujeres y 26.4% hombres, edad 18-88 años (M = 42.56 años; DT = 16.29). Se halló que las emociones de gratitud median la relación entre felicidad subjetiva y satisfacción con la vida y entre los afectos positivos y la satisfacción con la vida. Los afectos positivos son los que más se relacionan con la satisfacción con la vida, seguidos por la felicidad subjetiva y las emociones de gratitud. Los hombres están más satisfechos con la vida cuando sienten menos afecto negativo. Además, las emociones de gratitud median la relación entre felicidad subjetiva y satisfacción con la vida y entre los afectos positivos y la satisfacción con la vida. La diferencia principal radica en que las emociones de gratitud son más fuertes en las mujeres que en los hombres.(AU)


This study aims to examine the predictability of satisfaction with life on the basis of subjective happiness, positive and negative affect, psy-chological disturbance and emotion of gratitude. It also seeks to assess whether the emotion of gratitude is a mediating variable withsubjective happiness, affect, and satisfaction with life. Statistical analyses of Pearson'scorrelation, multiple linear regression tests, and mediation models were conducted on asample of 1537 Spanish adults, 73.6% were females, 26.4% males, age between 18-88 yearsold (M = 42.56; SD = 16.29). The emo-tions of gratitude were found to mediate therelationship between subjec-tive happiness and satisfaction with life and between positiveaffect and satisfaction with life. Of the variables studied, positive affect is the most related tosatisfaction with life, followed by subjective happiness and emo-tions of gratitude. Maleparticipants are more satisfied with life when they feel the less negative affect. Regardingmediation models, emotions of grat-itude mediate the relationship between subjectivehappiness and satisfac-tion with life and between positive affect and satisfaction with life. Themaindifferenceis thatemotions of gratitudearestronger infemalesthan in males.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Satisfacción Personal , Felicidad , Emociones , Síntomas Afectivos , España
4.
J. optom. (Internet) ; 17(3): [100512], jul.-sept2024. graf, tab
Artículo en Inglés | IBECS | ID: ibc-231875

RESUMEN

Purpose: In children under 20 years, refractive development targets a cycloplegic refractive error of +0.5 to +1.5D, while presbyopes over 40 years generally have non-cycloplegic errors of ≥ +1D. Some papers suggest these periods are separated by a period of myopic refractive error (i.e., ≤ –0.50D), but this remains unclear. Hence, this work investigates the mean cycloplegic refractive error in adults aged between 20 – 40 years. Methods: In 2002 a cross-sectional study with stratified cluster sampling was performed on the population of Tehran, providing cycloplegic and non-cycloplegic refractive error data for the right eyes of 3,576 participants, aged 30.6 ± 18.6 years (range: 1–86 years). After grouping these data into age groups of 5 years, the refractive error histogram of each group was fitted to a Bigaussian function. The mean of the central, emmetropized peak was used to estimate the mean refractive error without the influence of myopia. Results: The mean cycloplegic refractive error at the emmetropized peak decreased from +1.10 ± 0.11D (95 % confidence interval) to +0.50 ± 0.04D before 20 years and remains stable at that value until the age of 50 years. The non-cycloplegic refractive error also sees a stable phase at 0.00 ± 0.04D between 15 – 45 years. After 45 – 50 years both cycloplegic and non-cycloplegic refractive error become more hypermetropic over time, +1.14 ± 0.12D at 75 years. Conclusions: The cycloplegic refractive error in adults is about +0.50D between 20 – 50 years, disproving the existence of the myopic period at those ages.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Visión Ocular , Pruebas de Visión , Errores de Refracción , Emetropía , Estudios Transversales , Irán
5.
Rev. Odontol. Araçatuba (Impr.) ; 45(2): 48-51, maio-ago. 2024. ilus
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-1553297

RESUMEN

INTRODUÇÃO: O manejo dos pacientes vítimas de PAF possui vertentes divergentes a respeito do tratamento cirúrgico, que pode ser realizado de forma imedata ou tardia. Em lesões auto-infligidas, a distância entre a arma e a região acometida é menor, causando consequências estéticas e funcionais mais devastadoras. Aliado ao fato desse tipo de trauma criar uma ferida suja devido à comunicação com a cavidade oral e seios paranasais, o manejo das lesões representam um desafio mesmo à cirurgiões experientes. OBJETIVO: Estre trabalho relata o manejo cirúrgico de uma ferida auto-infligida por arma de fogo que resultou em avulsão dos tecidos moles na região maxilofacial. DESCRIÇÃO DO CASO: Paciente do sexo masculino, 35 anos, vítima de projétil de arma de fogo auto-infligido em região maxilofacial, cursando com extenso ferimento em região de língua e mento. Clinicamente, o paciente não apresentava sinais de fratura em ossos da face. Ambos os ferimentos apresentavam secreção purulenta e o paciente manifestava disfonia devido a grande destruição tecidual. CONSIDERAÇÕES FINAIS: O tratamento de ferimentos por arma de fogo não só é um grande desafio para o cirurgião, como para toda a equipe multidisciplinar requerida para tais casos, visto que não há protocolos bem definidos para o tratamento dessas lesões(AU)


INTRODUCTION: The management of patients who are victims of FAP has divergent aspects regarding surgical treatment, which can be performed immediately or late. In self-inflicted injuries, the distance between the weapon and the affected region is smaller, causing more devastating aesthetic and functional consequences. Allied to the fact that this type of trauma creates a dirty wound due to the communication with the oral cavity and paranasal sinuses, the management of injuries represents a challenge even for experienced surgeons. OBJECTIVE: This paper reports the surgical management of a self-inflicted gunshot wound that resulted in soft tissue avulsion in the maxillofacial region. CASE DESCRIPTION: Male patient, 35 years old, victim of a self-inflicted firearm projectile in the maxillofacial region, coursing with extensive injury in the region of the tongue and chin. Clinically, the patient did not show signs of facial bone fractures. Both wounds had purulent secretion and the patient had dysphonia due to extensive tissue destruction. FINAL CONSIDERATIONS: The treatment of gunshot wounds is not only a great challenge for the surgeon, but also for the entire multidisciplinary team required for such cases, since there are no well-defined protocols for the treatment of these injuries(AU)


Asunto(s)
Humanos , Masculino , Adulto , Lengua/lesiones , Infección de Heridas , Heridas por Arma de Fuego , Paladar Duro/lesiones , Heridas y Lesiones , Heridas Penetrantes , Paladar Duro , Equimosis , Edema , Traumatismos Maxilofaciales
6.
Rev. Odontol. Araçatuba (Impr.) ; 45(2): 34-42, maio-ago. 2024. ilus
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-1553293

RESUMEN

O sorriso gengival possui inúmeras causas, podendo acontecer por motivos esqueléticos, musculares ou por alteração no desenvolvimento dos tecidos de suporte. No entanto, na atualidade, a estética vermelha e a branca têm se apresentado completamente passíveis de transformações e com uma gama de procedimentos cirúrgicos ou não cirúrgicos para sanar as queixas dos pacientes. O objetivo geral deste trabalho é mostrar o poder que a odontologia tem frente às questões estéticas, como, por exemplo, a vergonha de sorrir por não se sentir confortável com os dentes curtos e com uma grande faixa de gengiva sendo exposta. O método utilizado foi um relato de caso. Que descreve todos os passos clínicos do tratamento de um paciente de 40 anos, que estava insatisfeita com o seu sorriso por apresentar erupção passiva alterada juntamente com hiperatividade do lábio superior. O plano de tratamento escolhido foi de realizar a cirurgia de aumento de coroa clínica estético, seguido de clareamento dentário e posteriormente um reposicionamento labial, com ajuda da toxina botulínica. Finalizando, para ajudar na cicatrização, o uso de laserterapia. O resultado de todo o processo cirúrgico envolvido neste trabalho, é satisfação do paciente, materializando o sonho deste, devolvendo segurança e espontaneidade ao sorrir. Pôde-se observar que através da combinação de técnicas cirúrgicas periodontais para tratar o sorriso gengival, obtém-se êxito tanto no sentido científico quanto no biológico, alcançando um sorriso esteticamente mais atrativo(AU)


Gummy smile has numerous causes, which can occur for skeletal or muscular reasons or due to changes in the development of supporting tissues. However, nowadays, the red and white aesthetics have been completely capable of transformation and with a range of surgical or non-surgical procedures to resolve patients' complaints. The general objective of this work is to show the power that dentistry has in the face of aesthetic issues, such as, for example, the shame of smiling due to not feeling comfortable with short teeth and a large strip of gum being exposed. The method used was a case report. Which describes all the clinical steps of the treatment of a 40-year-old patient, who was dissatisfied with her smile due to an altered passive eruption together with hyperactivity of the upper lip. The chosen treatment plan was to perform aesthetic clinical crown augmentation surgery, followed by tooth whitening and later lip repositioning, with the help of botulinum toxin. Finally, to help with healing, the use of laser therapy. The result of the entire surgical process involved in this work is patient satisfaction, materializing the patient's dream, restoring security and spontaneity when smiling. It was observed that through the combination of periodontal surgical techniques to treat gummy smile, success is achieved both in the scientific and biological sense, achieving a more aesthetically attractive smile(AU)


Asunto(s)
Humanos , Femenino , Adulto , Alargamiento de Corona , Procedimientos Quirúrgicos Orales , Estética Dental , Gingivoplastia
7.
Rev. Odontol. Araçatuba (Impr.) ; 45(2): 65-71, maio-ago. 2024. ilus
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-1553300

RESUMEN

A escolha da técnica restauradora desempenha papel fundamental na eficácia e duração de um tratamento reabilitador. O objetivo deste relato de caso foi descrever a utilização da técnica semidireta para a confecção de uma restauração em resina composta em um primeiro molar inferior. A paciente apresentava uma restauração insatisfatória no dente 36, que necessitava ser substituída devido à infiltração por cárie. Optou-se pela técnica semidireta devido à amplitude da cavidade, que envolvia estruturas de suporte, e pela combinação das vantagens das abordagens direta e indireta. O procedimento envolveu a remoção de tecido cariado, a aplicação de hidróxido de cálcio pasta, seguida da aplicação de uma fina camada de ionômero de vidro e, posteriormente, resina fluída para realizar o selamento dentinário. O preparo foi realizado seguindo os princípios necessários. O elemento em questão foi moldado com silicone de adição e o arco antagonista, com alginato. Ambos modelos foram vertidos com silicone para modelos semirrígidos e montados em oclusor de peças de brinquedo. A restauração semidireta foi confeccionada em resina composta Filtek Z350 XT, respeitando a anatomia do dente 36. Pigmentos foram utilizados para aprimorar detalhes estéticos. Após acabamento e polimento, a peça foi condicionada e cimentada com cimento dual Relyx Ultimate. Pode-se concluir que a abordagem restauradora por meio da técnica semidireta construída em modelo semirrígido é uma opção terapêutica conservadora e vantajosa para dentes com extensa destruição coronária. Essa técnica possibilita a restauração de forma eficaz, garantindo tanto a estética quanto a função adequada do dente afetado(AU)


The choice of restorative technique plays a fundamental role in the effectiveness and duration of rehabilitation treatment. The objective of this case report was to describe the use of the semi-direct technique to create a composite resin restoration in a lower first molar. The patient had an unsatisfactory restoration on tooth 36, which needed to be replaced due to cavity infiltration. The semi-direct technique was chosen due to the amplitude of the cavity, which involved support structures, and the combination of advantages of the direct and indirect approaches. The procedure involved the removal of carious tissue, and the application of calcium hydroxide paste, followed by the application of a thin layer of glass ionomer and, subsequently, fluid resin to seal the dentin. The preparation was carried out following the necessary principles. The element in question was molded with addition silicone and the antagonist arch was molded with alginate. Both models were poured with silicone for semi-rigid models and mounted on toy parts occluders. The semi-direct restoration was made in Filtek Z350 XT composite resin, respecting the anatomy of tooth 36. Pigments were used to improve aesthetic details. After finishing and polishing, the piece was conditioned and cemented with Relyx Ultimate dual cement. It can be concluded that the restorative approach using the semi-direct technique built on a semi-rigid model is a conservative and advantageous therapeutic option for teeth with extensive coronal destruction. This technique allows for effective restoration, ensuring both the aesthetics and adequate function of the affected tooth(AU)


Asunto(s)
Humanos , Femenino , Adulto , Preparación de la Cavidad Dental , Reparación de Restauración Dental , Cementación , Preparación del Diente , Restauración Dental Permanente
8.
Pharmacogenet. genomics ; 34(4): 91-104, jun.2024.
Artículo en Inglés | CONASS, Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1552919

RESUMEN

OBJECTIVES: This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability. METHODS: Clinical and laboratory data were obtained from 144 adult FH patients treated with statins. A panel of 32 PD genes was analyzed by exon-targeted gene sequencing. Deleterious variants were identified using prediction algorithms and their structural effects were analyzed by molecular modeling studies. RESULTS: A total of 102 variants were predicted as deleterious (83 missense, 8 stop-gain, 4 frameshift, 1 indel, 6 splicing). The variants ABCA1 rs769705621 (indel), LPA rs41267807 (p.Tyr2023Cys) and KIF6 rs20455 (p.Trp719Arg) were associated with reduced low-density lipoprotein cholesterol (LDLc) response to statins, and the LPL rs1801177 (p.Asp36Asn) with increased LDLc response (P < 0.05). LPA rs3124784 (p.Arg2016Cys) was predicted to increase statin response (P = 0.022), and ABCA1 rs769705621 to increase the risk of statin-related adverse events (SRAE) (P = 0.027). LPA p.Arg2016Cys and LPL p.Asn36Asp maintained interactions with solvent, LPA p.Tyr2023Cys reduced intramolecular interaction with Gln1987, and KIF6 p.Trp719Arg did not affect intramolecular interactions. DDMut analysis showed that LPA p.Arg2016Cys and p.Tyr2023Cys and LPL p.Asp36Asn caused energetically favorable changes, and KIF6 p.Trp719Arg resulted in unfavorable energetic changes, affecting protein stability. CONCLUSION: Deleterious variants in ABCA1, LPA, LPL and KIF6 are associated with variability in LDLc response to statins, and ABCA1 rs769705621 is associated with SRAE risk in FH patients. Molecular modeling studies suggest that LPA p.Tyr2023Cys and KIF6 p.Trp719Arg disturb protein conformational structure and stability.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Transportador 1 de Casete de Unión a ATP , Hiperlipoproteinemia Tipo II , Lipoproteína Lipasa
9.
Arq Neuropsiquiatr ; 82(5): 1-10, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38843846

RESUMEN

BACKGROUND: The diagnosis of Hansen disease (HD) can be difficult when acid-fast bacilli are not detected in the patient's skin sample. OBJECTIVE: To demonstrate that detailed morphological analysis of nonspecific inflammatory and/or noninflammatory alterations in dermal nerves as well as skin adnexa in leprosy-suspected biopsy samples could improve the efficacy of histopathological diagnosis. METHODS: Patients with one to five skin lesions were enrolled in the study and classified into three groups by skin histopathology findings: Hansen disease (HD, n = 13), other diseases (OD, n = 11), and inconclusive cases (INC, n = 11). We quantified dermal nerve damage via the nerve lesion index (NLI) and PGP9.5-immunoreactive axon quantitative index in dermal nerves (AQI). We also measured inflammatory involvement of adnexa in cutaneous samples as indirect evidence of HD. RESULTS: We observed a higher median endoneurial inflammatory infiltrate NLI (HD = 0.5; INC = 0; OD = 0; p < 0.001) and more frequent inflammatory involvement of skin adnexa in samples of the HD group compared with those of the INC and OD groups (HD = 7; INC = 1; OD = 0). However, samples from the INC and OD groups also showed inflammatory and noninflammatory damage of dermal nerves, with 2 or more kinds of alterations in nerves in the same sample (respectively: INC = in 1 and 2 samples; OD = in 3 and 5 respectively). The quantification of PGP9.5-immunoreactive axons in dermal nerves revealed no difference between the groups. CONCLUSION: A detailed morphological analysis of cutaneous nerves in lesions with a suspicion of HD enabled us to select patients with nonspecific inflammatory or non-inflammatory lesions in the dermal nerves in the INC and OD groups, so they may be clinically monitored aiming at a possible future diagnosis of the disease. These INC and OD patients cannot have the HD diagnosis definitely excluded, and HD may coexist with another disease as a comorbidity.


ANTECEDENTES: A hanseníase pode ter o seu diagnóstico histopatológico dificultado quando bacilos álcool-ácido resistentes não são encontrados nas amostras de pele dos pacientes. OBJETIVO: Demonstrar que uma análise morfológica detalhada de alterações histopatológicas dos nervos dérmicos pode aumentar a eficácia diagnóstica. MéTODOS: Foram selecionadas amostras de pele de pacientes com uma a cinco lesões suspeitas de hanseníase. Os casos selecionados foram classificados conforme achados histopatológicos: hanseníase (HD, n = 13), casos inconclusivos (INC, n = 11), e outras doenças (OD, n = 11). Quantificamos as lesões dos nervos cutâneos por meio do índice de lesão de nervos (nerve lesion index, NLI, em inglês) e do índice quantitativo de axônios (axon quantitative index, AQI, em inglês) imunorreativos a PGP9.5 nos nervos cutâneos. Também medimos o envolvimento inflamatório dos anexos em amostras de pele como evidência indireta de hanseníase. RESULTADOS: Foram observadas no grupo HD medianas mais altas do NLI com relação a infiltrados inflamatórios endoneurais (HD = 0,5; INC = 0; OD = 0; p < 0,001) e mais alta frequência de acometimento inflamatório de anexos cutâneos (HD = 7; INC = 1; OD = 0). Entretanto, as amostras dos grupos INC e OD também mostraram comprometimento inflamatório e não inflamatório dos nervos cutâneos, com 2 ou mais tipos de alterações de nervos na mesma amostra (respectivamente: INC = 1 e 2; OD = 3 e 5). Não houve diferença significativa na quantidade de axônios endoneurais imunorreativos a PGP9.5 entre os grupos. CONCLUSãO: A análise morfológica detalhada dos nervos cutâneos em lesões suspeitas de hanseníase permitiu selecionar pacientes com lesões inespecíficas inflamatórias ou não inflamatórias nos nervos dérmicos nos grupos INC e OD, para que sejam monitorados clinicamente visando um possível diagnóstico futuro da doença. Esses pacientes INC e OD não podem ter o diagnóstico de HD definitivamente excluído, e a hanseníase pode coexistir com outra doença como uma comorbidade.


Asunto(s)
Inmunohistoquímica , Lepra , Piel , Humanos , Masculino , Femenino , Lepra/patología , Lepra/complicaciones , Persona de Mediana Edad , Adulto , Piel/inervación , Piel/patología , Biopsia , Anciano , Adulto Joven , Ubiquitina Tiolesterasa/análisis , Adolescente , Estadísticas no Paramétricas
10.
Biomed Environ Sci ; 37(5): 457-470, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38843919

RESUMEN

Objective: This study aimed to comprehensively analyze and compare the clinicopathological features and prognosis of Chinese patients with human epidermal growth factor receptor 2 (HER2)-low early breast cancer (BC) and HER2-IHC0 BC. Methods: Patients diagnosed with HER2-negative BC ( N = 999) at our institution between January 2011 and December 2015 formed our study population. Clinicopathological characteristics, association between estrogen receptor (ER) expression and HER2-low, and evolution of HER2 immunohistochemical (IHC) score were assessed. Kaplan-Meier method and log-rank test were used to compare the long-term survival outcomes (5-year follow-up) between the HER2-IHC0 and HER2-low groups. Results: HER2-low BC group tended to demonstrate high expression of ER and more progesterone receptor (PgR) positivity than HER2-IHC0 BC group ( P < 0.001). The rate of HER2-low status increased with increasing ER expression levels (Mantel-Haenszel χ 2 test, P < 0.001, Pearson's R = 0.159, P < 0.001). Survival analysis revealed a significantly longer overall survival (OS) in HER2-low BC group than in HER2-IHC0 group ( P = 0.007) in the whole cohort and the hormone receptor (HR)-negative group. There were no significant differences between the two groups in terms of disease-free survival (DFS). The discordance rate of HER2 IHC scores between primary and metastatic sites was 36.84%. Conclusion: HER2-low BC may not be regarded as a unique BC group in this population-based study due to similar clinicopathological features and prognostic roles.


Asunto(s)
Neoplasias de la Mama , Receptor ErbB-2 , Humanos , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Neoplasias de la Mama/mortalidad , Neoplasias de la Mama/genética , Femenino , Receptor ErbB-2/metabolismo , Receptor ErbB-2/genética , Persona de Mediana Edad , Pronóstico , Adulto , China/epidemiología , Anciano , Receptores de Estrógenos/metabolismo , Receptores de Estrógenos/genética , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/genética , Pueblos del Este de Asia
11.
Biomed Environ Sci ; 37(5): 494-502, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38843922

RESUMEN

Objective: To explore characteristics of clinical parameters and cytokines in patients with drug-induced liver injury (DILI) caused by different drugs and their correlation with clinical indicators. Method: The study was conducted on patients who were up to Review of Uncertainties in Confidence Assessment for Medical Tests (RUCAM) scoring criteria and clinically diagnosed with DILI. Based on Chinese herbal medicine, cardiovascular drugs, non-steroidal anti-inflammatory drugs (NSAIDs), anti-infective drugs, and other drugs, patients were divided into five groups. Cytokines were measured by Luminex technology. Baseline characteristics of clinical biochemical indicators and cytokines in DILI patients and their correlation were analyzed. Results: 73 patients were enrolled. Age among five groups was statistically different ( P = 0.032). Alanine aminotransferase (ALT) ( P = 0.033) and aspartate aminotransferase (AST) ( P = 0.007) in NSAIDs group were higher than those in chinese herbal medicine group. Interleukin-6 (IL-6) and tumor necrosis factor alpha (TNF-α) in patients with Chinese herbal medicine (IL-6: P < 0.001; TNF-α: P < 0.001) and cardiovascular medicine (IL-6: P = 0.020; TNF-α: P = 0.001) were lower than those in NSAIDs group. There was a positive correlation between ALT ( r = 0.697, P = 0.025), AST ( r = 0.721, P = 0.019), and IL-6 in NSAIDs group. Conclusion: Older age may be more prone to DILI. Patients with NSAIDs have more severe liver damage in early stages of DILI, TNF-α and IL-6 may partake the inflammatory process of DILI.


Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas , Citocinas , Humanos , Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Masculino , Femenino , Persona de Mediana Edad , Citocinas/sangre , Citocinas/metabolismo , Adulto , Anciano , Antiinflamatorios no Esteroideos/efectos adversos , Medicamentos Herbarios Chinos/efectos adversos , Alanina Transaminasa/sangre
12.
Biomed Environ Sci ; 37(5): 471-478, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38843920

RESUMEN

Objective: Little is known about the association between whole-blood nicotinamide adenine dinucleotide (NAD +) levels and nabothian cysts. This study aimed to assess the association between NAD + levels and nabothian cysts in healthy Chinese women. Methods: Multivariate logistic regression analysis was performed to analyze the association between NAD + levels and nabothian cysts. Results: The mean age was 43.0 ± 11.5 years, and the mean level of NAD + was 31.3 ± 5.3 µmol/L. Nabothian cysts occurred in 184 (27.7%) participants, with single and multiple cysts in 100 (15.0%) and 84 (12.6%) participants, respectively. The total nabothian cyst prevalence gradually decreased from 37.4% to 21.6% from Q1 to Q4 of NAD + and the prevalence of single and multiple nabothian cysts also decreased across the NAD + quartiles. As compared with the highest NAD + quartile (≥ 34.4 µmol/L), the adjusted odds ratios with 95% confidence interval of the NAD + Q1 was 1.89 (1.14-3.14) for total nabothian cysts. The risk of total and single nabothian cysts linearly decreased with increasing NAD + levels, while the risk of multiple nabothian cysts decreased more rapidly at NAD + levels of 28.0 to 35.0 µmol/L. Conclusion: Low NAD + levels were associated with an increased risk of total and multiple nabothian cysts.


Asunto(s)
NAD , Humanos , Femenino , Adulto , Persona de Mediana Edad , NAD/sangre , NAD/metabolismo , Quistes/sangre , Quistes/epidemiología , China/epidemiología
13.
Biomed Environ Sci ; 37(5): 503-510, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38843923

RESUMEN

Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL. Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing. Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1. Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.


Asunto(s)
Canal Anal , Cromosomas Humanos X , Linaje , Adulto , Femenino , Humanos , Masculino , Canal Anal/anomalías , China , Deleción Cromosómica , Cromosomas Humanos X/genética , Pueblos del Este de Asia/genética , Esófago/anomalías , Cardiopatías Congénitas , Riñón/anomalías , Deformidades Congénitas de las Extremidades/genética , Columna Vertebral/anomalías , Tráquea/anomalías
18.
Ann Oncol ; 35(6): 537-548, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38844309

RESUMEN

BACKGROUND: Nivolumab plus ipilimumab demonstrated promising clinical activity and durable responses in sorafenib-treated patients with advanced hepatocellular carcinoma (HCC) in the CheckMate 040 study at 30.7-month median follow-up. Here, we present 5-year results from this cohort. PATIENTS AND METHODS: Patients were randomized 1 : 1 : 1 to arm A [nivolumab 1 mg/kg plus ipilimumab 3 mg/kg Q3W (four doses)] or arm B [nivolumab 3 mg/kg plus ipilimumab 1 mg/kg Q3W (four doses)], each followed by nivolumab 240 mg Q2W, or arm C (nivolumab 3 mg/kg Q2W plus ipilimumab 1 mg/kg Q6W). The primary objectives were safety, tolerability, investigator-assessed objective response rate (ORR), and duration of response (DOR) per RECIST version 1.1. RESULTS: A total of 148 patients were randomized across treatment arms. At 60-month minimum follow-up (62.6-month median follow-up), the ORR was 34% (n = 17), 27% (n = 13), and 29% (n = 14) in arms A, B, and C, respectively. The median DOR was 51.2 months [95% confidence interval (CI) 12.6 months-not estimable (NE)], 15.2 months (95% CI 7.1 months-NE), and 21.7 months (95% CI 4.2 months-NE), respectively. The median overall survival (OS) was 22.2 months (34/50; 95% CI 9.4-54.8 months) in arm A, 12.5 months (38/49; 95% CI 7.6-16.4 months) in arm B, and 12.7 months (40/49; 95% CI 7.4-30.5 months) in arm C; 60-month OS rates were 29%, 19%, and 21%, respectively. In an exploratory analysis of OS by response (6-month landmark), the median OS was meaningfully longer for responders versus nonresponders for all arms. No new safety signals were identified with longer follow-up. There were no new discontinuations due to immune-mediated adverse events since the primary analysis. CONCLUSIONS: Consistent with the primary analysis, the arm A regimen of nivolumab plus ipilimumab continued to demonstrate clinically meaningful responses and long-term survival benefit, with no new safety signals in patients with advanced HCC following sorafenib treatment, further supporting its use as a second-line treatment in these patients.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica , Carcinoma Hepatocelular , Ipilimumab , Neoplasias Hepáticas , Nivolumab , Sorafenib , Humanos , Carcinoma Hepatocelular/tratamiento farmacológico , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/mortalidad , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/mortalidad , Ipilimumab/administración & dosificación , Ipilimumab/efectos adversos , Nivolumab/administración & dosificación , Nivolumab/efectos adversos , Sorafenib/administración & dosificación , Sorafenib/efectos adversos , Sorafenib/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Estudios de Seguimiento , Anciano de 80 o más Años
19.
BMJ Case Rep ; 17(6)2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844357

RESUMEN

Multiple myeloma associated with extramedullary plasmacytoma at initial presentation is rare. We describe a case of a man in his 30s who initially presented with symptoms of spinal cord compression. Further imaging revealed a mediastinal tumour, with a biopsy confirming plasmacytoma. Immunofixation revealed IgA lambda paraprotein. Bone marrow biopsy demonstrated atypical T-cell cytotoxic proliferation and trilineage hypoplasia. The patient was diagnosed with extramedullary plasmacytoma with active IgA multiple myeloma. The patient received mediastinal radiation to the tumour, followed by anti-myeloma therapy. This diagnosis is critical as managing a solitary plasmacytoma drastically differs from an extramedullary plasmacytoma with active multiple myeloma.


Asunto(s)
Inmunoglobulina A , Neoplasias del Mediastino , Mieloma Múltiple , Plasmacitoma , Compresión de la Médula Espinal , Humanos , Masculino , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/diagnóstico por imagen , Plasmacitoma/diagnóstico , Plasmacitoma/complicaciones , Plasmacitoma/diagnóstico por imagen , Neoplasias del Mediastino/complicaciones , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/diagnóstico , Adulto , Imagen por Resonancia Magnética , Diagnóstico Diferencial
20.
BMJ Case Rep ; 17(6)2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844356

RESUMEN

A man in his 40s presented to the emergency department after 2 weeks of abdominal pain and bloating. Radiological investigations revealed multiple unusual sites of thrombosis, including large thrombi in his portal and mesenteric veins, and a left ventricular thrombus with resultant embolic infarcts to his spleen, kidneys, coronary arteries and brain. Standard causes of underlying thrombophilia were excluded. A serum protein electrophoresis and serum-free light chains, with subsequent bone marrow biopsy, lead to the diagnosis of smouldering multiple myeloma (sMM), albeit an unusual presentation with severe clinical sequelae. Although sMM is known to be associated with an increased risk of venous thromboembolism, it is not recognised to cause thrombosis in both venous and arterial vascular beds simultaneously. Physicians encountering patients with multiple thrombi in unusual vascular beds without clear aetiology should consider an underlying monoclonal gammopathy in their list of differentials.


Asunto(s)
Mieloma Múltiple , Humanos , Masculino , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico , Trombosis de la Vena/etiología , Trombosis de la Vena/diagnóstico por imagen , Adulto , Trombosis/etiología , Trombosis/diagnóstico por imagen , Trombosis/diagnóstico , Paraproteinemias/complicaciones , Paraproteinemias/diagnóstico , Diagnóstico Diferencial
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