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1.
World J Clin Oncol ; 15(8): 1110-1116, 2024 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-39193160

RESUMO

BACKGROUND: Non-Hodgkin's lymphoma (NHL) is a malignant tumor that originates from the lymphoid tissues and can potentially affect numerous organs within the body. Among these, the skin stands out as one of the primary sites affected by NHL, often presenting with multiple extra-nodal manifestations. In this report, we present an unusual case of NHL involving chronic wounds in the lower extremities that were difficult to heal. The scars were successfully treated using radiotherapy in combination with extended excision debridement and peroneal artery perforator flap grafting, resulting in satisfactory outcomes. CASE SUMMARY: A 19-year-old male patient presented with ulceration of the skin on the left calf near the ankle accompanied by purulent discharge. Subsequent pathologic biopsy confirmed a diagnosis of NHL (extranodal NK/T-cell lymphoma, nasal type). Initial treatment comprised local radiotherapy and wound care; however, the wound exhibited prolonged non-healing. Consequently, the patient underwent a series of interventions including radiotherapy, wound enlargement excision debridement, and peroneal artery perforator flap grafting. Ultimately, successful healing was achieved with favorable postoperative outcomes characterized by good texture of the flap without any signs of rupture or infection. CONCLUSION: The combination of radiotherapy, wound enlargement excision debridement, and peroneal artery perforator flap grafting may present a favorable treatment modality for chronic non-healing lower leg wounds resulting from NHL.

2.
Biomark Res ; 12(1): 89, 2024 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-39183366

RESUMO

Colorectal cancer (CRC) ranks as the third most prevalent cancer globally. It's recognized that the molecular subtype of CRC, characterized by mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H), plays a critical role in determining appropriate treatment strategies. This review examines the current molecular classifications, focusing on dMMR/MSI-H CRC and its subtypes: Lynch syndrome (LS), Lynch-like syndrome (LLS), and sporadic cases. Despite advances in understanding of these genetic backgrounds, clinical trials have not conclusively differentiated the efficacy of immune checkpoint inhibitors among these subgroups. Therefore, while this review details the molecular characteristics and their general implications for treatment and prognosis, it also highlights the limitations and the need for more refined clinical studies to ascertain tailored therapeutic strategies for each subtype. Furthermore, this review summarizes completed and ongoing clinical studies, emphasizing the importance of developing treatments aligned more closely with molecular profiles. By discussing these aspects, the review seeks to provide a comprehensive analysis of oncological characteristics, presenting a detailed understanding of their implications for treatment and prognosis in dMMR/MSI-H CRC.

3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 389-93, 2013 Aug.
Artigo em Zh | MEDLINE | ID: mdl-23926001

RESUMO

OBJECTIVE: To detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening. METHODS: Polymerase chain reaction and direct DNA sequencing were carried out for the affected child and her parents. Suspected ALDH5A1 gene mutations were verified in 100 healthy controls to exclude polymorphisms. RESULTS: The child was found to have carried 2 heterozygous missense mutations in the coding region of ALDH5A1 gene, namely c.527G>A and c.691G>A, for which her mother and father were respectively heterozygotes. The same mutations were not detected in 100 healthy controls. The child was also found to have carried two previously described polymorphisms including a heterozygous c.545C>T(derived from her father) and a homozygous c.538C>T(derived from her mother). CONCLUSION: Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Erros Inatos do Metabolismo dos Aminoácidos/genética , Povo Asiático/genética , Succinato-Semialdeído Desidrogenase/deficiência , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/etnologia , Sequência de Aminoácidos , Animais , Povo Asiático/etnologia , Sequência de Bases , Pré-Escolar , China/etnologia , Deficiências do Desenvolvimento , Feminino , Heterozigoto , Humanos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Polimorfismo Genético , Succinato-Semialdeído Desidrogenase/genética
4.
Zool Res ; 44(6): 1026-1038, 2023 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-37804114

RESUMO

Quantification of behaviors in macaques provides crucial support for various scientific disciplines, including pharmacology, neuroscience, and ethology. Despite recent advancements in the analysis of macaque behavior, research on multi-label behavior detection in socially housed macaques, including consideration of interactions among them, remains scarce. Given the lack of relevant approaches and datasets, we developed the Behavior-Aware Relation Network (BARN) for multi-label behavior detection of socially housed macaques. Our approach models the relationship of behavioral similarity between macaques, guided by a behavior-aware module and novel behavior classifier, which is suitable for multi-label classification. We also constructed a behavior dataset of rhesus macaques using ordinary RGB cameras mounted outside their cages. The dataset included 65 913 labels for 19 behaviors and 60 367 proposals, including identities and locations of the macaques. Experimental results showed that BARN significantly improved the baseline SlowFast network and outperformed existing relation networks. In conclusion, we successfully achieved multi-label behavior detection of socially housed macaques with both economic efficiency and high accuracy.


Assuntos
Comportamento Animal , Animais , Macaca mulatta
5.
Cells ; 11(11)2022 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-35681484

RESUMO

O-GlcNAcylation is a highly dynamic, reversible and atypical glycosylation that regulates the activity, biological function, stability, sublocation and interaction of target proteins. O-GlcNAcylation receives and coordinates different signal inputs as an intracellular integrator similar to the nutrient sensor and stress receptor, which target multiple substrates with spatio-temporal analysis specifically to maintain cellular homeostasis and normal physiological functions. Our review gives a brief description of O-GlcNAcylation and its only two processing enzymes and HBP flux, which will help to better understand its physiological characteristics of sensing nutrition and environmental cues. This nutritional and stress-sensitive properties of O-GlcNAcylation allow it to participate in the precise regulation of skeletal muscle metabolism. This review discusses the mechanism of O-GlcNAcylation to alleviate metabolic disorders and the controversy about the insulin resistance of skeletal muscle. The level of global O-GlcNAcylation is precisely controlled and maintained in the "optimal zone", and its abnormal changes is a potential factor in the pathogenesis of cancer, neurodegeneration, diabetes and diabetic complications. Although the essential role of O-GlcNAcylation in skeletal muscle physiology has been widely studied and recognized, it still is underestimated and overlooked. This review highlights the latest progress and potential mechanisms of O-GlcNAcylation in the regulation of skeletal muscle contraction and structural properties.


Assuntos
Complicações do Diabetes , Resistência à Insulina , Complicações do Diabetes/metabolismo , Glicosilação , Humanos , Contração Muscular , Músculo Esquelético/metabolismo
6.
Ital J Pediatr ; 48(1): 94, 2022 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-35698204

RESUMO

BACKGROUND: Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagnosis, treatment and prognosis analysis; there has been little research conducted on the characteristics of immune function, and the relationship between immune function and prognoses of patients with autoimmune encephalitis needs to be studied further. METHODS: A total of 33 children with autoimmune encephalitis were identified through the clinic database and inpatient consults at Tianjin Children's Hospital from January 2013 to January 2021. Based on the one-year follow-up and the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group and a poor prognosis group. The immune function characteristics of the two groups of children with autoimmune encephalitis (AE) were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and binary logistic regression was used to analyse the independent risk factors of the prognoses in patients with autoimmune encephalitis (AE). RESULTS: The differences in abnormal mental disorders and limb dyskinesia, cognitive impairment, onset types, modified Rankin Scale (mRS) scores at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05). CONCLUSION: There is a close correlation between modified Rankin Scale (mRS) scores and the immune function index CD4/CD8 in children with autoimmune encephalitis (AE) when they are admitted to the hospital. A young age, disturbance of consciousness, limb dyskinesia, abnormal immune function in remission and anti-NMDAR encephalitis are risk factors for poor prognoses in children with autoimmune encephalitis (AE). Clinical treatment requires more attention.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Discinesias , Criança , Encefalite , Doença de Hashimoto , Humanos , Prognóstico , Estudos Retrospectivos
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