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1.
Ren Fail ; 46(2): 2365408, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38874119

RESUMEN

Podocyte loss in glomeruli is a fundamental event in the pathogenesis of chronic kidney diseases. Currently, mitotic catastrophe (MC) has emerged as the main cause of podocyte loss. However, the regulation of MC in podocytes has yet to be elucidated. The current work aimed to study the role and mechanism of p53 in regulating the MC of podocytes using adriamycin (ADR)-induced nephropathy. In vitro podocyte stimulation with ADR triggered the occurrence of MC, which was accompanied by hyperactivation of p53 and cyclin-dependent kinase (CDK1)/cyclin B1. The inhibition of p53 reversed ADR-evoked MC in podocytes and protected against podocyte injury and loss. Further investigation showed that p53 mediated the activation of CDK1/cyclin B1 by regulating the expression of Wee1. Restraining Wee1 abolished the regulatory effect of p53 inhibition on CDK1/cyclin B1 and rebooted MC in ADR-stimulated podocytes via p53 inhibition. In a mouse model of ADR nephropathy, the inhibition of p53 ameliorated proteinuria and podocyte injury. Moreover, the inhibition of p53 blocked the progression of MC in podocytes in ADR nephropathy mice through the regulation of the Wee1/CDK1/cyclin B1 axis. Our findings confirm that p53 contributes to MC in podocytes through regulation of the Wee1/CDK1/Cyclin B1 axis, which may represent a novel mechanism underlying podocyte injury and loss during the progression of chronic kidney disorder.


Asunto(s)
Proteína Quinasa CDC2 , Proteínas de Ciclo Celular , Ciclina B1 , Doxorrubicina , Mitosis , Podocitos , Proteínas Tirosina Quinasas , Proteína p53 Supresora de Tumor , Podocitos/metabolismo , Podocitos/patología , Animales , Proteína Quinasa CDC2/metabolismo , Proteína p53 Supresora de Tumor/metabolismo , Ratones , Proteínas Tirosina Quinasas/metabolismo , Proteínas Tirosina Quinasas/antagonistas & inhibidores , Doxorrubicina/farmacología , Ciclina B1/metabolismo , Proteínas de Ciclo Celular/metabolismo , Modelos Animales de Enfermedad , Humanos , Masculino
3.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(4): 960-966, 2023.
Artículo en Chino | MEDLINE | ID: mdl-37551462

RESUMEN

AbstractObjective: To investigate the efficacy and safety of venetoclax-based induction chemotherapy in newly diagnosed (ND) patients ineligible for intensive therapy and patients with relapsed/refractory (R/R) acute myeloid leukemia (AML). METHODS: The clinical data of 51 newly diagnosed patients ineligible for intensive therapy and patients with R/R AML treated in the Department of Hematology of Xijing Hospital from February 1, 2021 to April 30, 2022 were retrospectively analyzed. The incidence of complete remission (CR)/CR with incomplete hematological recovery (CRi), objective remission rate (ORR), minimal residual disease (MRD) status, advense events (AE), overall survival (OS) and progression-free survival (PFS) were analyzed. RESULTS: Among 51 patients, 32 patients were newly diagnosed patients unfit for intensive therapy, with a median age of 60 (29-88) years, and 19 patients were R/R patients, with a median age of 49 (22-92) years. The median cycles of VEN-based treatment in the two groups were both 2. The CR/CRi rates in the ND-AML and R/R-AML group after one course of induction treatment were 65.6% and 36.9%, respectively, and the ORR were 81.3% and 42.1%, respectively. The cumulative CR/CRi rates after 1-3 courses of VEN-based treatment were 71.9% and 47.4%, respectively. The MRD negativity rates of patients achieving CR/CRi were 69.6% and 33.3%, respectively. In the ND-AML and R/R-AML group, the median PFS were 8(5-11) and 3(1-5) months, and the median OS were 13 (6-20) and 5 (3-7) months, respectively. The median OS of patients achieving CR/CRi in both groups was significantly better than that of patients not achieving CR/CRi (13 months vs 4 months; OS not reached vs 4 months). During the first induction cycle, the incidence of grade 3 or higher granulocytopenia, anemia and thrombocytopenia was 96%, 90.2% and 84.3%, respectively. 30 patients (58.8%) had granulocytopenia with fever. The most common non-hematological AE was infection (12/51, 23.5%), followed by gastrointestinal symptoms (6/51, 11.8%). CONCLUSION: The VEN-based strategy has good treatment response and tolerance in newly diagnosed patients unfit for intensive therapy and R/R AML. The most common AEs are hematological toxicities and infection.

4.
Sci Total Environ ; 882: 163624, 2023 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-37087000

RESUMEN

Water exchange unevenness (WEU) is defined as the coefficient of variation in water exchange intensity over time. Although its influence on aquatic plant characteristics has been recently investigated, there is limited understanding regarding the effects of this hydrodynamic change on submerged vegetation. This study investigated the impacts of WEU on the species dominance and community composition of submerged macrophytes in three bays with different WEU conditions in Erhai Lake, China. Subsequently, a laboratory experiment was conducted to elucidate the mechanisms underlying these effects. The field investigation showed that the dominance values of submerged macrophytes were influenced by WEU. As WEU decreased, the average dominance value decreased for Vallisneria natans (by 34.54 %), Myriophyllum spicatum (16.82 %), and Hydrilla verticillata (12.84 %); showed no significant change for Potamogeton lucens; and increased for Potamogeton maackianus (14.22 %) and Ceratophyllum demersum (17.52 %). The laboratory experiment showed that lower WEU markedly inhibited the growth of V. natans, slightly inhibited that of M. spicatum, and stimulated that of P. maackianus, consistent with the field observations. The inhibitory effect was attributed to a reduced concentration of carbon dioxide in the water; adaptive strategies, i.e., plant height, biomass allocation, and root traits, were more effective for M. spicatum than for V. natans. The stimulated growth of P. maackianus was attributed to increased dissolved oxygen concentration, which promoted root growth and nutrient uptake. Our results indicate that WEU has significant effects on the growth and community characteristics of submerged macrophytes.


Asunto(s)
Hydrocharitaceae , Potamogetonaceae , Lagos , Agua , Biomasa , Plantas , China
5.
Br J Neurosurg ; 37(5): 1375-1378, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33491507

RESUMEN

OBJECTIVE: To evaluate the effectiveness and safety of microvascular decompression (MVD) using a fully transcranial neuroendoscopic approach. METHODS: Thirty-one patients who underwent MVD using a fully transcranial neuroendoscopic approach in our department between May 2016 and September 2019 were retrospectively reviewed. RESULTS: All patients successfully underwent MVD, and immediate pain relief was achieved in all 17 cases of trigeminal neuralgia (TGH) and 3 cases of glossopharyngeal neuralgia (GPN). Hemifacial spasm (HFS) was completely resolved in all 11 patients. No mortality or permanent complication was seen. CONCLUSIONS: The endoscope is a useful tool for confirming vascular conflict identified by the microscope and is helpful in detecting the vessel responsible for neuralgia without retracting the brain and nerves. MVD using a fully transcranial neuroendoscopic approach is an effective and safe alternative to endoscopic-assisted MVD and traditional MVD.


Asunto(s)
Enfermedades del Nervio Glosofaríngeo , Espasmo Hemifacial , Cirugía para Descompresión Microvascular , Neuroendoscopía , Neuralgia del Trigémino , Humanos , Estudios Retrospectivos , Espasmo Hemifacial/cirugía , Neuralgia del Trigémino/cirugía , Resultado del Tratamiento
6.
BMC Neurol ; 22(1): 400, 2022 Nov 02.
Artículo en Inglés | MEDLINE | ID: mdl-36324078

RESUMEN

BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease that involves damage to the peripheral nervous system. The course of the disease can progress for more than 8 weeks, with frequent incidences of relapse-remission courses. This article reported a rare combination of CIDP with fluctuating symptoms, recurrence-remission, and comorbidity with psoriasis. CASE PRESENTATION: A 29-year-old male patient with repeated limb weakness and numbness was admitted to the hospital several times in the past six months. He had a history of psoriasis for 6 years, and the medications (clobetasol propionate ointment and calcipotriol ointment) treated for psoriasis were discontinued 1 year ago. During the hospitalization, repeated intravenous injections of human immunoglobulin G (IVIg), immunoadsorption, and secukinumab were performed. Nerve electrophysiology tests, ganglioside autoantibody spectrum tests, and clinical MRC muscle strength scores were performed on a regular basis to confirm the diagnosis of CIDP. The patient was regularly followed up. RESULTS: After repeated rounds of human IVIg and immunoadsorption, the patient's MRC score was increased by ≥ 6 points. The first ganglioside autoantibody spectrum test showed anti-GQ1b IgG ( +) and anti-GM1 IgM ( +) antibodies, and all were negative after re-examination. Finally, the patient was treated with the IL-17A inhibitor secukinumab for psoriasis. During 7 months of follow-up, the CIDP and psoriasis symptoms are relatively stable. CONCLUSION: Combination of IVIg and immunoadsorption was highly effective in treating CIDP complicated with psoriasis. The clinical manifestations of CIDP are diverse. When relapse-remission occurs in the course of the disease, it is necessary to clarify whether it is combined with other autoimmune diseases and should control the autoimmune diseases as soon as possible.


Asunto(s)
Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante , Psoriasis , Masculino , Humanos , Adulto , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/complicaciones , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/tratamiento farmacológico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/diagnóstico , Inmunoglobulinas Intravenosas/uso terapéutico , Pomadas/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Inmunoglobulina G , Gangliósidos , Enfermedad Crónica , Psoriasis/complicaciones , Psoriasis/tratamiento farmacológico , Comorbilidad , Recurrencia
7.
Front Oncol ; 12: 938550, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36185185

RESUMEN

Chromosome 1q21 aberration is one of the most common cytogenetic abnormalities in multiple myeloma, and is considered an important prognostic factor. The present study analyzed the clinical relevance and prognostic impact of 1q21 gain in 194 patients with newly diagnosed multiple myeloma treated with bortezomib-based regimens. 1q21 gain was detected in 45.9% (89/194) of patients, and those with 1q21 gain had a worse prognosis. Strikingly, our results showed that excluding the effects of other coinciding genetic anomalies, patients carrying at least four copies of 1q21 had worse survival outcome. Moreover, del(13q) strongly correlates with 1q21 gain, and the coexistence of del(13q) and 1q21 gain plays an important role in reducing PFS and OS times. Therefore, 1q21 gain should be considered a high-risk feature in multiple myeloma patients treated with a bortezomib-based regimen.

8.
J Mov Disord ; 15(3): 197-205, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35880382

RESUMEN

A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington's Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

9.
Neurol Sci ; 43(7): 4547-4549, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35396637

RESUMEN

GNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis.


Asunto(s)
Distonía , Trastornos Distónicos , Adulto , Distonía/genética , Trastornos Distónicos/genética , Subunidades alfa de la Proteína de Unión al GTP/genética , Pruebas Genéticas , Humanos , Mutación/genética
10.
Neuropsychiatr Dis Treat ; 17: 2707-2711, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34429606

RESUMEN

OBJECTIVE: To evaluate the improvement of motor, anxiety, and depression in patients with blepharospasm with the use of botulinum toxin type A (BTX-A) and repetitive transcranial magnetic stimulation (rTMS). METHODS: A total of 63 BEB patients accompanied by anxiety/depression were enrolled, among which 28 patients were treated with the injection of botulinum toxin type A (BTX-A) alone, while 35 patients were treated with BTX-A injection combined with rTMS. All patients were followed up for 6 months, and the overall efficacy was evaluated. RESULTS: BTX-A alone treatment and combined rTMS treatment could both significantly improve the symptoms of patients, and the effective rate was 92.86% and 94.29%, respectively. The duration of efficacy was significantly longer in the combined rTMS treatment group (16.89±3.39 weeks) than in BTX-A treatment group (13.04±3.48 weeks). After treatment, SDS score of BTX-A treatment group and combined rTMS treatment group was 49.69±7.90 and 49.46±6.73, respectively, and there was no significant difference between the two treatment groups; SAS score of BTX-A treatment group and combined rTMS treatment group was 53.88±7.34 and 48.79±6.62, respectively, and there was significant difference between the two treatment groups. CONCLUSION: Compared to BTX-A alone treatment, BTX-A combined with rTMS can effectively improve the effect of BTX-A, prolong the duration of blepharospasm relief, and significantly reduce depression and anxiety in patients with BEB.

11.
Biochem Biophys Res Commun ; 544: 22-30, 2021 03 12.
Artículo en Inglés | MEDLINE | ID: mdl-33516878

RESUMEN

Hyperglycemia-induced podocyte damage contributes to the onset of diabetic nephropathy, a severe complication of diabetes. Perilipin 5 (Plin5) exerts a vital role in numerous pathological conditions via affecting cell apoptosis, oxidative stress, and inflammation. However, whether Plin5 plays a role in regulating podocyte damage of diabetic nephropathy has not been fully determined. This work aimed to explore the role of Plin5 in mediating high glucose (HG)-induced injury of podocytes in vitro. Our results demonstrated that Plin5 expression was markedly decreased in mouse podocytes challenged with HG. Plin5 overexpression markedly suppressed HG-induced apoptosis, reactive oxygen species (ROS) production, and the pro-inflammatory response in podocytes. On the contrary, Plin5 silencing produced the opposite effects. Further mechanistic analysis demonstrated that Plin5 upregulation remarkably increased the levels of phospho-Akt and phospho-glycogen synthase kinase-3ß (GSK-3ß) in HG-exposed podocytes. Moreover, Plin5 overexpression increased the levels of nuclear factor erythroid 2-related factor 2 (Nrf2) and enhanced the activation of Nrf2 signaling. Akt inhibition markedly blocked Plin5-mediated activation of Nrf2, while GSK-3ß inhibition reversed Plin5-silencing-induced suppressive effects on Nrf2 activation. Notably, Nrf2 suppression significantly blocked Plin5-mediated protective effects against HG-induced podocyte injury. In summary, our work indicates a vital role for Plin5 in protecting against HG-induced apoptosis, oxidative stress, and inflammation in podocytes via modulation of Akt/GSK-3ß/Nrf2 signaling. This study suggests that Plin5 may participate in modulating podocyte damage in diabetic nephropathy.


Asunto(s)
Apoptosis , Glucosa/toxicidad , Inflamación/tratamiento farmacológico , Enfermedades Renales/prevención & control , Estrés Oxidativo , Perilipina-5/farmacología , Podocitos/efectos de los fármacos , Animales , Células Cultivadas , Glucógeno Sintasa Quinasa 3 beta/metabolismo , Inflamación/metabolismo , Inflamación/patología , Enfermedades Renales/metabolismo , Enfermedades Renales/patología , Ratones , Factor 2 Relacionado con NF-E2/metabolismo , Fosforilación , Podocitos/metabolismo , Podocitos/patología , Proteínas Proto-Oncogénicas c-akt/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Transducción de Señal , Edulcorantes/toxicidad
12.
Cell Transplant ; 29: 963689720975397, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33238731

RESUMEN

This study aimed to compare the efficacy of allogeneic stem cell transplantation (allo-SCT) versus autologous SCT (auto-SCT) in patients with relapsed or refractory B-cell non-Hodgkin lymphoma (B-NHL). Medline, CENTRAL, and EMBASE databases through December 31, 2019 were searched. The primary endpoints were overall survival (OS) and progression-free survival (PFS) rates. The secondary outcomes include transplant-related mortality (TRM), event-free survival, relapse/or progression, and nonrelapse mortality (NRM). The 18 retrospective studies enrolled 8,058 B-NHL patients (allo-SCT = 1,204; auto-SCT = 6,854). The OS was significantly higher in patients receiving auto-SCT than allo-SCT (pooled odds ratio [OR]: 1.69, 95% confidence interval [CI]: 1.29 to 2.22, P < 0.001), but no significant difference was found in PFS (pooled OR: 0.98, 95% CI: 0.69 to 1.38, P = 0.891). Auto-SCT patients also had lower TRM and NRM (TRM: OR = 0.23, P < 0.001; NRM: OR = 0.16, P < 0.001), but higher relapse or progression rate (OR = 2.37, P < 0.001) than allo-SCT patients. Subgroup analysis performed for different grades and subtypes of B-NHL showed higher OS in auto-SCT patients with high-grade B-NHL and diffused large B-cell lymphoma (DLBCL). There was, nevertheless, higher PFS in allo-SCT patients with low-grade B-NHL and follicular lymphoma (FL), and lower PFS in allo-SCT patients with DLBCL than their auto-SCT counterparts. In conclusion, the meta-analysis demonstrated that relapsed or refractory B-NHL patients who received auto-SCT have improved OS than those treated with allo-SCT, especially among those with DLBCL, but lower PFS among those with FL. However, the study is limited by a lack of randomized trials, patients' heterogeneity, and possible selection bias.


Asunto(s)
Linfoma de Células B/metabolismo , Linfoma no Hodgkin/terapia , Trasplante Autólogo/métodos , Trasplante Homólogo/métodos , Intervalos de Confianza , Progresión de la Enfermedad , Humanos , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Resultado del Tratamiento
13.
Clin Exp Pharmacol Physiol ; 47(3): 495-502, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31785117

RESUMEN

Renal ischaemia/reperfusion (I/R) is a major cause of acute renal failure with increased morbidity, mortality, and prolonged hospitalizations. Clematichinenoside (AR), a triterpenoid saponin isolated from the roots of Clematis chinensis, was reported to possess a protective effect against I/R injury. However, the effect of AR on renal I/R injury has not been evaluated. This study aims to examine the effect of AR on an in vitro I/R model in human proximal tubular epithelial cells HK-2. HK-2 cells were subjected to hypoxia/reoxygenation (H/R) stimulation to mimic I/R in vitro. The results showed that AR improved cell viability of H/R-stimulated HK-2 cells. AR pretreatment resulted in decreased production of reactive oxygen species (ROS) and malondialdehyde (MDA), as well as increased in superoxide dismutase (SOD) activity in H/R-stimulated HK-2 cells. In addition, AR also presented an anti-inflammatory activity, as evidenced by decreased secretion of pro-inflammatory cytokines including IL-6, IL-1ß, and TNF-α. Moreover, apoptotic rate was markedly decreased in HK-2 cells pretreated with AR. The bax expression was decreased, while bcl-2 expression was increased by AR pretreatment. Furthermore, AR enhanced the H/R-stimulated activation of the Nrf2/HO-1 signalling pathway in HK-2 cells. In conclusion, these findings indicated that AR protected HK-2 cells from H/R-induced cell injury via regulating the Nrf2/HO-1 signalling pathway.


Asunto(s)
Células Epiteliales/metabolismo , Hemo-Oxigenasa 1/metabolismo , Túbulos Renales Proximales/metabolismo , Factor 2 Relacionado con NF-E2/metabolismo , Saponinas/farmacología , Transducción de Señal/fisiología , Hipoxia de la Célula/efectos de los fármacos , Hipoxia de la Célula/fisiología , Línea Celular , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/fisiología , Células Epiteliales/efectos de los fármacos , Humanos , Túbulos Renales Proximales/citología , Túbulos Renales Proximales/efectos de los fármacos , Transducción de Señal/efectos de los fármacos
14.
Mol Med Rep ; 19(5): 4249-4255, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30942459

RESUMEN

Enhancer of zeste homolog 2 (EZH2) serves a pivotal role in epigenetic silencing by acting as a histone methyltransferase. It has been confirmed that EZH2 overexpression occurs in different types of cancer and is involved in drug resistance, while it remains unclear how a DNA­damaging event may promote EZH2 expression in multiple myeloma (MM) cells and how EZH2 influences its susceptibility to death in response to DNA­damaging chemotherapy. The present study examined the impact of EZH2 inhibition on DNA damage­induced apoptosis in MM cells and elucidated its underlying molecular mechanism. It was demonstrated that pharmacological inhibition of EZH2 sensitized MM cells to DNA­damaging agents and promoted limited caspase­dependent apoptosis. Mechanistically, targeting EZH2 with minimal toxic concentrations of a pharmacological inhibitor (GSK126) markedly weakened the accompanying increase in the histone trimethylation H3K27me3 and aggravated DNA damage response (DDR)­associated apoptosis in vitro. These data preliminarily confirmed the underlying molecular mechanisms of interaction between histone methylation and the DDR in MM cells, forming the rationale for the combination regimen of EZH2 inhibitors with DNA­damaging agents for the treatment of MM.


Asunto(s)
Antineoplásicos/farmacología , Daño del ADN/efectos de los fármacos , Proteína Potenciadora del Homólogo Zeste 2/antagonistas & inhibidores , Apoptosis/efectos de los fármacos , Caspasas/metabolismo , Ciclo Celular/efectos de los fármacos , Línea Celular Tumoral , Proliferación Celular/efectos de los fármacos , Humanos , Mieloma Múltiple/genética , Mieloma Múltiple/metabolismo
15.
Front Neurol ; 10: 1387, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-32038460

RESUMEN

Objective: This study aimed to screen gene mutations in Chinese patients with benign essential blepharospasm (BEB) to understand its etiology. Methods: Twenty BEB patients diagnosed by clinical manifestations between April 2015 and October 2015 were enrolled. All the cases were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, psychological factors, genetic factors, and previous diseases. In each patient, a total of 151 genes related to movement disorders were analyzed by second-generation sequencing. Results: Two patients had a family history of BEB, and they had SYNE1 and Cdkn1A-interacting zinc finger protein 1 (CIZ1) mutation, respectively. We found the SYNE1 mutation in seven patients, the CIZ1 mutation in two patients, the CACNA1A mutation in two patients, the LRRK2 mutation in two patients, and the FUS mutation in two patients. The C10orf2, TPP1, SLC1A3, PNKD, EIF4G1, SETX, PRRT2, SPTBN2, and TTBK2 mutations were found in only one patient, respectively, while not any mutation in the 151 genes were found in two patients. Some patients had mutations in two genes. Conclusion: Genetic factors, especially SYNE1 and CIZ1 mutations, contribute to the etiology of BEB.

16.
Neuropsychiatr Dis Treat ; 15: 33-36, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30587995

RESUMEN

OBJECTIVE: To explore the efficacy of botulinum toxin type A (BTX-A) therapy in relieving anxiety and depression in patients with hemifacial spasm (HFS) and benign essential blepharospasm (BEB). PATIENTS AND METHOD: Ninety idiopathic HFS patients and 90 BEB patients were enrolled. The anxiety and depression status were evaluated by self-rating anxiety scale (SAS) and self-rating depression scale (SDS), respectively, before and after the injection of BTX-A. RESULTS: Before treatment, the SAS and SDS scores of HFS patients were 41.25±6.35 and 42.25±7.57, respectively. The SAS scores were 40.17±8.36 for males and 43.56±6.10 for females (P=0.031). The SDS scores were 40.25±6.46 for males and 45.48±7.31 for females (P=0.008). After treatment, the SAS and SDS scores were 30.12±4.35 and 30.58±4.89, respectively. There was a significant difference in the SAS and SDS scores before and after treatment. Before treatment, the SAS scores of male and female BEB patients were 56.45±8.75 and 60.89±9.11, respectively, and the SDS scores of male and female BEB patients were 57.90±7.93 and 60.12±8.35, respectively. After treatment, the SAS score was 38.17±3.67 and the SDS score was 38.12±4.15, with a significant difference in before and after treatment scores. CONCLUSION: In HFS and BEB, especially in female patients, there is an association with anxiety and depression. BTX-A can improve the symptoms of anxiety and depression.

17.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 26(5): 1350-1354, 2018 Oct.
Artículo en Chino | MEDLINE | ID: mdl-30295249

RESUMEN

OBJECTIVE: To evaluate the clinicopathological characteristics, treatment and prognosis of the patients with plasmablastic lymphoma(PBL). METHODS: The clinical and pathological data of 21 patients with PBL diagnosed and treated in our center between January 2009 and September 2017 were retrospectively analyzed. The clinical and pathological features, treatment and therapentic outcome were summarized and the high risk factors affecting the prognosis of patients were investigated. RESULTS: The 21 PBL patients included 12 males and 9 females, and their median age was 52 years old. The human immunodeficiency virus (HIV) was negative in all patients. The primary involved sites of 16 patients were extranodal, and the patients staged in III-IV accounted for 81%; 18 patients receved first-line chemotherapy with standard CHOP(E) (cyclophosphamide +epirubicin +vincristine +prednisone±etoposide). After treatment, only 1 patient achieved complete response (CR), and 8 patients achieved partial response (PR). The median overall survival time was 6.3 months. Multivariate analysis showed the America Eastern Cooperative Oncology Group (ECOG) physical score and bone marrow infiltration were significant prognostic factors (P<0.01). CONCLUSION: Plasmablastic lymphoma frequently occurrs in the middle-old aged persons with all HIV negative. Primary extranodal lesions are frequent. Most patients were in advanced stage with poor treatment response. ECOG score≥2 and bone marrow infiltration are independent prognostic factors related with worse prognosis.


Asunto(s)
Linfoma Plasmablástico , Protocolos de Quimioterapia Combinada Antineoplásica , Ciclofosfamida , Doxorrubicina , Etopósido , Femenino , Infecciones por VIH , Humanos , Masculino , Persona de Mediana Edad , Prednisona , Pronóstico , Estudios Retrospectivos , Vincristina
18.
World J Clin Cases ; 6(11): 477-482, 2018 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-30294614

RESUMEN

Myeloid sarcoma (MS) is a type of extramedullary solid haematological tumour. Myeloid sarcoma is classified into two types based on whether onset of the disease is complicated by haematologic diseases: extramedullary infiltration of leukaemia (leukaemic MS) and isolated myeloid sarcoma. The incidence of isolated myeloid sarcoma is low. In particular, isolated myeloid sarcoma involving the pancreas is extremely rare and prone to misdiagnosis. This case report describes the long and eventful diagnostic process of a case of myeloid sarcoma involving the pancreas and orbit. Due to a lack of typical clinical manifestations and imaging characteristics, the patient underwent several rounds of treatment without a confirmed diagnosis. Eventually, the final diagnosis was pathologically confirmed using several types of biopsies and immunohistochemical detection. To date, this type of disease has not been reported in the literature. This case report describes the detailed diagnostic process and discusses the strategies used for diagnosis, which will facilitate the diagnosis of such diseases in the future.

19.
Ann Diagn Pathol ; 34: 60-65, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29661730

RESUMEN

To explore the distribution of lymphoid neoplasms in Northwest China, the clinical and pathological data of lymphoma patients from 2006 to 2014 were analyzed according to the WHO classification in Xijing Hospital. Of the 3244 cases, mature B-cell neoplasms occupied 60.7%, while mature T/NK-cell neoplasms and Hodgkin's lymphomas (HL) occupied 26.2% and 8.1%, respectively. The most common subtype of lymphoma was diffuse large B-cell lymphoma (35.0%), followed by extranodal NK/T-cell lymphoma, nasal type (ENKTCL) (12.9%) and marginal zone B-cell lymphoma (7.8%). Mixed cellularity (34.0%) was the most common subtype of HL. The especially high proportion of ENKTCL was the most outstanding feature of our study in comparison to previous reports. The mean age of all lymphoid neoplasms cases was 51years and most subtypes showed male predominance, with an average male-female ratio of 1.6. Extranodal lymphomas took up about 60% of all cases and gastrointestinal tract was the most frequently involved site. In conclusion, the distribution of lymphoid neoplasms of Northwest China showed some features similar to previous reports of China and other countries, but some subtypes presented distinct features.


Asunto(s)
Linfoma de Células B de la Zona Marginal/clasificación , Linfoma Extranodal de Células NK-T/clasificación , Linfoma de Células B Grandes Difuso/clasificación , Linfoma/clasificación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , China/epidemiología , Humanos , Lactante , Linfoma/epidemiología , Linfoma/patología , Linfoma de Células B de la Zona Marginal/epidemiología , Linfoma de Células B de la Zona Marginal/patología , Linfoma Extranodal de Células NK-T/epidemiología , Linfoma Extranodal de Células NK-T/patología , Linfoma de Células B Grandes Difuso/epidemiología , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Prevalencia , Organización Mundial de la Salud , Adulto Joven
20.
J Investig Med ; 66(4): 762-767, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29330308

RESUMEN

This study aimed to investigate clinical characteristics and survival outcomes of primary cutaneous T-cell lymphoma (CTCL) in HIV-infected and non-HIV-infected patients. All data were from the Surveillance, Epidemiology, and End Results program, 1973-2013, of the U.S. National Cancer Institute. Data of 318 HIV-infected patients and 1272 non-HIV-infected patients with primary CTCL were analyzed. Endpoints were overall survival and cancer-specific mortality. Independent variables included demographics, pre-existing malignancy, treatments, and environmental factors. Among 8823 patients with CTCL, 318 (3.60 per cent) were HIV-infected and 8505 (96.40 per cent) were not. 318 HIV-infected patients and 1272 non-HIV-infected patients selected by matching diagnosis dates were analyzed, including 941 (59.2 per cent) males and 649 (40.8 per cent) females with mean age 58.8 years. HIV-infected patients with CTCL had higher survival and significantly lower risk of overall mortality than non-HIV-infected patients (adjusted HR 0.37, 95 per cent CI 0.24 to 0.59, P<0.001). Non-HIV-infected, age and black race were significant risk factors for overall mortality. Age and race are independent risk factors for overall mortality in primary CTCL individuals, and HIV-infected status is an independent protective factor, suggesting that advanced antiretroviral therapy restores immunity and prolongs survival in HIV-infected patients with CTCL.


Asunto(s)
Infecciones por VIH/complicaciones , Estimación de Kaplan-Meier , Linfoma Cutáneo de Células T/complicaciones , Linfoma Cutáneo de Células T/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Modelos de Riesgos Proporcionales , Factores de Riesgo , Programa de VERF , Factores de Tiempo
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