Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 105
Filtrar
2.
Zhonghua Yi Xue Za Zhi ; 104(6): 433-439, 2024 Feb 06.
Artigo em Chinês | MEDLINE | ID: mdl-38326055

RESUMO

Objective: To investigate the incidence and influencing factors of hypogammaglobulinemia (HGG) in children with steroid-dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS) treated with rituximab (RTX), and its relationship with the risk of severe infections. Methods: The clinical data of children with SDNS/FRNS treated with RTX at the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University from December 2020 to January 2023 were retrospectively analyzed. RTX treatment was performed using a B-cell-guided regimen (a single dose of 375 mg/m2, a maximum of 500 mg/dose, and an additional one dose when reassessment of peripheral blood CD19+B cells≥1%). Patients were divided into HGG and non-HGG groups according to the presence or absence of HGG during the follow-up period. A multivariate logistic regression model was used to analyze the influencing factors of HGG, and the predictive value of each influencing factor on HGG was assessed by plotting the receiver operating characteristic (ROC) curve. Results: A total of 59 SDNS/FRNS children (48 males and 11 females) were included, and aged [M (Q1, Q3)] 9.4 (6.5, 12.2) years at the time of the first RTX treatment, with a median application of 3 (2, 4) doses of RTX. During the follow-up period of 15.5 (9.9, 22.8) months, the HGG was present in 16 (27.1%) children, of which seven persisted for more than 1 year. Compared with non-HGG group, HGG group had a shorter duration of the disease [3.3 (2.1, 3.6) vs 4.6 (2.4, 8.0) years, P=0.030], younger age at the time of the first RTX treatment [6.2 (5.6, 7.4) vs 11.3 (8.8, 13.3) years, P<0.001], and lower serum IgG levels [5.9 (4.9, 6.4) vs 7.5 (6.1, 8.2) g/L, P<0.001]. Multivariate logistic regression analysis showed that young age at the time of the first RTX treatment (OR=0.52, 95%CI: 0.35-0.78, P=0.002) was an influencing factor of HGG. The area under the curve (AUC) for age at first RTX treatment to predict HGG was 0.887 (95%CI: 0.778-0.955, P<0.001), with an optimal cut-off value of 8.3 years. During the follow-up period, six children (10.2%) developed severe infectious, and there was no statistically significant difference in the incidence of serious infections between the HGG and non-HGG groups [12.5% (2/16) vs 9.3% (4/43), P=1.000]. Conclusions: HGG is frequent in children with SDNS/FRNS treated with RTX, and nearly half of HGG persists for more than 1 year. The possibility of HGG is greater in those≤8.3 years at the first RTX treatment, but HGG does not increase the risk of severe infections in children.


Assuntos
Agamaglobulinemia , Síndrome Nefrótica , Masculino , Feminino , Humanos , Criança , Idoso , Rituximab/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Agamaglobulinemia/tratamento farmacológico , Incidência , Estudos Retrospectivos , Esteroides/uso terapêutico , Recidiva , Imunossupressores/uso terapêutico , Resultado do Tratamento
3.
Zhonghua Yi Xue Za Zhi ; 104(2): 147-151, 2024 Jan 09.
Artigo em Chinês | MEDLINE | ID: mdl-38186136

RESUMO

Exploring the clinical value of multiparametric magnetic resonance (Mp-MRI)-cognitive fusion method of targeted transperineal prostate puncture combined with rapid pathological diagnosis. Patients with suspected prostate cancer admitted to our hospital from 2022.01 to 2023.05 were selected as the study subjects, and Mp-MRI was performed and the suspected lesions were scored by the Prostate Imaging Reporting and Data System (PI-RADS). The enrolled patients were randomly divided into the transperineal prostate targeted puncture plus rapid pathology group (experimental group) and the transperineal prostate systematic combined targeted puncture plus conventional pathology group (control group), and the positive puncture rate, pathological findings, and complications were analyzed to compare the differences between the two groups. A total of 100 patients were enrolled, 53 in the experimental group [age 55-89 years, (73.17±7.79) years; tPSA 7.01-100 µg/L, mean 21.34 (12.38, 44.42) µg/L]and 47 in the control group [age 60-87 years, (71.96±7.07) years; tPSA 6.11-98.82 µg/L, mean 18.77 (9.04, 38.09) µg/L], and there was no significant difference between the two groups in the diagnostic positivity rate of overall PCa and clinically significant PCa (P>0.05); there was no significant difference in the highest Gleason score of pathological tissues between the two groups (P>0.05); the number of cases of medically induced sarcoid hematuria in the experimental group were significantly reduced compared with the control group (P<0.05). In terms of biopsy pain score (VAS), patients in the experimental group experienced less pain than those in the control group (P<0.05). The Mp-MRI-cognitive fusion method of transperineal targeted prostate puncture combined with rapid frozen section pathological examination can provide rapid and accurate pathological results, reduce the chance of post-puncture complications, and alleviate the pain caused by puncture sampling, which has high clinical value.


Assuntos
Próstata , Neoplasias da Próstata , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Imageamento por Ressonância Magnética , Punções , Dor
4.
Zhonghua Gan Zang Bing Za Zhi ; 31(6): 653-658, 2023 Jun 20.
Artigo em Chinês | MEDLINE | ID: mdl-37400394

RESUMO

Drug-induced liver injury (DILI) risk prediction, diagnosis establishment, clinical management, and all other aspects are facing great challenges. Although the current understanding of its pathogenesis is still incomplete, research over the past 20 years has shown that genetic susceptibility may play an important role in the occurrence and development of DILI. In recent years, pharmacogenomics studies have further revealed the association between human leukocyte antigen (HLA) genes, some non-HLA genes, and hepatotoxicity from certain drugs. However, due to the lack of well-designed, prospective, large-sample cohort validation and low positive predictive values, there may still be some way to go before the current results can be truly translated into clinical practice for precise prediction and prevention of DILI risk.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Predisposição Genética para Doença , Estudos Prospectivos , Fatores de Risco , Doença Hepática Induzida por Substâncias e Drogas/genética , Fígado
5.
Antimicrob Agents Chemother ; 67(5): e0035523, 2023 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-37125913

RESUMO

The treatment of bacterial infections is becoming increasingly challenging with the emergence of antimicrobial resistance. Thus, the development of antimicrobials with novel mechanisms of action is much needed. Previously, we designed several cationic main-chain imidazolium compounds and identified the polyimidazolium PIM1 as a potent antibacterial against a wide panel of multidrug-resistant nosocomial pathogens, and it had relatively low toxicity against mammalian epithelial cells. However, little is known about the mechanism of action of PIM1. Using an oligomeric version of PIM1 with precisely six repeating units (OIM1-6) to control for consistency, we showed that OIM1-6 relies on an intact membrane potential for entry into the bacterial cytoplasm, as resistant mutants to OIM1-6 have mutations in their electron transport chains. These mutants demonstrate reduced uptake of the compound, which can be circumvented through the addition of a sub-MIC dose of colistin. Once taken up intracellularly, OIM1-6 exerts double-stranded DNA breaks. Its potency and ability to kill represents a promising class of drugs that can be combined with membrane-penetrating drugs to potentiate activity and hedge against the rise of resistant mutants. In summary, we discovered that cationic antimicrobial OIM1-6 exhibits an antimicrobial property that is dissimilar to the conventional cationic antimicrobial compounds. Its killing mechanism does not involve membrane disruption but instead depends on the membrane potential for uptake into bacterial cells so that it can exert its antibacterial effect intracellularly.


Assuntos
Anti-Infecciosos , Peptídeos Catiônicos Antimicrobianos , Animais , DNA Bacteriano , Potenciais da Membrana , Peptídeos Catiônicos Antimicrobianos/farmacologia , Antibacterianos/farmacologia , Bactérias , Testes de Sensibilidade Microbiana , Mamíferos
6.
Ultrasound Obstet Gynecol ; 62(5): 721-726, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37204857

RESUMO

OBJECTIVE: To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities. METHODS: This was a retrospective cohort study of fetuses identified to have CNS abnormality on prenatal ultrasound and/or magnetic resonance imaging. All fetuses were first analyzed by chromosomal microarray analysis (CMA). Fetuses with a confirmed aneuploidy or causal pathogenic copy-number variant (CNV) on CMA did not undergo pES analysis and were excluded, while those with a negative CMA result were offered pES testing. RESULTS: Of the 167 pregnancies included in the study, 42 (25.1%) were identified to have a pathogenic or likely pathogenic (P/LP) variant. The diagnostic rate was significantly higher in fetuses with a non-isolated CNS abnormality than in those with a single CNS abnormality (35.7% (20/56) vs 14.5% (8/55); P = 0.010). Moreover, when a fetus had three or more CNS abnormalities, the positive diagnostic rate increased to 42.9%. A total of 25/42 (59.5%) cases had de-novo mutations, while, in the remaining cases, mutations were inherited and carried a significant risk of recurrence. Families whose fetus carried a P/LP mutation were more likely to choose advanced pregnancy termination than those with a variant of uncertain significance, secondary/incidental finding or negative pES result (83.3% (25/30) vs 41.3% (38/92); P < 0.001). CONCLUSION: pES improved the identification of genetic disorders in fetuses with CNS anomalies without a chromosomal abnormality or CNV identified on CMA, regardless of the number of CNS anomalies and presence of extracranial abnormality. We also demonstrated that pES findings can significantly impact parental decision-making. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Doenças do Sistema Nervoso Central , Malformações do Sistema Nervoso , Feminino , Gravidez , Humanos , Diagnóstico Pré-Natal/métodos , Sequenciamento do Exoma , Estudos Retrospectivos , Feto/diagnóstico por imagem , Feto/anormalidades , Aberrações Cromossômicas , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/genética , Análise em Microsséries/métodos , Ultrassonografia Pré-Natal/métodos
7.
Physiol Res ; 72(2): 251-258, 2023 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-37159858

RESUMO

Increased incidence of postoperative cognitive dysfunction (POCD) is observed in elderly patients underwent intravenous anesthesia (TIVA) with endotracheal intubation. Modulation of anesthetics compatibility may reduce the severity of POCD. Elderly patients scheduled for TIVA with endotracheal intubation were randomly divided into the control group (1.00?2.00 mg/kg propofol) and the etomidate and propofol combination group (1.00?2.00 mg/kg propofol and 0.30 mg/kg etomidate). Serum cortisol, S100?, and neuron-specific enolase (NSE), interleukin (IL)-6, and IL-10 were monitored during or after the operation. Mini-mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) were utilized to assess the severity of POCD. 63 elderly patients in the etomidate and propofol combination group and 60 patients in the control group were enrolled, and there was no significant difference in gender, American Society of Anesthesiologists (ASA) physical status, surgical specialty, intraoperative blood loss, and operation time between the two groups. Significantly increased serum cortisol, S100?, NSE, IL-6, and reduced MMSE and MoCA scores were detected in the control group at different time points after the operation (0-72 h post operation) when compared to those before the operation. Similar trends for these observed factors were found in the etomidate and propofol combination group. In addition, the etomidate and propofol combination group showed better effects in reducing the serum levels of cortisol, S100?, NSE, IL-6, and increasing the MMSE and MoCA scores when compared to the control group. The present study demonstrates that the combination of propofol with etomidate could alleviate POCD in elderly patients underwent TIVA with endotracheal intubation anesthesia.


Assuntos
Etomidato , Complicações Cognitivas Pós-Operatórias , Propofol , Idoso , Humanos , Etomidato/efeitos adversos , Propofol/efeitos adversos , Anestesia Intravenosa/efeitos adversos , Hidrocortisona , Interleucina-6 , Anestesia Geral
9.
J Neurooncol ; 161(2): 415-423, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36811765

RESUMO

PURPOSE: Brain invasion in meningiomas is considered an indicator of more aggressive behavior and worse prognosis. But the precise definition and the prognostic role of brain invasion remains unsolved duo to lacking a standardized workflow of surgical sampling and the histopathological detection. Searching for molecular biomarker expression correlating with brain invasion, could contribute to establish a molecular pathological diagnosis without problems of subjective interobserver variation and deeply understand the mechanism of brain invasion and develop innovative therapeutic strategies. METHODS: We utilized liquid chromatography tandem mass spectrometry to quantify protein abundances between non-invasive meningiomas (n = 21) and brain-invasive meningiomas (n = 21) spanning World Health Organization grades I and III. After proteomic discrepancies were analyzed, the 14 most up-regulated or down-regulated proteins were recorded. Immunohistochemical staining for glial fibrillary acidic protein and most likely brain invasion-related proteins was performed in both groups. RESULTS: A total of 6498 unique proteins were identified in non-invasive and brain-invasive meningiomas. Canstatin expression in the non-invasive group was 2.1-fold that of the brain-invasive group. The immunohistochemical staining showed canstatin expressed in both groups, and the non-invasive group showed stronger staining for canstatin in the tumor mass (p = 0.0132) than the brain-invasive group, which showed moderate intensity. CONCLUSION: This study demonstrated the low expression of canstatin in meningiomas with brain invasion, a finding that provide a basis for understanding the mechanism of brain invasion of meningiomas and may contribute to establish molecular pathological diagnosis and identify novel therapeutic targets for personalized care.


Assuntos
Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/patologia , Colágeno Tipo IV/metabolismo , Inibidores da Angiogênese , Cromatografia Líquida , Proteômica , Espectrometria de Massas em Tandem , Encéfalo/patologia , Neoplasias Meníngeas/patologia
10.
Zhonghua Er Ke Za Zhi ; 61(3): 250-255, 2023 Mar 02.
Artigo em Chinês | MEDLINE | ID: mdl-36849353

RESUMO

Objective: To investigate the risk factors of childhood systemic lupus erythematosus (SLE) with thyroid dysfunction and to explore the relationship between thyroid hormone and kidney injury of lupus nephritis (LN). Methods: In this retrospective study, 253 patients who were diagnosed with childhood SLE and hospitalized in the First Affiliated Hospital of Zhengzhou University from January 2019 to January 2021 were enrolled in the case group, and 70 healthy children were the control cases. The patients in the case group were divided into the normal thyroid group and the thyroid dysfunction group. Independent t-test, χ2 test, and Mann-Whitney U test were used for comparison between the groups, Logistic regression analysis was used for multivariate analysis, and Spearman correlation. Results: A total of 253 patients, there were 44 males and 209 females in the case group, and the age of onset was 14 (12, 16) years; a total of 70 patients, 24 males and 46 females were in the control group, and the age of onset was 13 (10, 13) years. The incidence of thyroid dysfunction in the case group was higher than that in the control group (48.2% (122/253) vs. 8.6% (6/70), χ²=36.03, P<0.05). Of the 131 patients, there were 17 males and 114 females in the normal thyroid group, and the age of onset was 14 (12, 16) years. Of the 122 patients in the thyroid dysfunction group, 28 males and 94 females were in the thyroid dysfunction group, and the age of onset was 14 (12, 16) years. Of the 122 had thyroid dysfunction, including 51 cases (41.8%) with euthyroid sick syndrome, 25 cases (20.5%) with subclinical hypothyroidism, 18 cases (14.8%) patients with sub-hyperthyroidism, 12 cases (9.8%) with hypothyroidism, 10 cases (8.2%) with Hashimoto's thyroiditis, 4 cases (3.3%) with hyperthyroidism, and 2 cases (1.6%) with Graves disease. Compared to patients with normal thyroid function, the serum level of triglyceride, total cholesterol, urine white blood cell, urine red blood cell, 24 h urine protein, D-dimer, and fibrinogen, ferritin and systemic lupus erythematosus disease activity Index-2000 (SLEDAI-2K) score were higher in patients with thyroid dysfunction (Z=3.07, 3.07, 2.48, 3.16, 2.40, 3.99, 2.68, 2.55, 2.80, all P<0.05), while the serum level of free thyroxine and C3 were lower in thyroid disfunction patients (10.6 (9.1, 12.7) vs. 11.3 (10.0, 12.9) pmol/L, and 0.46 (0.27, 0.74) vs. 0.57 (0.37, 0.82) g/L, Z=2.18, 2.42, both P<0.05). The higher level of triglyceride and D-dimer were the independent risk factors for childhood SLE with thyroid dysfunction (OR=1.40 and 1.35, 95%CI 1.03-1.89 and 1.00-1.81, respectively, both P<0.05). There were 161 patients with LN in the case group, all of which were conducted with renal biopsies, including 11 cases (6.8%) with types Ⅰ LN, 11 cases (6.8%) with typesⅡLN, 31 cases (19.3%) with types Ⅲ LN, 92 cases (57.1%) with types Ⅳ LN, and 16 cases (9.9%) with types Ⅴ LN. There were significant differences in the level of free triiodothyronine and thyroid stimulating hormone among different types of kidney pathology (both P<0.05); compared with types I LN, the serum level of free triiodothyronine was lower in types Ⅳ LN (3.4 (2.8, 3.9) vs. 4.3 (3.7, 5.5) pmol/L, Z=3.75, P<0.05). The serum level of free triiodothyronine was negatively correlated with the acute activity index score of lupus nephritis (r=-0.228, P<0.05), while the serum level of thyroid stimulating hormone was positively correlated with the renal pathological acute activity index score of lupus nephritis (r=0.257, P<0.05). Conclusions: There is a high incidence of thyroid dysfunction in childhood SLE patients. The higher SLEDAI and more severe renal damage were found in SLE patients with thyroid dysfunction compared to these with normal thyroid functions. The risk factors of childhood SLE with thyroid dysfunction are the higher level of triglyceride and D-dimer. The serum level of thyroid hormone is possibly related to the kidney injury of LN.


Assuntos
Hipertireoidismo , Hipotireoidismo , Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Criança , Feminino , Masculino , Humanos , Nefrite Lúpica/complicações , Nefrite Lúpica/epidemiologia , Tri-Iodotironina , Estudos Retrospectivos , Lúpus Eritematoso Sistêmico/complicações , Hipotireoidismo/complicações , Hipotireoidismo/epidemiologia , Fatores de Risco
11.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(12): 1972-1977, 2023 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-38186144

RESUMO

Objective: To investigate the incidence and risk factors of systemic allergic reactions induced by subcutaneous immunotherapy (SCIT) in patients undergoing SCIT injections in Peking Union Medical College Hospital (PUMCH). Methods: This is a single center retrospective cohort study. Using the outpatient information system of PUMCH, the demographic information and injection-related reaction data of patients undergoing SCIT injection in Allergy Department of PUMCH from December 2018 to December 2022 were retrospectively analyzed to count the incidence and risk factors of systemic allergic reactions caused by SCIT. Mann-Whitney nonparametric test or chi-square test was used for single-factor analysis, and multiple logistic regression was used for multiple-factor analysis. Results: A total of 2 897 patients received 18 070 SCIT injections in Allergy Department during the four years, and 40 systemic allergic reactions occurred, with the overall incidence rate of 0.22%. The incidence of systemic allergic reaction was 0.37% when using imported dust mite preparation and 0.15% when using domestic multi-component allergen preparation. The risk factors significantly related with SCIT-induced systemic allergic reactions in patients using imported dust mite preparation were age less than 18 years old (OR=3.186,95%CI: 1.255-8.085), highest injection concentration (OR value could not be calculated because all patients with systemic reactions were injected with highest concentration), and large local reaction in previous injection (OR=22.264,95%CI: 8.205-60.411). The risk factors for SCIT-induced systemic allergic reactions in patients using domestic allergen preparation were 5 or more types of allergens (OR=3.455,95%CI: 1.147-10.402), highest injection concentration (OR=3.794,95%CI: 1.226-11.740) and large local reaction in previous injection (OR=63.577,95%CI: 22.248-181.683). However, SCIT injection in pollen allergic patients during the pollen season did not show a correlation with systemic allergic reaction. Conclusion: The incidence of SCIT-induced systemic allergic reactions was low in the Chinese patient population of this study. Patients with one or more risk factors, such as multiple allergen injection, highest injection concentration, large local reaction in previous injection, should be given high attention and vigilance against systemic allergic reactions.


Assuntos
Alérgenos , Dessensibilização Imunológica , Hipersensibilidade , Humanos , Povo Asiático , Dessensibilização Imunológica/efeitos adversos , Hipersensibilidade/epidemiologia , Estudos Retrospectivos
12.
Zhonghua Gan Zang Bing Za Zhi ; 31(11): 1125-1128, 2023 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-38238943

RESUMO

The successful market availability of immune checkpoint inhibitors (ICIs) has brought revolutionary changes to the treatment of hepatocellular carcinoma (HCC). With the widespread application of ICIs in HCC patients, the impact or even termination of antitumor therapy due to ICIs hepatotoxicity is a clinical problem that must be faced. However, it is currently unclear whether there are differences in the occurrence and risk factors of ICI hepatotoxicity between HCC patients and other tumors. At the same time, the chronic liver disease that often accompanies HCC patients also poses great challenges to their diagnosis and management. Therefore, clinical physicians need to understand the coping strategies for ICIs hepatotoxicity so as to improve the benefit of immunotherapy for patients.


Assuntos
Carcinoma Hepatocelular , Doença Hepática Induzida por Substâncias e Drogas , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/terapia , Imunoterapia/efeitos adversos , Capacidades de Enfrentamento , Doença Hepática Induzida por Substâncias e Drogas/etiologia
13.
Plant Physiol Biochem ; 185: 260-267, 2022 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-35717734

RESUMO

Pod shattering is a seed dispersal strategy and an important agronomical trait in domesticated crops. The relationship between pod shattering and pod morphology in the genus Medicago is well known; however, the detailed mechanism underlying pod dehiscence in Medicago ruthenica, a perennial legume used for forage production, is unknown. Here, the pod ventral sutures of shatter-resistant and shatter-susceptible M. ruthenica genotypes were examined at 8, 12, 16, and 20 d after flowering. The mechanism of pod shattering was analyzed through microscopic observations, polygalacturonase (PG) and cellulase (CE) activity analyses, and RNA-sequencing (RNA-Seq), and the results were verified via reverse transcriptase-quantitative polymerase chain reaction. Pod shattering at the ventral suture in M. ruthenica occurs via a combination of two mechanisms: degradation of the middle lamella at the abscission layers (ALs) and detachment of lignified cells on either side of the ALs triggered by physical forces. Increased PG and CE activities in the pod ventral suture are essential for AL cell-autolysis in the shatter-susceptible genotype. RNA-Seq revealed that 11 genes encoding PG and CE were highly expressed in the ventral sutures of the shatter-susceptible genotype. The expression levels of auxin biosynthesis-related genes decreased in the AL cells and they were negatively associated with pod dehiscence. These results enhance our understanding of the pod shattering mechanism not only in M. ruthenica but also in other leguminous plants.


Assuntos
Glycine max , Medicago , Produtos Agrícolas/genética , Genótipo , Medicago/genética , Sementes/genética , Análise de Sequência de RNA , Glycine max/genética
14.
Clin Neuropathol ; 41(6): 245-252, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35770518

RESUMO

BACKGROUND AND AIMS: The early growth response 2 gene (EGR2) mutations are associated with a group of hereditary neuropathy, including axonal neuropathy and hypomyelinating neuropathy or Charcot-Marie-Tooth disease (CMT) type 1D. We aim to perform an electrodiagnostic, nerve imaging, and histological study of EGR2-associated neuropathy. MATERIALS AND METHODS: We performed a retrospective analysis of two patients with EGR2-related neurology at our hospital. The neuropathy was confirmed by the nerve conduction study. Nerve imaging and sural biopsies were performed in two patients. RESULTS: Two unrelated boys exhibited early-onset length-dependent neuropathy. Next generation sequencing identified EGR2 gene with previously described E412K mutation in the third zine finger domain in patient 1 and a previously undescribed variant D355N mutation in the first zinc finger domain in patient 2. The magnetic resonance imaging of the lumbosacral plexus showed no abnormalities in patient 1 and thickened lumbosacral plexuses in patient 2. Electrophysiology and nerve biopsies showed a prominent axonal neuropathy, accompanied with demyelinating involvement. CONCLUSION: Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.


Assuntos
Doença de Charcot-Marie-Tooth , Masculino , Humanos , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Estudos Retrospectivos , Fenótipo , Axônios/patologia , Mutação , Nervo Sural/patologia , Proteína 2 de Resposta de Crescimento Precoce/genética
15.
Artigo em Chinês | MEDLINE | ID: mdl-35610673

RESUMO

Objective: To investigate the oncological and functional efficacy and safety of transoral robotic surgery (TORS) in the treatment of oropharyngeal carcinoma. Methods: Twenty-six patients with oropharyngeal cancer were enrolled who underwent TORS at Beijing United Hospital from June 1, 2017 to December 31, 2020. Among them, 22 patients were males and 4 were females, aged 39 to 76 years old. T1-2 patients accounted for 88.5% (23/26). Clinicopathological data including the time of removal of gastric and endotracheal tube were collected. The SPSS software package was used for survival analysis, and the overall survival rate and disease-free survival rate were calculated. Results: All the 26 patients with oropharyngeal cancer received TORS without conversion to open surgery, and 20 of them underwent simultaneous cervical lymph node dissection. TORS operation time ranged from 65 to 360 minutes with an average of 215 minutes. Intraoperative blood loss ranged from 5 to 600 ml with an average of 70 ml. Four patients (15.4%) underwent tracheotomy, of whom 3 patients had the removals of tracheal tubes within 1 month after surgery and 1 case remained to wear a tube by the end of follow-up. Twelve patients (46.2%) underwent gastric tube implantation, among them, 11 patients had removals of gastric tubes within 1 month after surgery and 1 patient died of oropharyngeal hemorrhage 13 days after operation. One patient (3.8%) had a positive surgical margin and others had pathologically negative surgical margins. Sixteen patients (61.5%) received postoperative radiotherapy, of whom 11 patients (42.3%) received platinum-based concurrent chemotherapy. The median follow-up time was 21.5 months (0.4 to 45 months). The overall survival and the disease-free survival rates were 83.0% and 75.8%, respectively. Conclusion: The application of TORS in treatment of oropharyngeal cancer can achieve good oncological and functional outcomes in selected patients.


Assuntos
Carcinoma , Neoplasias Orofaríngeas , Procedimentos Cirúrgicos Robóticos , Adulto , Idoso , Carcinoma/cirurgia , Feminino , Humanos , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Esvaziamento Cervical , Neoplasias Orofaríngeas/cirurgia , Resultado do Tratamento
16.
Front Nutr ; 9: 1019375, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36618703

RESUMO

Adlay (Coix lacryma-jobi L.), a crop closed related to maize (Zea mays L.) and sorghum (Sorghum bicolor L.), originated in tropical/subtropical regions of Asia and Africa; southwest China primary center of this plant's origin, evolution and migration. Adlay is a traditional high-value minor crop used for both medicinal and dietary purposes. Adlay has anti-tumor, anti-bacterial, anti-inflammatory, analgesic, blood sugar-lowering, and blood lipid-lowering effects. To clarify the main bioactive components and phytochemical compounds and to fully explore their utility, this review summarizes the research done on the main functional ingredients of adlay, including amino acids and proteins, oils, vitamins and minerals, polysaccharides, and polyphenols. This study also highlighted the application of genome sequencing to tailor nutrient-rich adlay cultivars and nutraceutical product development. Additionally, the acquisition of high-density genomic data combined with next-generation phenotypic analysis will undoubtedly improve our understanding of the potential genetic regulation of adlay nutraceutical traits. This review provides new insights and ideas for the research of adlay in comparison and evolutionary genomics, and a useful reference for molecular breeding and genetic improvement of this important minor crop.

17.
Eur J Nucl Med Mol Imaging ; 48(4): 1178-1187, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33057927

RESUMO

PURPOSE: In cancer of unknown primary (CUP), positron emission tomography/computed tomography (PET/CT) with the glucose analog [18F]FDG represents the standard imaging approach for localization of the malignant primary. Frequently, however, [18F]FDG PET/CT cannot precisely distinguish between small occult tumors and chronic inflammation, especially in Waldeyer's tonsillar ring. To improve the accuracy for detecting primary tumors in the Waldeyer's tonsillar ring, the novel PET tracer [68Ga]Ga-FAPI-4 for specific imaging of fibroblast activation protein (FAP) expression was used as a more specific target for cancer imaging. METHODS: Eight patients with suspicion of a malignant tumor in Waldeyer's tonsillar ring or a CUP syndrome were examined. PET/CT scans with [18F]-FDG and [68Ga]Ga-FAPI-4 were performed for pre-operative tumor localization. After surgical resection, histopathological and immunohistochemical results were compared to PET/CT findings. RESULTS: Histopathology revealed a palatine or lingual tonsil carcinoma in all patients. In case of lymph node metastases smaller than 7 mm in size, the [18F]FDG PET/CT detection rate of cervical lymph node metastases was higher than that of [68Ga]FAPI PET/CT, while both tracers identified the primary tumors in all eight cases. The size of the primary and the lymph node metastases was directly correlated to the respective FAP expression, as detected by immunohistochemistry. The mean SUVmax for the primary tumors was 21.29 ± 7.97 for 18F-FDG and 16.06 ± 6.29 for 68Ga-FAPI, respectively (p = 0.2). The mean SUVmax for the healthy contralateral tonsils was 8.38 ± 2.45 for [18F]FDG and 3.55 ± 0.47 for [68Ga]FAPI (p < 0.001). The SUVmax ratio of [68Ga]FAPI was significantly different from [18F] FDG (p = 0.03). Mean TBRmax for the [68Ga]Ga-FAPI-4 tracer was markedly higher in comparison to [18F]FDG (10.90 vs. 4.11). CONCLUSION: Non-invasive imaging of FAP expression by [68Ga]FAPI PET/CT resulted in a better visual detection of the malignant primary in CUP, as compared to [18F]FDG imaging. However, the detection rate of lymph node metastases was inferior, presumably due to low FAP expression in small metastases. Nevertheless, by offering a detection method for primary tumors with the potential of lower false positive rates and thus avoiding biopsies, patients with CUP syndrome may benefit from [68Ga]FAPI PET/CT imaging.


Assuntos
Neoplasias Primárias Desconhecidas , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Fluordesoxiglucose F18 , Radioisótopos de Gálio , Humanos , Linfonodos , Neoplasias Primárias Desconhecidas/diagnóstico por imagem
19.
Zhonghua Yi Xue Za Zhi ; 100(36): 2858-2860, 2020 Sep 29.
Artigo em Chinês | MEDLINE | ID: mdl-32988147

RESUMO

Objective: To explore the clinical value of robot-assisted laparoscopic transabdominal preperitoneal (TAPP) inguinal hernia repair. Methods: We performed a retrospective review of 23 consecutive patients who underwent robotic inguinal hernia repair from January 2018 to December 2019 at Beijing United Family hospital. The patients were all male with mean age 48.8 (17-72) years and BMI 25.8 (21.2-32.6)kg/m(2). Data examined included perioperative bleeding, operative times, length of stay, pain scale ratings and postoperative complication. Results: There were no major complications during the surgeries including no significant intraoperative bleeding, injury to the vas deferens or major vascular structures. There were no conversions to open. No patients received prophylactic antibiotics according to our hospital policy. No surgical site infections were found. All patients were discharged home within the 24-hour postoperative period. The mean operating time of 13 cases of unilateral hernia was 121 (82-165) min, and that of 10 cases of bilateral hernia was 166 (100-315) min. The mean intraoperative blood loss was 13.3 ml (5-25 ml). The average pain score in recovery was 0.96 (0-3). The total length of stay was 28.4 (24.2-37.5) h. During a follow-up period of 3-18 months, none of the patients experienced a recurrent hernia. None experienced chronic pain or discomfort in the operative field. Conclusions: The robotic surgical platform facilitates a new safe, minimally invasive approach to groin hernia. Because of improved ergonomics, visualization and wristed instrumentation, the robotic approach enabled creation of larger peritoneal flaps and had the potential for less injuries. The major advantage to the patient is a shorter hospital stay, and more rapid postoperative recovery and decreased postoperative pain, lower complications and recurrences.


Assuntos
Hérnia Inguinal/cirurgia , Laparoscopia , Robótica , Idoso , Herniorrafia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
20.
Zhonghua Yi Xue Za Zhi ; 100(14): 1087-1090, 2020 Apr 14.
Artigo em Chinês | MEDLINE | ID: mdl-32294873

RESUMO

Objective: To investigate the goal-oriented retroperitoneoscopic adrenalectomy and report the initial experiment. Methods: A total of 102 patients were selected to our clinic experiment, and performed retroperitoneoscopic adrenalectomy with the new method. including adrenal cortex adenoma 76 cases, phaochromocytoma 12 cases, adrenal cyst 6 cases, myelolipoma 4 cases, gangliocytoma 1 case and corticohyperplassia 3 cases. The mean diameter of the tumors was 2.8 cm (0.5-5.8 cm). The operative procedure was briefly described as such, with ultrasound guiding, a needle was punched percutaneously up to the adrenal mass or the renal upper pole from lateral to posterior axillary line just below the inferior border of the 12th rib. labeled the pathway of the needle with methylene blue. Along the way of the needle, a 12 mm port was introduced into the retroperitoneal space with closed method, and the laparoscope with a working tunnel was introduced to make a tunnel along the label up to the adrenal for finally removing it. Additional port should be used when it was needed in the procedure. Results: The procedures of all patients were successful, and 10 patients were performed with only one port, 81 patients with two ports, 11 patients with three ports. The operative duration was 49 (31-115) min, the average blood loss was 38 (0-260) ml. There was no transition to open surgery and no perioperative complications. The length of postoperative hospital stay was 4.1 d (2-7 d). 98 patients were available for follow-up of 16.5 months (1-38 months), no complication was found. Conclusions: The new method of retroperitoneoscopic adrenalectomy is feasible and safe for renal masses, and compared to the conventional method, it may be less trauma to the abdominal wall and retropertoneal tissue, and it was also better on cosmetics.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Neoplasias das Glândulas Suprarrenais/cirurgia , Objetivos , Humanos , Laparoscopia , Espaço Retroperitoneal
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA