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Objective: To investigate the long-term therapeutic effects and safety of renal denervation (RDN) on hypertensive patients with different cardiovascular risks, as well as its impact on adverse events, cardiovascular death and all-cause mortality. Methods: This was a single-center, single-arm, real-world retrospective study. Patients with refractory hypertension who underwent RDN at Tianjin First Central Hospital from July 6, 2011 to December 23, 2015 were enrolled and divided into either a high or intermediate-low risk group based on baseline cardiovascular risk. The treatment responsiveness of hypertensive patients with different cardiovascular stratification to RDN was assessed by comparing the results of office blood pressure, home blood pressure, and 24-h ambulatory blood pressure monitoring at 1, 5, and 11 years after RDN. Long-term safety of RDN was assessed by creatinine, and estimated glomerular filtration rate (eGFR) at 1 and 11 years after RDN. In addition, the total defined daily dose (DDD) of antihypertensive medications and the incidence of long-term adverse events, cardiovascular deaths, and all-cause deaths after RDN were followed up 11 years after RDN in person or by telephone. Results: A total of 62 patients with refractory hypertension, aged (50.2±15.0) years, of whom 35 (56.5%) were male, were included. There were 35 cases in high-risk group and 27 cases in low and medium risk group. The decrease in clinic systolic blood pressure (high risk vs. low-medium risk: (-38.0±15.1) mmHg vs. (-25.0±16.6) mmHg(1 mmHg=0.133kPa),P=0.002), home self-measured systolic blood pressure ((-28.4±12.7) mmHg vs. (-19.7±13.1) mmHg,P=0.011) and clinic systolic blood pressure 11 years after RDN ((-43.0±18.4) mmHg vs. (-27.8±17.9) mmHg,P=0.003) in the high-risk group was significantly higher than that in the low-medium risk group. The differences in heart rate and the decrease in total DDD number of antihypertensive drugs between the two groups were not statistically significant (all P>0.05). Creatinine and eGFR levels in the two groups at 1 and 11 years after RDN were not statistically significant when compared with the baseline values (all P>0.05). The cumulative cardiovascular mortality rate was 1.6% (1/62) and 8.1% (5/62), and the cumulative all-cause mortality rate was 3.2% (2/62) and 11.3% (7/62) at 5 and 11 years after RDN, respectively. The differences in the incidence rate of adverse events, cardiovascular mortality, and all-cause mortality rate between the two groups were not statistically significant (all P>0.05). Conclusions: RDN has long-term antihypertensive effect and good safety. Hypertensive patients who belong to the high-risk stratification of cardiovascular risk may respond better to RDN treatment.
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Presión Sanguínea , Enfermedades Cardiovasculares , Hipertensión , Simpatectomía , Humanos , Estudios Retrospectivos , Simpatectomía/métodos , Resultado del Tratamiento , Antihipertensivos/uso terapéutico , Riñón/fisiopatología , Factores de Riesgo , Masculino , Persona de Mediana Edad , FemeninoAsunto(s)
Terapia Genética , Diagnóstico Prenatal , Humanos , Embarazo , Diagnóstico Prenatal/métodos , Femenino , Terapia Genética/métodos , Pruebas Genéticas/métodos , Mutación , Enfermedades del Sistema Inmune/terapia , Enfermedades del Sistema Inmune/inmunología , Enfermedades del Sistema Inmune/congénito , Terapias Fetales/métodosRESUMEN
Objective: To explore the risk factors of rebleeding in patients with obscure gastrointestinal bleeding (OGIB) after capsule endoscopy (CE), and construct a model to predict rebleeding. Methods: The data of patients with OGIB who underwent CE in Zhongda Hospital Affiliated to Southeast University from July 2018 to September 2021 were retrospectively analyzed. Follow-up data were obtained via electronic medical records or telephone interviews. Univariate and multivariate Cox regression models were performed to figure out the risk factors of rebleeding in OGIB patients. Then the optimal prediction model was determined and presented as a nomogram. The model was evaluated by C statistic, calibration curve and decision curve analysis. Results: One hundred and thirty patients with OGIB were included, including 64 females and 66 males, aged (55.8±17.2) years (18-87 years), and 39 (30.0%) cases developed rebleeding during follow-up. Univariate and multivariate Cox regression model analysis showed the duration of more than 2 weeks OGIB (HR=3.70, 95%CI: 1.85-7.42, P<0.001), a history of previous gastrointestinal bleeding (HR=5.25, 95%CI: 2.00-13.81, P<0.001), positive CE findings (HR=3.72, 95%CI: 1.66-8.33, P=0.001), and the lowest hemoglobin level before CE<80 g/L (HR=2.00, 95%CI: 1.02-3.84, P=0.044) were risk factors for rebleeding, while specific treatment (HR=0.25, 95%CI: 0.11-0.54, P<0.001) was a protective factor. The corresponding scores of the above five predictive factors were: OGIB duration>2 weeks: 79 points; Previous history of gastrointestinal bleeding: 100 points; The result of CE was positive: 79 points; Specific treatment:-85 points; Minimum hemoglobin before CE<80 g/L: 41 points. The prediction model constructed from the above five variables had good discriminative capability (concordance index=0.798, 95%CI: 0.732-0.865). The calibration curves showed high consistency between nomogram-predicted probabilities and actual observations. The decision curves showed that when the threshold probability was above 0.04, the use of the nomogram to predict rebleeding provided a greater net benefit than the assumption of "all patients rebleeding or no patients rebleeding". Conclusion: The prediction model established in this study has a good ability to predic rebleeding in patients with OGIB after CE examination.
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Endoscopía Capsular , Masculino , Femenino , Humanos , Endoscopía Capsular/efectos adversos , Estudios Retrospectivos , Recurrencia , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/terapia , HemoglobinasRESUMEN
To evaluate the safety and efficacy of esophageal stent-in-stent (SIS) in patients with refractory esophageal self-expandable metal stents (SEMS). Case series study. Retrospective analysis was made on the patients with refractory esophageal SEMS treated with SIS technology in Zhongda Hospital Affiliated to Southeast University from June 2015 to June 2021. The success rate of stent removal and the incidence of adverse events were analyzed. A total of 12 patients were included, including 7 males and 5 females, aged 50-73 (62.7±8.5) years. The clinical success rate of the internal stents was 12/12, with the median retention time of [M(Q1, Q3), 64.5 (52.0, 90.8)] days. The postoperative displacement rate and severe stenosis incidence were 1/12 and 3/12, respectively. The esophageal stents were successfully removed in one endoscopic session in all patients. A small amount of mucous membrane extravasation occurred in all patients after SIS, and no patients died after 90 days of follow-up.
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Remoción de Dispositivos , Stents , Femenino , Masculino , Humanos , Estudios Retrospectivos , Constricción Patológica , MuerteRESUMEN
OBJECTIVE: To evaluate the pathological characteristics of endoscopic submucosal dissection (ESD) specimens for early gastric cancer and precancerous lesions, accumulating experience for clinical management and pathological analysis. METHODS: A total of 411 cases of early gastric cancer or precancerous lesions underwent ESD. According to the Japanese guidelines for ESD treatment of early gastric cancer and classification of gastric carcinoma, the clinicopathological data, pathologic evaluation, concordance rate of pathological diagnosis between preoperative endoscopic forceps biopsies and their ESD specimens (in 400 cases), as well as the risk factors of non-curative resection of early gastric cancer, were analyzed retrospectively. RESULTS: 23.4% (96/411) of the 411 cases were adenoma/low-grade dysplasia and 76.6% (315/411) were early gastric cancer. The latter included 28.0% (115/411) non-invasive carcinoma/high-grade dysplasia and 48.7% (200/411) invasive carcinoma. The concordance rate of pathological diagnosis between endoscopic forceps biopsies and ESD specimens was 66.0% (264/400), correlating with pathological diagnosis and lesion location (P < 0.01). The rate of upgraded diagnosis and downgraded diagnosis after ESD was 29.8% (119/400) and 4.2% (17/400), respectively. Among the 315 cases of early gastric cancer, there were 277 cases (87.9%) of differentiated type and 38 cases (12.1%) of undifferentiated type. In the study, 262 cases (83.2%) met with absolute indication, while 53 cases (16.8%) met relative indication. En bloc and curative resection rates were 98.1% and 82.9%, respectively. Risk factors for non-curative resection included a long diameter >20 mm (OR=3.631, 95%CI: 1.170-11.270, P=0.026), tumor infiltration into submucosa (OR=69.761, 95%CI: 21.033-231.376, P < 0.001)and undifferentiated tumor histology (OR=16.950, 95%CI: 4.585-62.664, P < 0.001). CONCLUSION: Several subjective and objective factors, such as the limitations of biopsy samples, the characteristics and distribution of the lesions, different pathological understanding, and the endoscopic sampling and observation, can lead to the differences between the preoperative and postoperative pathological diagnosis of ESD. In particular, the pathological upgrade of postoperative diagnosis was more significant and should receive more attention by endoscopists and pathologists. The curative resection rate of early gastric cancer in ESD was high. Non-curative resection was related to the long diameter, the depth of tumor invasion and histological classification. ESD can also be performed in undifferentiated early gastric cancer if meeting the indication criteria. The comprehensive and standardized pathological analysis of ESD specimens is clinically important to evaluate the curative effect of ESD operation and patient outcomes.
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Resección Endoscópica de la Mucosa , Lesiones Precancerosas , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patología , Estudios Retrospectivos , EndoscopíaRESUMEN
Objective: To explore the clinical characteristics and risk factors of pediatric patients with Wiskott-Aldrich syndrome (WAS). Methods: This was a case-control study. Clinical data of 165 cases of pediatric patients with WAS, who visited the Department of Rheumatology, Children's Hospital of Chongqing Medical University between January 2007 and August 2020 were retrospectively analyzed and divided into death group and survival group (control group) according to the prognosis in the follow-up. Two independent samples t-test, Welch approximate t-test, Mann-Whitney U test, Pearson χ² test, Yates corrected χ² test, or Fisher exact probability test were used for comparison between groups. Risk factors were analyzed by multivariate Logistic regression analysis. Results: A total of 165 patients with Wiskott-Aldrich syndrome were enrolled in this study, including 40 cases in the death group and 125 cases in the survival group. The WAS score was (4.1±0.8) score in the death group and (3.1±1.2) score in the survival group. The age was 19 (9, 28) months in the death group and 60 (36,86) in the survival group. The episode rates of recurrent infection and (or) severe infection, intracranial hemorrhage and eczema in the death group were significantly higher than those in the survival group (95.0% (38/40) vs.32.0% (40/125),25.0% (10/40) vs. 2.4% (3/125), 90.0% (36/40) vs. 72.0% (90/125), χ²=48.253, 18.325, 5.440, all P<0.05). Infection (22 cases, 55.0%) and intracerebral hemorrhage (15 cases, 37.5%) were the main causes of death, 3 cases (7.5%) died of severe graft-versus-host disease after transplantation. The Logistic regression model indicated that repeated infection and (or) severe infection and non-use of intravenous immunoglobulin (IVIG) replacement therapy were risk factors for death in Chinese WAS patients (OR values were 8.999 and 2.860, 95% CI were (2.041-39.667) and (1.375-5.950), respectively, all P<0.05). Conclusions: Recurrent and (or) severe infection is the main risk factor of death for WAS patietns. Regular IVIG treatment can improve the survival rate of patients with WAS.
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Enfermedad Injerto contra Huésped , Síndrome de Wiskott-Aldrich , Estudios de Casos y Controles , Niño , Humanos , Lactante , Pronóstico , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Objective: To analyze the clinical characteristics of congenital agammaglobulinemia and the efficacy of intravenous immunoglobulin (IVIG) replacement therapy for this disease. Methods: The basic characteristics, clinical manifestations, laboratory examinations, and outcomes of 114 patients with congenital agammaglobulinemia diagnosed in Children's Hospital of Chongqing Medical University from January 1988 to April 2020 were retrospectively analyzed. The efficacy of IVIG in improving the clinical symptoms between regular and irregular treatment groups were compared by χ2 test. To explore the clinical characteristics associated with delayed diagnosis and treatment, the patients were also stratified into following subgroups: non-cough, short-term cough and long-term cough groups, chronic lung disease and non-chronic lung disease groups, and arthritis and non-arthritis groups. The age at onset, age at diagnosis, time consumed for diagnosis, initial time of immunoglobulin replacement, dose of IVIG, IgG trough level between the above groups were compared by t test, F test or non-parametric test. Results: All the 114 patients were male, with the onset age of (22±18) months. The age at diagnosis was (89±54) months, time consumed in diagnosis was (63±46) months, and the initial time of immunoglobulin replacement was (75±45) months. A total of 66 patients had been followed up to April 2020, with a follow-up period of (54±41) months. Among these children, 42 (63.6%) received regular infusion, whose monthly IVIG dose was (538±105) mg/kg and IgG trough level was (5.8±1.5) g/L, whereas 24 patients (36.4%) were treated irregularly. There was no significant difference in the improvement rate of fever, cough, sinusitis, diarrhea, otitis media and arthritis between regular and irregular IVIG replacement groups (all P>0.05). Sixty-one out of the 66 patients (92.4%) had fever before IVIG treatment, whose fever episodes were significantly decreased after IVIG treatment (5 (2,12) vs. 0 (0, 1) per year, Z =-6.436, P<0.01). Sixty patients (90.9%) suffered from wet cough before treatment and 36 (54.5%) after treatment. Initial time of immunoglobulin replacement was significantly delayed in the long-term cough (27 cases) and short-term cough groups (9 cases) compared with non-cough group (18 cases) ((97±51) vs. (64±41) vs. (63±42) months, F=3.554, P=0.035). Twenty-nine patients (43.9%) were diagnosed with chronic lung disease, whose initial time of immunoglobulin replacement (103 (75,144) vs. 46 (26,64) months, Z=-4.330, P<0.01), age at diagnosis (103 (75,142) vs. 47 (31,68) months, Z=-3.486, P<0.01), and time consumed in diagnosis (91 (55,129) vs. 29 (10,41) months, Z =-4.386, P<0.01) were significantly later and longer than those in children without chronic lung disease (37 cases). In addition, thirty-two patients(48.5%) were diagnosed with arthritis, whose initial time of immunoglobulin replacement ((98±51) vs. (58±39) months,t=3.420, P=0.001) and time consumed in diagnosis ((74±49) vs. (44±40) months, t=2.600, P=0.010) were also significantly later and longer than those in children without arthritis (34 cases). Conclusions: After immunoglobulin replacement therapy, the clinical symptoms such as fever, sinusitis, diarrhea, and otitis media can be improved more or less. However, long-term wet cough, chronic lung disease, and arthritis are still prominent clinical problems, which could be controlled by standard immunoglobulin replacement therapy in some patients.
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Agammaglobulinemia , Enfermedades Genéticas Ligadas al Cromosoma X , Agammaglobulinemia/tratamiento farmacológico , Niño , Preescolar , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Masculino , Estudios RetrospectivosRESUMEN
The article "DUSP22 promotes senescence of HS-1 skin cancer cells through triggering MAPK signaling pathway, by X.-D. Zhao, C. Huang, R.-X. Wang, S.-A. Wang, published in Eur Rev Med Pharmacol Sci 2018; 22 (22): 7819-7825-DOI: 10.26355/eurrev_201811_16406-PMID: 30536326" has been withdrawn from the authors due to substantial deficiency in the experimental design. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/16406.
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From May 2014 to January 2018, 6 patients with severe flexion contracture deformity caused by palmar cicatricial hyperplasia of adjacent 2 or 3 fingers were admitted to the Yidu Central Hospital of Weifang. There were 4 males (8 fingers) and 2 females (5 fingers), aged 13-51 years.The degrees of flexion of proximal interphalangeal joint of affected fingers and metacarpophalangeal joint were respectively 60-90°and 60-80°, and the total degree of passive extension of metacarpophalangeal joint, proximal interphalangeal joint, and distal interphalangeal joint was from -180 to -120°. After scar resection, tendon release, and extension of affected fingers, bone and/or tendon were exposed, and the wound area was 4.0 cm×2.0 cm-8.5 cm×4.0 cm.The wound was repaired with trifoliated flap composed of fibular flap of great toe, abdominal flap of the second toe, and plantar metatarsal flap, with flap area of 4.5 cm×2.5 cm-9.0 cm×4.5 cm.The plantar metatarsal wound of the donor site was sutured directly, and the remaining wound was repaired with full-thickness skin graft from the outside of the thigh. All the wounds of patients were healed. All flaps survived and had good blood circulation without vascular crisis after operation.During follow-up of 6 months to 2 years, the flaps were with good appearance, no swelling, similar in color to the surrounding skin, soft in texture, good in sensations of touch and pain, and the distance of discrimination of 6-8 mm. The active and passive flexion and extension of the affected fingers were good, and there was no dysfunction in the donor site of foot, only with slight scar. The article showed that trifoliated flap from toe web is one of the best methods to repair the severe contracture flexion deformity of fingers caused by severe cicatricial hyperplasia of palmar side, especially the soft-tissue defect of the skin after the cicatricial hyperplasia of adjacent 2 or 3 fingers is removed.
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Contractura , Adolescente , Adulto , Contractura/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos de Cirugía Plástica , Trasplante de Piel , Traumatismos de los Tejidos Blandos , Colgajos Quirúrgicos , Dedos del Pie , Resultado del Tratamiento , Adulto JovenRESUMEN
Objective: To analyze the clinical and immunological characteristics of a patient with activated phosphoinositide 3-kinase δ syndrome 2 (APDS2). Methods: A retrospective analysis of clinical data, immune-related gene sequencing, imaging and laboratory findings of a patient with APDS2 admitted to Children's Hospital of Chongqing Medical University was performed. The absolute and relative numbers of peripheral lymphocyte subsets, immune cell subsets and phenotypes were detected by flow cytometry with the age matched healthy child or the patient's father as a control. Results: A female patient aged 6 years and 4 months old was firstly admitted due to paleness over one month and cough for 7 days in June 2017. The IgA (<0.067 g/L) decreased while the IgM (2.55 g/L) increased. The abdominal ultrasound found hepatomegaly (subcostal 1.7 cm) and splenomegaly (subcostal 3.6 cm), and gene sequencing revealed a heterozygous mutation in the PIK3R1 gene c.1425+1G>A. After the treatment with prednisone which was initiated with a dose of 10 mg/times, 3 times/d and continued and tapered over 7 months, the IgM decreased to normal (1.72 g/L), and the hepatomegaly (subcostal 0 cm) and splenomegaly (subcostal 0.5 cm) were improved. The patient was readmitted due to pale and sallow complexion for half a month in July 2019. The percentage of naive CD4(+)T (0.386) and naive CD8(+)T cells (0.271) were decreased while the percentage of terminally differentiated effector memory CD8(+)T cells (0.377) and transitional B cells (0.223) were increased. The mean fluorescence intensity (MFI) of phosphorylated protein kinase B (AKT) in CD3(+)T, CD4(+)T and CD8(+)T cells were higher in the patient (4 125, 5 213, 3 497) than those in her father (3 434, 3 312, 3 058). The percentage of follicular helper T cell (Tfh) (0.299), Th1 (0.491) and Th1-like cells (0.438) in the patient were higher than those in the healthy control (0.156,0.313,0.303), while the percentage of Th17 (0.126) and Th17-like cells (0.188) were lower than those in the healthy control (0.198, 0.315). And the percentage of CD57 in the patient (0.306) was also higher than that in the healthy control (0.246). Conclusions: The humoral immunity and cellular immunity of APDS2 patient are impaired to varying degrees. The steroid can improve the lymphoproliferation and autoimmune hemolytic anemia in this case.
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Enfermedades de Inmunodeficiencia Primaria/inmunología , Niño , Fosfatidilinositol 3-Quinasa Clase I/genética , Fosfatidilinositol 3-Quinasa Clase I/inmunología , Fosfatidilinositol 3-Quinasa Clase Ia/genética , Femenino , Heterocigoto , Humanos , Inmunidad Celular , Inmunidad Humoral , Subgrupos Linfocitarios , Enfermedades de Inmunodeficiencia Primaria/genética , Estudios Retrospectivos , Subgrupos de Linfocitos TRESUMEN
Bacillus widely exists in wet natural environment such as soil, water and air, and is often studied as one of representative microorganisms for microbiologically influenced corrosion(MIC) research. In this paper, the growth curve of Bacillus subtilis isolated from marine environment was determined by turbidimetry and its effect on corrosion behavior of 10MnNiCrCu steel was studied by open circuit potential, AC impedance, polarization curve and scanning electron microscopy(SEM). The results showed that with the change of the growth curve of Bacillus subtilis(BS), the open circuit potential(Eocp) shifted positively and then negatively, and the charge transfer resistance shown by AC impedance was much lower than that of the sterile system, increasing first and then decreasing. The polarization curves showed that the corrosion current density in BS medium was obviously higher than that in sterile system. The corrosion morphology observation showed that although a biofilm by BS developed on the steel surface, the localized corrosion of 10MnNiCrCu steel was aggravated due to the acidness of the metabolite itself and the biofilm with access for electrolyte ions.
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Bacillus subtilis/fisiología , Biopelículas , Acero/química , Bacillus subtilis/crecimiento & desarrollo , Biopelículas/crecimiento & desarrollo , Cromo/química , Cobre/química , Corrosión , Manganeso/química , Níquel/química , Microbiología del AguaRESUMEN
Objective: To explore the clinical phenotype, immunological features, pathogenesis and gene variation of a case with A20 haploinsufficiency (HA20). Methods: A patient diagnosed with tumor necrosis factor α-induced protein 3 (TNFAIP3) mutated HA20 was admitted into Shenzhen Children's Hospital in May,2019.The clinical data was analyzed. Flow cytometry was used to detect the patient's peripheral blood lymphocyte subsets, and also, the percentage of follicular helper T cell (TFH) cells in the patient and thirteen healthy controls. After the construction of empty vector, wild-type and mutant plasmid vectors, a wild-type or mutant overexpression system of the TNFAIP3 gene was established in 293T cells and Hela cells. Then, the expression level of A20 in 293T cells and the expression of inhibitor K binding α (IKBα) in green fluorescent protein (GFP)+Hela cells before and after tumor necrosis factor α (TNF-α) stimulation were measured, to verify the pathogenicity of this variation. Results: A 5 years and 11 months old boy, presented with recurrent oral ulcer, abdominal pain, joint swelling and arthralgia. Oral ulcer, chronic skin rashes, knee joint swelling were observed. The levels of inflammatory markers were increased. Colonoscopy showed congestion of mucosa and multiple ulcers in terminal ileum and ileocecus. The absolute number of naive B cells was 124×10(6) cells/L (reference range 147×10(6)-431×10(6) cells/L), accounting for 0.430 of the total B cells (reference range 0.484-0.758). Compared to healthy controls (0.016-0.071), the percentage of TFH cells in CD4(+)T cells was much lower (0.008).A heterozygous mutation of TNFAIP3 gene (c.909_913 del, p.L303fs) was identified by genetic analysis. In vitro study showed that truncated A20 protein was expressed in TNFAIP3 mutant overexpressed 293T cells, which verified the pathogenicity of this variation. Besides, after TNF-α stimulation, the degradation rate of IkBα protein in mutant overexpressed Hela cells (35%) was between the other two groups (15% in the wild-type group and 57% in the non-loaded group). Conclusions: This case with HA20 due to a de novo TNFAIP3 gene mutation presents with early onset Behcet-like autoinflammatory syndrome. This variation leads to expression of truncated A20 protein, enhanced degradation of IkBα, and further activation of nuclear factor κB signaling pathway.
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Enfermedades Autoinmunes , Haploinsuficiencia , FN-kappa B , Proteína 3 Inducida por el Factor de Necrosis Tumoral alfa , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/genética , Preescolar , Haploinsuficiencia/genética , Células HeLa , Heterocigoto , Humanos , Masculino , Fenotipo , Proteína 3 Inducida por el Factor de Necrosis Tumoral alfa/genéticaRESUMEN
Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10(-3)/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10(-3)/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions: BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.
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Trastornos del Neurodesarrollo , Factores de Transcripción , Proteínas Supresoras de Tumor , Preescolar , Heterocigoto , Humanos , Masculino , Mutación , Trastornos del Neurodesarrollo/genética , Proteínas Represoras , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genéticaRESUMEN
Circulating tumor cells (CTC) disseminate from primary tumors by undergoing epithelial mesenchymal transition that allow their entry into the circulation to drive metastatic formation in pancreatic cancer patients.Technological advances in detection and characterization of CTC are conducive to the early diagnosis, differential diagnosis, monitoring disease progression and predicating the probability of canceration or the chemotherapeutic efficacy. Nowadays, detection methods of CTC can be based on immunomagnetic beads technique, cell filtration or microfluidic chips technology, but there are great differences in the sample throughput, CTC recovery rate, purity, and CTC viability among them.Owing to the dilemma in detection methods, the intrinsic relevance between the biological characteristics of CTC and clinical manifestations is still not exactly elucidated. By the improved methodology, next generation sequencing technology and exploring the technique for culturing CTC in vitro and establishing xenotransplanted tumor model in nude mice, more and more biological information will be revealed, and finally, individualized treatment is achieved.
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Células Neoplásicas Circulantes/patología , Neoplasias Pancreáticas/patología , Biomarcadores de Tumor/análisis , Progresión de la Enfermedad , HumanosRESUMEN
OBJECTIVE: Skin cancer severely threatens the public health. Dual-specificity protein phosphatase 22 (DUSP22) characterizes with multiple roles regulating cell growth, proliferation and gaining. This study aims to investigate the regulatory role of DUSP22 on aging of skin cancer cells and clarify molecular mechanisms, along with potential application value. PATIENTS AND METHODS: HS-1 skin cancer cells were transfected with DUSP22 by liposome transfection approach. Western blot assay was used to evaluate the effects of DUSP22 on aging protein of HS-1 cells, and activation of mitogen-activated protein kinase cascade (MAPK) signal pathway. Real-time PCR (RT-PCR) and Western blot assay were used to examine the DUSP22 expression in HS-1 cancer cells. Meanwhile, the correlation between P53 protein and aging was also investigated. RESULTS: Transfection of DUSP22 plasmid significantly elevated DUSP22 expression in HS-1 skin cancer cells compared to un-transfected cells (p<0.05), and activated MAPK to induce cell aging. Transfection of small interfere RNA (siRNA) DUSP22 significantly suppressed DUSP22 expression in HS-1 cancer cells, inhibited MAPK signal pathway, and decreased aging proteins P53 and P21 compared to the untreated group (p<0.05). DUSP22 was downregulated in HS-1 skin cancer cells, with MAPK signal pathway inhibition, and lower aging protein P53 expression. DUSP22 expression was positively correlated with aging protein P53 (p<0.05). CONCLUSIONS: DUSP22 facilitated HS-1 skin cancer cell aging via activating MAPK signal pathway, possibly providing novel strategy against skin cancer.