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Objective: To describe the clinical features, genetic characteristics, and diagnosis of Marsili syndrome, an extremely rare disease which should be differentiated from other fever disorders. Methods: The clinical data and diagnostic process of a case with Marsili syndrome, hospitalized in the Department of Respiratory and Critical Care Medicine, the Eighth Medical Center of Chinese PLA General Hospital in February 2021, were summarized. The exon regions of 20, 000 genes of peripheral blood were detected in the patient and her parents. Using key words of"Marsili syndrome"and"ZFHX2 gene mutation", the related literatures were searched in Wanfang and PubMed databases from January, 2000 to November, 2021. In addition, the literatures of congenital insensitivity to pain and anhidrosis were retrieved in Wanfang domestic database from the same period. Results: A 23-year-old female patient had suffered from recurrent fever for more than two years, accompanied by anhidrosis, insensitive to pain and weakened corneal reflex. The effect of non-steroidal anti-inflammatory drugs for fever was minimal. The ZFHX2 gene mutation was positive in the patient and her mother, while NTRK1 gene mutation specific to congenital insensitivity to pain with anhidrosis (CIPA) was negative. The ZFHX2 gene mutation was negative in her father. A total of 2 literatures of Marsili syndrome were retrieved and a total of 6 cases of Marsili syndrome in one family were reported worldwide up to now. These patients had a group of similar symptoms including fever, little or no sweating, and insensitivity to pain caused by skin burn and bone fracture. However, there was no abnormality in headache and visceral pain, and female patients' childbirth pain as well as tactile sensation in these cases. The corneal reflex was decreased or negative. They had less sensitivity to stimulus of capsaicin. The ZFHX2 gene mutation was positive, but NTRK1 gene was not detected in all patients. A total of 4 literatures were retrieved and a total of 34 cases of CIPA were reported in China. Though Marsili syndrome and CIPA exhibited a number of similar clinical manifestations, they were distinct diseases and had obviously different outcome. Conclusions: Marsili syndrome is an autosomal dominant genetic disease. It is extremely rare worldwide. In clinical practice, when a patient presents with unexplained recurrent fever and poor effect of non-steroidal anti-inflammatory drugs, especially with the symptoms of no sweating and insensitivity to pain, the possibility of Marsili syndrome should be considered and the ZFHX2 gene should be determined. Marsili syndrome appears to be a benign disease with a good prognosis. A definitive diagnosis can avoid ineffective treatment and its adverse effects. To our knowledge, there is currently no effective genetic therapy for this disease.
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Neuropatias Hereditárias Sensoriais e Autônomas , Hipo-Hidrose , Insensibilidade Congênita à Dor , Adulto , Anti-Inflamatórios , Canalopatias , Feminino , Febre/etiologia , Humanos , Hipo-Hidrose/genética , Mutação , Dor , Insensibilidade Congênita à Dor/genética , Receptor trkA/genética , Adulto JovemRESUMO
OBJECTIVE: To compare the effect of various fluid resuscitation procedures after hemorrhagic shock on the lactic acid accumulation by network meta-analysis. MATERIALS AND METHODS: A number of articles were obtained by searching the databases. Randomized control trials (RCT) were selected by two literature quality assessors; the extracted experimental data were then summarized to compare and analyze the effect of various kinds of infusion procedures at different time points on the concentration of lactic acid in the internal environment of rat models. RESULTS: 9 articles containing 25 independent reports were enrolled. Results revealed that the accumulation of lactic acid generated in the resuscitation using hydroxyethyl starch solution or gelofusine was significantly different from the one using Ringer solution, hypertonic saline or normal salt solution (p<0.05). Compared to the colloidal, the aqueous solution of pyruvate showed a slightly weaker effect in reducing the accumulation of lactic acid. The accumulation of lactic acid is severely affected by hypertonic saline, Ringer lactate solution, and balanced salt solution, i.e., the concentration of lactic acid is increasing with an augment of concentration or prolongation of treatment time. CONCLUSIONS: In terms of the management of lactic acid accumulation after hemorrhagic shock, the effect of colloidal solution was remarkably better than a crystalloid solution, and hypertonic saline and normal salt solution were not recommended as preferable drugs in the treatment of hemorrhagic shock.
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Hidratação/métodos , Ácido Láctico/sangue , Substitutos do Plasma/administração & dosagem , Ressuscitação/métodos , Choque Hemorrágico/terapia , Coloides , Soluções Cristaloides/administração & dosagem , Humanos , Metanálise em Rede , Prognóstico , Ensaios Clínicos Controlados Aleatórios como Assunto , Índice de Gravidade de Doença , Choque Hemorrágico/sangue , Choque Hemorrágico/diagnóstico , Resultado do TratamentoRESUMO
OBJECTIVE: Non-small cell lung cancer (NSCLC), as an ordinary malignant tumor, presents with high death rate and poor prognosis. Few literatures have explored the association between NSCLC development and lncRNAs expression. This study focuses on the important role of a novel lncRNA TRPM2-AS in the development of chemo-resistance in NSCLC. MATERIALS AND METHODS: The expression level of lncRNA TRPM2-AS was identified by using qRT-PCR assay. The apoptosis rate and the alteration of the cell cycle were detected by the flow cytometric analysis. Cell Counting Kit-8 assay (CCK8) was utilized for detecting chemo-sensitivity of the cisplatin-resistant A549/DDP cells. The p53 and p66shc protein levels were detected by Western blotting assay. RESULTS: A549/DDP cells presented remarkably higher expression of lncRNA TRPM2-AS than paired A549 cells. Moreover, re-sensitization to cisplatin was seen in A549/DDP cells after lncRNA TRPM2-AS knockdown. On the contrary, the sensitivity of lncRNA TRPM2-AS-overexpressed A549 cells to cisplatin decreased obviously when compared with the control. Furthermore, downregulated lncRNA TRPM2-AS induced cell apoptosis and altered cell cycle distribution through activating the p53-p66shc pathway. CONCLUSIONS: We suggest that lncRNA TRPM2-AS participates in the resistance of NSCLC cells to cisplatin, which may provide a new therapeutic target of NSCLC.
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Antineoplásicos/farmacologia , Carcinoma Pulmonar de Células não Pequenas/genética , Cisplatino/farmacologia , Resistencia a Medicamentos Antineoplásicos/genética , Neoplasias Pulmonares/genética , RNA Longo não Codificante/genética , Proteína 1 de Transformação que Contém Domínio 2 de Homologia de Src/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Células A549 , Apoptose/efeitos dos fármacos , Carcinoma Pulmonar de Células não Pequenas/patologia , Ciclo Celular/efeitos dos fármacos , Regulação para Baixo , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Humanos , Neoplasias Pulmonares/patologia , Transdução de SinaisRESUMO
Horizontal transfer (HT), the exchange of genetic material between species, plays important roles in transposon biology and genome evolution. In this study, we provide the first documented example of a new Academ transposon involved in recent and distant HTs into the genomes of species belonging to seven different orders of insects: Lepidoptera, Hymenoptera, Neuroptera, Embioptera, Dermaptera, Trichoptera and Zoraptera. These results suggest that HT of DNA transposons amongst insects has occurred on a broader scale than previously appreciated. The Academ transposon discovered in the Lepidoptera and parasitic wasps is of particular interest because the intimate association between wasps and their lepidopteran hosts might provide an opportunity for HT of transposons.
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Elementos de DNA Transponíveis , Transferência Genética Horizontal , Insetos/genética , Animais , Interações Hospedeiro-Parasita , Insetos/parasitologiaRESUMO
An experimental observation of force interactions in scanning tunneling microscopy (STM) is presented. A technique for measuring force interactions between a conventional STM probe and a sample by spectra analysis of its thermal fluctuations from tunneling current in STM is developed theoretically and experimentally. Thermally excited fluctuation of the STM probe is exactly discerned in air and then force gradient is determined from its corresponding eigen-frequency with a formula similar to that for a small-amplitude atomic force microscopy (AFM). The observed force interactions are consistent with forces in dynamic AFM. Shear strength of 7 GPa for highly oriented pyrolytic graphite (HOPG) under compressive stress is obtained from the experiment and using the elastic theory. We believe that this technique is of scientific significance as it enables accurate measurement of short-range force interactions at atomic scale under true STM conditions.
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We experimentally report the elastic response of an assembly of SiO2 powders under a shear oscillation strain by a modified inverted torsion pendulum with a Couette-like setup. We find that the shear restoring force displayed by SiO2 assembly is of strong amplitude dependence, which is ascribed to the dynamic behavior of the stress network inside and could be used to classify the states of the SiO2 assembly, i.e., elastic solid, plastic solid, viscoelastic solid, and viscous fluid. The underlying mechanisms for different states of the SiO2 assembly are tentatively proposed.
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Relations between various values of the internal friction (tgdelta, Q(-1), Q(-1*), and Lambda/pi) measured by free decay and forced vibration are analyzed systemically based on a fundamental mechanical model in this paper. Additionally, relations between various natural frequencies, such as vibration frequency of free decay omega(FD), displacement-resonant frequency of forced vibration omega(d), and velocity-resonant frequency of forced vibration omega(0) are calculated. Moreover, measurement of natural frequencies of a copper specimen of 99.9% purity has been made to demonstrate the relation between the measured natural frequencies of the system by forced vibration and free decay. These results are of importance for not only more accurate measurement of the elastic modulus of materials but also the data conversion between different internal friction measurements.
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Fricção , Modelos Teóricos , Oscilometria/métodos , Vibração , Simulação por Computador , Elasticidade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estresse MecânicoRESUMO
The scaling descriptions of the deformation of the air-water interface due to van der Waals attractive forces induced by a paraboloid shaped solid as well as of the force vs distance behavior are systematically discussed theoretically and experimentally. It is demonstrated that the force-distance curves at the proximity of the solid to the air-water interface without contact satisfy a simple and universal scaling law, which can be useful to help study various systems involved in the deformable interface. Moreover, an analytical solution to the E-L differential equation governing the deformation of the water surface profile is obtained from the scaling relation, and the two length scales that quantitatively evaluate the lateral and longitudinal deformation of the air-water interface respectively are hence determined.
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Anaphylactic events occurring in cardiac tissues can result in cardiac dysfunction via vasoconstriction and arrhythmias. Calcitonin gene-related peptide (CGRP) is the most potent vasodilator and possesses anti-arrhythmic action. We examined the influence of CGRP on cardiac anaphylaxis in guinea-pigs. In the Langendorff-perfused heart of passively sensitized guinea-pigs, antigen challenge evoked a decrease in coronary flow, left ventricular pressure and its maximum first derivatives (+/-dP/dtmax) and an increased heart rate. Antigen challenge also induced atrioventricular conduction block. Treatment with CGRP (1 or 3 nM) significantly improved the recovery of cardiac function and reduced the incidence and duration of atrioventricular block without influencing the increased heart rate. Pretreatment with capsaicin caused effects similar to those of CGRP and markedly elevated the content of CGRP in coronary effluent. Ischaemic preconditioning, induced by two cycles each of 5 min global ischaemia and 5 min reperfusion, also improved cardiac function and raised the level of CGRP in coronary effluent. The protective effects of ischaemic preconditioning were abolished in the presence of the CGRP receptor antagonist CGRP8-37. Histamine release did not differ significantly during any of the interventions. The findings of the present study indicate that, in guinea-pig hearts, CGRP protects against cardiac anaphylaxis and that the cardioprotection by CGRP is independent of histamine release.
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Anafilaxia/prevenção & controle , Peptídeo Relacionado com Gene de Calcitonina/uso terapêutico , Coração/efeitos dos fármacos , Animais , Capsaicina/farmacologia , Cobaias , Frequência Cardíaca/efeitos dos fármacos , Liberação de Histamina/efeitos dos fármacos , Precondicionamento Isquêmico , MasculinoRESUMO
AIM: To test the protective effects of 17 beta-estradiol against endothelial cell damages due to oxidized low-density lipoproteins (LDL) and lysophosphatidylcholine (LPC), a principal component of oxidized LDL. METHODS: After the tension was increased by phenylephrine, the effects of oxidized LDL or LPC on the vasorelaxation responses to acetylcholine (ACh) were investigated in the isolated rabbit thoracic aortas. RESULTS: 17 beta-Estradiol attenuated the inhibition of vasorelaxation responses to ACh by oxidized LDL or LPC in a concentration-dependent manner. However, the protective effect of 17 beta-estradiol was partially attenuated by indometacin (10 mumol.L-1), a cyclooxygenase inhibitor. CONCLUSION: 17 beta-Estradiol possesses protective effects on the endothelium against injury elicited by oxidized LDL or LPC, which may be related to its stimulation of epoprostenol production.
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Endotélio Vascular/efeitos dos fármacos , Estradiol/farmacologia , Lipoproteínas HDL/antagonistas & inibidores , Lisofosfatidilcolinas/antagonistas & inibidores , Vasodilatação/efeitos dos fármacos , Animais , Aorta Torácica , Inibidores de Ciclo-Oxigenase/farmacologia , Relação Dose-Resposta a Droga , Técnicas In Vitro , Indometacina/farmacologia , Masculino , CoelhosRESUMO
AIM: To study the role of the endothelium in mediating the response of the coronary arteries to adrenoceptor agonists. METHODS: Endothelium intact and denuded dog epicardial coronary artery rings were used. The contractile responses were recorded on forcetransducer and a pen recorder. RESULTS: In all ring segments, norepinephrine (NE) and isoproterenol (Iso) produced concentration-dependent relaxation in the presence and absence of phentolamine. Endothelium-removal decreased this relaxation and depressed the maximal response. Inhibition of nitric oxide synthesis by N omega-nitro-L-arginine-methyl ester induced the same influences as endothelium-removal. CONCLUSION: beta-adrenoceptor agonists produce relaxation of dog coronary artery by both endothelium-dependent and independent mechanisms, endothelium-dependent relaxation induced by beta-adrenoceptor agonists is mediated by nitric oxide.