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1.
Opt Express ; 32(6): 8638-8656, 2024 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-38571118

RESUMEN

The laser-induced damage of ultraviolet fused silica optics is a critical factor that limits the performance enhancement of high-power laser facility. Currently, wet etching technology based on hydrofluoric acid (HF) can effectively eliminate absorbing impurities and subsurface defects, thereby significantly enhancing the damage resistance of fused silica optics. However, with an increase in the operating fluence, the redeposition defects generated during wet etching gradually become the primary bottleneck that restricts its performance improvement. The composition and morphology of redeposition defects were initially identified in this study, followed by an elucidation of their formation mechanism. A mitigation strategy was then proposed, which combines a reduction in the generation of precipitation with an acceleration of the precipitation dissolution process. Additionally, we systematically investigated the influence of various process parameters such as extrinsic impurity, etching depth, and megasonic excitation on the mitigation of deposition defects. Furthermore, a novel multiple-step dynamic etching method was developed. Through comprehensive characterization techniques, it has been confirmed that this new etching process not only effectively mitigate redeposition defects under low fluence conditions but also exhibits significant inhibition effects on high fluence precursors. Consequently, it significantly enhances the laser damage resistance performance of fused silica optics.

2.
Exp Eye Res ; 240: 109796, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38244883

RESUMEN

To investigate the metabolic difference among tissue layers of the rabbits' eye during the development of myopia using metabolomic techniques and explore any metabolic links or cascades within the ocular wall. Ultra Performance Liquid Chromatography - Mass Spectrometry (UPLC-MS) was utilized for untargeted metabolite screening (UMS) to identify the significant differential metabolites produced between myopia (MY) and control (CT) (horizontal). Subsequently, we compared those key metabolites among tissues (Sclera, Choroid, Retina) of MY for distribution and variation (longitudinal). A total of 6285 metabolites were detected in the three tissues. The differential metabolites were screened and the metabolic pathways of these metabolites in each myopic tissue were labeled, including tryptophan and its metabolites, pyruvate, taurine, caffeine metabolites, as well as neurotransmitters like glutamate and dopamine. Our study suggests that multiple metabolic pathways or different metabolites under the same pathway, might act on different parts of the eyeball and contribute to the occurrence and development of myopia by affecting the energy supply to the ocular tissues, preventing antioxidant stress, affecting scleral collagen synthesis, and regulating various neurotransmitters mutually.


Asunto(s)
Miopía , Espectrometría de Masas en Tándem , Animales , Conejos , Cromatografía Liquida , Modelos Animales de Enfermedad , Miopía/metabolismo , Retina/metabolismo , Esclerótica/metabolismo , Neurotransmisores/metabolismo
3.
BMC Ophthalmol ; 24(1): 40, 2024 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-38273262

RESUMEN

BACKGROUND: This study aimed to compare the corneal high-order aberrations and surgically induced astigmatism between the clear corneal incision and limbus tunnel incision for posterior chamber implantable collamer lens (ICL/TICL) implantation. METHODS: A total of 127 eyes from 73 myopic patients underwent ICL V4c implantation, with 70 eyes receiving clear corneal incisions and 57 eyes receiving limbus tunnel incisions. The anterior and back corneal surfaces were measured and the Root Mean Square of all activated aberrations (TRMS) was calculated, including higher-order aberration (HOA RMS), spherical aberration Z40, coma coefficients (Coma RMS) Z3-1 Z31, and surgically induced astigmatism (SIA). The measurements were taken preoperatively and postoperatively at 1 day, 1 week, and 1, 3, and 6 months. In this study, the corneal higher-order aberration was estimated as the Zernike coefficient calculated up to 5th order. The measurements were taken at a maximum diameter of 6.5 mm using Pentacam. RESULTS: One week after the operation, the corneal back Z31 of the clear corneal incision group was 0.06 ± 0.06, while the limbus tunnel incision group showed a measurement of 0.05 ± 0.06 (p = 0.031). The corneal back Z40 of the clear corneal incision group was -0.02 ± 0.25, compared to -0.04 ± 0.21 in the limbus tunnel incision group (p = 0.01). One month after the operation, the corneal back SIA of the clear corneal incision group was 0.11 ± 0.11, compared to 0.08 ± 0.11of the limbus tunnel incision group (p = 0.013), the corneal total SIA of the clear corneal incision group was 0.33 ± 0.30, compared to 0.15 ± 0.16 in the limbus tunnel incision group (p = 0.004); the clear corneal incision group exhibited higher levels of back astigmatism and total SIA than the limbus tunnel incision in the post-operation one month period. During the 6- month post-operative follow-up period, no significant difference in Z31, Z40, and other HOA RMS data was observed between the two groups. The total SIA of the corneal incision group and the limbus tunnel incision group were 0.24 ± 0.14 and 0.33 ± 0.32, respectively (p = 0.393), showing no significant difference between the two groups 6 months after the operation. CONCLUSION: Our data showed no significant difference in the high-order aberration and SIA between clear corneal incision and limbus tunnel incision up to 6 months after ICL-V4c implantation.


Asunto(s)
Astigmatismo , Humanos , Astigmatismo/etiología , Astigmatismo/cirugía , Implantación de Lentes Intraoculares , Coma/cirugía , Córnea/cirugía , Seudofaquia/cirugía
4.
Transfus Med Hemother ; 51(5): 345-350, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39371254

RESUMEN

Introduction: This study aimed to investigate the allele frequencies of the human platelet antigens (HPA) HPA-1-29w system in Jiangsu (China) and establish the platelet apheresis registry in blood donors. Methods: HPA genotyping was performed using the MassARRAY iPLEX® platform. Allele and genotype frequencies were estimated by direct counting and tested for Hardy-Weinberg equilibrium. The transfusion mismatch probability was calculated for every HPA specificity. Results: The HPA allele frequencies in the Jiangsu Han population of HPA-1b, -2b, -3b, -4b, -5b, -6b, -11b, -15b, and -21b were 0.0055, 0.0530, 0.4116, 0.0015, 0.0155, 0.0162, 0.0003, 0.4683, and 0.0070, respectively, in which a heterozygote of HPA-11a/b was first detected in China. Only allele a was detected for HPA-7-10w,-12-14w,-16-20w, and -22-29w quasi-systems. The highest mismatch rate of HPA genes in 1,640 platelet donors was the HPA-15 system, followed by the HPA-3 system with a rate of 37.4% and 36.71%, respectively. Conclusion: China's largest-scale platelet registry of HPA-1-29w has been explored. The MassARRAY platform may help found the platelet apheresis registry which would be useful to provide matching platelets and lead to a more accurate, effective, and safe transfusion for patients with platelet therapy.

5.
BMC Pediatr ; 23(1): 585, 2023 11 22.
Artículo en Inglés | MEDLINE | ID: mdl-37990192

RESUMEN

PURPOSE: The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH). METHODS: This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others. RESULTS: There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p < 0.05), EDV (3.5 ml versus 6.8 ml, p < 0.05)] and with worse systolic function [SV (2.3 ml versus 4.2 ml, p < 0.05), and CI (1.7 L/min/m2 versus 2.9 L/min/m2, p < 0.01)]. CONCLUSION: In the cohort of omphalocele patients with PH, lower LVIDd, EDV, SV and CI were associated with mortality. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Hernia Umbilical , Hipertensión Pulmonar , Recién Nacido , Humanos , Ventrículos Cardíacos/diagnóstico por imagen , Hernia Umbilical/diagnóstico por imagen , Estudios Retrospectivos , Diástole , Ecocardiografía , Hipertensión Pulmonar/diagnóstico por imagen
6.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(10): 1001-1007, 2023 Oct 15.
Artículo en Zh | MEDLINE | ID: mdl-37905755

RESUMEN

OBJECTIVES: To investigate the risk factors and prognosis of hypotension within 72 hours after birth in extremely preterm infants. METHODS: A retrospective analysis was conducted on clinical data of extremely preterm infants admitted to the Children's Hospital of Zhejiang University School of Medicine from January 2019 to April 2022. Based on the presence of hypotension within 72 hours after birth, the eligible infants were divided into a hypotension group (41 cases) and a normotension group (82 cases). The clinical characteristics, echocardiographic parameters within 72 hours after birth, and early complications were compared between the two groups. Multivariate logistic regression analysis was used to explore the risk factors for hypotension within 72 hours after birth, and receiver operating characteristic curve analysis was performed to evaluate the predictive value of relevant indicators for the occurrence of hypotension within 72 hours after birth in the preterm infants. RESULTS: The proportion of infants who required medication or surgical closure of patent ductus arteriosus (PDA), the proportions of infants with intraventricular hemorrhage ≥ grade III and severe pulmonary hemorrhage, and the mortality rate within 7 days in the hypotension group were significantly higher than those in the normotension group (P<0.05). Multivariate logistic regression analysis showed that lower birth weight, larger PDA diameter, and hemodynamically significant PDA were risk factors for the occurrence of hypotension within 72 hours after birth in extremely preterm infants (P<0.05). The receiver operating characteristic curve analysis showed that the combination of birth weight, PDA diameter, and hemodynamically significant PDA had an area under the curve of 0.873 (95%CI: 0.802-0.944, P<0.05) for predicting hypotension within 72 hours after birth, with a sensitivity of 73.2% and specificity of 91.5%. CONCLUSIONS: Hypotension within 72 hours after birth is closely related to birth weight and PDA, and increases the risk of early severe complications and mortality in extremely preterm infants.


Asunto(s)
Conducto Arterioso Permeable , Hipotensión , Niño , Recién Nacido , Humanos , Recien Nacido Extremadamente Prematuro , Peso al Nacer , Estudios Retrospectivos , Conducto Arterioso Permeable/cirugía , Hemorragia Cerebral , Pronóstico , Hipotensión/etiología , Factores de Riesgo
7.
BMC Pediatr ; 22(1): 142, 2022 03 17.
Artículo en Inglés | MEDLINE | ID: mdl-35300644

RESUMEN

BACKGROUND: Noonan syndrome (NS) is a relatively rare inherited disease. Typical clinical presentation is important for the diagnosis of NS. But the initial presentation of NS could be significant variant individually which results in the difficult of working diagnosis. Here we report a rare neonatal case of NS who presented with refractory thrombocytopenia as the initial manifestation. CASE PRESENTATION: This was a preterm infant with refractory thrombocytopenia of unknown origin transferred from obstetric hospital at 6 weeks of age. During hospitalization, typical phenotypes of NS in addition to thrombocytopenia were observed, such as typical facial characteristics, short stature, atrial septal defect, cryptochidism, coagulation defect and chylothorax. Genetic testing showed a pathogenic variant at exon 2 of the PTPN11 gene with c.124A > G (p.T42A). Respiratory distress was deteriorated with progressive chylothorax. Chest tube was inserted for continuous draining. Chemical pleurodesis with erythromycin was tried twice, but barely effective. Finally, parents decided to withdraw medical care and the patient died. CONCLUSIONS: Thrombocytopenia could be the first symptom of Noonan syndrome. After ruling out other common causes of thrombocytopenia, NS should be considered as the working diagnosis.


Asunto(s)
Quilotórax , Leucopenia , Síndrome de Noonan , Trombocitopenia , Quilotórax/diagnóstico , Quilotórax/etiología , Quilotórax/terapia , Femenino , Pruebas Genéticas , Humanos , Recién Nacido , Recien Nacido Prematuro , Síndrome de Noonan/complicaciones , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Fenotipo , Embarazo , Trombocitopenia/etiología , Trombocitopenia/genética
8.
Pediatr Cardiol ; 43(2): 373-381, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34510236

RESUMEN

To construct a model with the indices obtained by echocardiography to predict whether patent ductus arteriosus (PDA) was required to be treated with pharmacologic treatment or surgical ligation, we performed a prospective observational study, including all neonates with gestational age ≤ 30 weeks and assessed the hemodynamics of PDA by serial daily echocardiography examination at postnatal age of 0-12 h, 24 h, 48 h, and 72 h, respectively. The infants were classified in two groups based on whether they were treated with non-steroidal anti-inflammatory drugs (NSAIDs) and/or surgical ligation to close the PDA from the second week after birth. We compared the echocardiographic indices between the two groups and utilized the indices to construct a model to predict which premature infants' PDA requires intervention. The results showed that a total of forty-two preterm infants were enrolled in the study. 15 (35.7%) preterms were in the intervention group and 27 (64.3%) preterms were in the non-intervention group. Compared with the non-intervention group, the intervention group had a higher proportion of left ventricular volume overload and systemic shunt effect. In addition, the combined indicators of PDA size/weight > 3.2 mm/kg and LA/Ao > 1.4 at postnatal age of 72 h had a highest value to predict whether PDA requires intervention. These findings denoted that serial daily echocardiographic assessment can be useful in predicting whether a PDA will be closed with NSAIDs and/or surgical ligation in preterm infants with gestational age ≤ 30 weeks.Trial registration Number: IRB No. 2018-IRB-073. Date: 2018/09/21, retrospectively registered.


Asunto(s)
Conducto Arterioso Permeable , Conducto Arterial , Antiinflamatorios no Esteroideos/uso terapéutico , Conducto Arterioso Permeable/diagnóstico por imagen , Conducto Arterioso Permeable/tratamiento farmacológico , Conducto Arterioso Permeable/cirugía , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(5): 500-506, 2022 May 15.
Artículo en Zh | MEDLINE | ID: mdl-35644189

RESUMEN

OBJECTIVES: To study the effect of timing of surgical ligation of patent ductus arteriosus (PDA) on the prognosis of very low birth weight infants (VLBWI). METHODS: The medical data of VLBWI who underwent transthoracic ligation for PDA from June 2018 to May 2021 were reviewed retrospectively. The infants were divided into early ligation group (≤21 days of age) and late ligation group (>21 days of age) based on the age of ligation. The two groups were compared in terms of perioperative clinical features, complications, and mortality. The risk factors for early surgical ligation were analyzed. RESULTS: A total of 72 VLBWI were enrolled, with 19 infants (26%) in the early ligation group and 53 infants (74%) in the late ligation group. There were significant differences in birth weight, gestational age, weight at operation, days of age at operation, rates of preoperative invasive and noninvasive mechanical ventilation, incidence rate of pulmonary hemorrhage, incidence rate of hypotension, preoperative PDA internal diameter (mm/kg), intraoperative PDA external diameter (mm/kg), incidence rate of post-ligation cardiac syndrome, and duration of postoperative invasive mechanical ventilation between the two groups (P<0.05). A binary logistic regression analysis showed that pulmonary hemorrhage was an indication of early surgical ligation of PDA (P<0.05). There were no significant differences in the incidence rates of post-operative complications and the mortality rate between the early ligation and late ligation groups. CONCLUSIONS: Early surgical ligation may be performed for VLBWI who are experiencing pulmonary hemorrhage and hemodynamically significant PDA confirmed by cardiac ultrasound after birth. However, post-ligation cardiac syndrome should attract enough attention. In addition, early surgical ligation of PDA does not increase the risk of surgery-related and long-term complications or death, indicating that it is a safe and feasible treatment option.


Asunto(s)
Conducto Arterioso Permeable , Conducto Arterioso Permeable/cirugía , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Ligadura , Estudios Retrospectivos
10.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(1): 26-32, 2022 Jan 15.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-35177172

RESUMEN

OBJECTIVES: To study the value of bedside echocardiography in predicting persistent patency of the ductus arteriosus during the early postnatal period in very low birth weight (VLBW) infants. METHODS: A retrospective analysis was performed for 51 VLBW infants who were admitted from March 2020 to June 2021, with an age of ≤3 days and a length of hospital stay of ≥14 days. According to the diameter of patent ductus arteriosus (PDA) on days 14 and 28 after birth, the infants were divided into three groups: large PDA group (PDA diameter ≥2 mm), small PDA group (PDA diameter <2 mm), and PDA closure group (PDA diameter =0 mm). The echocardiographic parameters measured at 72 hours after birth were compared among the three groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the echocardiographic parameters in predicting persistent patency of the ductus arteriosus (PDA≥2 mm) at the ages of 14 and 28 days. RESULTS: On day 14 after birth, there were 17 infants in the large PDA group, 11 in the small PDA group, and 23 in the PDA closure group. On day 28 after birth, there were 14 infants in the large PDA group, 9 in the small PDA group, and 26 in the PDA closure group. There were significant differences in gestational age, birth weight, rate of pulmonary surfactant use, and incidence rate of hypotension among the three groups (P<0.05). PDA diameter, end-diastolic velocity of the left pulmonary artery, left ventricular output, and left ventricular output/superior vena cava flow ratio measured at 72 hours after birth were associated with persistent patency of the ductus arteriosus at the ages of 14 and 28 days (P<0.05), and the ratio of the left atrium to aorta diameter was associated with persistent patency of the ductus arteriosus at the age of 28 days (P<0.05). The ROC curve analysis showed that the area under the curve that the PDA diameter measured at 72 hours after birth predicting the persistent patency of the ductus arteriosus at the ages of 14 and 28 days was the largest (0.841 and 0.927 respectively), followed by end-diastolic velocity of the left pulmonary artery, with the area under the curve of 0.793 and 0.833 respectively. CONCLUSIONS: The indicators obtained by beside echocardiography at 72 hours after birth, especially PDA diameter and end-diastolic velocity of the left pulmonary artery, can predict persistent patency of the ductus arteriosus at the ages of 14 and 28 days in VLBW infants, which provides a basis for the implementation of early targeted treatment strategy for PDA.


Asunto(s)
Conducto Arterioso Permeable , Conducto Arterioso Permeable/diagnóstico por imagen , Ecocardiografía , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Estudios Retrospectivos , Vena Cava Superior
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(1): 23-26, 2021 Jan 10.
Artículo en Zh | MEDLINE | ID: mdl-33423252

RESUMEN

OBJECTIVE: To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup. METHODS: The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis. RESULTS: Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes. CONCLUSION: The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Alelos , Sistema del Grupo Sanguíneo ABO/genética , Femenino , Genotipo , Humanos , Masculino , Linaje , Fenotipo
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(12): 1349-1351, 2020 Dec 10.
Artículo en Zh | MEDLINE | ID: mdl-33306819

RESUMEN

OBJECTIVE: To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China. METHODS: DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen. RESULTS: Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2. CONCLUSION: The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.


Asunto(s)
Antígenos de Grupos Sanguíneos , Proteínas de la Membrana , Alelos , Antígenos de Grupos Sanguíneos/genética , China , Frecuencia de los Genes , Variación Genética/genética , Genotipo , Humanos , Proteínas de la Membrana/genética , Polimorfismo de Nucleótido Simple/genética
13.
Opt Express ; 27(8): 10705-10728, 2019 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-31052925

RESUMEN

In a large-scale, high-power laser facility, fused silica optics plays an irreplaceable role to transmit extremely intense lasers. However, the surface fractures, such as surface pit, crack, and scratch and laser damage site, of fused silica optics will shorten the lifetime of the optics and thus limit the output performance of the laser facility. In this work, besides experimental study, finite difference time domain (FDTD) simulation is performed to study hydrofluoric acid-based (HF-based) etching effect on the surface fractures. The effect of local surface curvature on etching rate is discussed and an explicit local-curvature-dependent etching model is proposed. Based on this model, the result from FDTD simulation qualitatively agrees very well with that of the experiment. It is demonstrated that the FDTD simulation is efficient to predict the morphological evolution of the surface fractures during etching. In addition, it is found that the surface fractures will be passivated and HF-based etching can greatly suppress the laser-damage growth of laser-induced damage to the surface site of fused silica optics.

15.
Opt Lett ; 42(6): 1093-1096, 2017 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-28295101

RESUMEN

A simple and convenient means of fabricating concave microlens arrays direct on silica glass by using the local fictive temperature modification of fused silica is presented. This method is based on the fact that an increased fictive temperature results in a much higher HF acid etching rate of fused silica. Combining the abrupt local fictive temperature enhancement by the CO2 laser pulse and the subsequent etching by the HF acid solution, concave microlens arrays with high fill factors, excellent smoothness, and optical performance are generated on fused silica.

17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(6): 888-890, 2017 Dec 10.
Artículo en Zh | MEDLINE | ID: mdl-29188623

RESUMEN

OBJECTIVE: To analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members. METHODS: Based on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis. RESULTS: PCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c.64_80del allele. Pedigree investigation showed that his father had the same mutation, while his mother and elder sister were of wide type. No individual with homozygous c.64_80del allele was found. CONCLUSION: PCR-SSP and DNA sequencing confirmed that the proband was heterozygous for the c.64_80del mutation. The mutation inherits form his father.


Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Eliminación de Gen , Proteínas de la Membrana/genética , Adulto , Femenino , Pruebas Genéticas , Homocigoto , Humanos , Masculino , Linaje , Análisis de Secuencia de ADN
18.
J Virol ; 89(15): 7636-45, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25972545

RESUMEN

UNLABELLED: Respiratory syncytial virus (RSV) is the leading cause of acute respiratory tract viral infection in infants, causing bronchiolitis and pneumonia. The host antiviral response to RSV acts via retinoic acid-inducible gene I (RIG-I). We show here that RSV infection upregulates major histocompatibility complex class I (MHC-I) expression through the induction of NLRC5, a NOD-like, CARD domain-containing intracellular protein that has recently been identified as a class I MHC transactivator (CITA). RSV infection of A549 cells promotes upregulation of NLRC5 via beta interferon (IFN-ß) production, since the NLRC5-inducing activity in a conditioned medium from RSV-infected A549 cells was removed by antibody to IFN-ß, but not by antibody to IFN-γ. RSV infection resulted in RIG-I upregulation and induction of NLRC5 and MHC-I. Suppression of RIG-I induction significantly blocked NLRC5, as well as MHC-I, upregulation and diminished IRF3 activation. Importantly, Vero cells deficient in interferon production still upregulated MHC-I following introduction of the RSV genome by infection or transfection, further supporting a key role for RIG-I. A model is therefore proposed in which the host upregulates MHC-I expression during RSV infection directly via the induction of RIG-I and NLRC5 expression. Since elevated expression of MHC-I molecules can sensitize host cells to T lymphocyte-mediated cytotoxicity or immunopathologic damage, the results have significant implications for the modification of immunity in RSV disease. IMPORTANCE: Human respiratory syncytial virus (RSV) is the leading cause of bronchiolitis and pneumonia in infants and young children worldwide. Infection early in life is linked to persistent wheezing and allergic asthma in later life, possibly related to upregulation of major histocompatibility class I (MHC-I) on the cell surface, which facilitates cytotoxic T cell activation and antiviral immunity. Here, we show that RSV infection of lung epithelial cells induces expression of RIG-I, resulting in induction of a class I MHC transactivator, NLRC5, and subsequent upregulation of MHC-I. Suppression of RIG-I induction blocked RSV-induced NLRC5 expression and MHC-I upregulation. Increased MHC-I expression may exacerbate the RSV disease condition due to immunopathologic damage, linking the innate immune response to RSV disease.


Asunto(s)
ARN Helicasas DEAD-box/genética , Células Epiteliales/metabolismo , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Infecciones por Virus Sincitial Respiratorio/genética , Virus Sincitial Respiratorio Humano/fisiología , Animales , Chlorocebus aethiops , Proteína 58 DEAD Box , ARN Helicasas DEAD-box/metabolismo , Células Epiteliales/virología , Antígenos HLA-A/metabolismo , Antígenos HLA-B/metabolismo , Antígenos HLA-C/metabolismo , Humanos , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Pulmón/citología , Pulmón/metabolismo , Pulmón/virología , Receptores Inmunológicos , Infecciones por Virus Sincitial Respiratorio/metabolismo , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitial Respiratorio Humano/genética , Regulación hacia Arriba , Células Vero
20.
Soft Matter ; 11(34): 6893-902, 2015 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-26235530

RESUMEN

In this work we reported a novel graphite doped conductive magnetorheological plastomer (GMRP) with magnetic field dependent electro-conductivity. The conductivity of the GMRPs increased by increasing the content of the graphite particles, while it decreased with the graphite size. When the graphite content reached 15 wt%, the conductivity of GMRPs is approximately 10 000 times higher than the non-doped MRP. Because the iron particles in the GMRPs were magnetic, the conductivity of the GMRPs was magnetically sensitive. Upon applying a 780 mT magnetic field, the electric conductivity could increase about 1000 times larger than the one under zero magnetic field. A particle-particle resistance model was developed to investigate the influence of the magnetic field and graphite doping on the conductivity, and the fitting curve matched the experimental results very well. Finally, a magnetically controllable on-off switch based on GMRPs was proposed and its working mechanism was discussed.

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