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1.
Clin Lab ; 69(1)2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36649524

RESUMO

BACKGROUND: Nephrin is a protein in the glomerular podocyte slit diaphragm; therefore, its presence in urine implies damage to podocytes. This study aimed to determine the usefulness of nephrin as a biomarker in maternal urine to predict preeclampsia (PE). METHODS: This prospective study included pregnant women admitted for delivery at Seoul National University Bundang Hospital from March 2019 to May 2020. Patients who had been diagnosed with PE were included, and patients without a history of underlying diseases were recruited for the control group. Pertinent clinical data were collected. Urine samples were obtained, and nephrin signaling was detected through test strips using a lateral flow assay. The point-of-care test results were compared between patients with PE and without (control group), using the exact concentration of nephrin by enzyme-linked immunosorbent assay. RESULTS: Clinical characteristics - maternal age, parity, proportion of twin pregnancies, height, weight, and cesarean delivery rate - were comparable between the PE and control groups. Nephrin signals were classified into four groups. In the PE group, signals 0, 1, 2, and 3 were found in 18.4% (9/49), 44.9% (22/49), 24.5% (12/49), and 12.2% (6/49) of participants, respectively. Results were significantly different in the control group, in which 84.3% (43/51) were found to have signal 0 (p < 0.001). CONCLUSIONS: Nephrin signaling in maternal urine could be a noninvasive and useful test for early detection of severity of PE.


Assuntos
Podócitos , Pré-Eclâmpsia , Humanos , Gravidez , Feminino , Pré-Eclâmpsia/diagnóstico , Estudos Prospectivos , Proteínas de Membrana/metabolismo , Podócitos/metabolismo
2.
Nano Lett ; 18(3): 1699-1706, 2018 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-29356548

RESUMO

Explosives, propellants, and pyrotechnics are energetic materials that can store and quickly release tremendous amounts of chemical energy. Aluminum (Al) is a particularly important fuel in many applications because of its high energy density, which can be released in a highly exothermic oxidation process. The diffusive oxidation mechanism (DOM) and melt-dispersion mechanism (MDM) explain the ways powders of Al nanoparticles (NPs) can burn, but little is known about the possible use of plasmonic resonances in NPs to manipulate photoignition. This is complicated by the inhomogeneous nature of powders and very fast heating and burning rates. Here, we generate Al NPs with well-defined sizes, shapes, and spacings by electron beam lithography and demonstrate that their plasmonic resonances can be exploited to heat and ignite them with a laser. By combining simulations with thermal-emission, electron-, and optical-microscopy studies, we reveal how an improved control over NP ignition can be attained.

3.
Nano Lett ; 17(1): 407-413, 2017 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-27936784

RESUMO

Optical metasurfaces are two-dimensional optical elements composed of dense arrays of subwavelength optical antennas and afford on-demand manipulation of the basic properties of light waves. Following the pioneering works on active metasurfaces capable of modulating wave amplitude, there is now a growing interest to dynamically control other fundamental properties of light. Here, we present metasurfaces that facilitate electrical tuning of the reflection phase and polarization properties. To realize these devices, we leverage the properties of actively controlled plasmonic antennas and fundamental insights provided by coupled mode theory. Indium-tin-oxide is embedded into gap-plasmon resonator-antennas as it offers electrically tunable optical properties. By judiciously controlling the resonant properties of the antennas from under- to overcoupling regimes, we experimentally demonstrate tuning of the reflection phase over 180°. This work opens up new design strategies for active metasurfaces for displacement measurements and tunable waveplates.

4.
Nano Lett ; 17(3): 1892-1898, 2017 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-28165745

RESUMO

Unique features of graphene have motivated the development of graphene-integrated photonic devices. In particular, the electrical tunability of graphene loss enables high-speed modulation of light and tuning of cavity resonances in graphene-integrated waveguides and cavities. However, efficient control of light emission such as lasing, using graphene, remains a challenge. In this work, we demonstrate on/off switching of single- and double-cavity photonic crystal lasers by electrical gating of a monolayer graphene sheet on top of photonic crystal cavities. The optical loss of graphene was controlled by varying the gate voltage Vg, with the ion gel atop the graphene sheet. First, the fundamental properties of graphene were investigated through the transmittance measurement and numerical simulations. Next, optically pumped lasing was demonstrated for a graphene-integrated single photonic crystal cavity at Vg below -0.6 V, exhibiting a low lasing threshold of ∼480 µW, whereas lasing was not observed at Vg above -0.6 V owing to the intrinsic optical loss of graphene. Changing quality factor of the graphene-integrated photonic crystal cavity enables or disables the lasing operation. Moreover, in the double-cavity photonic crystal lasers with graphene, switching of individual cavities with separate graphene sheets was achieved, and these two lasing actions were controlled independently despite the close distance of ∼2.2 µm between adjacent cavities. We believe that our simple and practical approach for switching in graphene-integrated active photonic devices will pave the way toward designing high-contrast and ultracompact photonic integrated circuits.

5.
Mediators Inflamm ; 2017: 8123281, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28804222

RESUMO

Epithelial-mesenchymal transition (EMT) is a biological process that allows epithelial cells to assume a mesenchymal cell phenotype. EMT is considered as a therapeutic target for several persistent inflammatory airway diseases related to tissue remodeling. Herein, we investigated the role of endoplasmic reticulum (ER) stress and c-Src in TGF-ß1-induced EMT. A549 cells, primary nasal epithelial cells (PNECs), and inferior nasal turbinate organ cultures were exposed to 4-phenylbutylic acid (4PBA) or PP2 and then stimulated with TGF-ß1. We found that E-cadherin, vimentin, fibronectin, and α-SMA expression was increased in nasal polyps compared to inferior turbinates. TGF-ß1 increased the expression of EMT markers such as E-cadherin, fibronectin, vimentin, and α-SMA and ER stress markers (XBP-1s and GRP78), an effect that was blocked by PBA or PP2 treatment. 4-PBA and PP2 also blocked the effect of TGF-ß1 on migration of A549 cells and suppressed TGF-ß1-induced expression of EMT markers in PNECs and organ cultures of inferior turbinate. In conclusion, we demonstrated that 4PBA inhibits TGF-ß1-induced EMT via the c-Src pathway in A549 cells, PNECs, and inferior turbinate organ cultures. These results suggest an important role for ER stress and a diverse role for TGF-ß1 in upper airway chronic inflammatory disease such as CRS.


Assuntos
Estresse do Retículo Endoplasmático/efeitos dos fármacos , Transição Epitelial-Mesenquimal/efeitos dos fármacos , Genes src/fisiologia , Fator de Crescimento Transformador beta1/farmacologia , Células A549 , Movimento Celular/efeitos dos fármacos , Chaperona BiP do Retículo Endoplasmático , Genes src/genética , Humanos , Pólipos Nasais/metabolismo , Técnicas de Cultura de Órgãos , Transdução de Sinais/efeitos dos fármacos
6.
Int Arch Allergy Immunol ; 171(3-4): 209-216, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28049186

RESUMO

BACKGROUND: Diesel exhaust particles (DEPs), the major contributors to air pollution, induce inflammatory responses in the nasal epithelium. Overproduction of airway mucins is an important pathogenic finding in inflammatory airway diseases. OBJECTIVE: The aims of the present study were to determine the effect of DEPs on the expression of the mucin gene MUC4 and to investigate the underlying mechanism of DEP-induced MUC4 expression in NCI-H292 cells and primary nasal epithelial cells (PNECs). METHODS: NCI-H292 cells were stimulated for 24 h with DEPs. Messenger RNA (mRNA) and protein expression of MUC4 was determined by real-time reverse transcription (RT) polymerase chain reaction (PCR) and Western blotting. NCI-H292 cells were exposed to 3 mitogen-activated protein kinase inhibitors (U0126, SB203580, and SP600125) and a CREB (cAMP response element-binding protein) inhibitor prior to stimulation with DEPs, and MUC4 expression was examined by RT-PCR and Western blotting. PNECs were pretreated with a p38 inhibitor and CREB inhibitor prior to stimulation with DEPs, and MUC4 expression was then determined by RT-PCR and/or Western blotting. RESULTS: DEPs significantly increased the expression of MUC4 mRNA and protein. MUC4 mRNA and protein expression was inhibited by pretreatment with p38 and CREB inhibitors in NCI-H292 stimulated with DEPs. p38 and CREB inhibitors also blocked the expression of MUC4 mRNA and protein in DEP-stimulated PNECs. CONCLUSIONS: We demonstrated that DEPs stimulated the expression of MUC4 via the p38/CREB pathway in NCI-H292 cells and PNECs. The results of the present study pave the way for further studies on the role of MUC4 in DEP-induced hypersecretion in airway epithelium.


Assuntos
Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo , Mucina-4/genética , Mucosa Nasal/metabolismo , Material Particulado/efeitos adversos , Transdução de Sinais , Emissões de Veículos , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo , Linhagem Celular , Células Epiteliais , Expressão Gênica , Humanos , Mucina-4/metabolismo , Emissões de Veículos/toxicidade
7.
Nano Lett ; 15(3): 1759-65, 2015 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-25668601

RESUMO

We explore the shape-dependent light scattering properties of silicon (Si) nanoblocks and their physical origin. These high-refractive-index nanostructures are easily fabricated using planar fabrication technologies and support strong, leaky-mode resonances that enable light manipulation beyond the optical diffraction limit. Dark-field microscopy and a numerical modal analysis show that the nanoblocks can be viewed as truncated Si waveguides, and the waveguide dispersion strongly controls the resonant properties. This explains why the lowest-order transverse magnetic (TM01) mode resonance can be widely tuned over the entire visible wavelength range depending on the nanoblock length, whereas the wavelength-scale TM11 mode resonance does not change greatly. For sufficiently short lengths, the TM01 and TM11 modes can be made to spectrally overlap, and a substantial scattering efficiency, which is defined as the ratio of the scattering cross section to the physical cross section of the nanoblock, of ∼9.95, approaching the theoretical lowest-order single-channel scattering limit, is achievable. Control over the subwavelength-scale leaky-mode resonance allows Si nanoblocks to generate vivid structural color, manipulate forward and backward scattering, and act as excellent photonic artificial atoms for metasurfaces.

8.
Nano Lett ; 15(3): 1570-6, 2015 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-25671369

RESUMO

We demonstrate electrical control over coherent optical absorption in a graphene-based Salisbury screen consisting of a single layer of graphene placed in close proximity to a gold back reflector. The screen was designed to enhance light absorption at a target wavelength of 3.2 µm by using a 600 nm-thick, nonabsorbing silica spacer layer. An ionic gel layer placed on top of the screen was used to electrically gate the charge density in the graphene layer. Spectroscopic reflectance measurements were performed in situ as a function of gate bias. The changes in the reflectance spectra were analyzed using a Fresnel based transfer matrix model in which graphene was treated as an infinitesimally thin sheet with a conductivity given by the Kubo formula. The analysis reveals that a careful choice of the ionic gel layer thickness can lead to optical absorption enhancements of up to 5.5 times for the Salisbury screen compared to a suspended sheet of graphene. In addition to these absorption enhancements, we demonstrate very large electrically induced changes in the optical absorption of graphene of ∼3.3% per volt, the highest attained so far in a device that features an atomically thick active layer. This is attributable in part to the more effective gating achieved with the ion gel over the conventional dielectric back gates and partially by achieving a desirable coherent absorption effect linked to the presence of the thin ion gel that boosts the absorption by 40%.

9.
Opt Express ; 23(13): 16740-9, 2015 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-26191686

RESUMO

Strain engineering has proven to be vital for germanium-based photonics, in particular light emission. However, applying a large permanent biaxial tensile strain to germanium has been a challenge. We present a simple, CMOS-compatible technique to conveniently induce a large, spatially homogenous strain in circular structures patterned within germanium nanomembranes. Our technique works by concentrating and amplifying a pre-existing small strain into a circular region. Biaxial tensile strains as large as 1.11% are observed by Raman spectroscopy and are further confirmed by photoluminescence measurements, which show enhanced and redshifted light emission from the strained germanium. Our technique allows the amount of biaxial strain to be customized lithographically, allowing the bandgaps of different germanium structures to be independently customized in a single mask process.

10.
Nano Lett ; 14(3): 1446-52, 2014 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-24524658

RESUMO

The implementation of solar fuel generation as a clean, terawatt-scale energy source is critically dependent on the development of high-performance, inexpensive photocatalysts. Many candidate materials, including for example α-Fe2O3 (hematite), suffer from very poor charge transport with minority carrier diffusion lengths that are significantly shorter (nanometer scale) than the absorption depth of light (micrometer scale near the band edge). As a result, most of the photoexcited carriers recombine rather than participate in water-splitting reactions. For this reason, there is a tremendous opportunity for photon management. Plasmon-resonant nanostructures have been employed to effectively enhance light absorption in the near-surface region of photocatalysts, but this approach suffers from intrinsic optical losses in the metal. Here, we circumvent this issue by driving optical resonances in the active photocatalyst material itself. We illustrate that judiciously nanopatterned photocatalysts support optical Mie and guided resonances capable of substantially enhancing the photocarrier generation rate within 10-20 nm from the water/photocatalyst interface.


Assuntos
Compostos Férricos/química , Luz , Nanoestruturas/química , Processos Fotoquímicos , Energia Solar , Água/química , Catálise
11.
Opt Lett ; 39(21): 6205-8, 2014 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-25361315

RESUMO

We report improved minority carrier lifetimes in n-type-doped and tensile-strained germanium by measuring direct bandgap photoluminescence from germanium-on-insulator substrates with various levels of defect density. We first describe a method to fabricate a high-quality germanium-on-insulator substrate by employing direct wafer bonding and chemical-mechanical polishing. Raman spectroscopy measurement was performed to assess the purity of the transferred layer on an insulator. Using time-resolved photoluminescence decay measurement, we observe that minority carrier lifetimes can be improved by over a factor of 3 as the defective top interface of our material stack is removed. Our high-quality germanium-on-insulator should be an ideal platform for high-performance, germanium-based photonic devices for on-chip optical interconnects.

12.
Nano Lett ; 13(7): 3118-23, 2013 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-23758608

RESUMO

Semiconductor heterostructures play a vital role in photonics and electronics. They are typically realized by growing layers of different materials, complicating fabrication and limiting the number of unique heterojunctions on a wafer. In this Letter, we present single-material nanowires which behave exactly like traditional heterostructures. These pseudoheterostructures have electronic band profiles that are custom-designed at the nanoscale by strain engineering. Since the band profile depends only on the nanowire geometry with this approach, arbitrary band profiles can be individually tailored at the nanoscale using existing nanolithography. We report the first experimental observations of spatially confined, greatly enhanced (>200×), and wavelength-shifted (>500 nm) emission from strain-induced potential wells that facilitate effective carrier collection at room temperature. This work represents a fundamentally new paradigm for creating nanoscale devices with full heterostructure behavior in photonics and electronics.

13.
Pharmaceutics ; 16(6)2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38931935

RESUMO

EGFRvIII is expressed only in tumor cells and strongly in glioblastoma and is considered a promising target in cancer diagnosis and therapy. Aptamers are synthetic single-stranded oligonucleotides that bind to biochemical target molecules with high binding affinity and specificity. This study examined the potential of the 68Ga-NOTA-EGFRvIII aptamer as a nuclear imaging probe for visualizing EGFRvIII-expressing glioblastoma by positron emission tomography (PET). EGFRvIII aptamer was selected using the SELEX technology, and flow cytometry and fluorescence microscopy verified the high binding affinity to EGFRvIII positive U87MG vIII 4.12 glioma cells but not to EGFRvIII negative U87MG cells. The EGFRvIII aptamer was conjugated with a chelator (1,4,7-triazanonane-1,4,7-triyl)triacetic acid (NOTA) for 68Ga-labeling. The 68Ga-NOTA-EGFRvIII aptamer was prepared using the preconcentration-based labeling method with a high radiolabeling yield at room temperature. Ex vivo biodistribution analyses confirmed the significantly higher tumor uptake of the 68Ga-NOTA-EGFRvIII aptamer in EGFRvIII-expressing xenograft tumors than that in EGFRvIII negative tumors, confirming the specific tumor uptake of the 68Ga-NOTA-EGFRvIII aptamer in vivo. PET imaging studies revealed a high retention rate of the 68Ga-NOTA-EGFRvIII aptamer in U87MG vIII 4.12 tumors but only low uptake levels in U87-MG tumors, suggesting that the 68Ga-NOTA-EGFRvIII aptamer may be used as a PET imaging agent for EGFRvIII-expressing glioblastoma.

14.
Opt Express ; 21(22): 26387-97, 2013 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-24216861

RESUMO

Accumulating electrons in transparent conductive oxides such as indium tin oxide (ITO) can induce an "epsilon-near-zero" (ENZ) in the spectral region near the important telecommunications wavelength of λ = 1.55 µm. Here we theoretically demonstrate highly effective optical electro-absorptive modulation in a silicon waveguide overcoated with ITO. This modulator leverages the combination of a local electric field enhancement and increased absorption in the ITO when this material is locally brought into an ENZ state via electrical gating. This leads to large changes in modal absorption upon gating. We find that a 3 dB modulation depth can be achieved in a non-resonant structure with a length under 30 µm for the fundamental waveguide modes of either linear polarization, with absorption contrast values as high as 37. We also show a potential for 100 fJ/bit modulation, with a sacrifice in performance.

15.
Clin Exp Nephrol ; 17(2): 284-93, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23150184

RESUMO

BACKGROUND: Epithelial-to-mesenchymal transition (EMT) of peritoneal mesothelial cells has been regarded as an early mechanism of peritoneal fibrosis. A substantial and rapidly growing literature indicates that HO-1 provides the provenance for pathways that can interrupt virtually all major mechanisms of tissue injury. The effects of HO-1 expression on EMT, which plays a critical role in the development of peritoneal membrane (PM) fibrosis, are unknown and its roles in peritoneal fibrosis has not been studied, yet. METHODS: A piece of human omentum obtained from consenting patients undergoing elective abdominal surgery was used for study. We treated the human peritoneal mesothelial cells (HPMCs) with high glucose solution and HO-1 inducer (hemin, 10 µmol/L). To further investigate the pure effect of HO-1 on EMT of mesothelium, gene transfer of recombinant Adenovirus-harboring human HO-1 (Adv-HO-1 gene) to HPMCs was done. RESULTS: Exposure of HPMCs to HG solution resulted in an increase of the expression of mesenchymal markers such as α-smooth muscle actin (α-SMA) and was associated with a decrease in the expression of epithelial markers, E-cadherin. HO-1 protein expression was decreased in the same situation. Treatment of HPMCs with HO-1 inducer, hemin showed a dosage-dependent amelioration of HG induced changes in markers of EMT with increase of expression of HO-1. Human HO-1 gene transfection resulted in a significant increase in HO-1 expression and ameliorated HG-induced changes in expression of E-cadherin and α-SMA. CONCLUSION: Taken together, our results suggest that HO-1 has a critical role in the modulation of peritoneal fibrosis, and, more important, the suppression of EMT. This study is the first to show the beneficial effect of HO-1 on reversing EMT in MC.


Assuntos
Células Epiteliais/fisiologia , Transição Epitelial-Mesenquimal/fisiologia , Heme Oxigenase-1/fisiologia , Actinas/metabolismo , Caderinas/metabolismo , Dependovirus/genética , Indução Enzimática/efeitos dos fármacos , Fibrose , Técnicas de Transferência de Genes , Vetores Genéticos/genética , Glucose/farmacologia , Heme Oxigenase-1/biossíntese , Heme Oxigenase-1/genética , Hemina/farmacologia , Humanos , Imuno-Histoquímica , Peritônio/citologia , Peritônio/efeitos dos fármacos , Peritônio/patologia , Plasmídeos/genética , Reação em Cadeia da Polimerase , Fator de Crescimento Transformador beta1/metabolismo
16.
J Korean Med Sci ; 28(7): 1065-70, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23853491

RESUMO

We performed a nationwide epidemiological study to evaluate the prevalence and characteristics of nocturnal enuresis (NE) in Korean adolescents and adults. A questionnaire was sent via e-mail to 51,073 people aged 16-40 yr by stratified sampling according to age, sex, and region among a 200,000 internet survey panel pool. The questionnaire included following information; presence or absence of NE, frequency of NE, possible risk factors for NE, self-esteem scale score and depression score results, and measures for the treatment of NE. Among the 2,117 responders, 54 (2.6%) had NE (≥1 enuretic episode within 6 months). Of 54 bedwetters, 9.3% wet ≥1 night per week and 20.5% wet ≥1 per month. The prevalence rates remained relatively stable with no apparent trend of reduction with age. The presence of sleep disturbance, family history, urgency, or urge incontinence increased the probability of NE episode significantly. The self-esteem score was lower (P=0.053) and the depression scale score was higher (P=0.003) in bedwetters compared with non-bedwetters. Overall 2.6% of Korean aged 16-40 yr have NE. The higher rate of urgency and urge incontinence in adolescent and adult enuretics suggests that bladder function has an important role in adolescent and adult NE.


Assuntos
Enurese Noturna/epidemiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , República da Coreia/epidemiologia , Fatores de Risco , Transtornos do Sono-Vigília , Inquéritos e Questionários , Incontinência Urinária/epidemiologia , Adulto Jovem
17.
Opt Express ; 19(15): 13892-8, 2011 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-21934750

RESUMO

A low-loss plasmonic cavity is proposed comprising of channel waveguides of different widths. Numerical simulations show that surface plasmons are strongly confined by a mode-gap mechanism in the cavity that has a mode volume of 0.0040 (λ/n)3 and a room temperature quality (Q) factor of 125. The introduction of low-index material can enhance the room temperature Q factor by 2.5 times to 350, while maintaining the mode confinement of 0.040 (λ/n)3- well below the wavelength-scale in free space. The suppression of losses from radiation and metallic absorption in the cavity would allow room temperature plasmonic laser operation, and constitutes significant progress towards practical coherent light sources for such lasers.

18.
Opt Lett ; 36(11): 2011-3, 2011 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-21633432

RESUMO

We propose an ultrasmall plasmonic cavity consisting of a high-index/low-index dielectric nanorod covered with silver. Full three-dimensional subwavelength confinement of the surface-plasmon polaritons was achieved at the high-index dielectric-silver interface without propagating to the low-index dielectric-silver interface. The numerical simulations showed that the plasmonic mode excited in this cavity has a deep subwavelength mode volume of 0.0038(λ/2n)(3) and a quality factor of 1500 at 40 K, and consequently a large Purcell factor of ∼2×10(5). Therefore, this plasmonic cavity is expected to be useful for the demonstration of high-efficiency single photon sources or low-threshold lasers in an ultracompact nanophotonic circuit.

19.
Nano Lett ; 10(9): 3679-83, 2010 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-20704325

RESUMO

We report the experimental demonstration of an optically pumped silver-nanopan plasmonic laser with a subwavelength mode volume of 0.56(lambda/2n)(3). The lasing mode is clearly identified as a whispering-gallery plasmonic mode confined at the bottom of the silver nanopan from measurements of the spectrum, mode image, and polarization state, as well as agreement with numerical simulations. In addition, the significant temperature-dependent lasing threshold of the plasmonic mode contrasts and distinguishes them from optical modes. Our demonstration and understanding of these subwavelength plasmonic lasers represent a significant step toward faster, smaller coherent light sources.

20.
Clin Chim Acta ; 518: 116-122, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33775700

RESUMO

Gitelman syndrome (GS) is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3, which encodes the Na-Cl cotransporter (NCC). Osteogenesis imperfecta (OI) is an autosomal dominant disorder caused by the inheritance of mutations mainly in the COL1A1 gene, resulting in bone fragility and deformity. In this study, we aimed to investigate the clinical and genetic manifestations in a 7-year-old boy with OI, who had electrolyte abnormalities and his four family members. Complete sequence analysis of COL1A1 revealed a novel mutation, c.268G>T, p.Glu90del. The gene mutation of OI in the patient's older brother was inherited from his mother, and the younger brother had no mutation. Two pathogenic mutations (c.179C>T, p.Thr60Met and c.1763C>T, p.Ala588Val) in SLC12A3 resulting in GS were also identified in the patient. The OI-related genetic mutation in the patient was consistent with that in the patient's mother. The GS-related genetic mutations were inherited from each parent. This study is the first to identify compound heterozygous variants in the SLC12A3 gene and a novel mutation in the COL1A1 gene in patients with OI and GS. Our findings indicate that genetic analysis is recommended to differentiate GS from BS, as clinical manifestations do not provide an accurate diagnosis.


Assuntos
Síndrome de Gitelman , Osteogênese Imperfeita , Criança , Testes Genéticos , Síndrome de Gitelman/genética , Humanos , Masculino , Mutação , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genética , Linhagem , Membro 3 da Família 12 de Carreador de Soluto/genética
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