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1.
World J Microbiol Biotechnol ; 38(1): 9, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34850291

RESUMO

Cadmium (Cd) pollution has become a global environmental issue because Cd gets easily accumulated and translocated in the food chain, threatening human health. Considering the detrimental effects and non-biodegradability of environmental Cd, this is an urgent issue that needs to be addressed through the development of robust, cost-effective, and eco-friendly green routes for monitoring and remediating toxic levels of Cd. This article attempts to review various bacterial approaches toward biosensing and bioremediation of Cd in the environment. This review focuses on the recent development of bacterial cell-based biosensors for the detection of bioavailable Cd and the bioremediation of toxic Cd by natural or genetically-engineered bacteria. The present limitations and future perspectives of these available bacterial approaches are outlined. New trends for integrating synthetic biology and metabolic engineering into the design of bacterial biosensors and bioadsorbers are additionally highlighted.

2.
ACS Appl Mater Interfaces ; 13(46): 55756-55765, 2021 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-34780161

RESUMO

Robotic hands with tactile perception can perform more advanced and safer operations, such as material recognition. Nanowires with high sensitivity, fast response, and low power consumption are suitable for multifunctional flexible tactile sensors to provide the tactile perception of robotic hands. In this work, we designed a multifunctional soft robotic finger with a built-in nanoscale temperature-pressure tactile sensor for material recognition. The flexible multifunctional tactile sensor integrates a nanowire-based temperature sensor and a conductive sponge pressure sensor to measure the temperature change rate and contact pressure simultaneously. The developed nanoscale temperature and conductive sponge pressure sensor can reach a high sensitivity of 1.196%/°C and 13.29%/kPa, respectively. With this multifunctional tactile sensor, the soft finger can quickly recognize four metals within three contact pressure ranges and 13 materials within a high contact pressure range. By combining tactile information and artificial neural networks, the soft finger can recognize the materials precisely with a high recognition accuracy of 92.7 and 95.9%, respectively. This work proves the application potential of the multifunctional soft robot finger in material recognition.

3.
Front Microbiol ; 12: 696195, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34603225

RESUMO

Cadmium (Cd) is carcinogenic to humans and can accumulate in the liver, kidneys, and bones. There is widespread presence of cadmium in the environment as a consequence of anthropogenic activities. It is important to detect cadmium in the environment to prevent further exposure to humans. Previous whole-cell biosensor designs were focused on single-sensing constructs but have had difficulty in distinguishing cadmium from other metal ions such as lead (Pb) and mercury (Hg). We developed a dual-sensing bacterial bioreporter system to detect bioavailable cadmium by employing CadC and CadR as separate metal sensory elements and eGFP and mCherry as fluorescent reporters in one genetic construct. The capability of this dual-sensing biosensor was proved to simultaneously detect bioavailable cadmium and its toxic effects using two sets of sensing systems while still maintaining similar specificity and sensitivity of respective signal-sensing biosensors. The productions of double-color fluorescence were directly proportional to the exposure concentration of cadmium, thereby serving as an effective quantitative biosensor to detect bioavailable cadmium. This novel dual-sensing biosensor was then validated to respond to Cd(II) spiked in environmental water samples. This is the first report of the development of a novel dual-sensing, whole-cell biosensor for simultaneous detection of bioavailable cadmium. The application of two biosensing modules provides versatile biosensing signals and improved performance that can make a significant impact on monitoring high concentration of bioavailable Cd(II) in environmental water to reduce human exposure to the harmful effects of cadmium.

4.
Front Oncol ; 11: 718781, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34692493

RESUMO

Cervical cancer, which is significantly associated with high-risk human papillomavirus (HPV) infection, currently ranks the fourth most common cancer among women worldwide. Previous literature reported that the elevated expression of G6PD was significantly correlated with the occurrence and deterioration of human cervical cancer, especially with the cervical cancer with HPV16 and HPV18 infection. In this study, we verified that G6PD expression has a strong positive correlation with HPV16 E6 levels in cervical cancer tissues and cells. In addition, regulating the expression of HPV16 E6 significantly affected the proliferation, apoptosis, migration, and invasion in the cervical cancer HeLa cells, as well as the transcript and protein levels of G6PD. The luciferase reporter assay and ChIP assay proved that HPV16 E6 stimulated the transcription of G6PD mRNA and subsequently enhanced the expression of G6PD through directly binding to the specific sites in the promoter of G6PD. Our findings reveal that HPV16 E6 is a novel regulatory factor of G6PD. Furthermore, by regulating the expression of G6PD, HPV16 E6 might promote the proliferation and migration potential, and inhibit apoptosis of cervical cancer cells, which ultimately contributed to the progression and metastasis of cervical cancer.

6.
Audiol Neurootol ; : 1-8, 2021 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-34515057

RESUMO

INTRODUCTION: The purpose of this article was to determine the prevalence of inner ear symptoms in patients with blunt head trauma and to explore whether the severity of head trauma was associated with the incidence of such symptoms. METHODS: We performed a retrospective review of 56 patients admitted with blunt head trauma who underwent audiovestibular evaluation within 1 month after injury. Two scales were used to measure the severity of trauma; these were the Glasgow Coma Scale (GCS) and the Head Abbreviated Injury Scale (H-AIS). Patients with sensorineural-type hearing loss, or dizziness with nystagmus, were considered to have inner ear symptoms. RESULTS: About half of all patients (45%) with blunt head trauma showed trauma-related inner ear symptoms. Patients with inner ear symptoms were significantly more likely to have H-AIS scores ≥4 than those without inner ear symptoms (p = 0.004), even without concomitant temporal bone fracture (p > 0.05). Also, patients with inner ear symptoms required a statistically significantly longer time (measured from admission) before undergoing their ontological evaluations than did those without such symptoms (p = 0.002), possibly due to prolonged bed rest and use of sedatives. CONCLUSION: Thus, detailed history-taking and early evaluation using trauma scales are essential for all patients suffering from severe head trauma. It may be necessary to initiate early treatment of traumatic inner ear diseases.

7.
Appl Microbiol Biotechnol ; 105(14-15): 6087-6102, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34291315

RESUMO

During the last few decades, whole-cell biosensors have attracted increasing attention for their enormous potential in monitoring bioavailable heavy metal contaminations in the ecosystem. Visual and measurable output signals by employing natural pigments have been demonstrated to offer another potential choice to indicate the existence of bioavailable heavy metals in recent years. The biosynthesis of the blue pigment indigoidine has been achieved in E. coli following heterologous expression of both BpsA (a single-module non-ribosomal peptide synthetase) and PcpS (a PPTase to activate apo-BpsA). Moreover, we demonstrated herein the development of the indigoidine-based whole-cell biosensors to detect bioavailable Hg(II) and Pb(II) in water samples by employing metal-responsive transcriptional regulator MerR and PbrR as the sensory elements, and the indigoidine biosynthesis gene cluster as a reporter element. The resulting indigoidine-based biosensors presented a good selectivity and high sensitivity to target metal ions. High concentration of target metal exposure could be clearly recognized by the naked eye due to the color change by the secretion of indigoidine, and quantified by measuring the absorbance of the culture supernatants at 600 nm. Dose-response relationships existed between the exposure concentrations of target heavy metals and the production of indigoidine. Although fairly good linear relationships were obtained in a relatively limited concentration range of the concentrations of heavy metal ions, these findings suggest that genetically controlled indigoidine biosynthesis triggered by the MerR family transcriptional regulator can enable a sensitive, visual, and qualitative whole-cell biosensor for bioindicating the presence of bioaccessible heavy metal in environmental water samples. KEY POINTS: • Biosynthesis pathway of indigoidine reconstructed in a high copy number plasmid in E. coli. • Visual and colorimetric detection of Hg(II) and Pb(II) by manipulation of indigoidine biosynthesis through MerR family metalloregulator. •Enhanced detection sensitivity toward Hg(II) and Pb(II) achieved using novel pigment-based whole-cell biosensors.


Assuntos
Técnicas Biossensoriais , Metais Pesados , Ecossistema , Escherichia coli/genética , Piperidonas
8.
FEBS Lett ; 595(15): 1977-1986, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34118067

RESUMO

Thioredoxin reductase (TrxR) is a central component in the thioredoxin system by involving in catalyzing the reduction of thioredoxin, which is critical for organism survival. Because this system is essential, it is a promising target for novel antimicrobial agents. Herein, we solved the 1.9 Å high-resolution structure of TrxR from Acinetobacter baumannii Thioredoxin reductase (AbTrxR), which is a Gram-negative, pathogenic bacterium and a drug-resistant superbug. AbTrxR was cofactor-free and formed a dimer in solution. AbTrxR contained a longer dimerization loop2 and a shorter ß7 -ß8 connecting loop than other TrxRs. AbTrxR cofactor-free form exhibited a flavin-oxidizing (FO) conformation, whose NADPH domain was located close to the dimeric interface. This structural information might be helpful for development of new antibiotic agents targeting superbugs.


Assuntos
Acinetobacter baumannii/enzimologia , Tiorredoxina Dissulfeto Redutase/química , Sequência de Aminoácidos , Cristalografia por Raios X , Dimerização , Modelos Moleculares , NADP/química , Conformação Proteica , Domínios Proteicos , Homologia de Sequência de Aminoácidos , Espectrofotometria Ultravioleta
9.
Sci Rep ; 11(1): 13516, 2021 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-34188121

RESUMO

Engineered microorganisms have proven to be a highly effective and robust tool to specifically detect heavy metals in the environment. In this study, a highly specific pigment-based whole-cell biosensor has been investigated for the detection of bioavailable Hg(II) based on an artificial heavy metal resistance operon. The basic working principle of biosensors is based on the violacein biosynthesis under the control of mercury resistance (mer) promoter and mercury resistance regulator (MerR). Engineered biosensor cells have been demonstrated to selectively respond to Hg(II), and the specific response was not influenced by interfering metal ions. The response of violacein could be recognized by the naked eye, and the time required for the maximum response of violacein (5 h) was less than that of enhanced green fluorescence protein (eGFP) (8 h) in the single-signal output constructs. The response of violacein was almost unaffected by the eGFP in a double-promoter controlled dual-signals output construct. However, the response strength of eGFP was significantly decreased in this genetic construct. Exponentially growing violacein-based biosensor detected concentrations as low as 0.39 µM Hg(II) in a colorimetric method, and the linear relationship was observed in the concentration range of 0.78-12.5 µM. Non-growing biosensor cells responded to concentrations as low as 0.006 µM Hg(II) in a colorimetric method and in a Hg(II) containing plate sensitive assay, and the linear relationship was demonstrated in a very narrow concentration range. The developed biosensor was finally validated for the detection of spiked bioavailable Hg(II) in environmental water samples.


Assuntos
Proteínas de Bactérias , Técnicas Biossensoriais , Proteínas de Ligação a DNA , Escherichia coli , Proteínas de Fluorescência Verde , Mercúrio/análise , Microrganismos Geneticamente Modificados , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Escherichia coli/genética , Escherichia coli/metabolismo , Proteínas de Fluorescência Verde/biossíntese , Proteínas de Fluorescência Verde/genética , Microrganismos Geneticamente Modificados/genética , Microrganismos Geneticamente Modificados/metabolismo
10.
ACS Sens ; 6(6): 2386-2394, 2021 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-34102847

RESUMO

Smartphone-enabled microfluidic chemiluminescence immunoassay is a promising portable system for point-of-care (POC) biosensing applications. However, due to the rather faint emitted light in such a limited sample volume, it is still difficult to reach the clinically accepted range when the smartphone serves as a standalone detector. Besides, the multiple separation and washing steps during sample preparation hinder the immunoassay's applications for POC usage. Herein, we proposed a novel acoustic streaming tweezers-enabled microfluidic immunoassay, where the probe particles' purification, reaction, and sensing were simply achieved on the same chip at continuous-flow conditions. The dedicatedly designed high-speed microscale vortexes not only enable dynamic trapping and washing of the probe particles on-demand but also enhance the capture efficiency of the heterogeneous particle-based immunoassay through active mixing during trapping. The enriched probe particles and enhanced biomarker capture capability increase the local chemiluminescent light intensity and enable direct capture of the immunobinding signal by a regular smartphone camera. The system was tested for prostate-specific antigen (PSA) sensing both in buffer and serum, where a limit of detection of 0.2 ng/mL and a large dynamic response range from 0.3 to 10 ng/mL using only 10 µL of sample were achieved in a total assay time of less than 15 min. With the advantages of on-chip integration of sample preparation and detection and high sensing performance, the developed POC platform could be applied for many on-site diagnosis applications.


Assuntos
Microfluídica , Smartphone , Acústica , Humanos , Imunoensaio , Medições Luminescentes , Masculino
11.
PLoS One ; 16(5): e0252190, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34038487

RESUMO

Mercury exists naturally and mainly as a man-made pollutant in the environment, where it exerts adverse effects on local ecosystems and living organisms. It is important to develop an appropriate synthetic biological device that recognizes, detects and removes the bioavailable fraction of environmental mercury. Both single-signal and double-signal output mercury biosensors were assembled using a natural mer operon as a template. Selectivity and sensitivity of whole-cell biosensors based on artificial mer operons were determined. Three whole-cell biosensors were highly stable at very high concentrations of mercuric chloride, and could detect bioavailable Hg(II) in the concentration range of 6.25-200 µM HgCl2. A novel Hg(II) bioadsorption coupled with biosensing artificial mer operon was assembled. This would allow Hg(II)-induced Hg(II) binding protein cell surface display and green fluorescence emission to be achieved simultaneously while retaining the linear relationship between fluorescent signal and Hg(II) exposure concentration. The present study provides an innovative way to simultaneously detect, quantify, and remove bioavailable heavy metal ions using an artificially reconstructed heavy metal resistance operon.


Assuntos
Técnicas Biossensoriais , Escherichia coli/genética , Escherichia coli/metabolismo , Mercúrio/metabolismo , Óperon/genética , Ecossistema , Cloreto de Mercúrio/farmacologia
12.
Front Bioeng Biotechnol ; 9: 585617, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33644011

RESUMO

The development of genetic engineering, especially synthetic biology, greatly contributes to the development of novel metal biosensors. The cad operon encoding cadmium resistance was previously characterized from Pseudomonas putida. In this study, single-, dual-, and triple-signal output Cd(II) biosensors were successfully developed using artificial translationally coupled cad operons. Sensitivity, selectivity, and response toward Cd(II) and Hg(II), of three biosensors were all determined. Reporter signals of three biosensors all increased within the range 0.1-3.125 µM Cd(II). Three biosensors responded strongly to Cd(II), and weakly to Hg(II). However, the detection ranges of Cd(II) and Hg(II) do not overlap in all three biosensors. Next, novel Cd(II) biosensing coupled with bioadsorptive artificial cad operons were assembled for the first time. Cd(II)-induced fluorescence emission, enzymatic indication, and Cd(II) binding protein surface display can be achieved simultaneously. This study provides an example of one way to realize multiple signal outputs and bioadsorption based on the redesigned heavy metal resistance operons, which may be a potential strategy for biodetection and removal of toxic metal in the environment, facilitating the study of the mechanism and dynamics of bioremediation.

13.
Am J Hypertens ; 34(8): 831-839, 2021 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-33605981

RESUMO

BACKGROUND: In China, hypertension prevalence is high and increasing while the control rate is low, especially in rural areas. Traditionally, village doctors play an important role in infectious disease control and delivering essential health services to rural residents. We aim to test the effectiveness of a village doctor-led multifaceted intervention compared with usual care on blood pressure (BP) control and cardiovascular disease (CVD) among rural residents with hypertension in China. METHODS: In the China Rural Hypertension Control Project (CRHCP), a cluster randomized trial, 163 villages were randomly assigned to the village doctor-led intervention and 163 villages to control. A total of 33,995 individuals aged ≥40 years with an untreated BP ≥140/90 mm Hg or treated BP ≥130/80 mm Hg or with an untreated BP ≥130/80 mm Hg and a history of clinical CVD were recruited into the study. The village doctor-led multifaceted intervention is designed to overcome barriers at the healthcare system, provider, patient, and community levels. Village doctors receive training on standard BP measurement, protocol-based hypertension treatment, and health coaching. They also receive technical support and supervision from hypertension specialists/primary care physicians and performance-based financial incentives. Study participants receive health coaching on home BP monitoring, lifestyle changes, and adherence to medications. The primary outcome is BP control (<130/80 mm Hg) at 18 months in phase 1 and CVD events over 36 months in phase 2. CONCLUSIONS: The CRHCP will provide critically important data on the effectiveness, implementation, and sustainability of a hypertension control strategy in rural China for reducing the BP-related CVD burden. CLINICAL TRIALS REGISTRATION: Trial Number NCT03527719.

14.
Neurosurgery ; 88(6): 1095-1102, 2021 05 13.
Artigo em Inglês | MEDLINE | ID: mdl-33556169

RESUMO

BACKGROUND: More effective therapies are needed to treat progressive desmoid tumors when active surveillance and systemic therapy fail. OBJECTIVE: To assess the efficacy and safety of sandwich isolation surgery on the local control of progressive desmoid tumors involving neurovascular bundles. METHODS: A total of 27 patients with progressive desmoid tumors at extremities involving neurovascular bundles who received surgery at our hospital between August 2014 and August 2018 were identified. A total of 13 patients received sandwich isolation surgery, in which R2 resection was performed in neurovasculature-involving regions, and a biomaterial patch was used to envelop involved neurovascular structures and isolate residual tumors. In non-neurovasculature-involving regions, wide resection was performed without isolation. A total of 14 patients received traditional surgery, which included tumor resection without isolation procedure. RESULTS: In sandwich isolation group, tumor progressions and local recurrences occurred in 3 patients outside the isolated neurovasculature-involving regions. However, no progressions or recurrences occurred in any patients in the isolated neurovasculature-involving regions where R2 resection was performed. Sandwich isolation surgery group and traditional surgery group shared similar baseline clinical characteristics. The estimated 3-yr event-free survival rate was 76.9% after sandwich isolation surgery, and 32.7% after traditional surgery (P = .025). Patients who received sandwich isolation surgery were less likely to have local recurrence (hazard ratio: 0.257, P = .040). No complications were noted except intermittent mild pain in operative regions (2 cases). CONCLUSION: Sandwich isolation surgery is effective and safe for local control of desmoid tumors involving neurovascular bundles.


Assuntos
Fibromatose Agressiva/cirurgia , Recidiva Local de Neoplasia/cirurgia , Neoplasia Residual/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Adolescente , Adulto , Fibromatose Agressiva/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Neoplasia Residual/patologia , Intervalo Livre de Progressão , Radioterapia Adjuvante , Estudos Retrospectivos , Resultado do Tratamento
15.
Exp Cell Res ; 401(1): 112396, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33485842

RESUMO

RING finger protein 6 (RNF6), a RING finger protein, has been identified as a potential tumor promoter in several cancers. However, the exact mechanism of RNF6 in cancer remains elusive. As in various diseases, RNF6 may be involved in regulating cell growth, cell proliferation, invasion, cell cycle progression, apoptosis and cell adhesion through E3 ligase-mediated ubiquitination. Thus, the research on RNF6 is mainly focused on the ubiquitination of RNF6 in recent years. This article summarizes the role of RNF6 ubiquitination in various physiological and pathological mechanisms, such as Akt/mTOR signaling pathway, Wnt/ß-catenin pathway, RNF6/ERα/Bcl-xL axis, and provides knowledge and understanding for the treatment of diseases.


Assuntos
Carcinogênese/genética , Proteínas de Ligação a DNA/genética , Neoplasias/genética , Transcrição Genética , Proliferação de Células/genética , Receptor alfa de Estrogênio/genética , Humanos , Neoplasias/patologia , Proteínas Proto-Oncogênicas c-akt/genética , Serina-Treonina Quinases TOR/genética , Ubiquitinação/genética , Proteína bcl-X/genética
16.
Lab Chip ; 21(2): 385-396, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33315024

RESUMO

We developed a low-cost method for fabricating "soil-on-a-chip" micromodels with 2D and 2.5D pore structures by stacking layers made with a conventional low-cost tabletop CNC router followed by tape bonding. The pore structure was extracted from an X-ray micro-computed tomography scanning image of a medium-grain sandstone sample. The imbibition experiments performed in the 2D and 2.5D micromodels showed the trends of the residual saturation versus capillary number (Ca). The channels showed opposing trends for low-aspect-ratio 2D and high-aspect-ratio 2.5D micromodels. As the channel aspect ratio increased, the location of air entrapment changed from dead-end pores to transport pores. The sizes of trapped air bubbles in the transport pores decreased as the injection flow rates increased. To show the relationship between the air trapped size and Ca, we derived equations that described the competition between the bulk menisci and the corner flow in the channels for different Ca based on the "supply principle." The relative contributions of the piston displacement and corner film flow, which were dependent on the cross-sectional shapes of the pores and Ca, determined the size and location of the air bubbles trapped in the 2.5D micromodel.

17.
J Asian Nat Prod Res ; 23(6): 609-614, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32644854

RESUMO

Previous work has shown that the lignans from the twigs and leaves of Archidendron clypearia (Jack) I.C.N. possess anti-ß-amyloid aggregation activity. Here we report a new dilignan, archidendronin A (1), along with one known sesquilignan (2). Their structures were determined by extensive spectroscopic methods, including UV, HRESIMS, 1 D and 2 D NMR data. The inhibitory activity on Aß1-42 aggregation was screened by ThT assay with curcumin as the positive control, and compounds 1 and 2 showed inhibition rate of 60.0% and 64.4% at 20 µM, respectively.[Formula: see text].


Assuntos
Fabaceae , Lignanas , Estrutura Molecular , Extratos Vegetais , Folhas de Planta
18.
Nat Prod Res ; 35(16): 2789-2792, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31533476

RESUMO

A new triterpene as well as five known compounds were isolated from the twigs and leaves of Archidendron clypearia (Jack) I.C.N. Their structures were established by comprehensive spectroscopic analyses including 1D, 2D NMR and HRESIMS data. The ability of all isolated compounds to inhibit ß-amyloid aggregation was investigated by a ThT-based fluorometric assay. Among them, compounds 3 (67.8%) and 6 (77.7%) exhibited higher inhibitory activity than the positive (48.0%). In addition, molecular dynamics and molecular docking have been utilized to predict the detailed binding interaction between ligands and Aß1-42.


Assuntos
Peptídeos beta-Amiloides/antagonistas & inibidores , Fabaceae , Triterpenos , Fabaceae/química , Simulação de Acoplamento Molecular , Estrutura Molecular , Compostos Fitoquímicos/isolamento & purificação , Compostos Fitoquímicos/farmacologia , Folhas de Planta/química , Triterpenos/isolamento & purificação , Triterpenos/farmacologia
19.
World J Clin Cases ; 8(23): 6197-6205, 2020 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-33344623

RESUMO

BACKGROUND: Polyostotic fibrous dysplasia (PFD) is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue. The etiology of PFD is unclear, but it is generally thought to be caused by sporadic, post-zygotic mutations in the GNAS gene. Herein, we report the case of a young female with bone pain and lesions consistent with PFD, unique physical findings, and gene mutations. CASE SUMMARY: A 27-year-old female presented with unbearable bone pain in her left foot for 4 years. Multiple bone lesions were detected by radiographic examinations, and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia, vitreous opacity, and choroidal atrophy. Her serum cortisol level was high, consistent with Cushing syndrome. Due to consanguineous marriage of her grandparents, boosted whole exome screening was performed to identify gene mutations. The results revealed mutations in HSPG2 and RIMS1, which may be contributing factors to her unique findings. CONCLUSION: The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes.

20.
Ann Surg Treat Res ; 99(6): 362-369, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33304864

RESUMO

Purpose: Resuscitative endovascular balloon occlusion of the aorta (REBOA) has emerged as a salvage technique changing the paradigm in the management of noncompressible torso hemorrhage. However, training for the REBOA procedure is rarely performed. The endovascular training for REBOA (ET-REBOA) course was conducted to develop the endovascular skills of participants. Methods: Sixteen residents and 12 specialists participated in this educational course. All participants were provided with precourse learning materials. The ET-REBOA course consisted of 2 sections; an ultrasound-guided sheath insertion on the puncture model, and a balloon manipulation on the vascular circuit model. A 13-item procedure checklist and the time required to perform the procedure were examined. Pre/post self-reported confidence score and course satisfaction questionnaire were obtained. Results: Twenty-eight participants performed the 56 REBOA procedures. On the first attempt, the median total time for REBOA from ultrasound-guided vascular access to balloon inflation was 1,139 ± 250 seconds in the resident group and 828 ± 280 seconds in the specialist group. The median shortened time for completion was 273 seconds and 290 seconds respectively. A significant decrease in procedure task time was observed between first and second attempts in the resident group (P = 0.016), specialist group (P = 0.004), and in total among all participants (P < 0.001). Conclusion: The ET-REBOA course significantly decreased the time taken to perform the REBOA procedure with high satisfaction of the participants. The course could be an effective curriculum for the development of endovascular skills for performing REBOA.

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