Marine Structural Health Monitoring with Optical Fiber Sensors: A Review.

Real-time monitoring of large marine structures' health, including drilling platforms, submarine pipelines, dams, and ship hulls, is greatly needed. Among the various kinds of monitoring methods, optical fiber sensors (OFS) have gained a lot of concerns and showed several distinct advantages, such as small size, high flexibility and durability, anti-electromagnetic interference, and high transmission rate. In this paper, three types of OFS used for marine structural health monitoring (SHM), including point sensing, quasi-distributed sensing, and distributed sensing, are reviewed. Emphases are given to the applicability of each type of the sensors by analyzing the operating principles and characteristics of the OFSs. The merits and demerits of different sensing schemes are discussed, as well as the challenges and future developments in OFSs for the marine SHM field.

Börjeson-Forssman-Lehmann syndrome: A case report. / Börjeson-Forssman-Lehmann综合征1例.

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.

Living algae detection with a PDMS-liquid chlorophyll fluorescence microfluidic chip filter and a smartphone.

Building an optical filtration function into a microfluidic chip is a promising way of simplifying the optical detection system of a microfluidic device. In this paper, a PDMS microfluidic chip filter that is capable of transmitting chlorophyll fluorescence and blocking interfering light in the visible wavelength range was developed for living algae detection with a smartphone. The chip was fabricated by sealing a layer of crystal violet solution in a PDMS layer on the top of the Sudan II-doped PDMS slab, which has a straight microchannel. Optimum dye concentrations and thicknesses for the crystal violet solution layer and Sudan II-doped PDMS slab were investigated and determined by spectrum measurements. It was found that the cut-on range of this integrated microfluidic chip is extended to about 625 nm and the transmittance in the chlorophyll fluorescence range (650 nm to 710 nm) is as high as 95%, when 25 mg L-1 Sudan II-doped PDMS slab (with a 3 mm thickness) and 2 mg L-1 crystal violet solution (with a 0.3 mm thickness) were used. Living algae detection using this chlorophyll-fluorescence-filtering PDMS microfluidic chip and a smartphone-based imaging platform was achieved, and the results compared favorably with those using a commercial filter.

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review. / NEXMIFåŸºå› çªå˜å¯¼è‡´æ™ºåŠ›éšœç¢åˆå¹¶ç™«ç—«2ä¾‹å¹¶æ–‡çŒ®å¤ä¹ .

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review. / BRAFåŸºå› çªå˜æ‰€è‡´å¿ƒ-面-皮肤综合征1ä¾‹å¹¶æ–‡çŒ®å¤ä¹ .

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.

[Application of ventricular shunt for children with post-infective hydrocephalus].

OBJECTIVE: To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus.
 Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed.
 Results: Of the 24 cases, 8 had a full recovery, 11 had slight sequela, 2 had severe sequela, 1 was in vegetative state, and 2 died because of bacterial meningitis and tubercular meningitis. Epilepsy, mental impairment, visual and hearing damage were the main sequelae.
 Conclusion: Ventricular shunt is the preferred treatment in children with post-infective hydrocephalus, which shows positive clinical efficacy and can improve the long-term prognosis of such patients.

[Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant].

A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines. Gene detection revealed a de novo heterozygous mutation, c.607G>A (p.G203R) , in GNAO1. The girl was then diagnosed with GNAO1-associated early infantile epileptic encephalopathy (EIEE type 17). The seizures were well controlled by topiramate and vigabatrin, but there was no improvement in psychomotor development. She also suffered from recurrent pulmonary infection and died at the age of 12 months due to severe pneumonia. For children with unexplained early infantile epileptic encephalopathy, GNAO1 gene mutations should be considered and genetic tests should be performed as early as possible. Recurrent pulmonary infection should also be taken seriously.

Simple method for self-referenced and lable-free biosensing by using a capillary sensing element.

We demonstrated a simple method for self-reference and label free biosensing based on a capillary sensing element and common optoelectronic devices. The capillary sensing element is illuminated by a light-emitting diode (LED) light source and detected by a webcam. Part of gold film that deposited on the tubing wall is functionalized to carry on the biological information in the excited SPR modes. The end face of the capillary was monitored and separate regions of interest (ROIs) were selected as the measurement channel and the reference channel. In the ROIs, the biological information can be accurately extracted from the image by simple image processing. Moreover, temperature fluctuation, bulk RI fluctuation, light source fluctuation and other factors can be effectively compensated during detection. Our biosensing device has a sensitivity of 1145%/RIU and a resolution better than 5.287 × 10-4 RIU, considering a 0.79% noise level. We apply it for concanavalin A (Con A) biological measurement, which has an approximately linear response to the specific analyte concentration. This simple method provides a new approach for multichannel SPR sensing and reference-compensated calibration of SPR signal for label-free detection.

A Low-Cost and Portable Dual-Channel Fiber Optic Surface Plasmon Resonance System.

A miniaturization and integration dual-channel fiber optic surface plasmon resonance (SPR) system was proposed and demonstrated in this paper. We used a yellow light-emitting diode (LED, peak wavelength 595 nm) and built-in web camera as a light source and detector, respectively. Except for the detection channel, one of the sensors was used as a reference channel to compensate nonspecific binding and physical absorption. We packaged the LED and surface plasmon resonance (SPR) sensors together, which are flexible enough to be applied to mobile devices as a compact and portable system. Experimental results show that the normalized intensity shift and refractive index (RI) of the sample have a good linear relationship in the RI range from 1.328 to 1.348. We used this sensor to monitor the reversible, specific interaction between lectin concanavalin A (Con A) and glycoprotein ribonuclease B (RNase B), which demonstrate its capabilities of specific identification and biochemical samples concentration detection. This sensor system has potential applications in various fields, such as medical diagnosis, public health, food safety, and environment monitoring.

Micro-capillary-based self-referencing surface plasmon resonance biosensor for determination of transferrin.

A novel self-referencing surface plasmon resonance (SPR) biosensor for detection of transferrin is demonstrated using a micro-capillary as the sensing element. The biosensor employs the SPR mode as a measuring signal and the Fabry-Perot (FP) mode as a referencing signal. The SPR mode is generated in the gold film that is coated on the outside of the capillary; instead, the FP mode is excited in the capillary, which is filled with de-ionized water. The FP mode is sensitive to temperature and insensitive to refractive index, which can be used as a referencing signal to compensate the effects caused by the temperature fluctuation. The sensor provides a high sensitivity of 1783.943 nm/RIU (refractive index unit) and a resolution of about 7.287×10-5 RIU. The self-referencing biosensor was applied to measurement of transferrin protein. It can monitor the interaction of transferrin protein with anti-transferrin in real time (0-5.228 µM). The simple and low-cost SPR sensor can be used for highly sensitive self-referencing biosensing for further investigations.

Micro-capillary-based evanescent field biosensor for sensitive, label-free DNA detection.

We proposed and demonstrated a micro-capillary-based, high-sensitivity evanescent field biosensor for the cost-effective, rapid, and sensitive analysis and detection of specific DNA sequences. By functionalizing the surface of the tubing wall with ssDNA probe sequences, label-free DNA detection is achieved. The wavelength shift response of the surface-functionalized biosensors to DNA hybridization is monitored in real time. Our experiments show that the biosensor can operate at room temperature and is capable of performing label-free hybridization detection, analyte concentration measurement and nucleotide mismatch detection through a single sensing device. The sensor has many advantages, such as a simple manufacturing process, standardized production control, reliable quality, low cost and an economic demodulator. The compact nature and miniature size of the biosensing detection system makes it a good candidate for the rapid and highly sensitive detection of low-concentration analytes in micro-samples for cost-effective, real-time, and on-site analysis in the fields of life science, pharmaceutical chemistry, medical science and criminal investigation.

Compact multi-channel surface plasmon resonance sensor for real-time multi-analyte biosensing.

A compact multi-channel surface plasmon resonance (SPR) biosensor is demonstrated based on a tablet as the measurement platform. The SPR biosensor employs a bundle of fiber-optic SPR sensors as the multiplexed sensing elements that are illuminated by a light-emitting diode (LED) plane light source and detected by a cordless camera. The multi-channel SPR biosensor was based on optical fiber components for precise, label-free and high-throughput detection without the use of complex, specialized or fragile instrumentation that would require optical calibration. The reference and control channels compensated for the fluctuation of the LED light source and the bulk refractive index, increasing the accuracy and reliability of the biosensor. The multi-channel SPR biosensor was applied for multi-analyte biosensing of immunoglobulin G (IgG) and concanavalin A (Con A). The channels functionalized with staphylococcal protein A (SPA) and ribonuclease B (RNase B) only showed relative intensity responses to their corresponding analytes. Moreover, the multi-channel SPR sensors responded to the specific detection of IgG and Con A with an approximately linear relative intensity response to the analyte concentration. Hence, multiple analytes were simultaneously and quantitatively detected with the multi-channel SPR biosensor. This compact, cost-effective multi-channel SPR biosensor is adapted for point-of-care tests, which are important in healthcare and environmental monitoring and for biomolecular interaction analysis.

Identification of marine microplastics based on laser-induced fluorescence and principal component analysis.

Although the laser-induced fluorescence method shows great potential for microplastic particle detection, overlapping fluorescence signals make accurate type and proportion identification difficult. This paper presents the identification of marine microplastics based on laser-induced fluorescence and principal component analysis. This method works by measuring the fluorescence spectra of water-containing microplastic samples irradiated with a 405-nm laser, which are then analyzed using the principal component analysis (PCA) method. The nine types of microplastics were differentiated based on their positions in the PCA score plot. The mixed sample was positioned between the pure microplastic samples. The component ratio determines its position relative to that of the pure microplastic samples. The first two principal components of the mixed microplastics were linearly dependent. Natural seawater had less influence on the detection, and a mass concentration as low as 0.03% was detected.

A Fiber Bragg Grating Sensor Based on Cladding Mode Resonance for Label-Free Biosensing.

A fiber-optic biosensing platform based on ultra-narrowband cladding mode resonances was developed on a high-reflectivity fiber Bragg grating (FBG) for targeting biomolecular detection. The multiple cladding modes with a high sensitivity to the refractive index (RI) were excited in the FBG by coupling between the forward-propagating guided core mode of the multimode fiber and the backward-propagating guided cladding mode of the FBG without any damage to the fiber structure or any change to the standard FBG manufacturing process. The full width at half maximum and the Q-factor of the typical cladding mode resonance operation of the proposed sensor are 80 pm and 19,270, respectively, which are better than those of most fiber-optic biosensors reported to date. In addition, the FBG sensor demonstrated a high sensitivity in protein detection and a high selectivity in serum sample assays. The sensitivity of this sensor was further increased simply by coating it with graphene oxide (GO) sheets on the sensing surface without using a signal amplification strategy. Furthermore, an ultra-low limit of detection (LOD) of 32 pM was obtained by the GO-coated FBG sensor for IgG detection. The proposed FBG sensor provides a competitive fiber-optic platform for biomolecular detection. It has a great potential for applications in label-free biosensing.

Data Glove with Self-Compensation Mechanism Based on High-Sensitive Elastic Fiber-Optic Sensor.

With the development of virtual reality (VR) interaction technology, data glove has become one of the most popular devices for human-computer interaction. It's valuable to design high-sensitive and flexible sensor for data glove. Therefore, a low-cost data glove based on self-compensating elastic optical fiber sensor with self-calibration function is proposed. The tunable and stretchable elastic fiber was fabricated by a simple, economical and controllable method. The fiber has good flexibility and high stability under stretching, bending and indentation deformation. The optical fibers are installed in the sensor in a U shape with a bending radius of 5 mm. Compared with the straight fiber, the response sensitivity of the U-shaped fiber to deformation is increased by about 7 times at most. The reference optical fiber is connected to the sensor, which effectively improves the stability and accuracy of the sensor system. In addition, the sensors are easy to install so that the data gloves can be customized for different hand shapes. In the gesture capture test, it can respond quickly and guide the manipulator to track the gesture. This responsive and stable data glove has broad development potential in motion monitoring, telemedicine and human-computer interaction.

Low-Cost Self-Calibration Data Glove Based on Space-Division Multiplexed Flexible Optical Fiber Sensor.

Wearable devices such as data gloves have experienced tremendous growth over the past two decades. It is vital to develop flexible sensors with fast response, high sensitivity and high stability for intelligent data gloves. Therefore, a tractable low-cost flexible data glove with self-calibration function based on a space-division multiplexed flexible optical fiber sensor is proposed. A simple, stable and economical method was used to fabricate flexible silicone rubber fiber for a stretchable double-layered coaxial cylinder. The test results show that the fiber is not sensitive to the temperature range of (20~50 °C) and exhibits excellent flexibility and high stability under tensile, bending and torsional deformation. In addition, the signal detection part of the data glove enables compact and efficient real-time information acquisition and processing. Combined with a self-calibration function that can improve the accuracy of data acquisition, the data glove can be self-adaptive according to different hand sizes and bending habits. In a gesture capture test, it can accurately recognize and capture each gesture, and guide the manipulator to make the same action. The low-cost, fast-responding and structurally robust data glove has potential applications in areas such as sign language recognition, telemedicine and human-robot interaction.

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.

CSNK2B has recently been identified as the causative gene for Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). POBINDS is a rare neurodevelopmental disorder characterized by early-onset epilepsy, developmental delay, hypotonia, and dysmorphism. Limited by the scarcity of patients, the genotype-phenotype correlations in POBINDS are still unclear. In the present study, we describe the clinical and genetic characteristics of eight individuals with POBINDS, most of whom suffered developmental delay, generalized epilepsy, and hypotonia. Minigene experiments confirmed that two intron variants (c.367+5G>A and c.367+6T>C) resulted in the skipping of exon 5, leading to a premature termination of mRNA transcription. Combining our data with the available literature, the types of POBINDS-causing variants included missense, nonsense, frameshift, and splicing, but the variant types do not reflect the clinical severity. Reduced casein kinase 2 holoenzyme activity may represent a unifying pathogenesis. We also found that individuals with missense variants in the zinc finger domain had manageable seizures (p = 0.009) and milder intellectual disability (p = 0.003) than those with missense variants in other domains of CSNK2B. This is the first study of genotype-phenotype correlations in POBINDS, drawing attention to the pathogenicity of intron variants and expanding the understanding of neurodevelopmental disorders.

Near-infrared surface plasmon resonance sensor with a graphene-gold surface architecture for ultra-sensitive biodetection.

Binding behaviors of proteins are important for applications in the field of biochemistry. Though a standard assay has a favorable limit of detection (LOD), it is mainly limited to indirect observation via fluorescence labeling. We reported and demonstrated a novel label-free sensing approach based on a near-infrared (NIR) surface plasmon resonance (SPR) sensing chip modified with a graphene-gold surface architecture in this paper. The NIR excitation wavelength can greatly improve the sensitivity of SPR sensing derived from the wavelength modulation-based methodology. Moreover, benefiting from the excellent electro-optical properties of graphene in NIR range, the graphene-gold surface architecture was built to further improve the sensing sensitivity. Experimental results proved the superiority over most of those reported previously in terms of ultra-sensitivity (39,160 nm/RIU) and resolution (5.107 × 10-7 RIU). We detected human immunoglobulin G (IgG) to confirm the ability to enhanced-sensitive detection with a graphene overlayer. This sensor provides surface-specific detection schemes with a large linear dynamic range of ng/ml (pM) to fg/ml (aM) and a LOD of 7.2 fg/ml (48 aM) using gold nanoparticles (GNPs) as amplification labels. The proposed method provides a simple and effective strategy to improve sensitivity and LOD for biochemical detection in a rapid, ultrasensitive, and nondestructive manner.

Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.

BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental disorder, is featured by impaired social communication and restricted and repetitive behaviors and interests. ASD and comorbid neurodevelopmental disorders (ASD-NDDs), especially epilepsy and intellectual disability (ID)/global developmental delay (GDD) are frequently presented in genetic disorders. The aim of this study was to explore the clinical and genetic profile of ASD in combination with epilepsy or ID/GDD. METHODS: We retrospectively analyzed the clinical characteristics, and genetic spectrum of pediatric patients presenting ASD-NDDs with proven genetic etiology. The pathogenicity of variants was conducted by molecular geneticists and clinicians complied with the guidelines of the American College of Medical Genetics and Genomics (ACMG). RESULTS: Among 154 patients with ASD-NDDs, 79 (51.3%) patients gained a genetic diagnosis. Most patients (78/79, 98.7%) had comorbid ID or GDD, and 49 (49/79, 62.0%) had comorbid epilepsy. The clinical characteristics of those 79 patients were varied. 87 genetic variants were found among the 79 pedigrees. Most of the involved genes have roles in gene expression regulation (GER) and neuronal communication (NC). Most genes have been proven to be ASD-related genes, and some of them were not reported to contribute to ASD previously. CONCLUSION: We summarized the genetic and clinical profile of 79 ASD-NDDs patients with proven genetic etiology. The genetic spectrum of ASD was expanded, and we highlighted a novel possible ASD candidate gene PRTG.

Restoration of Sarco/Endoplasmic Reticulum Ca2+-ATPase Activity Functions as a Pivotal Therapeutic Target of Anti-Glutamate-Induced Excitotoxicity to Attenuate Endoplasmic Reticulum Ca2+ Depletion.

Glutamate-induced excitotoxicity is a pathological basis of many acute/chronic neurodegenerative diseases. Sarco/endoplasmic reticulum Ca2+-ATPase (SERCA2b) is a membrane-embedded P-type ATPase pump that manages the translocation of calcium ions (Ca2+) from cytosol into the lumen of the endoplasmic reticulum (ER) calcium stores. It participates in a wide range of biological functions in the central nervous system (CNS). However, the role of SERCA2b in glutamate-induced excitotoxicity and its mechanism must be elucidated. Herein, we demonstrate that SERCA2b mutants exacerbate the excitotoxicity of hypo-glutamate stimulation on HT22 cells. In this study, SERCA2b mutants accelerated Ca2+ depletion through loss-of-function (reduced pumping capacity) or gain-of-function (acquired leakage), resulting in ER stress. In addition, the occurrence of ER Ca2+ depletion increased mitochondria-associated membrane formation, which led to mitochondrial Ca2+ overload and dysfunction. Moreover, the enhancement of SERCA2b pumping capacity or inhibition of Ca2+ leakage attenuated Ca2+ depletion and impeded excitotoxicity in response to hypo-glutamate stimulation. In conclusion, SERCA2b mutants exacerbate ER Ca2+-depletion-mediated excitotoxicity in glutamate-sensitive HT22 cells. The mechanism of disruption is mainly related to the heterogeneity of SERCA2b mutation sites. Stabilization of SRECA2b function is a critical therapeutic approach against glutamate-induced excitotoxicity. These data will expand understanding of organelle regulatory networks and facilitate the discovery and creation of drugs against excitatory/inhibitory imbalance in the CNS.