Squamous cell carcinoma of ear and temporal bone: A retrospective study on clinicopathological predictors.

BACKGROUND: Ear and temporal bone squamous cell carcinoma (ETBSCC) is a rare and aggressive malignant tumor with minimal clinicopathological studies. The object of this study was to retrospectively evaluate the predictive effect of clinicopathological variables on the 5-year overall survival (OS) rate of ETBSCC patients in a single tertiary medical center in Tianjin, China. METHODS: A cohort of 44 patients with diagnosed ETBSCC from December 2012 to August 2022 were retrospectively studied. Univariate and multivariate analysis were, respectively, performed for the assessment of clinicopathological predictors, including sex, age, history of chronic suppurative otitis media (CSOM), lesion side, diameter, the choice of surgical approach, parotidectomy, neck dissection, adjuvant therapies, T stage, lymph node metastasis, tumor grade, margin, perineural invasion (PNI), and Ki-67 index. RESULTS: Seventeen females and 27 males were included, with the mean age of 65 years old, ranging from 36 to 89 years. The 5-year OS rate was 43% (mean 51 months, 95% confidence interval [CI] = 39-64). Significant prediction of a worse prognosis for 5-year OS rate was observed under univariate analysis for advanced T stage, positive margin, identified PNI, and higher Ki-67 index, respectively. Advanced T stage was confirmed to be an independent prognostic factor strongly affecting 5-year OS rate among this cohort of patients using a multivariate cox proportional hazard model. CONCLUSION: We found that clinicopathological parameters, especially postoperative pathological parameters, play a critical role in predicting the prognosis of ETBSCC patients.

Near-infrared fluorescent probe for detection of hydrogen sulfide in water samples and food spoilage.

Hydrogen sulfide (H2S) is a common toxic gas that threatens the quality and safety of environmental water and food. Herein, a new near-infrared fluorescent probe DTCM was synthesized and characterized by single crystal X-ray diffraction for sensing H2S. It exhibited a remarkable "turn-on" near-infrared (NIR) emission response at 665 nm with a remarkably massive Stokes shift of 175 nm, super-rapid detection ability (within 30 s), excellent photostability, high selectivity and sensitivity (limit of detection, LOD = 58 nM). Additionally, the probe was successfully utilized for the detection of H2S in environmental water samples. The DTCM-loaded test papers enabled convenient and real-time monitoring of H2S produced by food spoilage.

Analysis of the evolution of water culture and water security in the Weihe River Basin over a 100 year-period.

The significance of water culture in addressing water crises and ensuring water security has garnered considerable attention, emerging as a focal point in global change and water science research. Water culture is a societal adaptation to changes in hydrological systems. However, this needs to be acknowledged within contemporary discourse on water security governance. This study utilized historical policy document data from many sources, including local municipal records from Shaanxi and Gansu, and water conservancy records. It aimed to identify the significant nodes and stages of policy transformation in the Weihe River Basin (WRB) during the last century (1949-2020). This study employed a content analysis method to elucidate the evolutionary patterns of water culture in the study region during the previous century. Drawing on the co-evolution framework, our investigation delved into the reciprocal relationship between changes in water culture and the evolution of water security in the WRB. Our findings indicated that water culture transformation in the WRB has undergone four significant stages: the Disaster-Resistant Hydraulic (1949-1966), Irrigation Hydraulic (1967-1998), Resources Hydraulic (1999-2010), and Ecological Hydraulic (2011-2020) phases. Water security assessment showed that policy attention varied across the different stages. The disaster-resistant hydraulic phase primarily addressed water-related disaster concerns, whereas the irrigation hydraulic phase emphasized the scarcity of water resources. The resource hydraulic phase focused on ensuring the security of the water environment, while the ecological hydraulic phase placed emphasis on safeguarding water sustainability. Moreover, we found that prevailing water policies prioritize resolving isolated issues; however, water security is a multifaceted systemic matter that requires a comprehensive approach. This study has the potential to offer policy makers a more comprehensive and systematic perspective, enabling them to enhance their understanding of the underlying nature of the problems. Additionally, this study can assist in developing future water security policies.

Arabidopsis TETRASPANIN8 mediates exosome secretion and glycosyl inositol phosphoceramide sorting and trafficking.

Sphingolipids are components of plant membranes, and their heterogeneous distribution gives different membrane systems distinct properties. For example, glycosyl inositol phosphoceramides (GIPCs), 1 major type of sphingolipids, aggregate in the outer layer of the plasma membrane (PM), as well as in extracellular vesicles (EVs), including the small (30 to 100 nm) EVs termed exosomes. How these sphingolipids are sorted and trafficked is not clear. In this work, we report that Arabidopsis thaliana TETRASPANIN8 (TET8) acts as a sphingolipid carrier and thus regulates the export of GIPCs from the Golgi apparatus. TET8 recognized the coat protein complex I (COPI) subunit γ2-COPI and moved to its proper location in the PM; this recognition required the TET8 C-terminal tail. Deleting the C-terminal tail of TET8 largely restricted its roles in GIPC transport and endosomal trafficking. Further, we show that TET8 affects EV secretion in association with GIPCs. Thus, our findings shed light on GIPC transport and the molecular machinery involved in EV biogenesis.

A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.

PURPOSE: Disorders of sex development (DSD) have complex pathogenesis, and evidence suggests an association between MAMLD1 defects and DSD. MAMLD1 is expressed in gonadal tissues and affected males exhibit hypospadias, steroid hormone abnormalities, or gonadal underdevelopment. We performed genetic testing on a newborn patient with severe hypospadias and an elevation of 17-hydroxyprogesterone (17α-OH) for the diagnosis of DSD. METHODS: Genetic testing of the proband and parents was conducted using whole-exome and Sanger sequencing. The identified variant was transfected into HEK293T cells to assess mutant protein expression using western blot (WB) and into steroidogenic NCI-H295R cells to assess MAMLD1 and CYP17A1 transcript levels using qPCR. Molecular dynamics simulations were performed to construct a structural model and analyze potential biological implications. RESULTS: A novel heterozygous variant was identified in the proband's MAMLD1, NM_005491.5: c.1619_1637del (p.Gln540Alafs*72), inherited from the mother. In transfected cells, the wild-type and mutant proteins were 86.2 and 68.3 kDa, respectively, indicating the formation of a truncated protein. While MAMLD1 transcription was not affected, CYP17A1 transcription levels decreased with the variant compared to wild-type, suggesting an impact on the transactivation of CYP17A1. The truncated protein exhibited enhanced hydrophobicity, owing to the absence of the C-terminal structural portion, resulting in a looser protein structure. CONCLUSION: Severe hypospadias in the proband may be attributed to a novel MAMLD1 variant, whereas the 17α-OH elevation might be related to interference with CYP17A1 transcriptional activation. This study expands the spectrum of MAMLD1 variants and underscores the critical role of genetic testing in the diagnosis of DSD.

Expression and Role of PDK4 on Childhood Dyslipidemia and Lipid Metabolism in Hyperlipidemic Mice.

Hyperlipidemia is a common metabolic disorder that can lead to cardiovascular disease. PDK4 is a key enzyme that regulates glucose and fatty acid metabolism and homeostasis. The aim of this study is to explore the correlation between PDK4 expression and dyslipidemia in obese children, and to find new therapeutic targets for hyperlipidemia in children. The expression of PDK4 in serum was detected by qRT-PCR. Receiver operating characteristic curve was used to analyze the relationship between PDK4 and dyslipidemia. Upstream miRNAs of PDK4 were predicted by the database and verified by dual luciferase reporter gene assay and detected by qRT-PCR. The hyperlipidemia mouse model was established by high-fat diet (HFD) feeding, and the metabolic disorders of mice were detected. PDK4 is poorly expressed in the serum of obese children. The upstream of PDK4 may be inhibited by miR-107, miR-27a-3p, and miR-106b-5p, which are highly expressed in the serum of obese children. Overexpression of PDK4 improves lipid metabolism in HFD mice. miR-27a-3p silencing upregulates PDK4 to improve lipid metabolism. In conclusion, PDK4 has a diagnostic effect on dyslipidemia in children, while lipid metabolism in hyperlipidemic mice could be mitigated by upregulation of PDK4, which was inhibited by miR-107, miR-27a-3p and miR-106b-5p on upstream.

Clinical Presentation and Genetic Analysis of Neonatal 11ß-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene.

In terms of prevalence, 11ß-hydroxylase deficiency (11ß-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11ß-OHD has been attributed to diminished enzymatic activity owing to CYP11B1 gene variants, mainly encompassing single nucleotide variations and insertions-deletions. The involvement of chimeric CYP11B2/CYP11B1 genes in 11ß-OHD has been rarely reported. We conducted a genetic investigation on a male infant with generalized pigmentation and abnormal steroid hormone levels. Whole-exome sequencing revealed a heterozygous variant in CYP11B1 inherited from the mother (NM_000497.4: c.1391_1393dup [p.Leu464dup]). Long-range polymerase chain reaction revealed an additional allele, a chimeric CYP11B2/CYP11B1 gene, inherited from the father. The current case report emphasizes the need to consider the occurrence of gene fusion variants in the diagnosis of neonatal or early infantile 11ß-OHD.

Development of europium(III) complex fluorescent probe for hydrogen sulfide detection and its application in water samples.

Hydrogen sulfide (H2 S) is a crucial endogenous signaling component in organisms that is involved in redox homeostasis and numerous biological processes. Modern medical research has confirmed that hydrogen sulfide plays an important role in the pathogenesis of many diseases. Herein, a fluorescent probe Eu(ttbd)3 abt based on europium(III) complex was designed and synthesized for the detection of H2 S. Eu(ttbd)3 abt exhibited significant quenching for H2 S at long emission wavelength (625 nm), with rapid detection ability (less than 2 min), high sensitivity [limit of detection (LOD) = 0.41 µM], and massive Stokes shift (300 nm). Additionally, this probe showed superior selectivity for H2 S despite the presence of other possible interference species such as biothiols. Furthermore, the probe Eu(ttbd)3 abt was successfully applied to detect H2 S in water samples.

Endocytosis-mediated entry of a caterpillar effector into plants is countered by Jasmonate.

Insects and pathogens release effectors into plant cells to weaken the host defense or immune response. While the imports of some bacterial and fungal effectors into plants have been previously characterized, the mechanisms of how caterpillar effectors enter plant cells remain a mystery. Using live cell imaging and real-time protein tracking, we show that HARP1, an effector from the oral secretions of cotton bollworm (Helicoverpa armigera), enters plant cells via protein-mediated endocytosis. The entry of HARP1 into a plant cell depends on its interaction with vesicle trafficking components including CTL1, PATL2, and TET8. The plant defense hormone jasmonate (JA) restricts HARP1 import by inhibiting endocytosis and HARP1 loading into endosomes. Combined with the previous report that HARP1 inhibits JA signaling output in host plants, it unveils that the effector and JA establish a defense and counter-defense loop reflecting the robust arms race between plants and insects.

Plasma membrane association and resistosome formation of plant helper immune receptors.

Intracellular plant immune receptors, termed NLRs (Nucleotide-binding Leucine-rich repeat Receptors), confer effector-triggered immunity. Sensor NLRs are responsible for pathogen effector recognition. Helper NLRs function downstream of sensor NLRs to transduce signaling and induce cell death and immunity. Activation of sensor NLRs that contain TIR (Toll/interleukin-1receptor) domains generates small molecules that induce an association between a downstream heterodimer signalosome of EDS1 (EnhancedDisease Susceptibility 1)/SAG101 (Senescence-AssociatedGene 101) and the helper NLR of NRG1 (NRequired Gene 1). Autoactive NRG1s oligomerize and form calcium signaling channels largely localized at the plasma membrane (PM). The molecular mechanisms of helper NLR PM association and effector-induced NRG1 oligomerization are not well characterized. We demonstrate that helper NLRs require positively charged residues in their N-terminal domains for phospholipid binding and PM association before and after activation, despite oligomerization and conformational changes that accompany activation. We demonstrate that effector activation of a TIR-containing sensor NLR induces NRG1 oligomerization at the PM and that the cytoplasmic pool of EDS1/SAG101 is critical for cell death function. EDS1/SAG101 cannot be detected in the oligomerized NRG1 resistosome, suggesting that additional unknown triggers might be required to induce the dissociation of EDS1/SAG101 from the previously described NRG1/EDS1/SAG101 heterotrimer before subsequent NRG1 oligomerization. Alternatively, the conformational changes resulting from NRG1 oligomerization abrogate the interface for EDS1/SAG101 association. Our data provide observations regarding dynamic PM association during helper NLR activation and underpin an updated model for effector-induced NRG1 resistosome formation.

[Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene].

OBJECTIVE: To explore the clinical feature and genetic etiology of a patient with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) due to variant of CHD7 gene. METHODS: A patient who had presented at Anhui Provincial Children's Hospital in October 2022 was selected as the study subject. Clinical data of the patient was collected. The patient and his parents were subjected to trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The patient had featured delayed development of secondary sexual characteristics but normal olfactory function. Genetic testing revealed that he has harbored a c.3052C>T (p.Pro1018Ser) missense variant of the CHD7 gene, for which both of his parents were of the wild type. The variant has not been recorded in the PubMed and HGMD databases. Analysis of amino acid sequences suggested that the variant site is highly conserved, and the variant may affect the stability of protein structure. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.3032C>T variant was classified as a likely pathogenic (PS2+PM2_Supporting+PP2+PP3+PP4). CONCLUSION: The delayed development of secondary sexual characteristics of the patient may be attributed to the c.3052C>T (p.Pro1018Ser) variant of the CHD7 gene. Above finding has expanded the variation spectrum of the CHD7 gene.

Selective autophagy regulates chloroplast protein import and promotes plant stress tolerance.

Chloroplasts are plant organelles responsible for photosynthesis and environmental sensing. Most chloroplast proteins are imported from the cytosol through the translocon at the outer envelope membrane of chloroplasts (TOC). Previous work has shown that TOC components are regulated by the ubiquitin-proteasome system (UPS) to control the chloroplast proteome, which is crucial for the organelle's function and plant development. Here, we demonstrate that the TOC apparatus is also subject to K63-linked polyubiquitination and regulation by selective autophagy, potentially promoting plant stress tolerance. We identify NBR1 as a selective autophagy adaptor targeting TOC components, and mediating their relocation into vacuoles for autophagic degradation. Such selective autophagy is shown to control TOC protein levels and chloroplast protein import and to influence photosynthetic activity as well as tolerance to UV-B irradiation and heat stress in Arabidopsis plants. These findings uncover the vital role of selective autophagy in the proteolytic regulation of specific chloroplast proteins, and how dynamic control of chloroplast protein import is critically important for plants to cope with challenging environments.

A novel predictive model of microvascular invasion in hepatocellular carcinoma based on differential protein expression.

BACKGROUND: This study aims to construct and verify a nomogram model for microvascular invasion (MVI) based on hepatocellular carcinoma (HCC) tumor characteristics and differential protein expressions, and explore the clinical application value of the prediction model. METHODS: The clinicopathological data of 200 HCC patients were collected and randomly divided into training set and validation set according to the ratio of 7:3. The correlation between MVI occurrence and primary disease, age, gender, tumor size, tumor stage, and immunohistochemical characteristics of 13 proteins, including GPC3, CK19 and vimentin, were statistically analyzed. Univariate and multivariate analyzes identified risk factors and independent risk factors, respectively. A nomogram model that can be used to predict the presence of MVI was subsequently constructed. Then, receiver operating characteristic (ROC) curve, calibration curve, and decision curve analysis (DCA) were conducted to assess the performance of the model. RESULTS: Multivariate logistic regression analysis indicated that tumor size, GPC3, P53, RRM1, BRCA1, and ARG were independent risk factors for MVI. A nomogram was constructed based on the above six predictors. ROC curve, calibration, and DCA analysis demonstrated the good performance and the clinical application potential of the nomogram model. CONCLUSIONS: The predictive model constructed based on the clinical characteristics of HCC tumors and differential protein expression patterns could be helpful to improve the accuracy of MVI diagnosis in HCC patients.

Comparison of fine-needle aspiration and core-needle biopsy in the pathological evaluation on thyroid lesions: A single-center experience on 407 Chinese patients.

BACKGROUND: The object of this study was to compare the diagnosis performance of US-guided fine-needle aspiration (FNA) and core-needle biopsy (CNB) for patients with thyroid nodules, in aspects of sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV). MATERIALS AND METHODS: Four hundred seven Chinese patients from July 2019 to June 2022 were retrospectively recruited in this study. Cytological diagnoses were categorized into six categories based on the 2017 Bethesda System for Reporting Thyroid Cytopathology (BSRTC), and histological specimens were drawn a diagnosis by means of an analogy with the Bethesda system. RESULTS: All patients incorporated were proceed with surgical excision (SE) and received final surgical diagnoses. The rate of malignancy (ROM) was comparable between two methods, with the exception that the test-negative category of the FNA group was significantly higher than that of the CNB group (39.25% vs. 23.86%, p = .022). Sensitivity and accuracy were higher in CNB group (82.50% and 87.83%, respectively) than that in FNA group (72.00% and 79.36%, respectively), as well as NPV (76.14% in CNB vs. 60.75% in FNA), but not in terms of the specificity and PPV (95.59% and 97.30% in FNA vs. 97.10% and 98.02% in CNB). CONCLUSION: CNB displayed a higher sensitivity and accuracy than FNA in malignant lesions of thyroid. Both FNA and CNB exhibit excellent performance with the understanding that both need to be applied under the most appropriate conditions to maximize their benefits.

Comparison of the Efficacy of Different Insulin Administration and Blood Glucose Monitoring Methods in the Treatment of Type 1 Diabetes Mellitus in Children.

Objective: To compare the clinical efficacy of different insulin administration methods and blood glucose monitoring methods in treating type 1 diabetes mellitus in children. Methods: Patients were divided into four groups: multiple daily injection (MDI) + fingertip blood glucose detection, continuous subcutaneous insulin infusion (CSII) + fingertip blood glucose detection, MDI + continuous glucose monitoring system (CGMS), and CSII + CGMS. After six months of treatment, followed by telephone and at least once a month in an outpatient clinic, insulin doses were adjusted according to the children's blood glucose levels. Blood glucose control and the daily dose of insulin were compared among the four groups after treatment, and the incidence of hypoglycemia in each group was recorded during the treatment. We also compare the incidence of the adverse event among the four groups. Results: 6 months later, the levels of HbA1c, FBG, and two h PG in each group were lower than those before treatment. There were significant differences in HbA1c, two h PG, and the daily insulin dose among the four groups. There were differences in the frequency of hypoglycemia among all the groups. The frequency of hypoglycemia in groups C and D was lower than in group A. Conclusions: CSII was better than MDI, and the blood glucose monitoring effect of CGMS was better than the fingertip blood glucose detection. The patients treated with CSII combined with CGMS had the best clinical efficacy. The patients treated with CSII combined with CGMS had the lowest adverse events incidence.

Clinical data analysis of 22 cases with hypoparathyroidism misdiagnosed as epilepsy.

OBJECTIVE: Patients with hypoparathyroidism always present with recurrent tetany caused by hypocalcemia. These patients are usually misdiagnosed with epilepsy and incorrectly treated with anti-epileptic drugs. This research analyzed clinical data about 22 patients with hypoparathyroidism misdiagnosed as epilepsy and summarized the clinical experience for reducing misdiagnosis and incorrect therapy about hypoparathyroidism. METHOD: Totally 160 patients with hypoparathyroidism, administrated to the First Medical Center of Chinese PLA General Hospital from January 1st, 2008, to July 1st, 2021, were enrolled in this report. Clinical data about 22 patients initially misdiagnosed with epilepsy were analyzed. RESULTS: Of the 160 cases with hypoparathyroidism, 22 patients (12 males and 10 females) were misdiagnosed with epilepsy in local hospitals. The misdiagnosis rate was 13.75% and the median duration of misdiagnosis was 8.0 (2.0, 14.8) years. The clinical manifestations of the 22 patients misdiagnosed as epilepsy included tetany 81.8% (18/22), disturbance of consciousness 27.3% (6/22), limb numbness 13.6% (3/22), limb weakness 27.3% (6/22), mental and behavioral abnormality 9.1% (2/22), and memory impairment 13.6% (3/22), etc. Electroencephalogram (EEG) was performed in 9 cases, which presented as slow wave and spike-slow complex wave in 3 cases, slowing down of Î¸ and δ band background in 2 cases and normal EEG in 4 cases. Out of the 15 cases that underwent head computed tomography (CT) scan, in which 13 cases had intracranial calcification. Anti-epileptic drugs were used to treat 22 patients, of which 17 patients were treated with two kinds of drugs. With calcium and calcitriol supplement in all these 22 patients, the anti-epileptic drugs were gradually reduced and withdrawn in 17 cases. In the other 5 cases with secondary epilepsy, the type of anti-epileptic drugs was reduced to one and the clinical condition improved obviously. CONCLUSION: The clinical manifestations of hypoparathyroidism are complex and usually be misdiagnosed as primary epilepsy. Detection of serum calcium, phosphorus and parathyroid hormone is very important to avoid misdiagnosis and incorrect therapy about hypoparathyroidism.

A highly selective colorimetric and fluorescent probe Eu(tdl)2abp for H2S sensing: Application in live cell imaging and natural water.

Using 4-([2,2': 6', 2'- terpyridin] -4'-yl) -N, N-dimethylaniline (tdl) as auxiliary ligand and 6-azido-2,2'-bipyridine (abp) as recognition ligand, a europium complex fluorescent probe Eu(4-([2,2': 6', 2'-terpyridin] -4' -yl) -N, N-dimethylaniline)2-6-azido-2,2'-bipyridine Eu(tdl)2abp for efficient and specific recognition of hydrogen sulfide (H2S) was successfully synthesized and characterized by NMR and MS. Eu(tdl)2abp represented "on-off" fluorescence signals for H2S and its color changes could be identified with naked eyes. Eu(tdl)2abp had short response time (2 min) to H2S, high selectivity and good anti-interference, large stokes shift (207 nm). In various samples, when H2S existed, the azide group was reduced to amine group, resulting in closed fluorescence signal, and the fluorescence intensity reached the degree of quenching without being affected by other interference. At the same time, there was a good linear relationship between relative fluorescence intensity and H2S concentration with the detection limit (LOD) of 0.64 µM. The sensing mechanism of Eu(tdl)2abp to detect H2S was characterized by 1H NMR and HR-MS. Eu(tdl)2abp was used with success for the sensitive detection of H2S in natural water and living cells.

Temporal and Spatial Variation and Driving Forces of Soil Erosion on the Loess Plateau before and after the Implementation of the Grain-for-Green Project: A Case Study in the Yanhe River Basin, China.

To curb soil erosion, the Grain-for-Green Project has been implemented in the Loess Plateau region, and there have been few quantitative evaluations of the impact of ecological engineering on the spatial distribution of soil erosion on the Loess Plateau. In this paper, we used ArcGIS software, the Revised Universal Soil Loss Equation (RUSLE) model and the Geographic Detector (GeoDetector) model to investigate the changes in the spatial distribution of soil erosion and driving forces before and after the implementation of the Grain-for-Green Project in Yanhe River Basin, a typical area on the Loess Plateau. After the implementation of the Grain-for-Green Project, the soil erosion showed a decreasing trend over time and from local improvement to global optimization in space. The implementation of the Grain-for-Green Project led to changes in the dominant driving force of the spatial distribution of soil erosion, with the dominant driving force changing from the slope factor to the vegetation coverage factor. The main driving force of the two-factor interaction on soil erosion spatial differentiation changed from the slope factor and other factors to the vegetation coverage and other factors. The Grain-for-Green Project mainly influenced soil erosion by increasing the vegetation cover. The effect of the Grain-for-Green Project on the spatial distribution of soil erosion had hysteresis and spatial differences, and the direct and indirect driving forces generated by ecological engineering reached more than 50% on average.

[Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation].

OBJECTIVE: To investigate the clinical characteristics and genetic basis for a child with Keppen-Lubinsky syndrome (KPLBS). METHODS: Trio-whole exome sequencing (Trio-WES) was carried out for the proband and her parents. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child has featured peculiar facies including large eyes, alar hypoplasia, microretrognathia, premature aging appearance in addition with growth delay and mental retardation. Trio-WES has identified that she has carried a de novo variant of the KCNJ6 gene, namely c.460G>C (p.Gly154Arg). The variant has not been recorded in the database. Prediction of protein structure indicated that the variant may affect the potassium ion selective filtration structure channel in the transmembrane region of KCNJ6 protein, which may result in up regulation of the function of the channel. CONCLUSION: The de novo c.460G>C (p.Gly154Arg) variant of the KCNJ6 gene probably underlay the KPLBS in this child. Above finding has enriched the genotypic and phenotype spectrum of this syndrome.

Nonlinear error full-field compensation method for phase measuring profilometry.

Phase measuring profilometry (PMP) has the highest measuring accuracy among structured light projection-based three-dimensional (3D) sensing methods. Due to their low-cost and high-resolution features, commercial projectors are extensively used in PMP, but they are all designed with a gamma effect purpose that considers the characteristics of human vision. Affected by the gamma effect, a set of phase-shifting sinusoidal deformed patterns captured in PMP may contain high-order harmonics which lead to nonlinear phase errors. Then, a novel nonlinear error full-field compensation method is proposed. First, the unwrapped phases modulated by the reference plane are measured several times, and their average phase is taken as the measured phase modulated by the reference plane to eliminate random errors as much as possible. Second, an expected phase plane is fitted from this average phase with the least-squares method. Third, the nonlinear phase error can be detected by subtracting the fitted expected phase from this average phase. Finally, the full-field look-up table (LUT) can be established between the nonlinear phase error and the measured phase. When an object is measured, the unwrapped phase modulated by the object is taken as the measured phase of the LUT, so the corresponding nonlinear phase error can be directly searched in the LUT. In this way, the full-field nonlinear phase error can be efficiently compensated. Experimental results show the feasibility and validity of the proposed method. The mean absolute error (MAE) can be improved from 0.48 mm to 0.06 mm, and the root mean square error (RMSE) can be improved from 0.55 mm to 0.07 mm.