ABSTRACT
Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing "inward turning of the feet", a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient's medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.
ABSTRACT
Over the years, the various mediums available for storytelling have progressively expanded, from spoken to written word, then to film, and now to Virtual Reality (VR) and Augmented Reality (AR). In 2016, the cutting-edge Head-Mounted Display (HMD) AR Microsoft HoloLens was released. However, though it has been several years, the quality of the user experience with narration using HMD-based AR technology has been rarely discussed. The present study explored interactive narrative in HMD-based AR regarding different user interfaces and their influence on users' presence, narrative engagement and reflection. Inspired by an existing exhibition at the National Holocaust Centre and Museum in the U.K., a HoloLens narrative application, entitled The AR Journey, was developed by the authors using two different interaction methods, Natural User Interface (NUI) and Graphical User Interface (GUI), which were used to perform an empirical study. As revealed from the results of the between-subject design experiment, NUI exhibited statistically significant advantages in creating presence for users without 3D Role Playing Game (RPG) experience, and GUI was superior in creating presence and increasing narrative engagement for users with 3D RPG experience. As indicated by the results of the interviews, the overall narrative experience in HMD-based AR was acceptable, and the branching narrative design was engaging. However, HoloLens hardware issues, as well as virtuality and reality mismatch, adversely affected user experience. Design guidelines were proposed according to the qualitative results. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s11042-021-11723-0.
ABSTRACT
The aim of the present study was to investigate the expression and biological functions of microRNA (miR)-138 in ovarian cancer at the tissue and cellular levels, as well as its underlying mechanisms. A total of 47 patients with ovarian cancer were included in the present study. Ovarian cancer tissues were subjected to staging classification according to the FIGO 2000 criteria. Lymphatic metastasis was also examined. Ovarian cancer A2780 cells were transfected using liposomes. Reverse transcription-quantitative polymerase chain reaction was used to measure the expression of miR-138. A Cell-Counting Kit 8 assay was used to examine cell viability, while a Transwell assay was employed to study cell invasion and migration. The effects of miR-138 on SOX12 protein expression were examined by western blot analysis. A dual luciferase reporter assay was performed to identify the direct interaction between miR-138 and SOX12 gene. Expression of miR-138 was downregulated in ovarian cancer tissues. The level of miR-138 in patients with ovarian cancer with lymphatic metastasis was significantly lower compared with patients without lymphatic metastasis. However, expression of miR-138 was not associated with the stage of ovarian cancer. Upregulation of miR-138 inhibited the proliferation and suppressed the invasion and migration of A2780 cells. SOX12 promoted the proliferation, invasion and migration of A2780 cells. In addition, miR-138 downregulated the expression of SOX12 via binding with the 3'-UTR of SOX12 gene. The present study demonstrates that miR-138 expression is downregulated in ovarian cancer tissues and miR-138 acts as a tumor suppressor gene by inhibiting SOX12 expression and the proliferation, invasion and migration of ovarian cancer cells.
ABSTRACT
Through the measurement of the spectral reflectance of large areas Chinese pine (Pinus tabulaeformis Carr. ) canopy in western Liaoning Province, this paper analyzed the difference of the spectral reflectance of the canopies with different damaged rates of needle leaf. In visible band, the characteristics of the spectral reflectance of P. tabulaeformis canopies with healthy and damaged needle leaf were in accordance with the spectral characteristics of green plants, but the position of red valley was not obvious when the damaged rate of needle leaf was higher than 60%. In near-infrared band, with the decrease of the damaged rate of needle leaf, the canopy spectral reflectance increased at 780-1350 nm, but decreased at 1450-1800 and 1950-2350 nm. With the increase of the damaged rate, the position of red-edge inflection moved to the short-wave direction. There were significant correlations between the damaged rate of needle leaf and the red edge feature variables and some vegetation indices. The model based on DVI (1470, 860) could be more reliable for predicting the damaged rate of needle leaf in P. tabulaeformis canopy in western Liaoning Province.
Subject(s)
Pinus/growth & development , Pinus/parasitology , Plant Leaves/parasitology , China , Plant Diseases/prevention & control , Remote Sensing Technology , Spectrum AnalysisABSTRACT
Taking spring maize variety Danyu-39 as test object, an experiment was conducted in a large-scale agricultural water controlling experimental field to study the impacts of drought stress at three key growth stages, i. e. , 3-leaf-jointing, jointing-silking, and silking-milk ripe, on the growth and development and grain yield of spring maize in Northeast China. Two treatments were installed, including moderate drought stress (MS) and re-watering to suitable water (CK). Compared with CK, the MS at 3-leaf-jointing stage postponed the whole growth period of Danyu-39 by 13 d, and the plant height and leaf area at jointing stage were decreased by 29.8% and 41.2%, respectively. After re-watering, the plant height and grain yield recovered obviously, and the differences in ear characteristics and final yield were insignificant. The MS at jointing-silking stage shortened the whole growth period by 7 d, the plant height and leaf area at silking stage were decreased by 18.6% and 14.1%, respectively, the ear length, grain number per ear, ear dry mass, and grain mass per ear decreased by 6.9%, 19.1%, 28.1%, and 29.4%, respectively, and the blank stem rate increased by 13.3%. When the maize suffered from moderate drought stress at silking-milk ripe stage, the whole growth period was shortened by 15 d, the plant height and leaf area at milk ripe stage were decreased by 2.3% and 37.3%, respectively, the ear length, grain number per ear, ear dry mass, and grain mass per ear decreased by 9.2%, 24.1%, 30.8%, and 27.9%, respectively, and the blank stem rate increased by 24.5%. After re-watering at the latter two stages, the recovery of plant height was little, and the grain yield decreased significantly.
