Software-based Analysis Research Articles

Design and analysis of magnetorheological damper based ankle-foot prosthesis prototype

PurposeThis paper aims to design and analyze a controlled magnetorheological damper-based ankle-foot prosthesis prototype.Design/methodology/approachThe ankle-foot prostheses prototype is proposed using the lightweight three dimensional (3 D)-printed parts, MR damper and digital servomotor. Initially, the computer-aided design (CAD) model of the prosthetic foot, leaf spring, retention spring and the various connecting parts required to connect the pylon and damper actuator assemblies are designed using CAD software. Later, the fused deposition modeling 3 D printer-based technique prints a prosthetic foot and other connecting parts using Acrylonitrile Butadiene Styrene filament. The prototype consists of two control parts: the first part controls the MR actuator that absorbs the impacts during walking. The second part is the control of the electric actuator intended to generate the dorsiflexion and plantar flexion movements. Finally, the prototype is tested on a transtibial amputee under the supervision of a prosthetist.FindingsThe ANalysis SYStems software-based analysis has shown that the prosthetic foot has a factor of safety values between 4.7 and 8.7 for heel strike, mid-swing and toe-off; hence, it is safe from mechanical failure. The designed MR damper-based ankle-foot prosthesis prototype is tested on an amputee for a level-ground walk; he felt comfortable compared to his passive prosthesis.Originality/valueThe design of an MR damper-based prosthesis prototype offers a better dynamic range for locomotion than passive prostheses. It reduces the injuries and provides relief to the transtibial amputees.

PELATIHAN PENGOLAHAN DATA PENELITIAN BERBASIS SOFTWARE STATISTIK UNTUK MAHASISWA di JABOTABEK

This service is carried out on the basis of statistics which is considered a difficult science because there are many formulas that require accuracy and precision in their calculations. As well as the many problems of students' inability to access data processing software caused by the low level of literacy in students. This service is a training activity for data processing research based on statistical software that aims to improve the quality of human resources through the ability of students to process research data. The partners of this service are universities around BODETABEK with a focus on training activities on statistical software-based data analysis techniques such as SPSS and JASP for final year students at BODETABEK. The methods used in this training activity include lectures, discussions, questions and answers, direct demonstrations and assignments. These methods were developed according to the current situation and conditions. The target to be achieved in the implementation of this activity is to improve the ability of students to carry out data analysis with the help of software such as SPSS and JASP. In addition, as an output, coaching participants are expected to be able to use SPSS and JASP software in thesis and research which can then be uploaded

18F-Choline PET/CT, MRI, and Software-Based Image Fusion Analysis in Patients With Primary Hyperparathyroidism.

The aim of this study was to evaluate the diagnostic performance of 18F-choline PET and MRI in patients with primary hyperparathyroidism. Furthermore, the additional value of software-based PET/MRI scan fusion was analyzed. This retrospective study includes 42 patients (38 women) with an age between 32.5 and 79.1 years. PET/CT scans were performed on a dedicated system after injection of 250 to 350 MBq 18F-choline. For the MRI examination, T1-weighted images of the cervical region were used. The image fusion was made by anatomical coregistration using an automated algorithm based on mutual information. A total of 46 lesions were discovered and histologically confirmed in 42 patients. Histopathological examination revealed 38 adenomas and 8 hyperplasias. This means that, in 4 of these 42 patients, 2 lesions per patient were discovered. PET/CT also detected 46 abnormal findings, but only 43 were correctly recognized, whereas the other 3 were false-positive (FP). Six lesions could not be detected correctly: 3 were FP and 3 false-negative, which resulted in a sensitivity of 93.5% and a specificity of 97.5%. The site-specific evaluation showed 18 true-positive enlarged parathyroid glands with MRI, but also produced 13 FP findings and failed to detect 28 lesions; the sensitivity and specificity are thus 39.1% and 89.3%, respectively. The difference in detection rate between 18F-choline PET/CT and MRI was statistically significant (P < 0.001). 18F-choline PET/CT is clearly superior to MRI for localization diagnostics in primary hyperparathyroidism. Image fusion of both modalities can be helpful for more precise anatomical assignment.

Fluorescence-Based Quantitative and Spatial Analysis of Tumour Spheroids: A Proposed Tool to Predict Patient-Specific Therapy Response.

Tumour spheroids are widely used to pre-clinically assess anti-cancer treatments. They are an excellent compromise between the lack of microenvironment encountered in adherent cell culture conditions and the great complexity of in vivo animal models. Spheroids recapitulate intra-tumour microenvironment-driven heterogeneity, a pivotal aspect for therapy outcome that is, however, often overlooked. Likely due to their ease, most assays measure overall spheroid size and/or cell death as a readout. However, as different tumour cell subpopulations may show a different biology and therapy response, it is paramount to obtain information from these distinct regions within the spheroid. We describe here a methodology to quantitatively and spatially assess fluorescence-based microscopy spheroid images by semi-automated software-based analysis. This provides a fast assay that accounts for spatial biological differences that are driven by the tumour microenvironment. We outline the methodology using detection of hypoxia, cell death and PBMC infiltration as examples, and we propose this procedure as an exploratory approach to assist therapy response prediction for personalised medicine.

Research on High Voltage Online Monitoring System for Dielectric Loss of Capacitive Equipment in Substation

The paper introduces the principle of on-line monitoring of the dielectric loss factor of capacitive equipment and the composition of the monitoring system. It explains the software-based mathematical analysis method and harmonic analysis method, and uses DSP for digital filtering. At the same time, the paper establishes an intelligent auxiliary monitoring terminal in the substation, uses the equipment ADP+ equipment protocol library to dynamically connect to various auxiliary monitoring equipment, uses signal frequency conversion sampling, alarm recording and other acquisition strategies to extract key equipment operation information, and hierarchically redundant storage data. Improve the real-time monitoring level of operating equipment and reduce the cost of operation and maintenance.

Prevalence of energy drink consumption and association with dietary habits among governmental university students in Riyadh.

To determine the prevalence of Energy Drinks (ED) consumption, and the adverse effects experienced by consumers among governmental university students in Riyadh, and to assess the relationship between ED consumption and dietary habits. This is a cross-sectional study carried out in 2020 in a random sample of students at government universities in Riyadh (King Saud University (KSU) and Imam Muhammad Ibn Saud Islamic University (IMSIU). The study was conducted within a time frame of 3 months which included a total of 546 students. The data collection tool was an online self-administered questionnaire that included three sections. The first section addressed the characteristics of the students, the second section addressed ED consumption, and the third section addressed the dietary habits of ED consumers. A SPSS software-based analysis revealed that the percentage of ED consumers in our cohort was 29.3%. Moreover, we found a significant association between ED consumption and consumption of fewer than three meals, skipping breakfast, and fast food intake (χ2 = 0.002, P = 0.364; χ2 = 0.028, P = 0.341; and (χ2 = 0.010, P = 0.369, respectively), with moderate correlation. No association was found between the consumption of EDs and that of fruits, vegetables, and snacks. Moreover, 36% of the consumers experienced jolt-and-crash symptoms and signs after ED consumption, with 84.5% of them exhibiting increased consumption of salty snacks, sweets, and fast food during the episodes. Our findings showed that ED consumption is not a common practice among governmental university students in Riyadh. Furthermore, the consumption of EDs was correlated with unhealthy dietary habits. Creating educational programs for school going students and providing healthy alternative options to the students is highly recommend. Future research should be conducted using a larger sample and including universities from the private sector, to compare the results.

Single nucleotide polymorphisms of leptin gene in five Ethiopian indigenous cattle breeds and the Korean Hanwoo breed.

Considering the escalating number of scientific reports on the association between the leptin gene and diverse physiological traits and performance of cattle populations, this study was directed towards identifying SNPs in the leptin gene among five indigenous cattle breeds of Ethiopia. DNA samples were extracted from the nasal swabs of the Ethiopian indigenous cattle breeds: Arsi (n = 18), Horro (n = 20), Begait (n = 21), Boran (n = 19), and Fogera (n = 17) and the Korean Hanwoo (a representative taurine breed) (n = 20), followed by PCR amplification of exon 2 and exon 3 regions of the leptin gene and sequence analysis of the PCR products. Five SNPs, two (generating missense mutations) on exon 2 and three (generating silent mutations) on exon 3 regions, were explicated in this study. Allele frequency and genotype frequency distribution pertaining to the SNPs were recorded for the studied cattle breeds besides the minor allele frequency and deviation from the Hardy-Weinberg equilibrium. Positive FIS index values were recorded for all the markers except SNP2, illustrative of heterozygote deficiency. MEGA X software-based evolutionary divergence analysis of the phylogenetic tree based on the SNP data revealed that the large-sized breeds, Hanwoo, Begait, Boran, and Fogera, were more closely clustered compared to the small-sized Arsi breed. Among the seven haplotypes documented from the various breeds, sequence analysis was suggestive of haplotypes 1 and 2 to be ancestral haplotypes for the leptin gene. This study is envisaged to accelerate molecular breeding programs for the genetic improvement of the Ethiopian cattle breeds.

Pre-implementation assessment for introducing direct load control strategies in the residential electricity sector

Demand response (DR) programs are getting wide acceptance among consumers in different parts of the world, and many utility establishments are looking for adopting such programs to meet the growing electricity demand. This paper discusses major focus areas to be considered while planning for introducing direct load control (DLC), one of the popular DR programs, by various stakeholders around the world. One of today's most extensively employed qualitative analytical tools, content analysis, was used in this study. The systematic software-based content analysis procedure followed in this study can be used as a reference for conducting similar studies in any frontier of science. The implementation strategy of DLC around the world was analyzed, and information related to different parameters, such as benefits, challenges, type of load, channels for awareness/marketing, implementation requirements, evaluation methods, and reasons for failure, was discussed in detail. The results of this research have far-fetching implications in effective policy designs for integrated energy planning to implement appropriate projects for sustainable developments. Based on the results, a conditional analysis was carried out to explore the feasibility of introducing DLC in Kuwait, which is one of the highest per capita electricity consuming countries in the world. Two widely used loads, such as air-conditioning units and water heaters, are identified as suitable loads for targeting DLC in Kuwait. These two loads account for a load share of 83% in the residential sector, which consumes 60% of electricity produced in the country. An action plan for implementing the suggested program for a pilot project also presented.

Software-Based Analysis of the Taller-Than-Wide Feature of High-Risk Thyroid Nodules.

Shape is one of the most important features in the diagnosis of malignant thyroid nodules. This characteristic has been described qualitatively, but only shapes that appear markedly different can be easily differentiated at first interpretation. This study sought to clarify whether software-based shape indexes are useful for the detection of thyroid cancers. In the final analysis, 200 participants with 231 pathologically proven nodules participated in the study. Ultrasound features were assessed by clinicians. The tumor contour was auto-defined, and shape indexes were calculated using commercial software. Of the 231 nodules, 134 were benign and 97 were malignant. The presence of taller-than-wide (TTW) dimensions differed significantly between the benign and malignant thyroid tumors. Designation of TTW assessed by the software had a higher kappa value and proportional agreement than TTW assessed by clinicians. Disagreement between the clinician and software in designating nodules as TTW occurred for 28 nodules. The presence of other ultrasonic characteristics and small differences in the height and width measurements were causes for the incorrect interpretation of the TTW feature. The proposed software-based quantitative analysis of tumor shape seems to be promising as an important advance compared with conventional TTW features evaluated by operators because it allows for a more reliable and consistent distinction and is less influenced by other ultrasonic features.

An R0-resectable, Genetically Engineered Mouse Model of Pancreatic Cancer Mimics the Response to Neoadjuvant Chemotherapy in Human PDAC

Purpose: The understanding of the complex tumor-stromal interactions in PDAC microenvironment has been dramatically enhanced by the development of mouse models. However, recent studies demonstrated that the immune response in existing murine models does not correspond to that of the human disease. In this study, we analyzed the effects of neoadjuvant chemotherapy (neoCTx) on the histopathological features of a novel R0-resectable, genetically induced mouse model (termed Pfl mice) and compared it to human PDAC. Methods: Using double immunofluorescence stainings with multiple markers and software-based analysis, we quantified the angiogenesis, tumor desmoplasia (activated stroma index/ASI), and the tumor-associated infiltration with cytotoxic T-lymphocytes, myeloid-derived-suppressor cells/MDSC and natural killer cells (NK) in tissue specimens of 36 neoadjuvantly treated PCa patients and 6 Pfl mice and compared the results with matched cohorts of primarily resected specimens. Results: In contrast to human PDAC, the stromal activity in the murine tumor microenvironment remained constant after neoCTx. No significant change was observed in the microvessel density in both human and mice (p=0,179; p=0,560). NeoCTx led to a reduction of the CD45+ leucocytes (human: 266,7±22,75 vs 186,6±25,33; p=0,021; mice: 6,3x10-4±1,0 x10-4 vs 1,3x10-4±5,0 x10-5; p=0,005) as well as to an increase of the CD8+ T-lymphocytes/CD45+ leucocyte ratio in both populations (human: 0,22±0,0,01 vs 0,37±0,01; p<0,001; mice: 0,01267±0,03972; p=0,035). Simultaneously, our findings showed a marked decrease of MDSCs (human:16,95±2,36 vs 5,58±0,88; p<0,0001; mice: 6,4x10-5±1,0x10-5 vs 2,6x10-5±1,8x10-5; p=0,074) and NCAM+ NK cells (human: 1,33x10-4±2,13x10-4 vs 2,13x10-5±3,03x10-6; p<0,0001; mice: 12,2x10-5±3,2x10-5 vs 2,5x10-5±1,7x10-5; p=0,069) after neoCTx in human and murine tissue specimens. Conclusions: Our data suggest that the reactivation of anti-tumoral immune responses in the tumor microenvironment of the Pfl PDAC mouse model after neoCTx strongly mimics that of the human disease and therefore proved its suitability for its use in future preclinical trials for molecular immunotherapy.

An Improved Dynamic Thermal Current Rating Model for PMU-Based Wide Area Measurement Framework for Reliability Analysis Utilizing Sensor Cloud System

Information technology expressively improves remote electricity measurement and monitoring. Integrating Dynamic Thermal Current Rating (DTCR) software packs with the exclusive phasor measurement-based Wide Area Measurement (WAM) framework, the remote Transmission Lines (TLs) current rating can be measured. WAM is used for data acquisition from different sensors, and also allows data transmissions and processing for which sensor cloud system (SCS) plays a vital role. DTCR with phasor-measurement based WAM framework is mainly used to analyze and determine the current ratings of overhead TLs using weather condition estimation or prediction methods. However, the recent study suggests that the accuracy of the DTCR has become an issue in the smart grid of Sarawak Energy Berhad (SEB). Hence, this article studies and discusses the relevant models and systems, and then proposes an improved thermal pi (π) model for the transmission line thermal model of DTCR software in WAM Framework. The performance of the improved π model will be distinguished from the existing thermal model. The weather factors that bring a substantial impact on the current rating is also considered, where the relevant data is monitored via different weather sensors. Besides, this study also focuses on calibrating the DTCR through phasor measurement in the WAM system, as well as the field measured data. All the data is collected from relevant sensors, and a detailed comparative analysis is provided based on the proposed model for the sake of improving the reliability of the system. The performance analysis of the thermal models is evaluated using Matlab software-based numerical analysis.

Intelligent Software-Defined Network for Cognitive Routing Optimization using Deep Extreme Learning Machine Approach

In recent years, the infrastructure, instruments, and resources of network systems are becoming more complex and heterogeneous, with the rapid development of current internet and mobile communication technologies. In order to efficaciously prepare, control, hold and optimize networking systems, greater intelligence needs to be deployed. However, due to the inherently dispensed characteristic of conventional networks, Machine Learning (ML) techniques are hard to implement and deployed to govern and operate networks. Software-Defined Networking (SDN) brings us new possibilities to offer intelligence in the networks. SDN’s characteristics (e.g., logically centralized control, global network view, software-based site visitor analysis, and dynamic updating of forwarding rules) make it simpler to apply machine learning strategies. Various perspectives of fiber-optic communications including fiber nonlinearity coverage, optical performance checking, cognitive shortcoming detection/anticipation, and arranging and improvement of software-defined networks are examined in Machine Learning (ML) applications. This research paper has presented an imaginative framework concept called Intelligent Software Defined Network (ISDN) for Cognitive Routing Optimization (CRO) using Deep Extreme Learning Machine (DELM) approach (ISDN-CRO-DELM) in light of the new challenges in the development and operation of communication systems, and capturing motivation from how living creatures deal with difficulty and usability. The proposed methodology develops around the planned applications of progressive DELM methods and, specifically, probabilistic generative models for framework wide learning, demonstrating, improvement, and information description. Furthermore, ISDN-CRO-DELM, suggest to integrate this learning framework with the ISDN for CRO and reconfiguration approaches at the system level. MATLAB 2019a is used for DELM simulation and superior results show the effectiveness of the proposed framework.

Online Place Branding for Natural Heritage: Institutional Strategies and Users’ Perceptions of Mount Etna (Italy)

In recent years, tourist destinations and strategies of place branding have been facing new challenges owing to the diffusion of Information and Communications technologies. Smart devices can give tourists/prosumers the possibility to co-create and share their travel experience to the point to influence the destination web reputation and, consequently, its digital place image and branding. Furthermore, new technologies can be also used as effective analytical tools to scrutinize the role of online co-created narratives in influencing the web reputation of a specific tourist site, natural heritage included. The study focuses on the online destination image of Mount Etna, an active volcano located in Southern Italy inserted in the UNESCO World Heritage List since 2017. The web reputation of this natural heritage site has been analyzed through a twofold methodology: a manual online content analysis and a software-based Sentiment Analysis methodology. The paper highlights the crucial role of new technologies both as tools of analysis in tourism and heritage studies and as “catalysts” of e-narratives able to influence place images. In so doing, the research aims at providing other researchers and policy-makers with new theoretical and methodological insights about the challenges and potentialities of smart technologies in exploring the online place image, thus contributing to a novel conceptualization of place branding through the theoretical/operational framework of Place Branding 3.0. In particular, the mixed-method approach represents an innovative framework insofar as it provides an in-depth evaluation of users’ online perceptions both at the “micro” scale—at the level of contents, through the manual content analysis—as well as at the “macro” scale, thanks to the software-based Sentiment Analysis methodology.

Roles of 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphisms in First-Episode, Drug-Naive Adult Patients With Depression.

5,10-Methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is considered as a predisposition and promising genetic candidate to major depressive disorder (MDD), as it is associated with impaired one-carbon cycles, which may be involved in the pathogenesis of depression. Cortical thickness (CT) and subcortical structure volumes have been extensively studied in MDD and have been proposed as one of the phenotypes for MDD. We intend to discuss the association between CT, subcortical structure volume, and MTHFR C677T polymorphism in first-episode, treatment-naive patients with MDD. In this study, 127 adult patients with MDD and 101 age- and gender-matched healthy controls (HCs) were included. All subjects underwent T1-weighted MRI, MTHFR C677T genotyping, and FreeSurfer software-based morphological analysis. MDD patients have been detected to have significantly decreased volumes in the left nucleus accumbens (P < 0.001). The MTHFR 677 T allele carriers manifested with thinner CT in the left caudal anterior cingulate cortex (cACC, P = 0.009) compared with CC genotype. There were significant genotype-by-diagnosis interactions for the CT in the left cACC (P = 0.009), isthmus cingulate (P = 0.002), medial orbitofrontal lobe (P = 0.012), posterior cingulate (P = 0.030), and the right lateral orbitofrontal lobe (P = 0.012). We also found a trend in the interaction effect on the volume of the left putamen (P = 0.050). Our results revealed that MTHFR C677T polymorphism may be involved in the dysfunction of limbic–cortical–striatal–pallidal–thalamic (LCSPT) circuits mediating emotion processing, which may contribute to pathogenesis of MDD.

Thickness of the Stifle Joint Articular Cartilage in Different Large Animal Models of Cartilage Repair and Regeneration.

ObjectiveRegulatory guidelines for preclinical cartilage repair studies suggest large animal models (e.g., sheep, goat, [mini]-pig, or horse) to obtain results representative for humans. However, information about the 3-dimensional thickness of articular cartilage at different implantation sites in these models is limited.DesignTo identify the most suitable site for experimental surgery, cartilage thickness at the medial femoral condyle (MFC), lateral femoral condyle (LFC), and trochlea in ovine, caprine, and porcine cadaver stifle joints was systematically measured using hematoxylin-eosin staining of 6 µm paraffin sections and software-based image analysis.ResultsRegarding all ventral-dorsal regions of the MFC, goat showed the thickest articular cartilage (maximal mean thickness: 1299 µm), followed by sheep (1096 µm) and mini-pig (604 µm), with the highest values in the most ventral and dorsal regions. Also for the LFC, the most ventral regions showed the thickest cartilage in goat (maximal mean thickness: 1118 µm), followed by sheep (678 µm) and mini-pig (607 µm). Except for the mini-pig, however, the cartilage thickness on the LFC was consistently lower than that on the MFC. The 3 species also differed along the transversal measuring points on the MFC and LFC. In contrast, there were no consistent differences for the regional cartilage thickness of the trochlea among goat and sheep (≥780 µm) and mini-pig (≤500 µm).ConclusionsBased on their cartilage thickness, experimental defects on goat and sheep MFC may be viable options for preclinical cartilage repair studies, in addition to well-established horse models.

Imaging Using Unmanned Aerial Vehicles for Agriculture Land Use Classification

An unmanned aerial vehicle (UAV) was used to capture high-resolution aerial images of crop fields. Software-based image analysis was performed to classify land uses. The purpose was to help relevant agencies use aerial imaging in managing agricultural production. This study involves five townships in the Chianan Plain of Chiayi County, Taiwan. About 100 ha of farmland in each township was selected as a sample area, and a quadcopter and a handheld fixed-wing drone were used to capture visible-light images and multispectral images. The survey was carried out from August to October 2018 and aerial photographs were captured in clear and dry weather. This study used high-resolution images captured from a UAV to classify the uses of agricultural land, and then employed information from multispectral images and elevation data from a digital surface model. The results revealed that visible-light images led to low interpretation accuracy. However, multispectral images and elevation data increased the accuracy rate to nearly 90%. Accordingly, such images and data can effectively enhance the accuracy of land use classification. The technology can reduce costs that are associated with labor and time and can facilitate the establishment of a real-time mapping database.

Using multiple-steps bioinformatic analysis to predict the potential microRNA targets by cardiogenic HoxA11.

In this study, our major aim is to using multiple-steps bioinformatic analysis to predict cardiogenic genes with targeting mRNA profiling for predicting cardiogenic HoxA11 gene. We first analyzed the microarray data with bioinformatic measurement, including combining with panel module 1 (mouse embryonic stem cells), panel module 2 (mouse induced pluripotent stem cells), and panel module 3 (gene list form literature of heart development). A literature-based comparison of the two microarrays and a software-based (Targetscan program, www.targetscan.org) comparative analysis of the two datasets. Furthermore, we select the common central pathways and potential candidate genes involved in the cardiomyocyte-lineaged differentiation and development. Schematic presentation of a putative miR181a target site in Hox-A11 3'UTR. The bioinformatic result showed that potential interacted cardiogenic targets of Tbx5, Tbx20, Mal2c, Nkx2.5, cTNT, Cx43, MHC, and MCK in different treatment groups of pluripotent stem cells by using a literature-based comparison of the two microarrays and a software-based gene-lineage system. Our findings support that mir181a is an up-stream regulating microRNA to target the 3'UTR of HoxA11 mRNA during the process of cardiomyocyte differentiation.

Risk of bony violation with standard triple screw configurations for fixation of femoral neck fractures: A preliminary computed tomography based analysis

PurposeThe reduction and fixation of femoral neck fractures is mainly an indirect one with intraoperative fluoroscopy being trusted for the safe containment of screws within the bony limits of the femoral neck. Radiologically undetected bony perforations may have an impact on the fracture stability and radiological outcomes that have not been studied previously. The purpose of this computed tomography (CT) based study is to analyze the safety of containment of triple screw configurations using standard 6.5 mm diameter screws for fixation of femoral neck fractures in the Indian population using a software-based analysis. MethodsData from consecutive CT scans with intact proximal femur performed over a six month period were retrospectively analyzed using iPlan® BrainLab AG, Feldkirchen, Germany. The safe containment of virtual screw trajectories placed in inverted triangular and non-inverted triangular configurations for a 6.5 mm diameter screw was analyzed in intact femoral necks. ResultsA total of 72 cases were considered for the final assessment. For 6.5 mm screws, the proportion for safe containment (without bony violation) of triple screw inverted triangular configuration was 75% with additional safety corridor to 1 mm around the screw trajectories and 31.94% for non-inverted triangular configuration. All male cases and 28% of female cases allowed safe placement of three 6.5 mm screw trajectories in an inverted triangular pattern with a safety margin of 1 mm around the screw. Replacement of one of the two superior 6.5 mm diameter screw trajectories with a 4.5 mm diameter trajectory resulted in 100% safe containment in female cases. ConclusionInverted triangular configuration is a relatively safer configuration compared to the non-inverted triangular configuration. Standard triple 6.5 mm screws for fixation of femoral neck fractures carry a risk of bony violation, especially in females. A preoperative radiographic assessment to screen the cases with narrow vertical and anteroposterior extents of the femoral neck can help in reducing the risk of fluoroscopically undetected violation of the bony margins. Replacement of one of the two superior screws with a 4.5 mm diameter screw can be helpful in such cases.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

PurposeTo investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). MethodsMultiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. ResultsThe consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. ConclusionKMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.

Reliability of relation between greater trochanter and center of rotation of femoral head in Indian population

PurposeAccurate limb length restoration forms an important aspect of reconstructive surgeries around the hip joint. Among the various intraoperative methods for accurate limb length restoration, the relation between the greater trochanter and the center of the femoral head has been conventionally used owing to its simplicity and replicability. The current study aims to study the normal relation between the greater trochanter and the center of rotation of the femoral head, its population-based variation and its gender-based and contralateral differences in the Indian population. MethodsStandard anteroposterior radiographs of normal hip joints with the proximal femur, performed over a one year period were studied. A software-based analysis was conducted to measure the difference between the levels of the greater trochanteric tip and the center of the femoral head along the longitudinal axis of the femur. The measurements among the male and female cases and the contralateral sides were compared. ResultsThe greater trochanteric tip lies at a higher level than the center of rotation of the femoral head by a mean difference of 9.20 ± 5.30 mm. No significant differences were observed among male and female groups and between the contralateral hip joints. Intraobserver and Interobserver reliability were high. ConclusionsThe tip of the greater trochanter and the center of the femoral head do not lie at the same level. This differential relation should be considered during the reconstructive surgeries around the hip joint to prevent an inadvertent limb length discrepancy. Considering the wide interindividual variations, this difference cannot be generalized for all the patients and restoring it to the contralateral normal hip would be more appropriate.