Core Dataset Research Articles

Connectivity-Guided Theta Burst Transcranial Magnetic Stimulation Versus Repetitive Transcranial Magnetic Stimulation for Treatment-Resistant Moderate to Severe Depression: Magnetic Resonance Imaging Protocol and SARS-CoV-2–Induced Changes for a Randomized Double-blind Controlled Trial

BackgroundDepression is a substantial health and economic burden. In approximately one-third of patients, depression is resistant to first-line treatment; therefore, it is essential to find alternative treatments. Transcranial magnetic stimulation (TMS) is a neuromodulatory treatment involving the application of magnetic pulses to the brain that is approved in the United Kingdom and the United States in treatment-resistant depression. This trial aims to compare the clinical effectiveness, cost-effectiveness, and mechanism of action of standard treatment repetitive TMS (rTMS) targeted at the F3 electroencephalogram site with a newer treatment—a type of TMS called theta burst stimulation (TBS) targeted based on measures of functional brain connectivity. This protocol outlines brain imaging acquisition and analysis for the Brain Imaging Guided Transcranial Magnetic Stimulation in Depression (BRIGhTMIND) study trial that is used to create personalized TMS targets and answer the proposed mechanistic hypotheses.ObjectiveThe aims of the imaging arm of the BRIGhTMIND study are to identify functional and neurochemical brain signatures indexing the treatment mechanisms of rTMS and connectivity-guided intermittent theta burst TMS and to identify imaging-based markers predicting response to treatment.MethodsThe study is a randomized double-blind controlled trial with 1:1 allocation to either 20 sessions of TBS or standard rTMS. Multimodal magnetic resonance imaging (MRI) is acquired for each participant at baseline (before TMS treatment) with T1-weighted and task-free functional MRI during rest used to estimate TMS targets. For participants enrolled in the mechanistic substudy, additional diffusion-weighted sequences are acquired at baseline and at posttreatment follow-up 16 weeks after treatment randomization. Core data sets of T1-weighted and task-free functional MRI during rest are acquired for all participants and are used to estimate TMS targets. Additional sequences of arterial spin labeling, magnetic resonance spectroscopy, and diffusion-weighted images are acquired depending on the recruitment site for mechanistic evaluation. Standard rTMS treatment is targeted at the F3 electrode site over the left dorsolateral prefrontal cortex, whereas TBS treatment is guided using the coordinate of peak effective connectivity from the right anterior insula to the left dorsolateral prefrontal cortex. Both treatment targets benefit from the level of MRI guidance, but only TBS is provided with precision targeting based on functional brain connectivity.ResultsRecruitment began in January 2019 and is ongoing. Data collection is expected to continue until January 2023.ConclusionsThis trial will determine the impact of precision MRI guidance on rTMS treatment and assess the neural mechanisms underlying this treatment in treatment-resistant depressed patients.Trial RegistrationISRCTN Registry ISRCTN19674644; https://www.isrctn.com/ISRCTN19674644International Registered Report Identifier (IRRID)DERR1-10.2196/31925

On the evaluation of permeability of heterogeneous carbonate reservoirs using rigorous data-driven techniques

This study probes the application of Cascade Forward Neural Network (CFNN), Least Square Support Vector Machine (LSSVM), Multilayer Perceptron (MLP), and Generalized Regression Neural Network (GRNN) techniques for modeling the absolute permeability of carbonate rocks in terms of pore specific surface area, porosity, and irreducible water saturation. The control parameters of the MLP and CFNN models were tuned through Levenberg Marquardt Algorithm (LMA) and Bayesian Regularization (BR) optimizers, and the LSSVM paradigm was optimized using Gravitational Search Algorithm (GSA). Accordingly, six intelligent schemes, viz. MLP-BR, MLP-LMA, LSSVM-GSA, CFNN-BR, CFNN-LMA, and GRNN were trained by utilizing 80% of a valuable set of core data compiled from reliable literature and were tested through the rest of the data points (20%). The accuracy of the proposed paradigms was evaluated using several statistical and graphical assessments. The overall results were fulfilling and fair enough for the scope of this study. The proposed MLP-BR, MLP-LMA, LSSVM-GSA, CFNN-BR, CFNN-LMA, and GRNN models were associated with the Root Mean Square Errors of 6.8019, 5.6225, 165.8852, 6.6841, 5.2136, and 11.1799, respectively. The results were endorsed through 3-fold cross-validation. Furthermore, outlier detection was carried out by means of the plot of standardized residuals versus Leverage values. For all models, the majority of the points were valid values distributing in the applicability domain of the models. In the end, the developed models were compared against two literature smart models and a traditional correlation. The results demonstrated that the recently generated models offer remarkably higher accuracy than other alternatives followed by the Gene Expression Programming (GEP) modeling approach.

Microdata collection and openness in the Middle East and North Africa

AbstractThis article uses a “mystery client” approach and visits the websites of National Statistical Offices and international microdata libraries to assess whether foundational microdata sets for countries in the Middle East and North Africa region are collected, up to date, and made available to researchers. The focus is on population and economic censuses, price data and consumption, labor, health, and establishment surveys. The results show that about half of the expected core data sets are being collected and that only a fraction is made available publicly. As a consequence, many summary statistics, including national accounts and welfare estimates, are outdated and of limited relevance to decision-makers. Additional investments in microdata collection and publication of the data once collected are strongly advised.

Research on Salt Lake Lithium: a bibliometric analysis

Lithium, an important material in batteries, has shown an upward trend in demand in recent years. The research and development of lithium resources is of increasing importance because of the richness of lithium resources in Salt Lake brines. With breakthroughs in key technologies, research on lithium in salt lakes is increasing. Based on the research papers on Salt Lake Lithium in the Web of science core dataset, this paper finds that the number of Salt Lake Lithium relevant papers shows an increasing trend in recent year. We further identify the main experts and leading research institutions in the field of Salt Lake lithium research, and the results show that the Chinese academy of science has the leading position in Salt Lake lithium research. Besides, the keyword cooccurrence network indicate that lithium extraction and separation are mainstream research topics.

A Comprehensive Analysis of E-Health Literacy Research Focuses and Trends.

Objective: To sort out the research focuses in the field of e-health literacy, analyze its research topics and development trends, and provide a reference for relevant research in this field in the future. Methods: The literature search yielded a total of 431 articles retrieved from the core dataset of Web of Science using the keywords “ehealth literacy”, “E-health literacy” and “electronic health literacy”. A bibliometric analysis was performed by using CiteSpace to explore the development history, hot themes, and trends of future research in the field of e-health literacy. Results: The thematic evolution path in e-health literacy was divided into three stages. The research focuses were inspected from four aspects: evaluation, correlation with health-promotion behaviors, influencing factors, and intervention measures for improvement. Conclusion: E-health literacy research faces challenges such as the development of the connotation of the term, the objectivity of evaluation methods, and the long-term impact of interventions. Future research themes in e-health literacy will include the standardization of evaluation instruments and the individualization of therapeutic strategies.

Nutritional assessment and management in acute pancreatitis: Ongoing lessons of the NCEPOD report.

Acute pancreatitis (AP) is a medical emergency that is common, poorly understood and carries a significant risk of death. The National Confidential Enquiry into Patient Outcome and Death (NCEPOD) undertook a comprehensive report into the current management of AP in the UK. The study aimed to provide a more detailed analysis of the findings related to nutritional assessment and support. The data presented here were analysed from the core dataset used in the NCEPOD study. Adult patients admitted between January and June 2014 with a coded diagnosis of AP were included. A clinical and organisational questionnaire was used to collect data and submitted case notes subjected to peer review. Nutritional data, including assessment and provision of support, were analysed. One hundred and forty-seven out of 168 (87.5%) hospitals had a nutrition team in place. A screening nutritional assessment was performed in only 67.4% (368/546) of patients. Subsequent referral to a dietitian and nutrition team input occurred in 39% (201/521) and 25% (143/572) of patients, respectively. Supplemental nutrition was considered and used in 240/555 (43.2%) patients. Overall management of the patients' nutrition was considered adequate by the case reviewers in only 281/332 (85%) of cases and by the clinicians in 77% (421/555) of cases. Many patients do not receive adequate nutritional assessment and, in up to 23% of cases, nutritional intervention is not adequate. Pancreatic exocrine insufficiency is likely under recognised and undertreated. Nutritional strategies to support early intervention and to support clinicians outside of tertiary pancreatic centres are warranted.

Standardized documentation and synoptic reporting of complex intestinal anatomy in enteric fistulation and intestinal failure

AbstractAimIn intestinal failure, delineation of both structure and function are key to controlling symptoms and planning further intervention. We have developed a template for developing an ‘anatomy at a glance’ patient‐specific map to aid decision making and counselling.MethodA core dataset was developed and used to create an editable template to demonstrate the gastrointestinal tract, its relationship to the genitourinary tract, and specific anterior abdominal wall features. This was then used to create an anatomical template, specific to each patient, and stored in the electronic patient record and imaging archive.ResultsWe have developed a technique for integration of multi‐modal information into one diagram, easily referenced by the multidisciplinary team. Radiology, endoscopy and previous operation notes can be used to fill out a core dataset, which is then transposed into a standardized template. A worked example is shown.ConclusionThe mapping template has been successfully integrated into practice and aided decision making at all stages of the patient's therapeutic journey. It has been found helpful in planning routes of nutrition, preoperative optimization, surgical planning, interpreting postoperative imaging and managing patient expectations.

Characteristics of myotonic dystrophy patients in the national registry of Japan

Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeutics for DM are limited; therefore, a patient registry is essential for therapeutic development and success of clinical trials targeting the diseases. We have developed a nationwide DM registry in Japan under the Registry of Muscular Dystrophy (Remudy). The registration process was patient-initiated; however, physicians certified the clinical information. The dataset includes all Naarden and TREAT-NMD core datasets and additional items covering major DM clinical features. As of March 2020, we enrolled 976 patients with genetically confirmed DM. The majority (99.9%) of these patients had DM1, with 11.4% having the congenital form. However, 1 patient had DM2. Upon classifying 969 symptomatic DM1 patients based on their age at onset, an earlier onset was associated with a longer CTG repeat length. Myotonia was the most frequent symptom, followed by hand disability, fatigue, and daytime sleepiness. The frequency of hand disabilities, constipation, and visual disturbances was higher for patients with congenital DM. According to a multiple regression analysis of objective clinical measurements related to prognosis and activities of daily living, CTG repeat length strongly influenced the grip strength, forced vital capacity, and QRS time in an electrocardiogram. However, the grip strength was only modestly related to disease duration. This report will shed light on the Japanese national DM registry, which has recruited a significant number of patients. The registry will provide invaluable data for planning clinical trials and improving the standard of care for patients.

Petrophysical target characterization with lithogeochemical clustering: the Metsämonttu Zn–Pb–Cu deposit, southern Finland

ABSTRACTIn mineral exploration, reliable and comprehensive petrophysical groundwork helps evaluate the success rate of applying geophysical methods to the target and thus improves the quality of decision‐making related to geophysical surveys. Petrophysical data for potential field exploration can be efficiently collected from drill cores together with portable XRF data that provide insight into rock compositions. We acquired and analysed a multi‐parameter portable‐instrument drill core data set (2036 samples) with portable XRF, magnetic susceptibility and density measurements from the Metsämonttu Zn–Pb–Cu deposit, one of the base metal deposits in the Orijärvi Belt, southern Finland, with little post‐mining exploration during the last 50 years. Our study applied a machine learning technique (Gaussian Mixture Model clustering) to the portable XRF data to provide a pseudo‐lithological reclassification of the drill cores and used this as a basis for characterization of the deposit in petrophysical terms. We also used thermomagnetic measurements to inspect the magnetic mineralogy of the drill cores. Finally, we estimated the success of using potential field methods (magnetic and gravity) for brownfield exploration of analogous deposits in the area. With the portable XRF data clustering we were able to distinguish between barren mafic and felsic volcanic rocks, altered rocks and three different ore mineral enriched rock types. The petrophysical measurement data and thermomagnetic results were combined with the clusters to define the petrophysical characteristics for future mineral exploration with potential field methods. At Metsämonttu, the highest densities are related to the ore and iron sulphide‐bearing rocks. High natural remanent magnetization intensities are related to the iron sulphide‐bearing ore, and remanent magnetization is a significant magnetic anomaly source. Based on synthetic modelling results, both magnetic and gravimetric data could be used in direct exploration in the Metsämonttu area.

Seismic stratigraphy, sedimentary facies analysis and reservoir characteristics of the Middle Jurassic syn-rift sediments in Salam Oil Field, north Western Desert, Egypt

The Middle Jurassic syn-rift sediments (Khatatba Formation) of the Western Desert, Egypt hosting potential reservoir intervals are prospective targets for hydrocarbon exploration and development campaigns. However, their depositional evolution and factors controlling distribution of the best reservoir faces are not very well-constrained. This work integrates seismic, well logs and conventional core dataset in order to define the syn-rift sedimentary patterns and their impact on distribution and quality of the reservoir facies. Khatatba Formation comprises two discrete units; the lower unit constitutes lower progradational and upper retrogradational sedimentary packages that are interpreted in terms of discrete rift phases. Nine sedimentary facies associations (FA) were recognized and their stacking patterns are governed by the rift evolution and the interplay between variation in fault offsets and sediment supply. Distal sand bar sandstones, marine shales and organic-rich shales were accumulated during periods of high subsidence. Successive alternation between shallow and deep facies at the base of the lower unit reveals repeated short periods of progradation and retrogradation with an overall progradational trend reflecting an elevated rate of sediment supply.Episodic fault-controlled retrogradation and progradation continued during the deposition of the Khatatba upper unit where the progradational deltaic facies changes upward into retrogradational marine sediments and aggradational-progradational aeolian and shoreface sandstones. Five hydraulic flow units (HFUs) were identified and their distribution is mostly controlled by the rift evolution. The lowest reservoir quality HFU4 and HFU5 are often associated with the retrograding distal facies accumulated during highest rates of subsidence. These zones do not contribute to more than 10% of the reservoir flow capacity. On the other hand, the progradational deltaic facies accounts for approximately 85% of the reservoir flow capacity in both lower and upper Khatatba units.

Information Extraction from German Clinical Care Documents in Context of Alzheimer’s Disease

Dementia affects approximately 50 million people in the world today, the majority suffering from Alzheimer’s disease (AD). The availability of long-term patient data is one of the most important prerequisites for a better understanding of diseases. Worldwide, many prospective, longitudinal cohort studies have been initiated to understand AD. However, this approach takes years to enroll and follow up with a substantial number of patients, resulting in a current lack of data. This raises the question of whether clinical routine datasets could be utilized to extend collected registry data. It is, therefore, necessary to assess what kind of information is available in memory clinic routine databases. We did exactly this based on the example of the University Hospital Bonn. Whereas a number of data items are available in machine readable formats, additional valuable information is stored in textual documents. The extraction of information from such documents is only applicable via text mining methods. Therefore, we set up modular, rule-based text mining workflows requiring minimal sets of training data. The system achieves F1-scores over 95% for the most relevant classes, i.e., memory disturbances from medical reports and quantitative scores from semi-structured neuropsychological test protocols. Thus, we created a machine-readable core dataset for over 8000 patient visits over a ten-year period.

Simple scoring algorithm to identify community-dwelling older adults with limited health literacy: a cross-sectional study in Taiwan

ObjectiveHealth literacy (HL) is the degree of individuals’ capacity to access, understand, appraise and apply health information and services required to make appropriate health decisions. This study aimed to establish...

Prerequisites of Personal Health Record for Chronic Kidney Disease: A Scoping Review and Evaluation of the Content Validity.

It is obvious that the Personal Health Record (PHR) is a major cornerstone for "improving the self-management of patient". However, lack of an effective and comprehensive personal health record system prohibits the widespread use of PHRs. The aim of this study was to identify the core data sets and required functionalities for designing a PHRs for chronic kidney disease (CKD) management and assess their validity. It was a study including two phases. In the initial phase, a scoping review was conducted with the aim of determination the core data sets and required functionalities for designing PHRs. Then in the second phase, the validity of data items and functionalities was determined by 25 multidisciplinary experts. 22 studies were eligible after screening 1335 titles and abstracts and reviewing 88 full texts. We determined 20 core data set and 8 required functionalities of PHRs. From the perspective of experts, 'health maintenance' and 'advance directives' were most often marked as useful but not essential, while 'test and examination', 'medication list' and 'diagnosis and comorbid conditions" were predominantly considered as essential by all experts (n=25,100%). This research is a step that we have taken to identify prerequisites that could be used for the design, development, and implementation of an effective and comprehensive electronic personal health record.

Characterization of Pliocene Biogenic Gas Reservoirs from the Western Black Sea Shelf (Romanian Offshore) by Integration of Well Logs and Core Data

The successful interpretation of open-hole well logging data relies on jointly using all available petrophysical and geological information. This paper presents relevant case studies related to the integration of well logs with core measurements for exploration wells drilled in the Romanian continental shelf area of the Western Black Sea basin. The analyzed wells targeted gas-bearing sands and silts complexes of Early Pliocene (Dacian) age, developed in a deltaic to shallow marine sedimentary environment in two distinct fields. The wireline logging programs included conventional formation evaluation logs, pressure surveys, nuclear magnetic resonance, and borehole electrical imaging logs. The core dataset comprised routine and special measurements (porosity, grain density, permeability, water saturation, and Archie parameters) carried out at quasi-reservoir confining pressure. The wireline logging suites were interpreted via a deterministic workflow, including core-derived interpretation parameters. Other core-derived parameters were used for constraining and validating the log interpretations. The results show that a problem related to the ambiguity of formation water resistivity can be overcome through resistivity–porosity dependencies constructed to include potential aquifer zones in the proximity of the Dacian gas-bearing reservoirs. This study also revealed and quantified uncertainties regarding the estimation of gas–water contacts from formation pressure surveys, which can be mitigated by the confirmation or correction of pressure-derived fluid contacts via the well log interpretation results. Lastly, we identified a probable resistivity logs suppression effect related both to high contents of capillary-bound water and also to the limited resolution of electrical logging tools in the presence of sand-shale thin bedding or laminations.

Common Data Elements for Meaningful Stroke Documentation in Routine Care and Clinical Research: Retrospective Data Analysis.

BackgroundMedical information management for stroke patients is currently a very time-consuming endeavor. There are clear guidelines and procedures to treat patients having acute stroke, but it is not known how well these established practices are reflected in patient documentation.ObjectiveThis study compares a variety of documentation processes regarding stroke. The main objective of this work is to provide an overview of the most commonly occurring medical concepts in stroke documentation and identify overlaps between different documentation contexts to allow for the definition of a core data set that could be used in potential data interfaces.MethodsMedical source documentation forms from different documentation contexts, including hospitals, clinical trials, registries, and international standards, regarding stroke treatment followed by rehabilitation were digitized in the operational data model. Each source data element was semantically annotated using the Unified Medical Language System. The concept codes were analyzed for semantic overlaps. A concept was considered common if it appeared in at least two documentation contexts. The resulting common concepts were extended with implementation details, including data types and permissible values based on frequent patterns of source data elements, using an established expert-based and semiautomatic approach.ResultsIn total, 3287 data elements were identified, and 1051 of these emerged as unique medical concepts. The 100 most frequent medical concepts cover 9.51% (100/1051) of all concept occurrences in stroke documentation, and the 50 most frequent concepts cover 4.75% (50/1051). A list of common data elements was implemented in different standardized machine-readable formats on a public metadata repository for interoperable reuse.ConclusionsStandardization of medical documentation is a prerequisite for data exchange as well as the transferability and reuse of data. In the long run, standardization would save time and money and extend the capabilities for which such data could be used. In the context of this work, a lack of standardization was observed regarding current information management. Free-form text fields and intricate questions complicate automated data access and transfer between institutions. This work also revealed the potential of a unified documentation process as a core data set of the 50 most frequent common data elements, accounting for 34% of the documentation in medical information management. Such a data set offers a starting point for standardized and interoperable data collection in routine care, quality management, and clinical research.

Identification of relevant indicators for the assessment of karst systems hydrological functioning: Proposal of a new classification

Classification is a first-line tool for understanding the main characteristics of a natural system’s response. We propose a new classification of karst systems hydrological functioning that is based on spring discharge time series and takes profit of spring discharge databases to encompass the high diversity of karst hydrological functioning. It discriminates six different classes based on three relevant indicators of karst hydrological functioning.A core dataset made of 10 karst systems was first considered for the set-up of the classification. The spring discharge time series were investigated according to recession curves, statistical and signal analyses to identify relevant indicators of hydrological functioning. The selection of the most relevant indicators and the proposal of the classification were based on multivariate analyses. The classification was then tested on spring discharge time series of 78 karst systems located worldwide.All the systems homogeneously spread among the six proposed classes, which highlights the relevance of the approach and the representativeness of the various classes of hydrological functioning. Results from the proposed methodology were finally discussed to explore its limitations and define guidelines for its application.

Late Holocene stratigraphic evolution and sedimentary facies of an active to abandoned tide‐dominated distributary channel and its mouth bar

AbstractTo better understand the sedimentary facies of tide‐dominated deltas, a core dataset from the Ba Lai palaeochannel in the Mekong River Delta was obtained and studied. Nine sedimentary facies were identified and interpreted as representing the Late Holocene evolution of the Ba Lai palaeochannel, including its pre‐abandonment and post‐abandonment phases, as well as pre‐channel phases. The channel formed at 2.6 ka as a distributary channel connected to the deltaic network and was abruptly abandoned and rapidly infilled with sediment at 0.7 ka. The channel deposits are up to ca 11 m thick and overlie shelfal shell layers, which, in turn, overlie Mid‐Holocene and Pleistocene deposits. The active‐channel fill and mouth‐bar deposits consist of sand and mud with cyclical patterns, bidirectional lenses and abundant mud layers, suggesting deposition mainly driven by river and tidal processes. The abandoned‐channel fill consists entirely of organic‐rich mud, suggesting a predominance of tidal processes. Other sedimentary facies include tidal‐flat and marsh deposits; they mostly consist of mud and formed in shallow to subaerial areas near the channel margins or on barforms. Depending on the exact location of the core in this depositional setting, three possible stratigraphic successions and facies models are presented herein. Near channel margins, the deposits show an upward gradual change from heterolithic to mud with a well‐developed fining‐upward trend. Away from the channel margins, the deposits show an upward sharp change from heterolithic to mud due to the channel abandonment. The mouth‐bar‐area facies model shows an upward gradual change from heterolithic to heterolithic/sand to mud deposits with a coarsening‐upward to fining‐upward trend. Although differences among systems likely exist, the authors suggest that the sedimentary facies described in this study and the resulting facies models should be used to better understand tide‐dominated deltaic systems and to improve their interpretation in the geological record.

Hands on the Medical Informatics Initiative Core Data Set - Lessons Learned from Converting the MIMIC-IV.

With the steady increase in the connectivity of the healthcare system, new requirements and challenges are emerging. In addition to the seamless exchange of data between service providers on a national level, the local legacy data must also meet the new requirements. For this purpose, the applications used must be tested securely and sufficiently. However, the availability of suitable and realistic test data is not always given. Therefore, this study deals with the creation of test data based on real electronic health record data provided by the Medical Information Mart for Intensive Care (MIMIC-IV) database. In addition to converting the data to the current FHIR R4, conversion to the core data sets of the German Medical Informatics Initiative was also presented and made available. The test data was generated to simulate a legacy data transfer. Moreover, four different FHIR servers were tested for performance. This study is the first step toward comparable test scenarios around shared datasets and promotes comparability among providers on a national level.

REGISTRIES AND CARE OF NMD: EP.346 The Egyptian neuromuscular registry

The Egyptian neuromuscular registry (ENR) was founded in 2012 by voluntary efforts in collaboration with TREAT-NMD. To our knowledge, the ENR is the first registry in the Eastern Mediterranean region dedicated to hereditary neuromuscular disorders (NMD). Currently, the ENR is directed by the Myo-Care National Foundation, an Egyptian NGO governed by a board of directors of national and international NMD experts. Myo-Care national foundation was founded in 2019 with four main missions; 1) fund research to study the phenotype-genotype characteristics of the Egyptian patients, 2) raise awareness to facilitate genetic diagnosis and inform improvements in standards of care, 3) advocate for the novel genetically modified therapies and 4) for readiness to clinical trials. The ENR curate genetically confirmed patients from seven NMD; (DMD, SMA, LGMD, FSHD, DM, GNE myopathy, and CMS), collecting the core dataset for five of the seven diseases, namely, (DMD, SMA, LGMD, FSHD, and DM) following the TREAT-NMD guidelines. In the last eight years, the ENR participated in more than twenty pharmaceutical and academic data enquires. And was involved in two of the TREAT-NMD projects aiming to develop the core dataset for global registries; 1) the pilot study for SMA core data set implementation, and 2) the "LGMD Dataset Working Group." Academically the ENR contributed to four international studies published in international journals. The registry is clinician-reported, currently, including 2,012 genetically confirmed patients registered from all over Egypt and North Africa (1445 DMD, 255 LGMD, 196 SMA, 22 GNE myopathy, 64 FSHD, and 30 DM). Data is uploaded onto a safe, encrypted web-based platform. However, disease-specific patient populations, especially in rare disorders, are often small and geographically dispersed. Considering Egypt's high population and the widespread consanguineous marriage, it's crucial to develop multidisciplinary centers in the main cities, training medical professionals and curators to build a national registry. Hereditary NMD is gaining recognition due to the emerging novel gene modifying therapies; a centralized dataset can inform clinical trials and establish consensuses to improve the prognosis for Egypt's rare NMD community. The ENR shows potential for an Egyptian national NMD and can be used as a base dataset.

Functional independence in the Finnish spinal cord injury population

Study designA cross-sectional survey of the Finnish population with spinal cord injury (FinSCI database).ObjectivesTo describe the functional independence of the population with spinal cord injury (SCI) in Finland and to identify how generic and lesion characteristics affect their functional independence.SettingThe participants were recruited from the registers of three SCI outpatient clinics responsible for lifelong follow-up and care for people with SCI in Finland.MethodsThe data were retrieved from FinSCI (n = 1772). The response rate was 50% (n = 884). The Spinal Cord Independence Measure-Self Report (SCIM-SR) was used. The data were analyzed with univariate testing, factor analyses, and multiple linear regression models.ResultsThe median (percentiles 25; 75) SCIM-SR total score was 76.0 (58.8; 89.0), and the score was 18.0 (13.0; 20:0) for the self-care sub-scale, 33.0 (25.0; 39.0) for the respiration and sphincter management sub-scale and 29.0 (16.0; 36.8) for the mobility sub-scale. The higher the neurological level in groups AIS A, B, and C, the lower the functional ability. Group AIS D at any injury level had the highest level of functional ability. Age and the number of years since injury negatively influenced the SCIM-SR scores for every sub-scale.ConclusionBased on the International Spinal Cord Injury Core Data Set, the severity of SCI can differentiate persons with SCI according to their functional ability. The results suggest that SCI affects individuals’ health more than ageing alone does, thereby reducing the functional ability and independence of persons with SCI over time.