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PURPOSE: There is a longstanding belief that prostaglandin analogs (PGAs) may predispose patients with glaucoma to develop acute cystoid macular edema (CME). However, there is little solid evidence supporting this notion. The purpose of this study is to compare CME incidence rates among patients initiating treatment with different glaucoma medication classes. DESIGN: Database study. PARTICIPANTS: 39948 patients who were newly prescribed glaucoma medications METHODS: Using data from 10 health systems contributing data to the Sight Outcomes Research Collaborative (SOURCE) Ophthalmology Data Repository, we identified all adults with glaucoma who had been newly started on a topical glaucoma medication. Patients with pre-existing documentation of macular edema were excluded. We assessed the incidence of CME among patients with glaucoma who were newly started on PGAs, topical beta blockers (BBs), alpha agonists (AAs), and carbonic anhydrase inhibitors (CAIs). Using multivariable logistic regression, and adjusting for sociodemographic factors, we assessed the odds of developing CME among patients prescribed each of the 4 glaucoma medication classes. We also performed a subset regression analysis including lens status as a co-variate. MAIN OUTCOME MEASURES: Incidence of CME within 3 months of initiating therapy with different topical glaucoma medications. RESULTS: Among the 39,948 patients were newly treated with a topical glaucoma medication, 139 (0.35%) developed CME. The incidence of CME was 0.13%, 0.65%, 0.55%, 1.76% for users of PGAs, BBs, alpha agonists (AAs) and carbonic anhydrase inhibitors (CAIs), respectively. After adjusting for sociodemographic factors, users of topical BBs, AAs and CAIs had substantially higher odds of developing CME compared with PGA users (P<0.001 for all comparisons). The subset analysis also showed higher odds ratio of the non-PGA medication classes in association with CME. CONCLUSIONS: Clinicians should reconsider the notion that PGAs carry a higher risk of CME versus other glaucoma medication classes. If additional studies support the findings of these analyses, clinicians may feel more comfortable prescribing PGAs to patients with glaucoma without fear they will predispose patients to CME.
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Meningioma is the most common benign primary brain tumour and does not usually metastasise. We report the case of a 69-year-old male patient with a history of meningioma who presented respiratory symptoms. He was found to have diffuse pleural metastasis from meningioma, which occurred 10 years after surgical management of recurrent meningioma. This case study provides insights into the clinical profile, workup and management of metastatic meningioma.
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PURPOSE: Breath-held fat-suppressed volumetric T1-weighted MRI is an important and widely-used technique for evaluating the abdomen. Both fat-saturation and Dixon-based fat-suppression methods are used at conventional field strengths; however, both have challenges at lower field strengths (<1.5T) due to insufficient fat suppression and/or inadequate resolution. Specifically, at lower field strengths, fat saturation often fails due to the short T1 of lipid; and Cartesian Dixon imaging provides poor spatial resolution due to the need for a long ∆TE, due to the smaller ∆f between water and lipid. The purpose of this work is to demonstrate a new approach capable of simultaneously achieving excellent fat suppression and high spatial resolution on a 0.55T whole-body system. METHODS: We applied 3D stack-of-spirals Dixon imaging at 0.55T, with compensation of concomitant field phase during reconstruction. The spiral readouts make efficient use of the requisite ∆TE. We compared this with 3D Cartesian Dixon imaging. Experiments were performed in 2 healthy and 10 elevated liver fat volunteers. RESULTS: Stack-of-spirals Dixon imaging at 0.55T makes excellent use of the required ∆TE, provided high SNR efficiency and finer spatial resolution (1.7 × 1.7 × 5 mm3) compared Cartesian Dixon (3.5 × 3.5 × 5 mm3), within a 17-s breath-hold. We observed successful fat suppression, and improved definition of structures such as the liver, kidneys, and bowel. CONCLUSION: We demonstrate that high-resolution single breath-hold volumetric abdominal T1-weighted imaging is feasible at 0.55T using spiral sampling and concomitant field correction. This is an attractive alternative to existing Cartesian-based methods, as it simultaneously provides high-resolution and excellent fat-suppression.
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PURPOSE: Comprehensive assessment of image quality requires accounting for spatial variations in (i) intensity artifact, (ii) geometric distortion, (iii) signal-to-noise ratio (SNR), and (iv) spatial resolution, among other factors. This work presents an ensemble of methods to meet this need, from phantom design to image analysis, and applies it to the scenario of imaging near metal. METHODS: A modular phantom design employing a gyroid lattice is developed to enable the co-registered volumetric quantitation of image quality near a metallic hip implant. A method for measuring spatial resolution by means of local point spread function (PSF) estimation is presented and the relative fitness of gyroid and cubic lattices is examined. Intensity artifact, geometric distortion, and SNR maps are also computed. Results are demonstrated with 2D-FSE and MAVRIC-SL scan protocols on a 3T MRI scanner. RESULTS: The spatial resolution method demonstrates a worst-case error of 0.17 pixels for measuring in-plane blurring up to 3 pixels (full width at half maximum). The gyroid outperforms a cubic lattice design for the local PSF estimation task. The phantom supports four configurations toggling the presence/absence of both metal and structure with good spatial correspondence for co-registered analysis of the four quality factors. The marginal scan time to evaluate one scan protocol amounts to five repetitions. The phantom design can be fabricated in 2 days at negligible material cost. CONCLUSION: The phantom and associated analysis methods can elucidate complex image quality trade-offs involving intensity artifact, geometric distortion, SNR, and spatial resolution. The ensemble of methods is suitable for benchmarking imaging performance near metal.
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Context: During the "coronavirus disease 2019 (COVID-19)" pandemic, screen time saw a notable increase, ranging from 2.5 to 7.5 hours per day. Scientific evidence has demonstrated a strong correlation between heightened digital media usage and heightened levels of stress, anxiety, and depression. Research indicates that engaging in screen time for four hours or more daily can elevate the likelihood of experiencing symptoms of depression among children and adolescents by 46-80%. Despite this, there remains a paucity of medical evidence elucidating the intricate interplay between screen time, physical inactivity, and insomnia in adults. Aim: The aim of the study was to estimate the prevalence of increased screen time, insomnia, and physical inactivity among adults and their association during the COVID-19 pandemic. Settings and Design: A cross-sectional study through an online Google Form questionnaire was conducted among the Indian population. Methods and Materials: The study was conducted between June and August 2020 and comprised 658 participants aged 18 and above. Participants were recruited using a chain sampling procedure, with the majority being female, accounting for 54% (355 individuals). Statistical Analysis: The mean and standard deviation were calculated for numerical variables, while percentages and proportions were determined for categorical variables. The Chi-square test was employed to examine associations between variables. For assessing the predictors of screen time, a multivariate logistic regression analysis was conducted. Results: The majority of participants reported screen time exceeding 2 hours per day (85%), clinical insomnia symptoms (59%), moderate to high physical activity levels (92.8%), and low levels of sedentary behavior (60.5%). Variables such as gender, age, and screen time demonstrated significant associations with insomnia and physical activity. The odds ratio for insomnia in relation to screen time was 2.84 (95% confidence interval: 1.78-4.58) with a P value of 0.001. Multivariate logistic regression analysis indicated that increasing age was significantly associated with lower levels of screen time. Conclusions: Screen time showed a significant association with insomnia. Less screen time was reported with increased age.
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Mesenchymal stromal cells (MSC) from adult bone marrow are the most commonly used cells in clinical trials. MSCs from single donors are the preferred starting material but suffer from a major setback of being heterogeneous that results in unpredictable and inconsistent clinical outcomes. To overcome this, we developed a method of pooling MSCs from different donors and created cell banks to cater clinical needs. Initially, the master cell banks (MCBs) were created at passage 1 (P1) from the bone marrow MSCs isolated from of nine different donors. At this stage, MCBs from three different donors were mixed in equal proportion and expanded till P3 to create working cell banks. Further, the pooled cells and individual donor MSCs were expanded till P5 and cryopreserved and extensively characterised. There was a large heterogeneity among the individual donor MSCs in terms of growth kinetics (90% Coefficient of variation (CV) for cell yield and 44% CV for population doubling time at P5), immunosuppressive ability (30% CV at 1:1 and 300% CV at 1:10 ratio), and the angiogenic factor secretion potential (20% CV for VEGF and71% CV for SDF-1). Comparatively, the pooled cells have more stable profiles (60% CV for cell yield and 7% CV for population doubling time at P5) and exhibit better immunosuppressive ability (15% CV at 1:1 and 32% CV at 1:10 ratio ) and consistent secretion of angiogenic factors (16% CV for VEGF and 51% CV for SDF-1). Further pooling does not compromise the trilineage differentiation capacity or phenotypic marker expression of the MSCs. The senescence and in vitro tumourigenicity characteristics of the pooled cells are also similar to those of individual donor MSCs. We conclude that pooling of MSCs from three different donors reduces heterogeneity among individual donors and produces MSCs with a consistent secretion and higher immunosuppressive profile.
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Células de la Médula Ósea , Células Madre Mesenquimatosas , Donantes de Tejidos , Células Madre Mesenquimatosas/citología , Células Madre Mesenquimatosas/metabolismo , Humanos , Células de la Médula Ósea/citología , Células de la Médula Ósea/metabolismo , Diferenciación Celular , Criopreservación/métodos , Proliferación Celular , Células Cultivadas , Adulto , Técnicas de Cultivo de Célula/métodosRESUMEN
PURPOSE: To investigate the feasibility of diffusion tensor brain imaging at 0.55T with comparisons against 3T. METHODS: Diffusion tensor imaging data with 2 mm isotropic resolution was acquired on a cohort of five healthy subjects using both 0.55T and 3T scanners. The signal-to-noise ratio (SNR) of the 0.55T data was improved using a previous SNR-enhancing joint reconstruction method that jointly reconstructs the entire set of diffusion weighted images from k-space using shared-edge constraints. Quantitative diffusion tensor parameters were estimated and compared across field strengths. We also performed a test-retest assessment of repeatability at each field strength. RESULTS: After applying SNR-enhancing joint reconstruction, the diffusion tensor parameters obtained from 0.55T data were strongly correlated ( R 2 ≥ 0 . 70 $$ {R}^2\ge 0.70 $$ ) with those obtained from 3T data. Test-retest analysis showed that SNR-enhancing reconstruction improved the repeatability of the 0.55T diffusion tensor parameters. CONCLUSION: High-resolution in vivo diffusion MRI of the human brain is feasible at 0.55T when appropriate noise-mitigation strategies are applied.
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Encéfalo , Imagen de Difusión Tensora , Estudios de Factibilidad , Procesamiento de Imagen Asistido por Computador , Relación Señal-Ruido , Humanos , Encéfalo/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Masculino , Adulto , Reproducibilidad de los Resultados , Femenino , Procesamiento de Imagen Asistido por Computador/métodos , Algoritmos , Voluntarios SanosRESUMEN
Chronic inflammation is a major cause of cancer worldwide. Interleukin 33 (IL-33) is a critical initiator of cancer-prone chronic inflammation; however, its induction mechanism by environmental causes of chronic inflammation is unknown. Herein, we demonstrate that Toll-like receptor (TLR)3/4-TBK1-IRF3 pathway activation links environmental insults to IL-33 induction in the skin and pancreas inflammation. An FDA-approved drug library screen identifies pitavastatin to effectively suppress IL-33 expression by blocking TBK1 membrane recruitment/activation through the mevalonate pathway inhibition. Accordingly, pitavastatin prevents chronic pancreatitis and its cancer sequela in an IL-33-dependent manner. The IRF3-IL-33 axis is highly active in chronic pancreatitis and its associated pancreatic cancer in humans. Interestingly, pitavastatin use correlates with a significantly reduced risk of chronic pancreatitis and pancreatic cancer in patients. Our findings demonstrate that blocking the TBK1-IRF3-IL-33 signaling axis suppresses cancer-prone chronic inflammation. Statins present a safe and effective prophylactic strategy to prevent chronic inflammation and its cancer sequela.
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Inhibidores de Hidroximetilglutaril-CoA Reductasas , Factor 3 Regulador del Interferón , Interleucina-33 , Neoplasias Pancreáticas , Proteínas Serina-Treonina Quinasas , Quinolinas , Transducción de Señal , Interleucina-33/metabolismo , Animales , Factor 3 Regulador del Interferón/metabolismo , Humanos , Neoplasias Pancreáticas/prevención & control , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/genética , Inhibidores de Hidroximetilglutaril-CoA Reductasas/farmacología , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Ratones , Proteínas Serina-Treonina Quinasas/metabolismo , Transducción de Señal/efectos de los fármacos , Quinolinas/farmacología , Quinolinas/uso terapéutico , Inflamación/prevención & control , Inflamación/metabolismo , Pancreatitis Crónica/prevención & control , Pancreatitis Crónica/metabolismo , Receptor Toll-Like 3/metabolismo , Ratones Endogámicos C57BL , Receptor Toll-Like 4/metabolismo , Ácido Mevalónico/metabolismo , Masculino , Femenino , Ratones NoqueadosRESUMEN
INTRODUCTION: This study aimed to study on clinical outcomes of single-stage (laparoscopic cholecystectomy [LC] and laparoscopic common bile duct [CBD] exploration using flexible videobronchoscope) versus dual-stage (endoscopic retrograde cholangiopancreatography followed by laparoscopic cholecystectomy) for cholelithiasis with choledocholithiasis-prospective study in a tertiary care centre (BRACE STUDY-Bronchoscope-Assisted CBD Exploration [CBDE] Study). PATIENTS AND METHODS: Between April 2022 and April 2023, patients who underwent LC with laparoscopic CBDE and endoscopic retrograde cholangiopancreatography (ERCP) followed by LC participated in this single-centre prospective research. The Institute Ethics Committee granted its approval after receiving an ethical review. The primary endpoint of the proposed research was the removal of the gall bladder and CBD stones. The secondary outcomes studied were complications using the Clavien-Dindo score, cost-effectiveness, patient satisfaction score and post-procedure duration of hospital stay. RESULTS: A total of 168 patients were included in the study. The success rate of LC with laparoscopic CBD exploration using a flexible videobronchoscope (Group 1) was significantly higher as compared to ERCP f/b LC (Group 2) (96.4% vs. 84.5%, P value = 0.02). Out of the 84 patients in Group 1, direct choledochotomies were performed on 83 of them. Group 1 had a considerably shorter hospital stay (4.6 ± 2.4 vs. 5.3 ± 6.2 days; P = 0.03). Both the cost ( P = 0.002) and the number of procedures per patient ( P < 0.001) were considerably higher in Group 2. Major complications (Clavien-Dindo grade 3 and above) were significantly higher in Group 2 ( P = 0.04). Patient satisfaction in Group 1 scored more favourably than those in Group 2 (2.26 ± 0.3 vs. 1.92 ± 0.7; P = 0.006). CONCLUSION: For concurrent gall bladder and CBD stones, single-stage management by LCBDE using a flexible videobronchoscope has a significantly better primary outcome and lower major complications than dual-stage management. The single-stage strategy also has advantages in terms of a shorter hospital stay, the need for fewer procedures, cost efficiency and patient satisfaction.
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[This corrects the article DOI: 10.1016/j.ijregi.2021.10.008.].
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Surface modification by suitable technique aids in improving the characteristics of material to resist severe wear in demanding environments and challenging applications. The present study aims to analyse the tribological performance of Stainless Steel (SS304) reinforced with CoCrCuFeTi High Entropy Alloy (HEA) through friction stir processing and compares the results with annealed specimens. The CoCrCuFeTi HEA was ball milled and revealed irregular fragment particles with Body Centred Cubic (BCC) phase. The processed samples exhibited excellent refinement in grains with uniform HEA reinforcement distribution. The grains were observed to be in nano level post-annealing promoting exceptional microhardness. The pin-on-disc wear test was conducted by varying load (10-40N), sliding velocity (0.5-3.5 m/s) and sliding distance (500-2000 m) and the respective worn surface was analysed. The processed sample with HEA after annealing offered 29.8%, 57.4% and 58.49% improved wear resistance at the minimum level of load, sliding velocity and sliding distance than the processed base samples. The worn morphology revealed delamination, abrasion, adhesion and oxide layer formation to be the predominant wear mechanisms.
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In mice, periodic cycles of a fasting mimicking diet (FMD) protect normal cells while killing damaged cells including cancer and autoimmune cells, reduce inflammation, promote multi-system regeneration, and extend longevity. Here, we performed secondary and exploratory analysis of blood samples from a randomized clinical trial (NCT02158897) and show that 3 FMD cycles in adult study participants are associated with reduced insulin resistance and other pre-diabetes markers, lower hepatic fat (as determined by magnetic resonance imaging) and increased lymphoid to myeloid ratio: an indicator of immune system age. Based on a validated measure of biological age predictive of morbidity and mortality, 3 FMD cycles were associated with a decrease of 2.5 years in median biological age, independent of weight loss. Nearly identical findings resulted from a second clinical study (NCT04150159). Together these results provide initial support for beneficial effects of the FMD on multiple cardiometabolic risk factors and biomarkers of biological age.
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Dieta , Ayuno , Adulto , Humanos , Animales , Ratones , Preescolar , Longevidad , Hígado/diagnóstico por imagen , CausalidadRESUMEN
Backgrounds/Aims: Open cholecystectomy is becoming obsolete and laparoscopic cholecystectomy has become the treatment of choice in gallstone diseases. Difficult gallbladders are encountered whenever there is a frozen calot's triangle, obliterated cystic plate, or both. Rather than converting to open procedure, there has been a growing preference for laparoscopic subtotal cholecystectomy (LSC) during difficult gallbladders. This study aimed to assess the advantages, indications, and viability of LSC in difficult gallbladders. Methods: The study included patients undergoing laparoscopic cholecystectomy in NIMS Hospital, Jaipur, from January 2021 to January 2023. Data of the patients who underwent LSC for difficult gallbladders included demographics, comorbidities, operative time, conversion to open cholecystectomy, length of hospital stay, and complications. LSC was classified into three types depending on the part of the gallbladder remnant. Results: A total of 728 patients underwent laparoscopic cholecystectomy. Among them, 41 patients (5.6%) were attempted for LSC. However, one patient was converted to an open procedure and the rest 40 underwent LSC. LSC was divided into 3 types, 4 patients underwent LSC type I, 34 patients underwent type II, and 2 patients type III. The average operating time and postoperative length of hospital stay were 86.2 minutes and 2.1 days, respectively. Two patients had surgical site infection. No patient had a bile leak and none required intensive care unit care. Conclusions: LSC is a safe and feasible option for use in difficult gallbladders.
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Chronic obstructive pulmonary disease (COPD) remains a major public health problem with relatively high prevalence rates worldwide (5-13%). COPD is a major cause of morbidity and mortality worldwide and results in an economic and social burden that is both substantial and increasing. The purpose of the study was to explore the alteration of serum calcium in patients with COPD. This cross-sectional study was carried out in the Department of Biochemistry, Mymensingh Medical College, Bangladesh from January 2021 to December 2021. Data was collected from Medicine Department of Mymensingh Medical College Hospital, Mymensingh. A total number of 120 subjects participated in this study. Out of them, 60 apparently normal healthy individuals were selected as Group I and another 60 diagnosed COPD patients were selected as Group II. Serum calcium was measured by colorimetric method using the test kit. The results were calculated and analyzed by using statistical package for social science (SPSS), windows package version 21.0. Data were expressed in mean ±SD and statistical significance was done by Student's unpaired 't' test. In this study, the mean ±SD values of serum calcium were 9.21±1.06mg/dl and 8.26±0.95mg/dl in Group I and Group II respectively. The results were highly significant (p<0.001). The result suggested that there was significant relation between COPD and alteration of serum calcium. So, by this study we recommended that routine evaluation of serum calcium is important for prevention of exacerbations, reduction of morbidity and mortality in patients with COPD.
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Calcio , Enfermedad Pulmonar Obstructiva Crónica , Humanos , Estudios Transversales , Estudios de Casos y Controles , Bangladesh/epidemiologíaRESUMEN
The equimolar High Entropy Alloy (HEA) is incorporated on the surface of SS410 steel to enhance the mechanical properties for the current industrial scenario. The objective of the present work is to make a first attempt at surface modification of SS410 steel with gas atomization synthesized AlCrCoFeNi HEA powder through Friction Stir Processing (FSP). The microhardness and ultimate tensile strength of the FSP-HEA sample are increased by 41.3 % and 39.1 % respectively due to the high degree of refined grains with 2.84 µm and evenly distributed HEA particles. The wear rate of FSP-HEA samples is optimized by response surface methodology with process parameters including applied load, sliding distance, and sliding velocity. The most influential factor and regression model are derived from experimental results that predict the wear rate by the analysis of variance technique. The worn surface of FSP-HEA samples is evaluated by morphological analysis with corresponding induced wear mechanisms. The minimum wear rate is achieved by optimum process parameters along with higher hardness through particle-stimulated nucleation mechanism, Hall-Petch relation, and dynamic recrystallization. The grain refinement, barrier effect, and grain growth hindrance of HEA particles lead to enhancement in the strength of processed HEA samples.
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PURPOSE: To assess the correlation between primary open-angle glaucoma (POAG) and the risk of developing diabetic retinopathy (DR) in patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). DESIGN: A retrospective cohort study leveraging the global patient database of TriNetX Research Network. PARTICIPANTS: The study included 44 359 patients with diabetes mellitus (DM) with POAG and 4 393 300 patients with DM without any glaucoma ≥ 18 years of age. Propensity score matching harmonized the cohorts to 39 680 patients each, covering diagnoses from January 1, 2005, to January 1, 2023. METHODS: We analyzed data using specific International Classification of Diseases, 10th Revision (ICD-10) codes for DM and glaucoma. We matched the cohorts using propensity score matching, adjusting for age, sex, race/ethnicity, blood markers, relevant medical history, and ophthalmic service use. MAIN OUTCOME MEASURES: The primary outcome was the first-time occurrence of DR, including nonproliferative DR (NPDR) and proliferative DR (PDR), in patients with DM with and without glaucoma at 1-, 5-, and 10-year intervals from their individual index dates. RESULTS: At 10 years, patients with T1DM with POAG exhibited a heightened risk for any DR (adjusted risk ratios [RRs], 4.12; 95% confidence interval [CI], 3.05-5.57, P < 0.0001) and PDR (RR, 7.02; 95% CI, 3.62-13.61, P < 0.0001). Patients with T2DM and POAG also faced an increased 10-year risk for any DR (RR, 2.47; 95% CI, 2.28-2.68, P < 0.0001) and PDR (RR, 3.82; 95% CI, 3.09-4.70, P < 0.0001). The combined association of POAG on DR risk in those with T1DM and T2DM at 10 years was found to be significantly higher among patients with POAG (5.45%) compared with those without glaucoma (2.12%) (adjusted hazard ratio [aHR], 2.33; 95% CI, 2.14-2.53). The cumulative incidence of DR was significantly higher in the POAG group compared with nonglaucoma counterparts after a decade (log-rank P < 0.001). CONCLUSIONS: Our findings underscore a substantial association between POAG and DR development in both T1DM and T2DM patients, emphasizing the need for vigilant screening and comprehensive management in glaucomatous patients with DM to mitigate the risk of DR. Future research should delve into elucidating the causal mechanisms driving these observed associations. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Bases de Datos Factuales , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Retinopatía Diabética , Glaucoma de Ángulo Abierto , Humanos , Glaucoma de Ángulo Abierto/epidemiología , Glaucoma de Ángulo Abierto/diagnóstico , Retinopatía Diabética/epidemiología , Retinopatía Diabética/diagnóstico , Femenino , Masculino , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Estudios Retrospectivos , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Persona de Mediana Edad , Factores de Riesgo , Anciano , Adulto , Incidencia , Presión Intraocular/fisiologíaRESUMEN
OBJECTIVE: We aimed to compare the electroclinical correlates of truncating and missense variants of SCN1A variants in children with Dravet syndrome (DS) and to determine phenotypic features in relation to variants identified and seizure outcomes. METHODS: A single center prospective study was carried out on a South Indian cohort. Patients below 18 years of age who met the clinical criteria for DS who had undergone genetic testing and completed a minimum of one year follow up were included. We compared the differences in clinical profile, seizure outcome, developmental characteristics and anti-seizure medication (ASM) responsiveness profiles between patients with missense and truncating variants. RESULTS: Out of a total of 3967 children with drug-resistant epilepsy during the period 2015-2021, 49 patients who fulfilled the inclusion criteria were studied. Thirty-seven had positive genetic tests, out of which 29 were SCN1A variants and 9 were other novel variants. The proportion of missense (14; 48.3%) and truncating SCN1A variants (15; 51.7%) was similar. A significant trend for developing multiple seizure types was noted among children with truncating variants (p = 0.035) and seizure freedom was more likely among children with missense variants (p = 0.042). All patients with truncating variants had ASM resistant epilepsy (p = 0.020). Developmental outcomes did not differ between the variant subtypes. CONCLUSION: Our results show that children harbouring missense variants demonstrated a significantly lower propensity for multiple seizure subtypes and a higher proportion with seizure freedom. However developmental implications appear to be independent of variant subtype.
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Epilepsia Refractaria , Epilepsias Mioclónicas , Niño , Humanos , Estudios de Cohortes , Estudios Prospectivos , Epilepsias Mioclónicas/genética , Epilepsias Mioclónicas/tratamiento farmacológico , Canal de Sodio Activado por Voltaje NAV1.1/genética , Fenotipo , Convulsiones , Mutación/genéticaRESUMEN
Contemporary whole-body low-field MRI scanners (< 1 T) present new and exciting opportunities for improved body imaging. The fundamental reason is that the reduced off-resonance and reduced SAR provide substantially increased flexibility in the design of MRI pulse sequences. Promising body applications include lung parenchyma imaging, imaging adjacent to metallic implants, cardiac imaging, and dynamic imaging in general. The lower cost of such systems may make MRI favorable for screening high-risk populations and population health research, and the more open configurations allowed may prove favorable for obese subjects and for pregnant women. This article summarizes promising body applications for contemporary whole-body low-field MRI systems, with a focus on new platforms developed within the past 5 years. This is an active area of research, and one can expect many improvements as MRI physicists fully explore the landscape of pulse sequences that are feasible, and as clinicians apply these to patient populations.