Clinical Data Of Individuals Research Articles

Gastric and duodenal cancer in individuals with Lynch syndrome: a nationwide cohort study

Lynch syndrome increases the risk of gastric cancer (GC) and duodenal cancer (DC), particularly in individuals with MLH1 and MSH2 pathogenic variants (PVs). To provide further insight into whether, and from what age, esophagogastroduodenoscopy (EGD) surveillance may be beneficial, we evaluated the cumulative incidence and tumour characteristics of GC and DC in a large nationwide cohort of Dutch individuals with LS. For this retrospective nationwide cohort study, clinical data of individuals with LS registered at the Dutch Hereditary Cancer Registry were matched with pathology reports filed by the Dutch Pathology registry. All individuals registered between Jan 1, 1989 and Dec 31, 2021 with proven or putative PVs in one of the mismatch repair genes were included. Cumulative incidences of GC and DC were estimated for high-risk (MLH1, MSH2 and EpCAM) and low-risk (MSH6 and PMS2) PVs using competing risk methodology (Fine and Gray method) with death due to other causes as competing risk. Among 1002 individuals with high-risk and 765 individuals with low-risk PVs, 29GCs (1.6%) and 39 DCs (2.2%) were diagnosed. Cumulative incidence of GC and DC under the age of 50 was very low (≤1%) for all individuals. At age 70 and 75, cumulative incidence of GC was 3% [95% CI 1%-5%] and 5% [3%-8%] for high-risk PVs and 1% [0%-2%] and 1% [0%-2%] for low-risk PVs (p=0.006). For DC, cumulative incidence at age 70 and 75 was 5% [3%-7%] and 6% [3%-8%] in high-risk, 1% [0%-1%] and 2% [0%-4%] in low-risk PVs, respectively (p=0.01). Primary tumour resection was performed in 62% (18/29) of GCs and 77% (30/39) of DC cases. Early-stage GC, defined as TNM stage I, was found in 32% (9/28) of GCs. Early-stage DC, defined as TNM stage I-IIa, was found in 39% (14/36) of DCs. Individuals with MLH1, MSH2, and EpCAM PVs have an increased risk of developing GC and DC at the age of 70 years, but this risk is very low before the age of 50 years. The age of onset of surveillance, the yield of GC and DC during EGD surveillance, and its cost-effectiveness should be subject of future studies. None.

명리 운명론과 자유의지의 상호작용에 관한 고찰

The purpose of this study is to illuminate the influence of fatalism on life and prevent the detriment of excessive reliance on fatalism driven by anxieties about the future. According to fatalism, one's destiny is determined at the moment of birth, implying that individuals with identical birth charts should follow similar life trajectories; however, diverse life paths exist. This signifies limitations in deterministic views of fate and the presence of various variables, including free will. Therefore, this study explores the existence and scope of free will within Myeongri fatalism, offering an in-depth examination of the interaction between fatalism and free will. To conduct this research, clinical data of individuals with identical birth charts leading different lives were analyzed to investigate the interplay between fatalism and free will through the influences of diverse internal circumstances and choices in crucial aspects such as family environment, occupation, and spouse selection. The results suggest that choices made through free will can foster the development of individual abilities and talents. Furthermore, the study concludes that Myeongri and free will are not contradictory concepts but can, in fact, mutually complement each other

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance

AimsTo elucidate genetic background of early-onset high myopia (eoHM) and characteristics of ARR3-associated MYP26.MethodsVariants in 14 genes reported to contribute to eoHM, including ARR3, were selected from exome sequencing data...

The Netherlands Heart Tissue Bank : Strengthening the cardiovascular research infrastructure with an open access Cardiac Tissue Repository.

Cardiac diseases remain aleading cause of cardiovascular disease (CVD) related hospitalisation and mortality. That is why research to improve our understanding of pathophysiological processes underlying cardiac diseases is of great importance. There is astrong need for healthy and diseased human cardiac tissue and related clinical data to accomplish this, since currently used animal and in vitro disease models do not fully grasp the pathophysiological processes observed in humans. This design paper describes the initiative of the Netherlands Heart Tissue Bank (NHTB) that aims to boost CVD-related research by providing an open-access biobank. The NHTB, founded in June 2020, is anon-profit biobank that collects and stores biomaterial (including but not limited to myocardial tissue and blood samples) and clinical data of individuals with and without previously known cardiac diseases. All individuals aged ≥ 18years living in the Netherlands are eligible for inclusion as apotential future donor. The stored samples and clinical data will be available upon request for cardiovascular researchers. To improve the availability of cardiac tissue for cardiovascular research, the NHTB will include extensive (cardiac) biosamples, medical images, and clinical data of donors with and without apreviously known cardiac disease. As such, the NHTB will function as atranslational bridge to boost awide range of cardiac disease-related fundamental and translational studies.

International surveillance study in acute spinal cord injury confirms viability of multinational clinical trials

BackgroundThe epidemiological international landscape of traumatic spinal cord injury (SCI) has evolved over the last decades along with given inherent differences in acute care and rehabilitation across countries and jurisdictions. However, to what extent these differences may influence neurological and functional recovery as well as the integrity of international trials is unclear. The latter also relates to historical clinical data that are exploited to inform clinical trial design and as potential comparative data.MethodsEpidemiological and clinical data of individuals with traumatic and ischemic SCI enrolled in the European Multi-Center Study about Spinal Cord Injury (EMSCI) were analyzed. Mixed-effect models were employed to account for the longitudinal nature of the data, efficiently handle missing data, and adjust for covariates. The primary outcomes comprised demographics/injury characteristics and standard scores to quantify neurological (i.e., motor and sensory scores examined according to the International Standards for the Neurological Classification of Spinal Cord Injury) and functional recovery (walking function). We externally validated our findings leveraging data from a completed North American landmark clinical trial.ResultsA total of 4601 patients with acute SCI were included. Over the course of 20 years, the ratio of male to female patients remained stable at 3:1, while the distribution of age at injury significantly shifted from unimodal (2001/02) to bimodal distribution (2019). The proportional distribution of injury severities and levels remained stable with the largest percentages of motor complete injuries. Both, the rate and pattern of neurological and functional recovery, remained unchanged throughout the surveillance period despite the increasing age at injury. The findings related to recovery profiles were confirmed by an external validation cohort (n=791). Lastly, we built an open-access and online surveillance platform (“Neurosurveillance”) to interactively exploit the study results and beyond.ConclusionsDespite some epidemiological changes and considerable advances in clinical management and rehabilitation, the neurological and functional recovery following SCI has remained stable over the last two decades. Our study, including a newly created open-access and online surveillance tool, constitutes an unparalleled resource to inform clinical practice and implementation of forthcoming clinical trials targeting neural repair and plasticity in acute spinal cord injury.

A Correction Insulin Bolus Delivery Strategy for Decision Support Systems in Type 1 Diabetes.

Management of type 1 diabetes (T1D) requires affected individuals to perform multiple daily actions to keep their blood glucose levels within the safe rage and avoid adverse hypo-/hyperglycemic episodes. Decision support systems (DSS) for T1D are composite tools that implement multiple software modules aiming to ease such a burden and to improve glucose control. At the University of Padova, we are developing a new DSS that currently integrate a smart insulin bolus calculator for optimal insulin dosing and a rescue carbohydrate intake advisor to tackle hypoglycemia. However, a module specifically targeting hyperglycemia, that suggests the administration of corrective insulin boluses (CIB), is still missing. For such a scope, this work aims to assess a recent literature methodology, proposed by Aleppo et al., which provides a simple strategy for dealing with hyperglycemia. The methodology is tested retrospectively on clinical data of individuals with T1D. In particular, here we leveraged a novel in silico tool that first identifies a non-linear model of glucose-insulin dynamics on data, then uses such model to simulate and compare the glucose trace obtained by "replaying" the recorded scenario and the glucose trace obtained using the CIB delivery strategy under evaluation. Results show that the CIB delivery strategy significantly reduce the percentage of time spent in hyperglycemia (-15.63%) without inducing any hypoglycemic episode, demonstrating both safety and efficacy of its use. These preliminary results suggest that the CIB delivery strategy proposed by Aleppo et al. is a promising candidate to be included in our system to counteract hyperglycemia. Future work will extensively evaluate the methodology and will compare it against other competing approaches.

PRE-DETECTION OF DISEASES WITH DEEP LEARNING METHOD AND AN APPLICATION ON DIABETES

Diabetes is a chronic disorder caused by the inability of the pancreas to provide adequate insulin or to insure the body is not consumable. The height of the headingexperses of diabetes, which is caused by serious complications. After a certain time, there are serious complications such as eye diseases, cardiovascular diseases, kidney diseases, diabetes, the height of remediation experses and the person who is uncomfortable with the cause of loss of labour, socioeconomic is an important health problem forthecreation of boredom. Diabetes is often manifested by the average age in our ages and in adults. And because of these conditions, early diagnosis is important in diabetes as well as in many diseases. Different chemical tests are performed in blood and urine for diagnosis. In this study, the clinical data of individuals were examined and the data mining techniques were determined to determine whether individuals were diabetic.

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

BackgroundCongenital symmetric circumferential skin creases (CSCSC) was initially described five decades ago. Exome sequencing has recently revealed the genetic etiology of CSCSC. Pathogenic variants in TUBB (OMIM# 191130) and MAPRE2 (OMIM# 605789) have been linked to CSCSC1 (OMIM# 156610) and CSCSC2 (OMIM# 616734), respectively, in an autosomal dominant manner. Four pathogenic variants in MAPRE2 have been previously reported to be associated with CSCSC2.MethodsWhole‐exome sequencing (WES) has been performed and an in‐house pipeline was used to conduct a phenotype‐driven data analysis. All candidate variants were confirmed by Sanger sequencing.ResultsHere we report a 2‐year‐old boy characterized by absent expressive speech, normal to mild over growth, facial dysmorphic features, remarkable circumferential skin creases on both forearms and ankles. WES disclosed a de novo missense MAPRE2 variant, c.518G>A (p.Arg173Gln), as the molecular cause of this complex phenotype. We described detailed clinical characterization of this patient and compared the available clinical data of individuals with MAPRE2 variants to demonstrate the phenotypic spectrum.ConclusionOur study reports the first patient of Asian origin with CSCSC2 due to a pathogenic mutation of MAPRE2 and expands the clinical and genetic spectrum of CSCSC2.

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

ObjectiveChromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study...

Semantic Verbal Fluency test in dementia: Preliminary retrospective analysis.

The Semantic Verbal Fluency (SVF) test entails the generation of words from a given category within a pre-set time of 60 seconds.ObjectivesTo verify whether socio-demographic and clinical data of individuals with dementia correlate with the performance on the SVF test and to ascertain whether differences among the criteria of number of answers, clusters and data spread over the intervals, predict clinical results.MethodsThis was a retrospective study of 49 charts of demented patients classified according to the Clinical Dementia Rating (CDR) scale. We correlated education, age and gender, as well as CDR and Mini-Mental State Exam (MMSE) scores with the number of answers, clustering and switching distributed over four 15-second intervals on the SVF test.ResultsThe correlation between number of answers and quartiles was weak (r=0.407, p=0.004; r=0.484, p< 0.001) but correlation between the number of clusters and responses was strong (r=0.883, p< 0.001). The number of items on the SVF was statistically significant with MMSE score (p=0.01) and there was a tendency for significance on the CDR (p=0.06). The results indicated little activity regarding what we propose to call cluster recalling in the two groups.DiscussionThe SVF test, using number of items generated, was found to be more effective than classic screening tests in terms of speed and ease of application in patients with CDR 2 and 3.

Prevalence of precore mutants in anti-HBe-positive hepatitis B virus carriers in Germany

Hepatitis B virus (HBV) precore mutants are associated often with highly productive infection in hepatitis B surface antigen (HBsAg) carriers lacking hepatitis B e antigen (HBeAg) but positive for anti-HBe, rendering serological identification of infectious individuals unreliable. Although considered initially to be limited mostly to the Mediterranean area, more recent studies suggest a significant presence of these mutants in northern European countries. The sequence of the precore region was determined and examined for mutations from HBV isolates of 99 German chronic HBsAg carriers positive for HBV-DNA and either HBeAg (n = 15) or anti-HBe (n = 84). In addition, clinical data of individuals carrying wild-type virus and those with precore mutants were compared. HBV precore mutants were found in more than half (44/84) of all HBeAg-negative, anti-HBe-positive virus carriers. There was no difference between carriers of wild-type and precore mutant HBV in the level of viremia or in the clinical course of chronic infection. In conclusion, HBV precore mutants are common in Germany and can therefore present a diagnostic problem for serological testing. However, precore mutants do not appear to have a detrimental effect on the course of chronic HBV infection.