Standard Clinical Tests Research Articles

Guidelines for the prescription of standard hematology and biochemistry clinical laboratory tests in the intensive care unit: A scoping review protocol.

This scoping review protocol describes the strategy for a scoping review that aims to provide a comprehensive overview of published guidelines for the prescription of standard laboratory tests performed in intensive care unit (ICU) patients. The use of clinical laboratories is constantly increasing. However, there is evidence of inappropriate use. Inappropriate laboratory testing has the potential to harm patients, increase costs, burden staff, and has an environmental impact. Effective management can be achieved through demand managing strategies, such as providing guidelines on performing the appropriate test, for the right patient, at the right time. Although national and international guidelines exist for individual tests, a comprehensive summary of available recommendations for laboratory testing in the ICU is currently unavailable. This scoping review will incorporate documents that provide explicit advice on which test to perform in ICU patients. We selected 34 tests routinely ordered in the ICU. This review will consider any document type that matches our concept and context. We will consider gray literature with appropriate adherence to guidelines methodology. We will not limit the review by geographical location, but will only include articles published in English. Our scoping review will follow the Joanna Brigg Institute (JBI) methodology. We will search Medline (PubMed), Embase, Scopus, Google Scholar, and Google. Our search strategy adheres to the JBI 3-step construction approach for systematic reviews. We will search for keywords related to guidelines, laboratory testing, and the 34 selected tests. We will report our study using the S1 Checklist. Review registration number: osf.io/yfs9z.

Iron deficiency and obesity in children: is there a relationship?

A close relationship between obesity and iron metabolism has been proven. Aim. To study the features of iron metabolism in obese children by evaluating dietary iron intake and the level of laboratory markers of iron status, with the goal of improving prevention and correction of identified disorders in this cohort of children. Materials and methods. The actual dietary iron intake was assessed in 75 obese children aged 7-17 years using the Optimal Nutrition 5.0 software. A set of clinical and laboratory research methods was performed in 30 children to identify iron deficiency, as well as a questionnaire on the symptoms of iron deficiency. Results. One third of children have insufficient iron intake with food. Most of the examined children complained and had clinical symptoms characteristic of iron deficiency in the body. 86.7% of obese children had one or more signs of iron deficiency. Laboratory diagnostics using only a general clinical blood test showed insufficient detection of iron deficiency: only in 13.3% of children this analysis showed the presence of abnormalities characteristic of iron deficiency. In the other children, it was detected after a biochemical blood test. Conclusions. The majority of obese children show both clinical and laboratory evidence of iron deficiency, which may contribute to the pathogenesis of obesity-related conditions. Biochemical blood tests are essential for accurate diagnosis of iron deficiency, as standard clinical blood test may not always show the presence of iron deficiency. The high prevalence of iron deficiency indicates the need for targeted nutritional iron support for obesity in children.

A validated heart-specific model for splice-disrupting variants in childhood heart disease

BackgroundCongenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests. Recent computational algorithms such as SpliceAI have shown an ability to predict such variants, but are not specific to cardiac-expressed genes and transcriptional isoforms.MethodsWe used genome sequencing (GS) (n = 1101 CHD probands) and myocardial RNA-Sequencing (RNA-Seq) (n = 154 CHD and n = 43 cardiomyopathy probands) to identify and validate splice disrupting variants, and to develop a heart-specific model for canonical and non-canonical splice variants that can be applied to patients with CHD and cardiomyopathy. Two thousand five hundred seventy GS samples from the Medical Genome Reference Bank were analyzed as healthy controls.ResultsOf 8583 rare DNA splice-disrupting variants initially identified using SpliceAI, 100 were associated with altered splice junctions in the corresponding patient myocardium affecting 95 genes. Using strength of myocardial gene expression and genome-wide DNA variant features that were confirmed to affect splicing in myocardial RNA, we trained a machine learning model for predicting cardiac-specific splice-disrupting variants (AUC 0.86 on internal validation). In a validation set of 48 CHD probands, the cardiac-specific model outperformed a SpliceAI model alone (AUC 0.94 vs 0.67 respectively). Application of this model to an additional 947 CHD probands with only GS data identified 1% patients with canonical and 11% patients with non-canonical splice-disrupting variants in CHD genes. Forty-nine percent of predicted splice-disrupting variants were intronic and > 10 bp from existing splice junctions. The burden of high-confidence splice-disrupting variants in CHD genes was 1.28-fold higher in CHD cases compared with healthy controls.ConclusionsA new cardiac-specific in silico model was developed using complementary GS and RNA-Seq data that improved genetic yield by identifying a significant burden of non-canonical splice variants associated with CHD that would not be detectable through panel or exome sequencing.

Understanding the Prevalence and Risk Factor Profile of Olfactory Impairment and Its Impact on Patient Health Indicators and Economic Outcomes in Community-Dwelling Older Asian Adults.

There is a paucity of data on the prevalence, risk factors, and impact of olfactory impairment (OI) on key health indicators and economic outcomes in Asian populations. We aimed to address these gaps in a population of community-dwelling older adults. We included 2101 participants (mean age ± standard deviation [SD]: 72.9 ± 8.1 years; 55.1% women) from the baseline assessment of the Population Health and Eye Disease Profile in Elderly Singaporeans (PIONEER) study (2017-2022). Any OI was based on a score of <11 on the 16-item identification segment of the Sniffin' Sticks test battery; subcategorized into hyposmia (score 9-10) and anosmia (score ≤8). Sociodemographic, clinical, and lifestyle risk determinants, health indicators (health-related quality of life, depressive symptoms, daily caloric intake, frailty, and cognitive impairment), and economic outcomes (healthcare expenditure, productivity loss) were assessed via standardized clinical testing and validated questionnaires. Multivariable logistic and linear regression models were utilized to explore the risk factor profile of OI across its severity spectrum and its impact on health indicators and economic outcomes. The census-adjusted prevalence of any OI, hyposmia, and anosmia were 34.0%, 20.5%, and 13.5%, respectively. Older age and male gender were associated with increased likelihood of hyposmia and anosmia, while the presence of diabetes and >4 days/week alcohol consumption were associated with increased odds of having anosmia only (all p < .05). Both hyposmia and anosmia were also associated with more than twofold increased odds of having CI. Over a third of our community-dwelling older Singaporean population had OI, with 1-in-10 experiencing total olfaction loss. Those with OI had more than double the odds of having CI, regardless of its severity. Our results suggest the importance of community-based programs aimed at detecting and delaying the progression of OI in high-risk individuals.

Eccentricity Dependency of Retinal Electrophysiological Deficits in People With Episodic Migraine.

During the non-attack period, people with migraine may show retinal dysfunction. This study builds on previous work by exploring the possibility of foveal and non-foveal visual field and electroretinographic deficits and determining the overlap in eccentricity of such localized visual deficits in people with migraine. Visual fields and multifocal electroretinography (mf-ERG) were tested in 27 people with migraine (aged 19-45 years) and 18 non-headache controls (aged 20-46 years). Data were averaged according to 5 concentric rings at < 1.5 degrees (foveal) and 5 degrees, 10 degrees, 15.5 degrees, and 22 degrees eccentricities (non-foveal). Linear mixed effects modelling was used to predict mf-ERG amplitude, mf-ERG peak time, and visual field sensitivity with fixed effects of eye, group, and eccentricity. Foveal mf-ERG responses, and visual field sensitivity across all eccentricities (foveal and non-foveal) were similar between the migraine and control groups (P>0.05). In contrast, the non-foveal mf-ERG was reduced in amplitude in people with migraine relative to controls (P<0.001), and this group difference depended on eccentricity (P<0.001) - most prominently, in the parafoveal region (ring 2, P=0.001). Retinal electrophysiological deficits were observed in people with migraine in the parafoveal region (between 1.5 degrees and 5 degrees eccentricity), without corresponding visual field deficits. This suggests a spatially localized area of retinal neuronal dysfunction in people with migraine that is insufficient to manifest as a visual field sensitivity loss using standard perimetric methods. Our study highlights the added confound of migraine when conducting standard clinical retinal electrophysiological tests for conditions such as glaucoma, particularly non-foveally.

Differentiation of Prior SARS-CoV-2 Infection and Postacute Sequelae by Standard Clinical Laboratory Measurements in the RECOVER Cohort.

There are currently no validated clinical biomarkers of postacute sequelae of SARS-CoV-2 infection (PASC). To investigate clinical laboratory markers of SARS-CoV-2 and PASC. Propensity score-weighted linear regression models were fitted to evaluate differences in mean laboratory measures by prior infection and PASC index (≥12 vs. 0). (ClinicalTrials.gov: NCT05172024). 83 enrolling sites. RECOVER-Adult cohort participants with or without SARS-CoV-2 infection with a study visit and laboratory measures 6 months after the index date (or at enrollment if >6 months after the index date). Participants were excluded if the 6-month visit occurred within 30 days of reinfection. Participants completed questionnaires and standard clinical laboratory tests. Among 10 094 participants, 8746 had prior SARS-CoV-2 infection, 1348 were uninfected, 1880 had a PASC index of 12 or higher, and 3351 had a PASC index of zero. After propensity score adjustment, participants with prior infection had a lower mean platelet count (265.9 × 109 cells/L [95% CI, 264.5 to 267.4 × 109 cells/L]) than participants without known prior infection (275.2 × 109 cells/L [CI, 268.5 to 282.0 × 109 cells/L]), as well as higher mean hemoglobin A1c (HbA1c) level (5.58% [CI, 5.56% to 5.60%] vs. 5.46% [CI, 5.40% to 5.51%]) and urinary albumin-creatinine ratio (81.9 mg/g [CI, 67.5 to 96.2 mg/g] vs. 43.0 mg/g [CI, 25.4 to 60.6 mg/g]), although differences were of modest clinical significance. The difference in HbA1c levels was attenuated after participants with preexisting diabetes were excluded. Among participants with prior infection, no meaningful differences in mean laboratory values were found between those with a PASC index of 12 or higher and those with a PASC index of zero. Whether differences in laboratory markers represent consequences of or risk factors for SARS-CoV-2 infection could not be determined. Overall, no evidence was found that any of the 25 routine clinical laboratory values assessed in this study could serve as a clinically useful biomarker of PASC. National Institutes of Health.

Oculometric biomarkers of visuomotor deficits in clinically asymptomatic patients with systemic lupus erythematosus undergoing long-term hydroxychloroquine treatment.

This study examines a set of oculomotor measurements, or "oculometric" biomarkers, as potential early indicators of visual and visuomotor deficits due to retinal toxicity in asymptomatic Systemic Lupus Erythematosus (SLE) patients on long-term hydroxychloroquine (HCQ) treatment. The aim is to identify subclinical functional impairments that are otherwise undetectable by standard clinical tests and to link them to structural retinal changes. We measured oculomotor responses in a cohort of SLE patients on chronic HCQ therapy using a previously established behavioral task and analysis technique. We also examined the relationship between oculometrics, OCT measures of retinal thickness, and standard clinical perimetry measures of visual function in our patient group using Bivariate Pearson Correlation and a Linear Mixed-Effects Model (LMM). Significant visual and visuomotor deficits were found in 12 asymptomatic SLE patients on long-term HCQ therapy compared to a cohort of 17 age-matched healthy controls. Notably, six oculometrics were significantly different. The median initial pursuit acceleration was 22%, steady-state pursuit gain 16%, proportion smooth 7%, and target speed responsiveness 31% lower, while catch-up saccade amplitude was 46% and fixation error 46% larger. Excluding the two patients with diagnosed mild toxicity, four oculometrics, all but fixation error and proportion smooth, remained significantly impaired compared to controls. Across our population of 12 patients (24 retinae), we found that pursuit latency, initial acceleration, steady-state gain, and fixation error were linearly related to retinal thickness even when age was accounted for, while standard measures of clinical function (Mean Deviation and Pattern Standard Deviation) were not. Our data show that specific oculometrics are sensitive early biomarkers of functional deficits in SLE patients on HCQ that could be harnessed to assist in the early detection of HCQ-induced retinal toxicity and other visual pathologies, potentially providing early diagnostic value beyond standard visual field and OCT evaluations.

Evaluation of Diet and Symptom Severity in Disorder of Gut-Brain Interaction.

Background: Disorders of gut-brain interaction are chronic or recurrent symptoms originating in the gastrointestinal tract that cannot be substantiated by the results of standard clinical tests, such as radiologic studies, morphologies, or endoscopic examination. The diagnosis of these disorders is mainly based on symptoms and the standardized Rome IV criteria. These criteria classify functional disorders of the gastrointestinal tract according to anatomical location and define each disorder according to a set of symptoms. Methods: This study was conducted between October 2021 and February 2022. Participants in the study were patients of a gastroenterology outpatient clinic with a functional disease diagnosed by a gastroenterologist. A questionnaire was used to conduct the study, with questions regarding perceived functional discomforts of the gastrointestinal tract, dietary changes to alleviate discomforts, and frequency of consumption of various food groups. Results: Based on the study, statistical significance was demonstrated between the gender of the respondents and the severity of gastrointestinal complaints after the consumption of legumes and alcohol. The analysis performed confirmed the correlation between the age of the respondents and the severity of complaints when consuming raw vegetables and fruits, brassica vegetables, legumes, fried products, and spicy products. There was also a significant correlation between the body mass index (BMI) of the respondents and the severity of complaints after alcohol consumption. Conclusions: The results identify abdominal pain, bloating, and constipation as the most commonly reported gastrointestinal symptoms among participants. The association between the consumption of certain foods, such as milk and dairy products, as well as fried and fatty foods, and the severity of disorders of gut-brain interaction symptoms was confirmed. Despite this, the majority of respondents did not eliminate any food products to alleviate the discomfort.

Live Rotavirus Vaccination Appears Low-risk in Infants Born to Mothers With Inflammatory Bowel Disease on Biologics

Biologic therapies in the context of inflammatory bowel disease and pregnancy lead to improved maternal and fetal outcomes. Placental transfer results in detectable drug concentrations in infants. Rotavirus infection results in diarrheal related hospitalizations; however, the live oral vaccine is not currently recommended in biologic exposed infants. The aim of this study was to assess the effect of maternal biologic therapies on the infant immune system and safety of live rotavirus vaccination in biologic-exposed infants. Biologic-exposed infants underwent standardized clinical assessments, drug concentration, and immune function testing (complete blood count, differential, immunoglobulin levels, extended B-cell and T-cell subset enumeration, Recent Thymic Emigrants, regulatory T-cell numbers, mitogen stimulation assays, and review of T-cell Receptor Excision Circles in the newborn screen). Rotavirus vaccine-specific adverse effects following immunizations up to 42 days post the last dose of the vaccine series were recorded. There were 57 infants born to 52 mothers with inflammatory bowel disease exposed to infliximab (n= 21), adalimumab (n= 19), vedolizumab (n= 10), and ustekinumab (n= 7) in the third trimester for a median of 39 weeks (interquartile range, 38-39 weeks) at delivery. Immunologic assessments validated for age were normal in all infants despite median infliximab concentrations of 6.1 ug/mL (range, 0.4-28.8 ug/mL), adalimumab concentrations of 1.7ug/mL (range, 0.7-7.9 ug/mL), ustekinumab concentrations of 0.6 ug/mL (range, 0-1.1), and undetectable for vedolizumab at 10.7 weeks (interquartile range, 9.4-12.4) of age. The live oral rotavirus vaccine series was provided to 50 infants with the first dose given at a median of 13weeks of age. No adverse effects following immunization were reported. Immune function testing was normal, and administration of live rotavirus vaccination appeared low-risk in biologic-exposed infants irrespective of circulating drug levels.

The Role of Alpha-Synuclein and Tubulin-Associated Unit (Tau) Proteins in the Diagnosis, Prognosis, and Treatment of Parkinson's Disease: A Systematic Review.

Parkinson's disease (PD) is a degenerative neurological disorder resulting from the death of dopaminergic neurons, which, in turn, results in impaired motor and cognitive functions. Early diagnosis is important in achieving a good prognosis for PD. Currently, the only approved way to diagnose PD is through medical history, current symptoms, and neurological examination. This, however, can only happen after PD progresses far enough in patients. Biomarkers in cerebrospinal fluid (CSF) and blood plasma, however, may provide insight into the early progress of PD and potentially concurrent dementia, which can also aid in the development of novel treatments. Specifically, this systematic review explores alpha-synuclein (α-syn) and tubulin-associated unit (Tau) proteins and analyzes their potential roles as biomarkers while also touching on nilotinib and immunotherapy as potential treatment options. PubMed, PubMed Central (PMC), Medline, and Cochrane Library serve as the databases for relevant literature, upon which eligibility criteria and quality checks - Assessment of Multiple Systematic Review (AMSTAR) tool, Newcastle-Ottawa Quality Assessment Scale, Cochrane risk-of-bias assessment 2 (RoB2), and Scale for the Assessment of Narrative Review (SANRA) - were applied. The remaining literature examines the various aspects of PD and Parkinson's disease dementia (PDD) and associated biomarkers. From 10 studies, 2,361 participants, both PD patients and healthy controls (HCs), were assessed and compared. Various assessment scales, such as the Unified Parkinson's Disease Rating Scale part III (UPDRS III), were used to ascertain the severity or progression of PD in patients while also seeking a noticeable correlation with α-syn and total Tau (t-Tau). The lack of standardized clinical testing has led to conflicting reports. Thus, while the articles generally agree on the potential efficacy of α-syn and Tau protein analysis in the diagnosis, prognosis, and treatment of PD and PDD, they also argue for further testing and trials.

Innovations and applications of ketone body monitoring in diabetes care.

Ketone bodies, comprising β-hydroxybutyric acid (BHB), acetoacetate (AcAc), and acetone, play a vital role as essential energy substrates. In individuals with diabetes, ketone bodies can be elevated under various conditions, including diabetic ketoacidosis, use of sodium-glucose transporter type 2 (SGLT2) inhibitors, and extreme carbohydrate restriction. There are three methods for measuring ketone bodies. Urine ketone analysis (AcAc) is a standard clinical test, whereas blood ketone testing (BHB+AcAc) is valuable in identifying or resolving diabetic ketoacidosis. Recently, technology for measuring breath acetone has been introduced, which provides an easy means of monitoring ketogenic diets in obese individuals. The basic breath alcohol detector also reacts with breath acetone. Therefore, it is important for professional drivers taking SGLT2 inhibitors to be cautious as workplace breath alcohol detectors may show false-positive results. Conversely, if a positive result is obtained, a detailed examination of ketosis is necessary. This review provides an overview of ketone body measurements in individuals with diabetes.

Aging of deep venous thrombosis in-vivo using polarization sensitive optical coherence tomography.

Deep venous thrombosis (DVT) is a medical condition with significant post-event morbidity and mortality coupled with limited treatment options. Treatment strategy and efficacy are highly dependent on the structural composition of the thrombus, which evolves over time from initial formation and is currently unevaluable with standard clinical testing. Here, we investigate the use of intravascular polarization-sensitive optical coherence tomography (PS-OCT) to assess thrombus morphology and composition in a rat DVT model in-vivo, including changes that occur over the thrombus aging process. PS-OCT measures tissue birefringence, which provides contrast for collagen and smooth muscle cells that are present in older, chronic clots. Thrombi in the inferior vena cava of two cohorts of rats were imaged in-vivo with intravascular PS-OCT at 24 hours (acute, nrats = 3, 73 cross-sections) or 28 days (chronic, nrats = 4, 41 cross-sections) after thrombus formation. Co-registered histology was labelled by an independent pathologist to establish ground-truth clot composition. Automated analysis of OCT cross-sectional images differentiated acute and chronic thrombi with 97.6% sensitivity and 98.6% specificity using a linear discriminant model comprised of both polarization and conventional OCT metrics. These results support PS-OCT as a highly sensitive imaging modality for the assessment of DVT composition to differentiate acute and chronic thrombi. Intravascular PS-OCT imaging could be integrated with advanced catheter-based treatment strategies and serve to guide therapeutic decision-making and deployment, by offering an accurate assessment of DVT patients in real time.

Association Between Acquired Punctal Stenosis and Ocular Surface Disease: the Egg and the Chicken Story

ABSTRACT Purpose This study explores the relationship between acquired punctal stenosis (PS) and ocular surface disease (OSD), assessing causal mechanisms and clinical impacts, utilizing a combination of a comprehensive literature review and a detailed analysis of a patient cohort from a tertiary care center. Methods Data from 213 PS patients at Sheba Medical Center were retrospectively analyzed, evaluating various OSD symptoms and treatment effectiveness through standardized clinical assessments and statistical tests. Results Predominantly older and female, many patients exhibited bilateral PS. OSD symptoms were found in 35.2% of all patients. Treatments like punctoplasty with stents significantly alleviated symptoms. Significant associations between treatment modalities and symptom improvement were identified. Conclusions PS and OSD have acomplex, bidirectional relationship that complicates treatment outcomes. This study underscores the need for thorough diagnostic approaches and personalized treatments to improve PS management. Further research is essential to deepen understanding of PS-OSD interactions and develop effective therapies.

The Assessment of Vision in Children with Severe Learning Difficulties: A Systematic Review

The Assessment of Vision in Children with Severe Learning Difficulties: A Systematic Review

Communication Under Sharply Degraded Auditory Input and the "2-Sentence" Problem.

Despite performing well in standard clinical assessments of speech perception, many cochlear implant (CI) users report experiencing significant difficulties when listening in real-world environments. We hypothesize that this disconnect may be related, in part, to the limited ecological validity of tests that are currently used clinically and in research laboratories. The challenges that arise from degraded auditory information provided by a CI, combined with the listener's finite cognitive resources, may lead to difficulties when processing speech material that is more demanding than the single words or single sentences that are used in clinical tests. Here, we investigate whether speech identification performance and processing effort (indexed by pupil dilation measures) are affected when CI users or normal-hearing control subjects are asked to repeat two sentences presented sequentially instead of just one sentence. Response accuracy was minimally affected in normal-hearing listeners, but CI users showed a wide range of outcomes, from no change to decrements of up to 45 percentage points. The amount of decrement was not predictable from the CI users' performance in standard clinical tests. Pupillometry measures tracked closely with task difficulty in both the CI group and the normal-hearing group, even though the latter had speech perception scores near ceiling levels for all conditions. Speech identification performance is significantly degraded in many (but not all) CI users in response to input that is only slightly more challenging than standard clinical tests; specifically, when two sentences are presented sequentially before requesting a response, instead of presenting just a single sentence at a time. This potential "2-sentence problem" represents one of the simplest possible scenarios that go beyond presentation of the single words or sentences used in most clinical tests of speech perception, and it raises the possibility that even good performers in single-sentence tests may be seriously impaired by other ecologically relevant manipulations. The present findings also raise the possibility that a clinical version of a 2-sentence test may provide actionable information for counseling and rehabilitating CI users, and for people who interact with them closely.

Capillary electrophoresis-mass spectrometry for creatinine analysis in residual clinical plasma samples and comparison with gold standard assay.

When hospitalized, infants, particularly preterm, are often subjected to multiple painful needle procedures to collect sufficient blood for metabolic screening or diagnostic purposes using standard clinical tests. For example, at least 100µL of whole blood is required to perform one creatinine plasma measurement with enzymatic colorimetric assays. As capillary electrophoresis-mass spectrometry (CE-MS) utilizing a sheathless porous tip interface only requires limited amounts of sample for in-depth metabolic profiling studies, the aim of this work was to assess the utility of this method for the determination of creatinine in low amounts of plasma using residual blood samples from adults and infants. By using a starting amount of 5µL of plasma and an injection volume of only 6.7nL, a detection limit (S/N=3) of 30nM could be obtained for creatinine, and intra- and interday precisions (for peak area ratios) were below 3.2%. To shorten the electrophoretic separation time, a multi-segment injection (MSI) strategy was employed to analyze up to seven samples in one electrophoretic run. The findings obtained by CE-MS for creatinine in pretreated plasma were compared with the values acquired by an enzymatic colorimetric assay typically used in clinical laboratories for this purpose. The comparison revealed that CE-MS could be used in a reliable way for the determination of creatinine in residual plasma samples from infants and adults. Nevertheless, to underscore the clinical efficacy of this method, a subsequent investigation employing an expanded pool of plasma samples is imperative. This will not only enhance the method's diagnostic utility but also contribute to minimizing both the amount and frequency of blood collection required for diagnostic purposes.

DIAGNOSIS AND TREATMENT OF ACUTE ACHILLES TENDON RUPTURE: A COMPREHENSIVE SYSTEMATIC REVIEW

Background: Achilles tendon rupture is a common orthopaedic injury that results in substantial functional limitations throughout a lengthy recovery time. The increasing incidence of Achilles tendon ruptures has been well documented in population-based studies. The delayed treatment of AT ruptures is usually attributable to either poor diagnosis upon injury or patients disregarding their injuries and not presenting to healthcare facilities. The aim: The aim of this study to show about diagnosis and treatment of acute achilles tendon rupture. Methods: By the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) 2020, this study was able to show that it met all of the requirements. This search approach, publications that came out between 2014 and 2024 were taken into account. Several different online reference sources, like Pubmed, SagePub, and Google Scholar were used to do this. It was decided not to take into account review pieces, works that had already been published, or works that were only half done. Result: In the PubMed database, the results of our search get 17 articles, whereas the results of our search on SagePub get 299 articles, on Google Scholar 6990 articles. Records remove before screening are 5317, so we get 1989 articles fos screening. After we screened based on record exclude, we compiled a total of 12 papers. We included five research that met the criteria. Conclusion: Multiple evaluative techniques including the addition of diagnostic ultrasound imaging and continuous shear wave elastography (cSWE) to standard clinical tests and measures were used to assess patient-reported symptoms, tendon structure, and tendon functional performance. As treatment recommendations and strategies evolve, decisional conflict may arise when patients with Achilles tendon ruptures are faced with the need to choose a management option. There have been several reviews of management strategies, primarily focused on pairwise comparisons between individual operative and non-operative strategies.

Anterior Cruciate Ligament Over-The-Top Plus Lateral Plasty and Minimally Invasive Double-Bundle Posteromedial Corner Reconstruction

The medial collateral ligament (MCL) and the posteromedial corner (PMC) of the knee are essential structures for maintaining medial knee stability. Chronic MCL instability is infrequent but can necessitate surgical intervention. Various surgical techniques have been described, but they often involve the use of tibial tunnels, which may complicate concurrent ligament reconstructions. This study aims to present a minimally invasive double-bundle PMC reconstruction technique that avoids the use of tibial tunnels. Knee evaluation was performed using standard clinical tests and 1.5-Tesla magnetic resonance imaging. Patients with grade III Hughston MCL injuries were considered for surgery. The technique employs either an autologous semitendinosus graft or a fresh-frozen allograft, usually tibialis anterior, to reconstruct both the superficial MCL and the posterior oblique ligament. The technique described avoids the use of tibial tunnels, preserving tibial bone stock for any future procedures. The graft is secured at the femoral and tibial insertions using bioabsorbable interference screws and titanium staples, respectively. Our minimally invasive double-bundle PMC reconstruction technique offers a feasible and effective solution for patients with chronic medial knee instability. It is particularly beneficial for patients requiring multiple ligament reconstructions, as it avoids tunnel collision and preserves tibial bone stock.

Outcome measures in Angelman syndrome

BackgroundAngelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children’s functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials.AimOur first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype.MethodsThe study sample consisted of 28 children with AS aged 2–18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored.ResultsOutcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD).ConclusionsEye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition.Trial registrationRegistered d.d. 23-04-2020 under number ‘NL8550’ in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075

Acute clinical evaluation for the diagnosis of lateral ankle ligament injuries is useful: A comparison between the acute and delayed settings.

To determine the diagnostic value of seven injury history variables, nine clinical tests (including the combination thereof) and overall clinical suspicion for complete discontinuity of the lateral ankle ligaments in the acute (0-2 days post-injury) and delayed setting (5-8 days post-injury). All acute ankle injuries in adult athletes (≥18 years) presenting up to 2 days post-injury were assessed for eligibility. Athletes were excluded if imaging studies demonstrated a frank fracture or 3 T MRI could not be acquired within 10 days post-injury. Using standardized history variables and clinical tests, acute clinical evaluation was performed within 2 days post-injury. Delayed clinical evaluation was performed 5-8 days post-injury. Overall, clinical suspicion was recorded after clinical evaluation. MRI was used as the reference standard. Between February 2018 and February 2020, a total of 117 acute ankle injuries were screened for eligibility, of which 43 were included in this study. Complete discontinuity of lateral ankle ligaments was observed in 23 (53%) acute ankle injuries. In the acute setting, lateral swelling had 100% (95% confidence interval [CI]: 82-100) sensitivity, haematoma had 85% (95% CI: 61-96) specificity and the anterior drawer test had 100% (95% CI: 77-100) specificity. In the delayed setting, sensitivity for the presence of haematoma improved from 43% (95% CI: 24-65) to 91% (95% CI: 70-98; p < 0.01) and the sensitivity of the anterior drawer test improved from 21% (95% CI: 7-46) to 61% (95% CI: 39-80; p = 0.02). Clinical suspicion had a positive likelihood ratio (LR) of 4.35 (95% CI: 0.55-34.17) in the acute setting and a positive LR of 6.09 (95% CI: 1.57-23.60) in the delayed setting. In the acute setting, clinical evaluation can exclude complete discontinuity (e.g., absent lateral swelling) and identify athletes with a high probability of complete discontinuity (e.g., positive anterior drawer test) of the lateral ankle ligaments. In the delayed setting, the sensitivity of common clinical findings increases resulting in an improved diagnostic accuracy. In clinical practice, this study underlines the importance of meticulous clinical evaluation in the acute setting. Level III.