Specific Pathology Research Articles

Inter-rater reliability in labeling quality and pathological features of retinal OCT scans: A customized annotation software approach.

Various imaging features on optical coherence tomography (OCT) are crucial for identifying and defining disease progression. Establishing a consensus on these imaging features is essential, particularly for training deep learning models for disease classification. This study aims to analyze the inter-rater reliability in labeling the quality and common imaging signatures of retinal OCT scans. 500 OCT scans obtained from CIRRUS HD-OCT 5000 devices were displayed at 512x1024x128 resolution on a customizable, in-house annotation software. Each patient's eye was represented by 16 random scans. Two masked reviewers independently labeled the quality and specific pathological features of each scan. Evaluated features included overall image quality, presence of fovea, and disease signatures including subretinal fluid (SRF), intraretinal fluid (IRF), drusen, pigment epithelial detachment (PED), and hyperreflective material. The raw percentage agreement and Cohen's kappa (κ) coefficient were used to evaluate concurrence between the two sets of labels. Our analysis revealed κ = 0.60 for the inter-rater reliability of overall scan quality, indicating substantial agreement. In contrast, there was slight agreement in determining the cause of poor image quality (κ = 0.18). The binary determination of presence and absence of retinal disease signatures showed almost complete agreement between reviewers (κ = 0.85). Specific retinal pathologies, such as the foveal location of the scan (0.78), IRF (0.63), drusen (0.73), and PED (0.87), exhibited substantial concordance. However, less agreement was found in identifying SRF (0.52), hyperreflective dots (0.41), and hyperreflective foci (0.33). Our study demonstrates significant inter-rater reliability in labeling the quality and retinal pathologies on OCT scans. While some features show stronger agreement than others, these standardized labels can be utilized to create automated machine learning tools for diagnosing retinal diseases and capturing valuable pathological features in each scan. This standardization will aid in the consistency of medical diagnoses and enhance the accessibility of OCT diagnostic tools.

Use of Infrared Thermography in Podiatry: Systematic Review and Meta-Analysis

Background/Objectives: Infrared thermography is an advanced technique that detects infrared light emitted by the body to map thermal changes related to blood flow. It is recognized for being noninvasive, fast, and reliable and is employed in the diagnosis and prevention of various medical conditions. In podiatry, it is utilized for managing diabetic foot ulcers, musculoskeletal injuries such as Achilles tendinopathy, and onychomycosis, among others. The primary objective is to analyze the application of thermography in podiatry as a diagnostic evaluation tool. Secondary objectives include evaluating the use of thermography in diagnosing musculoskeletal injuries, determining its role in preventing diabetic foot ulcers and onychomycosis, assessing its utility in sports performance evaluation with plantar orthoses, and reviewing its cost-effectiveness in detecting common foot conditions and deformities. Methods: A systematic review and meta-analysis of the existing literature on the use of thermography in podiatry were conducted. Studies addressing various applications of thermography were included, focusing on its effectiveness, sensitivity, and specificity. Both studies comparing plantar temperature before and after interventions with orthoses and those exploring thermography in diagnosing specific pathologies were analyzed. Results: Ten randomized clinical trials on the use of infrared thermography in podiatric conditions were included, with participant ages ranging from 18 to 80 years (n = 10–223). Treatments for Achilles tendinopathy, diabetic foot ulcers, and peripheral arterial disease were explored. Infrared thermography was utilized to measure thermal changes, evaluate plantar orthoses, and diagnose onychomycosis. The findings underscore the potential of infrared thermography in preventing and diagnosing various podiatric pathologies. Conclusions: Infrared thermography is a noninvasive technique in podiatry that provides real-time imaging without radiation. It is useful for detecting musculoskeletal injuries, diabetic skin ulcers, and onychomycosis and contributes to enhancing sports performance. In conclusion, it is a valuable tool in podiatric practice to optimize therapeutic approaches.

Rare giant epithelioid inflammatory myofibroblastic sarcoma of the abdominal cavity in a child: a case report and review of the literature

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a distinct subtype of inflammatory myofibroblastoma tumor (IMT) that is recognized as a rare malignant tumor characterized by anaplastic lymphoma kinase (ALK) positivity, significant aggressiveness, treatment challenges, and a poor prognosis. We report on the case of an 8-year-old boy presenting with abdominal pain and vomiting. Computed tomography (CT) of the abdomen revealed a large tumor, and the pathology results following a biopsy confirmed the diagnosis of EIMS. The patient underwent radical tumor resection, and genetic testing identified the presence of the RANBP2–ALK fusion. To our knowledge, this represents the largest pediatric case of abdominal EIMS documented in the literature. Currently, there is no standard therapy for EIMS; however, existing studies advocate for the use of ALK tyrosine kinase inhibitors (TKIs) in its treatment. This case was reported to be in remission following treatment with crizotinib, thereby contributing to the understanding of the specific pathology of EIMS and facilitating accurate diagnosis and targeted therapy.

Comprehensive Review of Advances in Radiology and Imaging Technologies for Diagnostic and Therapeutic Medicine

Radiology and imaging are some areas where rapid strides have been made, thus contributing to diagnostic and therapeutic medicine. The detection of a specific pathology or disease or therapeutic intervention has required high precision. Whether it is simple X-ray or computed tomography scans, ultra-modern functional MRI scans, molecular imaging, and more, radiology has been through lots of improvements to enhance clinicians’ ability to make more accurate clinical decisions. This review aims to discuss the role of radiology throughout the years and specify the contemporary usefulness of these methods, using diagnosis and therapy as key aspects. In addition, the review highlights certain issues related to implementing these technologies in practice, such as costs, availability, and staff education. We also evaluate how these novelties contribute to patient benefit today and in the future or can lay the foundation for individualized treatment.

Comprehensive Review of The Intersection Between Radiology and Dentistry in Patient Care

Radiology and imaging are some areas where rapid strides have been made, thus contributing to diagnostic and therapeutic medicine. The detection of a specific pathology or disease or therapeutic intervention has required high precision. Whether it is simple X-ray or computed tomography scans, ultra-modern functional MRI scans, molecular imaging, and more, radiology has been through lots of improvements to enhance clinicians’ ability to make more accurate clinical decisions. This review aims to discuss the role of radiology throughout the years and specify the contemporary usefulness of these methods, using diagnosis and therapy as key aspects. In addition, the review highlights certain issues related to implementing these technologies in practice, such as costs, availability, and staff education. We also evaluate how these novelties contribute to patient benefit today and in the future or can lay the foundation for individualized treatment.

Russian extreme hypertriglyceridemia registy (REGGI): a call to action

Hypertriglyceridemia (HTG) is associated with an increased risk of atherosclerotic cardiovascular disease, pancreatitis developing, and all-cause mortality. The risk escalates with rising triglyceride levels and is most significant in extreme HTG (triglycerides above 10 mmol/L). According to epidemiological studies in the Russian Federation, the extreme HTG prevalence varies between 0.1-0.2% (affecting 146,000 to 292,000 Russians). Extreme HTG can be monogenic or polygenic (multifactorial), this determines the clinical course of the disease. Registries are among the most effective models for studying disease development, as they can compile information on clinical, laboratory, instrumental, and molecular data from patients with specific pathologies, and enable analysis of this data and the subsequent development and integration of improved diagnostic and treatment models into clinical practice. The establishment of a registry for extreme HTG will deepen our understanding of the hyperlipidemia nature, regional characteristics of its prevalence, and the phenotypic manifestation of the disease in our country. It will also facilitate the organized and standardized collection of patient information. Data obtained through registry monitoring will enhance diagnostic and monitoring approaches for patients with extreme HTG in practical healthcare settings. The purpose is to present current information on the diagnosis, monitoring, and treatment of patients with extreme HTG, and to announce the creation of the Russian Extreme hypertriGlyceridemia reGIstry (REGGI).

Multifunctional Thermal Imaging Complex for Medical Diagnostics

Introduction. Recent developments in the field of thermal imaging technology and the accumulated experience in instrumental analysis of thermal processes in the patient’s body indicate the prospects of developing new medical thermal imaging systems (thermal imagers).Aim. Creation of a low-budget domestic thermal imaging system for medical diagnostics with expanded functionality.Materials and methods. The distribution of temperature over the surface of the human body depends on its internal state and external environment. For each person, this distribution has its own physiological characteristics, the study and interpretation of which can be significant for diagnosing specific pathologies or assessing the general (psychophysical) state of the patient. Analysis of temperature fields on the surface of the human body makes it possible to diagnose various pathological processes manifested in the form of local temperature changes in individual areas. The proposed method for thermal diagnostics involves measuring the temperature at each point of such an area simultaneously (statically) or over a period of time (dynamically). In comparison with conventional approaches, two thermal imaging sensors are used for this purpose. These include a small-sized matrix (thus being low cost) and a point sensor. Such a combination of sensors provides for the necessary discretization of the temperature field image of sufficiently large areas of the surface of the human body, when shooting from a distance significantly reduced compared to the conventional approach.Results. A conceptual electrical circuit and a layout of a modern thermal imaging system are developed. The advantages of the proposed thermal imager over similar devices are assessed. A method for recording and analyzing temperature in a certain point and temperature fields of both separate areas and large areas on the surface of the human body is proposed and tested.Conclusion. The conducted testing of a material model of the proposed thermal imaging system using the facilities of large medical institutions in St. Petersburg showed its wide functionality along with simplicity and convenience.

Renal Artery Stenosis and Mid-Aortic Syndrome in Children-A Review.

Background: Renal artery stenosis (RAS) and mid-aortic syndrome (MAS) are significant yet under-recognized causes of pediatric hypertension. RAS is characterized by the narrowing of the renal arteries, while MAS involves the stenosis of the abdominal aorta along with its associated vessels. The etiologies of RAS and MAS often involve genetic factors and acquired conditions such as fibromuscular dysplasia and Takayasu arteritis, contributing to their complex clinical presentations. Despite advancements in diagnostic imaging, challenges remain in effectively identifying these conditions. Pharmacological treatment can achieve partial blood pressure control, but it usually does not lead to complete recovery. Treatment options range from angioplasty to more definitive surgical interventions such as renal artery reimplantation and aorto-aortic bypass, tailored according to the specific pathology and extent of the disease. Methods: This review explores the diagnosis and management of RAS and MAS in children, highlighting the necessity for early detection and showcasing the evolving landscape of treatment. Conclusions: We advocate for a multidisciplinary approach that includes advanced imaging for effective diagnosis and tailored therapy. By integrating the latest research and clinical practices, this article provides valuable insights into managing complex vascular conditions in the pediatric population, ultimately aiming to enhance the quality of life for affected individuals.

Interventional Pain Management in Degenerative Spine Disorders: A Case Report

Low back pain (LBP) is a common health issue affecting a significant portion of the population, particularly adults aged 35-55 years. Nearly 70-80% of individuals in developed countries experience LBP at some point in their lives. We reported a 54-year-old female presenting with LBP persisting for one year. Her pain predominantly occurs during walking, is limited to 100 meters, and is characterized by gripping sensations in the thigh and calf, exacerbated by positional changes but relieved with rest. Imaging revealed anterior listhesis of the L4 vertebral body relative to L5 (<25%) and multiple bulging discs at various lumbar levels, most notably severe at L4-5 with moderate central and severe bilateral neural foraminal stenosis. The patient underwent Selective Nerve Root Block (SNRB) and facet joint blocks with local anesthetic and steroid medication, resulting in a reduction of pain complaints and decreased leg numbness post-intervention. Understanding and addressing specific spinal pathologies in this case was expected to guide effective treatment strategies to alleviate symptoms and improve patient function.

Military medicine of modern hybrid wars

During the hybrid armed conflict in which Russia became involved — the Special Military Operation — the medical service of the Armed Forces faced a number of challenges. This review analyzes foreign publications indexed in PubMed® concerning the conditions and factors affecting the activities of the medical services of armed forces, primarily those of NATO countries. It was revealed that a limiting factor for operational effectiveness is the staffing levels and qualitative composition of medical personnel, their preparedness to provide care for the specific pathologies of wartime, and maintaining these competencies in an up-to-date state. Important conditions for successful provision of medical care are preserving the integrity of medical facilities during targeted attacks on them, and the ability to use infrastructure in hostile or newly occupied territories. Prehospital care serves as a limiting factor in reducing lethality, with the main causes being fatal hemorrhages and head injuries from mine-blast trauma. Proper tourniquet application, rapid evacuation, and blood transfusions make the greatest contribution to reducing prehospital mortality. Among casualties, those with limb wounds are most significant, as they subsequently create the greatest social burden on the state, exceeding the “years lived with disability” parameter for all other disease classes, including oncological and cardiovascular diseases. In modern conflicts, the most dangerous in terms of lethality are mine-blast injuries (61.4–83.5%) and head injuries (20.9–59.0%), and in terms of subsequent disease burden, limb injuries (45.7%) constitute an absolute majority and are the point of focus for the main efforts of the medical services of the warring states’ armed forces. At the same time, there are no unified approaches regarding the place of application of qualified and specialized care among countries.

Challenges in service robot devices for elderly motion assistance

Abstract Motion assistance for elderly people is a field of application for service robotic systems that can be characterized by requirements and constraints of human–machine interaction and by the specificity of the user’s conditions. The main aspects of characterization and constraints are examined for the application of service systems that can be specifically conceived or adapted for elderly motion assistance by having to consider conditions of motion deficiency and muscular strength weakness as well as psychological aptitudes of users. The analysis is discussed in general terms with reference to elderly people who may not even suffer from specific pathologies. Therefore, the discussion focuses on the need for motion exercise in proper environments, including domestic ones and frame familiar to a user. The challenges of such applications oriented toward elderly users are discussed as requiring research and design of solutions in terms of specific portability, user-oriented operation, low costs, and clinical-physiotherapeutic functionality. Results of the author’s team experiences are presented as an example of problems and attempted solutions to meet the new challenges of service systems for motion assistance applications for elderly people.

Radiomic Applications in Skull Base Pathology: A Systematic Review of Potential Clinical Uses

Abstract Objectives Radiomics involves the extraction and analysis of numerous quantitative features of medical imaging which can add more information from radiological images often beyond initial comprehension of a clinician. Unlike deep learning, radiomics allows some understanding of identified quantitative features for clinical prediction. We sought to explore the current state of radiomics applications in the skull base literature. Methods A systematic review of studies evaluating radiomics in skull base was performed, including those with and without machine-learning approaches. Studies were summarized into thematic elements as well as specific pathologies. Results A total of 102 studies with 26,280 radiographic images were included. The earliest radiomic study was published in 2017 with exponential growth in research since then. Most studies focused on tumor diagnosis (40.8%), followed by tumor prognosis (31.1%), automated segmentation (16.5%), other applications (7.8%), and lastly prediction of intraoperative features (3.9%). Pituitary adenomas (41.7%) and vestibular schwannomas (18.4%) represented the most commonly evaluated pathologies; however, radiomics could be applied to a heterogeneous collection of skull base pathologies. The average study included 258 ± 677 cases (range 4; 6,755). Conclusion Radiomics offers many functions in treating skull base pathology and will likely be an essential component of future clinical care. Larger sample sizes, validation of predictive models, and clinical application are needed. Further investigation into the strengths and weaknesses of radiomic applications in skull base treatments is warranted.

Neuroanatomy of the vertebrobasilar perforators: implications for aneurysm treatment.

The anatomy of vertebrobasilar perforators has been widely studied in human cadavers, with most reports found in the neurosurgical literature. These arterial perforators are extremely hard to visualize consistently with traditional two-dimensional digital subtraction angiography, but are reliably visible with cross sectional cone beam CT techniques. A clear understanding of this specific neurovascular anatomy and pathology is essential for informed treatment decisions. This review analyzes the anatomy of vertebrobasilar perforators with a focus on practical implications for aneurysm treatment, particularly flow diversion.

The incidence, providers involved, and patient factors associated with diagnosis of specific lumbar spine pathology subsequent an initial nonspecific low back pain diagnosis

Background ContextLow back pain (LBP) is an exceedingly common diagnosis with significant societal and healthcare burden. While nonspecific LBP diagnoses are frequently assigned and often resolve soon thereafter, some patients may subsequently be diagnosed with specific underlying lumbar spine pathology. PurposeTo characterize the incidence, providers involved, and factors associated with specific pathology LBP (SP-LBP) diagnosed subsequent an initial nonspecific LBP (NS-LBP) diagnosis. Study DesignRetrospective cohort study. Patient SampleAdult patients diagnosed with NS-LBP between 2010 – Q1 2022 were abstracted from a large national administrative database. Outcome MeasurementsIncidence of subsequent SP-LBP diagnoses, providers involved, and factors associated with SP-LBP diagnoses in the 12-months following initial NS-LBP diagnosis. MethodsAdult patients diagnosed with NS-LBP were identified based on International Classification of Disease (ICD) codes ICD-9-D-724.2 and ICD-10-D-M54.5. These patients diagnosed with new NS-LBP were reported based on incidence per 100,000 covered lives. Exclusion criteria included: patients less than 18 years old, those with any prior NS-LBP diagnosis, any prior SP-LBP diagnoses, and those with trauma, neoplasm, or infection diagnosed within 3-months prior to the initial NS-LBP diagnosis. Patients who subsequently received SP-LBP diagnoses within 12-months following initial NS-LBP were then identified. Patients were characterized based on age, sex, history of cancer, obesity, opioid use disorder, anxiety, and depression and then compared with patients receiving no additional LBP diagnosis by univariable and multivariable analysis. Provider specialties who initially diagnosed NS-LBP and those involved with subsequent SP-LBP diagnoses were identified. ResultsNS-LBP was identified for a robust cohort of 6,861,235 patients, yielding an incidence of 4,258 diagnoses per 100,000 covered lives. Subsequent SP-LBP diagnoses were identified for 562,982 (8.21%) within 12-months, of which 62.57% of these SP-LBP diagnoses occurred within 3-months. The most common of these subsequent diagnoses included radiculopathy (3.01% of the overall study population), disc degeneration (2.84%), and disc herniation (1.23%). Patients receiving a subsequent SP-LBP diagnosis were more likely older (per year increase, odds ratio [OR] 1.02), male (OR 1.10), had a history of cancer (OR 1.32), obesity (OR 1.30), opioid use disorder (OR 1.17), anxiety (OR 1.21), or depression (OR 1.17) (p<0.001 for all). NS-LBP was initially diagnosed predominantly by primary care providers (PCPs) in family medicine (44.09%) and internal medicine (27.49%). These PCP providers also contributed to the majority of SP-LBP diagnoses, while specialty providers contributed to a greater degree in SP-LBP diagnoses than NS-LBP. ConclusionNS-LBP is a common diagnosis that usually, 91.79% of the time, does not subsequently convert to a SP-LBP diagnosis within 12-months. This may reflect improvement of LBP symptoms and/or accurate initial triage, largely by PCPs. Of the minority of patients receiving a subsequent SP-LBP diagnosis, various patient factors were significantly associated, and a greater degree of specialty providers were involved, which highlights potential contributors to diagnostic difficulty of SP-LBP and the multidisciplinary nature of LBP management.

The role of spinal injections towards optimizing patient selection for spinal surgery: A proof-of-concept study in 176 lower back pain patients

BackgroundManaging degenerative lumbar diseases is challenging due to the complexity of identifying symptom causes, especially when multiple pathologies coexist. This study evaluated the impact of patient-specific lumbar spine infiltrations on therapeutic strategies in patients with multiple spinal pathologies (MSP) or specific spinal pathologies (SSP).MethodsA retrospective cohort of 176 patients treated for subacute or chronic lumbar pain with targeted spinal infiltrations was analyzed. Patients were categorized based on the presence of MSP or SSP. The primary endpoint was the relief of lumbar spine-specific symptoms following each infiltration. Secondary endpoints included epidemiological factors and comorbidities, while tertiary endpoints focused on post-treatment recommendations and performed treatments.ResultsHigh rates of spinal pain (97.1% in both groups) and radiating symptoms (88.2% in SSP and 92.3% in MSP) were reported. Psychological conditions were significantly more prevalent in female patients (19.4% vs. 7.7%, p = 0.0307), whereas hip osteoarthritis was more common in male patients (20.5% vs. 9.2%, p = 0.0490). Among all infiltration types, lumbar transforaminal injections were the most effective, leading to pain reduction in 80.1% of SSP patients and 72.2% of MSP patients. Facet joint and sacroiliac joint infiltrations also frequently resulted in pain reduction in both groups. Overall, conservative treatment was recommended for most patients (73.3%), while only 22.7% of all evaluated patients were recommended for surgical intervention. Additionally, seven patients received a hip prosthesis.ConclusionsPatient-specific lumbar spine infiltrations effectively relieve pain, support therapeutic decision-making, and tend to favor conservative treatment approaches. These findings highlight the role of infiltration therapies in managing both mixed and specific lumbar spine pathologies, suggesting their potential to reduce the need for surgical interventions.

The chosen few: Mycobacterium tuberculosis isolates for IMPAc-TB.

The three programs that make up the Immune Mechanisms of Protection Against Mycobacterium tuberculosis Centers (IMPAc-TB) had to prioritize and select strains to be leveraged for this work. The CASCADE team based at Seattle Children's Research Institute are leveraging M.tb H37Rv, M.tb CDC1551, and M.tb SA161. The HI-IMPACT team based at Harvard T.H. Chan School of Public Health, Boston, have selected M.tb Erdman as well as a novel clinical isolate recently characterized during a longitudinal study in Peru. The PHOENIX team also based at Seattle Children's Research Institute have selected M.tb HN878 and M.tb Erdman as their isolates of choice. Here, we describe original source isolation, genomic references, key virulence characteristics, and relevant tools that make these isolates attractive for use. The global context for M.tb lineage 2 and 4 selection is reviewed including what is known about their relative abundance and acquisition of drug resistance. Host-pathogen interactions seem driven by genomic differences on each side, and these play an important role in pathogenesis and immunity. The few M.tb strains chosen for this work do not reflect the vast genomic diversity within this species. They do, however, provide specific virulence, pathology, and growth kinetics of interest to the consortium. The strains selected should not be considered as "representative" of the growing available array of M.tb isolates, but rather tools that are being used to address key outstanding questions in the field.

Diagnostic insights into splenic pathologies: the role of multiparametric ultrasound.

Ultrasound(US) evaluation of the spleen is mandatory in the assessment of patients with chronic liver disease, and splenomegaly can be a sign of systemic diseases. However, due to the lack of distinctive ultrasound findings in specific splenic pathologies, clinical diagnosis can be very challenging. Splenomegaly, defined by increased splenic dimensions, can indicate underlying systemic conditions and is a common manifestation of portal hypertension (PH). Ultrasound and Doppler techniques help assessing splenic involvement in PH. Splenic stiffness measurement, using elastography, offers additional diagnostic accuracy, especially when liver stiffness measurements are inconclusive. CEUS enhances the diagnostic capability for focal splenic lesions, differentiating between benign and malignant lesions by their distinct enhancement patterns, and plays also a critical role in the context of splenic traumatic pathology. Overall, CEUS significantly improves the characterization of splenic pathology, reducing the need for invasive procedures and ensuring appropriate patient management. This review article describes the normal US findings of the spleen and examines the role of multiparametric US in the evaluation of the most common splenic pathologies encountered in the daily clinical practice.

Implementation of Point-of-Care Ultrasound (PoCUS) in Geisinger Health System.

Background Point-of-care ultrasound (PoCUS) is an imaging modality with many inherent benefits, such as increased patient satisfaction, cost savings, and elimination of delays in diagnosis. The popularity of this bedside imaging technique has increased in recent years, and its scope of use for diagnostics and procedures has expanded in many specialties. Research question Can increased implementation of PoCUS within the Geisinger Health System (GHS) reduce the need for other more expensive, time-consuming, and potentially harmful imaging techniques? Methods Investigations were carried out on the uses of PoCUS established in the literature as a bedside diagnostic tool for specific pathologies such as pneumonia, nephrolithiasis, and various fractures. The SlicerDicer tool from Epic was then used to quantify diagnostic tests that could be replaced with PoCUS. Data collection focused on the number of other imaging modalities (CT, MRI, X-ray) that could be substituted with PoCUS. Data regarding the existing use of PoCUS within GHS could not be collected due to the limitations of SlicerDicer. Results Between January 1, 2019, and December 31, 2023, 121,057 imaging studies, including 38,838 CT scans, were recorded in SlicerDicer, where PoCUS could be implemented as an alternative diagnostic tool for specific pathologies. The largest portion of PoCUS-replaceable scans was chest X-ray at 61,684, followed by CT of the abdomen and pelvis at 36,204 scans in the five-year study period. Conclusions Our review of SlicerDicer data from GHS revealed substantial numbers of imaging scans that could be substituted with PoCUS. Expanding the use of PoCUS within GHS would be advantageous to both patients and providers, and we recommend that providers take advantage of opportunities to incorporate PoCUS into their clinical practice.

Neuropsychological Profiles in Genetic Frontotemporal Dementia: A Meta-Analysis and Systematic Review.

Characterization of cognitive profiles across genetic FTD gene mutations is crucial for the identification of sensitive endpoints for clinical trials targeting specific pathologies. However, no systematic overview of the literature describing cognitive profiles in different FTD gene mutations has been made thus far. We performed a meta-analysis and systematic review to characterize cognitive profiles across the different FTD gene mutations and clinical disease stages of familial frontotemporal dementia (FTD). We included 27 studies comparing presymptomatic (n=1027), and/or symptomatic (n=574) mutation carriers (GRN, MAPT, C9orf72) with controls (n=1296). We extracted cognitive data and grouped them into six cognitive domains (language, attention and mental processing speed, executive function (EF), memory, social cognition, and visuospatial abilities). These domains were further subdivided into specific cognitive sub-processes. We calculated Hedges' g and performed multilevel meta-analyses per cognitive domain and FTD gene mutation comparing presymptomatic and symptomatic mutation carriers to controls. Moderator analyses were performed to the effect of age, education, sex, and cognitive subprocess. Eleven studies into rarer FTD mutations were included in the systematic review. Presymptomatic GRN mutation carriers showed deficits in EF, and presymptomatic C9orf72 mutation carriers in language, EF, and attention. Presymptomatic MAPT mutation carriers did not differ from controls on any of the cognitive domains. All symptomatic mutation carriers had deficits in language, EF, attention, and memory. Both in the presymptomatic and symptomatic stage cognitive sub-processes for language, attention and mental processing speed, EF, and memory were differentially affected in GRN, MAPT, and C9orf72. Cognitive decline was present in the presymptomatic stage of GRN and C9orf72 mutation carriers, but not MAPT mutation carriers. Unique cognitive sub-processes were affected in GRN, MAPT, and C9orf72. This study increased our knowledge of the cognitive deficits in familial FTD, which can aid in differential diagnosis and selection of endpoints for clinical trials.

Antibiotic Resistance Pattern of Pathogens Isolated from Pediatric Patients during and after the COVID-19 Pandemic.

Background/Objectives: The present study aims to highlight the possible significant changes due to the COVID-19 pandemic in the resistance of pathogens involved in cases of pediatric infections. Methods: This study included children hospitalized in the Pediatric Intensive Care Unit, Surgery and Pediatrics from a tertiary teaching hospital, during and after the COVID-19 period (2020-2023). Results: The research included 845 samples collected during 2020-2023, from 685 pediatric patients. A total of 937 bacterial isolates were obtained, of which 509 isolates (54.32%) were Gram-negative bacteria. Around 30% of all the pathogens were multidrug-resistant (MDR), with a statistically significant increase post-pandemic, in the case of the MDR Escherichia coli strains (p < 0.05). A very high percentage of MDR Acinetobacter spp. isolates was found, with an important, but not statistically significant, increase in the post-pandemic period. The highest percentage of the MDR Gram-positive pathogens was registered in the case of S. aureus strains (31.80%). Over 20% of the Coagulase-negative Staphylococci (CoNS) strains isolated between 2020 and 2023 were MDR, with an important increase in the post-COVID-19 period. The proportion of carbapenem-resistant Gram-negative pathogens significantly decreased in the post-COVID-19 period compared with the COVID-19 period (p < 0.05), especially in the case of the Klebsiella spp. strains. Conclusions: Our findings revealed the increase in the post-COVID-19 period of the prevalence of MDR strains of Acinetobacter spp., CoNS, and Escherichia coli isolated in pediatric patient samples and a significant decline in the trend of the carbapenem-resistant Gram-negative pathogens, which may be due to the testing rate and to the specific pathology of the pediatric patients hospitalized in the two periods.