-
GeroScience Jun 2024A growing body of research suggested that there was a link between poor periodontal health and systemic diseases, particularly with the early development of cognitive... (Review)
Review
A growing body of research suggested that there was a link between poor periodontal health and systemic diseases, particularly with the early development of cognitive disorders, dementia, and depression. This is especially true in cases of changes in diet, malnutrition, loss of muscular endurance, and abnormal systemic inflammatory response. Our study aimed to determine the extent of these associations to better target the multi-level healthy aging challenge investigating the impact of periodontal disease on cognitive disorders (cognitive impairment and cognitive decline), dementia, and depression. We conducted a comprehensive literature search up to November 2023 using six different electronic databases. Two independent researchers assessed the eligibility of 7363 records against the inclusion criteria and found only 46 records that met the requirements. The study is registered on PROSPERO (CRD42023485688). We generated random effects pooled estimates and 95% confidence intervals (CI) to evaluate whether periodontal disease increased the risk of the investigated outcomes. The quality assessment revealed moderate quality of evidence and risk of bias. Periodontal disease was found to be associated with both cognitive disorders (relative risk (RR) 1.25, 95% CI 1.11-1.40, in the analysis of cross-sectional studies); cognitive impairment (RR 3.01, 95% CI 1.52-5.95 for longitudinal studies, cognitive decline); and dementia (RR 1.22, 95% CI 1.10-1.36). However, no significant increased risk of depression among subjects with periodontal disease was found (RR 1.07, 95% CI 0.95-1.21). Despite the association with two of the three explored outcomes, the available evidence on periodontal diseases and dementia, cognitive disorders, and depression is controversial due to several limitations. Therefore, further investigations involving validated and standardized tools are required.
PubMed: 38943006
DOI: 10.1007/s11357-024-01243-8 -
American Journal of Medical Genetics.... Jun 2024Pseudo-TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders that may clinically and radiologically resemble congenital TORCH infections. These...
Pseudo-TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders that may clinically and radiologically resemble congenital TORCH infections. These mimickers present with overlapping features manifested as intracranial and systemic abnormalities. Collagen type IV alpha 1 chain (COL4A1)-related diseases, characterized by autosomal dominant inheritance, exhibit a diverse phenotypic spectrum involving cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. Cerebrovascular manifestations range from small-vessel brain disease to large vessel abnormalities, resulting in intracerebral hemorrhage, periventricular leukoencephalopathy, and ventriculomegaly. Additional features include cortical malformations, eye defects, arrhythmias, renal disease, muscular abnormalities, and hematological manifestations. Age of onset varies widely, and phenotypic variability exists even among individuals with the same variant. In this study, we present two cases of COL4A1-related disorder mimicking congenital TORCH infections, highlighting the importance of recognizing genetic mimics in clinical practice.
PubMed: 38942733
DOI: 10.1002/ajmg.a.63804 -
RMD Open Jun 2024Fibromyalgia (FM) is a complex disorder with widespread pain and emotional distress, posing diagnostic challenges. FM patients show altered cognitive and emotional...
BACKGROUND
Fibromyalgia (FM) is a complex disorder with widespread pain and emotional distress, posing diagnostic challenges. FM patients show altered cognitive and emotional processing, with a preferential allocation of attention to pain-related information. This attentional bias towards pain cues can impair cognitive functions such as inhibitory control, affecting patients' ability to manage and express emotions. Sentiment analysis using large language models (LLMs) can provide insights by detecting nuances in pain expression. This study investigated whether open-source LLM-driven sentiment analysis could aid FM diagnosis.
METHODS
40 patients with FM, according to the 2016 American College of Rheumatology Criteria and 40 non-FM chronic pain controls referred to rheumatology clinics, were enrolled. Transcribed responses to questions on pain and sleep were machine translated to English and analysed by the LLM Mistral-7B-Instruct-v0.2 using prompt engineering targeting FM-associated language nuances for pain expression ('prompt-engineered') or an approach without this targeting ('ablated'). Accuracy, precision, recall, specificity and area under the receiver operating characteristic curve (AUROC) were calculated using rheumatologist diagnosis as ground truth.
RESULTS
The prompt-engineered approach demonstrated accuracy of 0.87, precision of 0.92, recall of 0.84, specificity of 0.82 and AUROC of 0.86 for distinguishing FM. In comparison, the ablated approach had an accuracy of 0.76, precision of 0.75, recall of 0.77, specificity of 0.75 and AUROC of 0.76. The accuracy was superior to the ablated approach (McNemar's test p<0.001).
CONCLUSION
This proof-of-concept study suggests LLM-driven sentiment analysis, especially with prompt engineering, may facilitate FM diagnosis by detecting subtle differences in pain expression. Further validation is warranted, particularly the inclusion of secondary FM patients.
Topics: Humans; Fibromyalgia; Female; Middle Aged; Male; Adult; ROC Curve; Natural Language Processing; Language; Emotions; Aged; Chronic Pain
PubMed: 38942593
DOI: 10.1136/rmdopen-2024-004367 -
British Dental Journal Jun 2024As temporomandibular disorders (TMDs) become ever more prevalent in both primary and secondary care settings, successful management is increasingly challenging in both...
As temporomandibular disorders (TMDs) become ever more prevalent in both primary and secondary care settings, successful management is increasingly challenging in both sectors. The authors aim to explore the dilemma of TMD management as the patient journeys through from primary to secondary care and offer educational tools to support practitioners in managing this complex patient cohort, as well as outlining alternative solutions for the delivery of TMD management strategies.
Topics: Humans; Temporomandibular Joint Disorders; Primary Health Care; Secondary Care
PubMed: 38942856
DOI: 10.1038/s41415-024-7506-5 -
British Dental Journal Jun 2024Temporomandibular joint dysfunction (TMD) is a common condition, with patients reporting symptoms to both dentists and doctors. The aetiology of TMD is likely to be...
Temporomandibular joint dysfunction (TMD) is a common condition, with patients reporting symptoms to both dentists and doctors. The aetiology of TMD is likely to be multifactorial, with occlusal, parafunctional and psychological factors all potentially playing a part to varying degrees in different individuals. A personal account by a dentist, suffering from TMD for over 40 years, chronicles their experience of different treatments and concludes that supporting a patient to 'learn to live' with TMD is pivotal to management.
Topics: Humans; Temporomandibular Joint Disorders; Chronic Disease
PubMed: 38942855
DOI: 10.1038/s41415-024-7507-4 -
Medicine Jun 2024Idiopathic inflammatory myopathies, especially antisynthetase syndrome, often appear outside of the muscles as interstitial lung disease (ILD). Another typical finding... (Observational Study)
Observational Study
Idiopathic inflammatory myopathies, especially antisynthetase syndrome, often appear outside of the muscles as interstitial lung disease (ILD). Another typical finding is the presence of mechanic's hands. The aim of the present study was to describe the clinical, functional, tomographic, and serological data of patients with ILD and mechanic's hands and their response to treatment and survival rates. This is a retrospective study of ILD with concurrent myopathy. Among the 119 patients initially selected, 51 had mechanic's hands. All the patients were screened for anti-Jo-1 antibodies. An expanded panel of myopathy autoantibodies was also performed in 27 individuals. Of the 51 patients, 35 had 1 or more antibodies. The most common were anti-Jo-1, anti-PL-7, and anti-PL-12, while of the associated antibodies, anti-Ro52 was present in 70% of the 27 tested individuals. A significant response to treatment was characterized by an increase in predicted forced vital capacity (FVC) of at least 5% in the last evaluation done after 6 to 24 months of treatment. A decrease in predicted FVC of at least 5%, the need for oxygen therapy, or death were all considered treatment failures. All patients were treated with corticosteroids, and 71% with mycophenolate. After 24 months, 18 patients had an increase in FVC, 11 had a decrease, and 22 remained stable. After a median follow-up of 58 months, 48 patients remained alive and three died. Patients with honeycombing on high-resolution chest tomography (log-rank = 34.65; P < .001) and a decrease in FVC ≥5% (log-rank = 18.28, P < .001) had a poorer survival rate. Patients with ILD and mechanic's hands respond well to immunosuppressive treatment.
Topics: Humans; Lung Diseases, Interstitial; Retrospective Studies; Male; Female; Middle Aged; Myositis; Aged; Treatment Outcome; Adult; Autoantibodies; Outpatients; Adrenal Cortex Hormones; Vital Capacity
PubMed: 38941439
DOI: 10.1097/MD.0000000000038642 -
Medicine Jun 2024Upper limb dysfunction is one of the most common sequelae of stroke and robotic therapy is considered one of the promising methods for upper limb rehabilitation. (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Upper limb dysfunction is one of the most common sequelae of stroke and robotic therapy is considered one of the promising methods for upper limb rehabilitation.
OBJECTIVE
This study aimed to explore the clinical effectiveness of upper limb training using a rehabilitation robotic device (Rebless®) for patients with stroke.
METHODS
In this prospective, unblinded, randomized controlled trial, patients were randomly assigned to receive robotic training (experimental group, n = 15) or conventional therapy (control group, n = 15). Both groups received upper limb training lasting for 30 minutes per session with a total of 10 training sessions within 4 weeks. Motor function, functional evaluation, and spasticity were clinically assessed before and after the training. Cortical activation was measured using functional near-infrared spectroscopy at the 1st and 10th training sessions.
RESULTS
The experimental group demonstrated a significant improvement in the Fugl-Meyer assessment-upper extremity score and the modified Ashworth scale grade in elbow flexors. The cortical activity of the unaffected hemisphere significantly decreased after 10 training sessions in the experimental group compared with the control group.
CONCLUSIONS
The experimental group showed significant improvement in the Fugl-Meyer assessment-upper extremity score and spasticity of elbow flexors and had significantly decreased cortical activity of the unaffected hemisphere. Training with Rebless® may help patients with chronic stroke in restoring upper limb function and recovering the contralateral predominance of activation in motor function.
Topics: Humans; Stroke Rehabilitation; Male; Female; Upper Extremity; Middle Aged; Prospective Studies; Robotics; Aged; Stroke; Recovery of Function; Muscle Spasticity; Treatment Outcome; Chronic Disease; Exercise Therapy
PubMed: 38941364
DOI: 10.1097/MD.0000000000038753 -
PloS One 2024Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based assays are...
BACKGROUND
Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based assays are currently used to screen for severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD).
METHODS
This study analysed the impact of pre-analytic DNA carry-over in sample preparation on the outcome of DNA-based newborn screening for SCID and SMA and compared the efficacy of rapid extraction versus automated protocols. Additionally, the distribution of T cell receptor excision circles (TREC) on DBS cards, commonly used for routine newborn screening, was determined.
RESULTS
Contaminations from the punching procedure were detected in the SCID and SMA assays in all experimental setups tested. However, a careful evaluation of a cut-off allowed for a clear separation of true positive polymerase chain reaction (PCR) amplifications. Our rapid in-house extraction protocol produced similar amounts compared to automated commercial systems. Therefore, it can be used for reliable DNA-based screening. Additionally, the amount of extracted DNA significantly differs depending on the location of punching within a DBS.
CONCLUSIONS
Newborn screening for SMA and SCID can be performed reliably. It is crucial to ensure that affected newborns are not overlooked. Therefore a carefully consideration of potential contaminating factors and the definition of appropriate cut-offs to minimise the risk of false results are of special concern. It is also important to note that the location of punching plays a pivotal role, and therefore an exact quantification of TREC numbers per μl may not be reliable and should therefore be avoided.
Topics: Humans; Neonatal Screening; Infant, Newborn; Muscular Atrophy, Spinal; Severe Combined Immunodeficiency; DNA; Dried Blood Spot Testing; High-Throughput Screening Assays; Polymerase Chain Reaction
PubMed: 38941330
DOI: 10.1371/journal.pone.0306329 -
Cardiology Journal 2024
Topics: Humans; Muscular Dystrophy, Duchenne
PubMed: 38940257
DOI: 10.5603/cj.94330 -
Frontiers in Bioscience (Scholar... Jun 2024Several inherited metabolic fatty acid disorders present with myopathies. Skeletal muscle accounts for 40% of the body and is important for metabolism, exercise, and... (Review)
Review
Several inherited metabolic fatty acid disorders present with myopathies. Skeletal muscle accounts for 40% of the body and is important for metabolism, exercise, and movement. Muscle energy failure is manifested by metabolic crises with muscle weakness, sometimes associated with muscle fatigue and failure resulting in acute necrosis or rhabdomyolysis/myoglobinuria episodes. Lack of energy leads to muscle necrosis. Other presentations are weakness and myalgias with lipid storage myopathies in the biopsy. The biomarkers of such disorders are acyl-carnitine with various profiles and need to be carefully evaluated to plan supplementary therapy and specific diets. If red flags are not distinctly followed and diagnosed in time they might lead to a metabolic or cardiac failure.
Topics: Humans; Muscular Diseases; Carnitine; Lipid Metabolism, Inborn Errors; Muscle, Skeletal; Muscular Dystrophies
PubMed: 38939976
DOI: 10.31083/j.fbs1602012