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Asian Journal of Neurosurgery 2020The world population is aging. As direct consequence, geriatric trauma is increasing both in absolute number and in the proportion of annual admissions causing a... (Review)
Review
PURPOSE
The world population is aging. As direct consequence, geriatric trauma is increasing both in absolute number and in the proportion of annual admissions causing a challenge for the health-care system worldwide. The aim of this review is to delineate the specific and practice rules for the management of mild brain trauma in the elderly.
METHODS
Systematic review of the last 15 years literature on mild traumatic brain injury (nTBI) in elderly patients.
RESULTS
A total of 68 articles ml eligibility criteria and were selected for the systematic review. We collected 29% high-quality studies and 71% low-quality studies.
CONCLUSION
Clinical advices for a comprehensive management are provided. Current outcome data from mTBIs in the elderly show a condition that cannot be sustained in the future by families, society, and health-care systems. There is a strong need for more research on geriatric mild brain trauma addressed to prevent falls, to reduce the impact of polypharmacy, and to define specific management strategies.
PubMed: 33708648
DOI: 10.4103/ajns.AJNS_205_20 -
Frontiers in Neurology 2023gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild... (Review)
Review
deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis.
gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked dilated cardiomyopathy is also caused by mutations. Males carrying deletions with absent or very mild phenotypes have been sparsely described. We performed a horizon scan on public datasets to enroll males with the above phenotypes and carrying deletions to delineate myopathic genotype-phenotype relationships. We inventoried 81 males, who were divided into the following clinical categorization: fully-asymptomatic males aged >43 years (A, = 22); isolated hyperCKemia (CK, = 35); and mild weakness (any age) with or without high CK (WCK, = 24). In all cases, deleted intervals were exons 2 to 55, and no downstream exons were ever involved, apart from an exon 78 deletion in a WCK patient. All deletions were in-frame apart from the known exception to the rule of exon 2 and exon 78. We correlated the mild phenotypes (A and CK) to deleted exons, intronic breakpoints, exon-exon junctions, 3' isoforms rule, and protein epitopes, and we found that some genetic profiles are exclusively/mainly occurring in A/CK phenotypes, suggesting they are compatible with a -normal muscular performance. We discussed diverse pathogenic mechanisms that may contribute to mild dystrophinopathic phenotypes, and we tried to address some "critical" genetic configurations or exon content needed to preserve a semi-functional gene.
PubMed: 38288333
DOI: 10.3389/fneur.2023.1288721 -
JAMA Ophthalmology Jun 2021Probing differences in disease prevalence between sexes is challenging, especially in mendelian diseases. Independent replication of any association study is warranted.
IMPORTANCE
Probing differences in disease prevalence between sexes is challenging, especially in mendelian diseases. Independent replication of any association study is warranted.
OBJECTIVE
To evaluate whether the recently reported association between sex and mild ABCA4 alleles among patients with autosomal recessive Stargardt disease (STGD1) is reproducible.
DESIGN, SETTING, AND PARTICIPANTS
Sequencing and clinical data from 644 unrelated patients with genetically confirmed STGD1 were analyzed in a cross-sectional study at the Department of Ophthalmology, Columbia University, New York, New York. Data were collected from June 1999 to October 2020.
MAIN OUTCOMES AND MEASURES
Sex, best-corrected visual acuity, and age at onset among patients with STGD1 with and without mild ABCA4 alleles.
RESULTS
A total of 644 patients with STGD1 with at least 2 pathogenic variants were included in the study. The mean (SD) age was 38.6 (17.2) years, and 352 participants (54.7%) were female. The proportion of women was slightly higher in the entire cohort and in most allele categories, although none of the differences were statistically significant. The proportion of women carrying the c.5603A>T p.(Asn1868Ile) allele was 7% (95% CI, -9 to 23) higher than in the subgroup not carrying any mild alleles (P = .32). The proportion of women carrying the c.5882G>A p.(Gly1961Glu) allele was 2% (95% CI, -12 to 15) higher than in the subgroup not carrying any mild alleles (P = .77). The difference between the total mild allele subcohort and the no mild allele subcohort was 3% (95% CI, -8 to 14; P = .48). Compared with patients in the no mild allele category, patients with mild alleles exhibited significantly delayed disease onset (mean [SD] age, 23.1 [11.6] for those with the c.5882G>A allele and 31.7 [13.5] years for those with the c.5603A>T allele vs 18.6 [11.8] years for those with no mild alleles; P < .001) and preserved visual acuity (5882G>A subgroup: mean [SD] logMAR, 0.65 [0.66]; 95% CI, 0.63-0.68; c.5603A>T subgroup: 0.64 [0.39]; 95% CI, 0.58-0.70; those with no mild alleles: 1.00 [0.57]; 95% CI, 0.96-1.03; P < .001).
CONCLUSIONS AND RELEVANCE
This independent analysis of a larger cohort of individuals with Stargardt disease did not support the association between sex and certain mild ABCA4 alleles. While sex is undoubtedly an important variable in medicine, its putative association with clinical outcomes should be rigorously scrutinized.
Topics: ATP-Binding Cassette Transporters; Adult; Alleles; Cross-Sectional Studies; Female; Humans; Male; Mutation; Stargardt Disease; Visual Acuity; Young Adult
PubMed: 33792637
DOI: 10.1001/jamaophthalmol.2021.0460 -
Journal of Laboratory Physicians Jun 2023Lipemia is an important cause of preanalytical errors in laboratory results. They affect the specimen integrity and trustworthiness of laboratory results. The...
Lipemia is an important cause of preanalytical errors in laboratory results. They affect the specimen integrity and trustworthiness of laboratory results. The present study was to assess the impact of lipemia on routine clinical chemistry analytes. Anonymous leftover serum samples with normal levels of routine biochemical parameters were pooled. Twenty such pooled serum samples were used for the study. The samples were spiked with commercially available intralipid solution (20%) to produce lipemic concentrations of 0, 400 (mild, 20 μL), 1,000 (moderate, 50 μL), and 2,000 mg/dL (severe, 100 μL). Glucose, renal function test, electrolytes, and liver function test were estimated in all the samples. Baseline data without the effect of interference was considered as true value and percentage bias for the spiked samples was calculated. Interference was considered significant if the interference bias percentage exceeded 10%. Parameters like glucose, urea, creatinine, direct bilirubin, sodium, potassium, and chloride showed negative interference at mild and moderate lipemic concentration and positive interference at severe lipemic concentration. Parameters like aspartate transaminase (AST) and alanine transaminase (ALT) showed negative interference at mild and positive interference at moderate and severe lipemic concentration. Whereas uric acid, total protein, albumin, total bilirubin, alkaline phosphatase, gamma-glutamyl transferase, calcium, magnesium, and phosphorous showed positive interference at all concentrations. Significant interference (> 10%) was shown for magnesium (mild lipemia), albumin, direct bilirubin, ALT, and AST at moderate lipemic concentration. All parameters showed significant interference at severe lipemic concentration. All the study parameters are affected by lipemic interference at varying levels. Laboratory-specific data regarding lipemic interference at various concentrations on the clinical biochemistry parameters is needed.
PubMed: 37323607
DOI: 10.1055/s-0042-1758664 -
Neural Regeneration Research Jul 2024Patients with mild traumatic brain injury have a diverse clinical presentation, and the underlying pathophysiology remains poorly understood. Magnetic resonance imaging...
Patients with mild traumatic brain injury have a diverse clinical presentation, and the underlying pathophysiology remains poorly understood. Magnetic resonance imaging is a non-invasive technique that has been widely utilized to investigate neurobiological markers after mild traumatic brain injury. This approach has emerged as a promising tool for investigating the pathogenesis of mild traumatic brain injury. Graph theory is a quantitative method of analyzing complex networks that has been widely used to study changes in brain structure and function. However, most previous mild traumatic brain injury studies using graph theory have focused on specific populations, with limited exploration of simultaneous abnormalities in structural and functional connectivity. Given that mild traumatic brain injury is the most common type of traumatic brain injury encountered in clinical practice, further investigation of the patient characteristics and evolution of structural and functional connectivity is critical. In the present study, we explored whether abnormal structural and functional connectivity in the acute phase could serve as indicators of longitudinal changes in imaging data and cognitive function in patients with mild traumatic brain injury. In this longitudinal study, we enrolled 46 patients with mild traumatic brain injury who were assessed within 2 weeks of injury, as well as 36 healthy controls. Resting-state functional magnetic resonance imaging and diffusion-weighted imaging data were acquired for graph theoretical network analysis. In the acute phase, patients with mild traumatic brain injury demonstrated reduced structural connectivity in the dorsal attention network. More than 3 months of follow-up data revealed signs of recovery in structural and functional connectivity, as well as cognitive function, in 22 out of the 46 patients. Furthermore, better cognitive function was associated with more efficient networks. Finally, our data indicated that small-worldness in the acute stage could serve as a predictor of longitudinal changes in connectivity in patients with mild traumatic brain injury. These findings highlight the importance of integrating structural and functional connectivity in understanding the occurrence and evolution of mild traumatic brain injury. Additionally, exploratory analysis based on subnetworks could serve a predictive function in the prognosis of patients with mild traumatic brain injury.
PubMed: 38051899
DOI: 10.4103/1673-5374.387971 -
Pediatrics Jul 2018Incidental isolated mild to moderate thrombocytopenia is a frequent laboratory finding prompting a referral to pediatric hematology-oncology. We tested the hypothesis...
OBJECTIVES
Incidental isolated mild to moderate thrombocytopenia is a frequent laboratory finding prompting a referral to pediatric hematology-oncology. We tested the hypothesis that patients with isolated asymptomatic mild thrombocytopenia would not progress to require an intervention from a pediatric hematologist-oncologist.
METHODS
This is a 5-year retrospective review of 113 patients referred to pediatric hematology-oncology for isolated thrombocytopenia. Initial, lowest, and current platelet counts along with clinical course and need for interventions were recorded. Thrombocytopenia was categorized as mild (platelet count: 101-140 × 10/μL), moderate (platelet count: 51-100 × 10/μL), severe (platelet count: 21-50 × 10/μL), and very severe (platelet count: ≤20 × 10/μL).
RESULTS
Eight of 48 patients (17%) referred for initial mild isolated thrombocytopenia progressed to moderate thrombocytopenia at 1 visit. At present, 2 of these patients have moderate thrombocytopenia, 17 remain with mild thrombocytopenia, and 29 patients have resolved thrombocytopenia. Nine of 65 patients (14%) referred for moderate thrombocytopenia progressed to severe or very severe thrombocytopenia on 1 occasion. At present, no patients have severe thrombocytopenia, 18 remain with moderate thrombocytopenia, 14 improved to mild thrombocytopenia, and 33 have resolved thrombocytopenia. Only 3 patients required interventions from a hematologist, whereas 10 patients required therapy from other subspecialties.
CONCLUSIONS
We only identified 3 patients (3%) with mild to moderate thrombocytopenia who required an intervention from a hematologist to improve platelet counts. Patients with isolated mild thrombocytopenia with a normal bleeding history and physical examination findings frequently have normalized their platelet counts within 1 month.
Topics: Asymptomatic Diseases; Child; Disease Progression; Female; Humans; Male; Platelet Count; Prognosis; Referral and Consultation; Retrospective Studies; Risk Factors; Thrombocytopenia
PubMed: 29891565
DOI: 10.1542/peds.2017-3804 -
Current Alzheimer Research 2020Early detection of mild cognitive impairment is crucial in the prevention of Alzheimer's disease. The aim of the present study was to identify whether acoustic features...
BACKGROUND
Early detection of mild cognitive impairment is crucial in the prevention of Alzheimer's disease. The aim of the present study was to identify whether acoustic features can help differentiate older, independent community-dwelling individuals with cognitive impairment from healthy controls.
METHODS
A total of 8779 participants (mean age 74.2 ± 5.7 in the range of 65-96, 3907 males and 4872 females) with different cognitive profiles, namely healthy controls, mild cognitive impairment, global cognitive impairment (defined as a Mini Mental State Examination score of 20-23), and mild cognitive impairment with global cognitive impairment (a combined status of mild cognitive impairment and global cognitive impairment), were evaluated in short-sentence reading tasks, and their acoustic features, including temporal features (such as duration of utterance, number and length of pauses) and spectral features (F0, F1, and F2), were used to build a machine learning model to predict their cognitive impairments.
RESULTS
The classification metrics from the healthy controls were evaluated through the area under the receiver operating characteristic curve and were found to be 0.61, 0.67, and 0.77 for mild cognitive impairment, global cognitive impairment, and mild cognitive impairment with global cognitive impairment, respectively.
CONCLUSION
Our machine learning model revealed that individuals' acoustic features can be employed to discriminate between healthy controls and those with mild cognitive impairment with global cognitive impairment, which is a more severe form of cognitive impairment compared with mild cognitive impairment or global cognitive impairment alone. It is suggested that language impairment increases in severity with cognitive impairment.
Topics: Aged; Aged, 80 and over; Alzheimer Disease; Cognitive Dysfunction; Diagnosis, Differential; Female; Humans; Machine Learning; Male; Neuropsychological Tests; Speech
PubMed: 32053074
DOI: 10.2174/1567205017666200213094513 -
Journal of Alzheimer's Disease Reports Jan 2021How the relationship between obesity and MRI-defined neural properties varies across distinct stages of cognitive impairment due to Alzheimer's disease is unclear.
BACKGROUND
How the relationship between obesity and MRI-defined neural properties varies across distinct stages of cognitive impairment due to Alzheimer's disease is unclear.
OBJECTIVE
We used multimodal neuroimaging to clarify this relationship.
METHODS
Scans were acquired from 47 patients clinically diagnosed with mild Alzheimer's disease dementia, 68 patients with mild cognitive impairment, and 57 cognitively healthy individuals. Voxel-wise associations were run between maps of gray matter volume, white matter integrity, and cerebral blood flow, and global/visceral obesity.
RESULTS
Negative associations were found in cognitively healthy individuals between obesity and white matter integrity and cerebral blood flow of temporo-parietal regions. In mild cognitive impairment, negative associations emerged in frontal, temporal, and brainstem regions. In mild dementia, a positive association was found between obesity and gray matter volume around the right temporoparietal junction.
CONCLUSION
Obesity might contribute toward neural tissue vulnerability in cognitively healthy individuals and mild cognitive impairment, while a healthy weight in mild Alzheimer's disease dementia could help preserve brain structure in the presence of age and disease-related weight loss.
PubMed: 33681718
DOI: 10.3233/ADR-200267 -
American Journal of Alzheimer's Disease... 2023Explore associations between subjective mental impairment, objective cognitive performance, and subsequent decline in older individuals with different cognitive statuses...
OBJECTIVES
Explore associations between subjective mental impairment, objective cognitive performance, and subsequent decline in older individuals with different cognitive statuses in Taiwan.
METHODS
Use self-reported questionnaire and cognitive abilities screening instrument to assess subjective and objective cognitive function. Categorize participants as reporters or non-reporters based on subjective reports. Conduct t-tests and regression analysis.
RESULTS
206 participants were assessed: 99 cognitively intact (CI), 44 very mild dementia, and 63 mild dementia. In the CI group, reporters in memory, orientation, daily life, community affairs, and judgement domains performed worse than non-reporters. In very mild dementia group, reporters in memory and personality domains performed better than non-reporters. No association found between subjective reports and 1-year cognitive decline in dementia groups.
CONCLUSION
Association between subjective impairment and objective performance differs in CI and very mild dementia groups. Subjective reports do not predict 1-year cognitive decline in dementia patients. Longer follow-up studies needed.
Topics: Humans; Aged; Cognitive Dysfunction; Dementia; Cognition; Follow-Up Studies; Surveys and Questionnaires; Neuropsychological Tests
PubMed: 37559392
DOI: 10.1177/15333175231196061 -
IEEE Transactions on Bio-medical... Dec 2021In a few patients with mild COVID-19, there is a possibility of the infection becoming severe or critical in the future. This work aims to identify high-risk patients...
OBJECTIVE
In a few patients with mild COVID-19, there is a possibility of the infection becoming severe or critical in the future. This work aims to identify high-risk patients who have a high probability of changing from mild to critical COVID-19 (only account for 5% of cases).
METHODS
Using traditional convolutional neural networks for classification may not be suitable to identify this 5% of high risk patients from an entire dataset due to the highly imbalanced label distribution. To address this problem, we propose a Mix Contrast model, which matches original features with mixed features for contrastive learning. Three modules are proposed for training the model: 1) a cumulative learning strategy for synthesizing the mixed feature; 2) a commutative feature combination module for learning the commutative law of feature concatenation; 3) a united pairwise loss assigning adaptive weights for sample pairs with different class anchors based on their current optimization status.
RESULTS
We collect a multi-center computed tomography dataset including 918 confirmed COVID-19 patients from four hospitals and evaluate the proposed method on both the COVID-19 mild-to-critical prediction and COVID-19 diagnosis tasks. For mild-to-critical prediction, the experimental results show a recall of 0.80 and a specificity of 0.815. For diagnosis, the model shows comparable results with deep neural networks using a large dataset. Our method demonstrates improvements when the amount of training data is small or imbalanced.
SIGNIFICANCE
Identifying mild-to-critical COVID-19 patients is important for early prevention and personalized treatment planning.
Topics: COVID-19; COVID-19 Testing; Deep Learning; Humans; Neural Networks, Computer; SARS-CoV-2
PubMed: 34061732
DOI: 10.1109/TBME.2021.3085576