Category: Nevin Manimala

Cereb Cortex. 2023 Jan 20:bhac538. doi: 10.1093/cercor/bhac538. Online ahead of print.

ABSTRACT

Few tract-based spatial statistics (TBSS) studies have investigated the relations between intelligence and white matter microstructure in healthy (young) adults, and those have yielded mixed observations, yet white matter is fundamental for efficient and accurate information transfer throughout the human brain. We used a multicenter approach to identify white matter regions that show replicable structure-function associations, employing data from 4 independent samples comprising over 2000 healthy participants. TBSS indicated 188 voxels exhibited significant positive associations between g factor scores and fractional anisotropy (FA) in all 4 data sets. Replicable voxels formed 3 clusters, located around the left-hemispheric forceps minor, superior longitudinal fasciculus, and cingulum-cingulate gyrus with extensions into their surrounding areas (anterior thalamic radiation, inferior fronto-occipital fasciculus). Our results suggested that individual differences in general intelligence are robustly associated with white matter FA in specific fiber bundles distributed across the brain, consistent with the Parieto-Frontal Integration Theory of intelligence. Three possible reasons higher FA values might create links with higher g are faster information processing due to greater myelination, more direct information processing due to parallel, homogenous fiber orientation distributions, or more parallel information processing due to greater axon density.

PMID:36682883 | DOI:10.1093/cercor/bhac538

Genet Epidemiol. 2023 Jan 22. doi: 10.1002/gepi.22512. Online ahead of print.

ABSTRACT

BACKGROUND: Mendelian randomization (MR) leverages genetic data as an instrumental variable to provide estimates for the causal effect of an exposure X on a health outcome Y that is robust to confounding. Unfortunately, horizontal pleiotropy-the direct association of a genetic variant with multiple phenotypes-is highly prevalent and can easily render a genetic variant an invalid instrument.

METHODS: Building on existing work, we propose a simple method for leveraging sex-specific genetic associations to perform weak and pleiotropy-robust MR analysis. This is achieved by constructing an MR estimator in which pleiotropy is perfectly removed by cancellation, while placing it within the powerful machinery of the robust adjusted profile score (MR-RAPS) method. Pleiotropy cancellation has the attractive property that it removes heterogeneity and therefore justifies a statistically efficient fixed effects model. We extend the method from the typical two-sample summary-data MR setting to the one-sample setting by adapting the technique of Collider-Correction. Simulation studies and applied examples are used to assess how the sex-stratified MR-RAPS estimator performs against other common approaches.

RESULTS: The sex-stratified MR-RAPS method is shown to be robust to pleiotropy even in cases where all genetic variants violated the standard Instrument Strength Independent of Direct Effect assumption. In some cases where the strength of the pleiotropic effect additionally varied by sex (and so perfect cancellation was not achieved), over-dispersed MR-RAPS implementations can still consistently estimate the true causal effect. In applied analyses, we investigate the causal effect of waist-hip ratio (WHR), an important marker of central obesity, on a range of downstream traits. While the conventional approaches suggested paradoxical links between WHR and height and body mass index, the sex-stratified approach obtained a more realistic null effect. Nonzero effects were also detected for systolic and diastolic blood pressure as well as high-density and low-density lipoprotein cholesterol.

DISCUSSION: We provide a simple but attractive method for weak and pleiotropy robust causal estimation of sexually dimorphic traits on downstream outcomes, by combining several existing approaches in a novel fashion.

PMID:36682072 | DOI:10.1002/gepi.22512

Discov Oncol. 2023 Jan 22;14(1):8. doi: 10.1007/s12672-023-00619-0.

ABSTRACT

PURPOSE: Results of laryngeal squamous cell carcinoma (LSCC) treatment and the 5 year survival rate of these patients remain poor. To purify therapeutic targets, investigation of new specific and prognostic blood-based markers for LSCC development is essential.

METHODS: In the present study, we evaluated five single nucleotide polymorphisms (SNPs): IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, BLK rs13277113, and TIMP3 rs9621532, and determined their associations with the patients’ 5 year survival rate. Also, we performed a detailed statistical analysis of different LSCC patients’ characteristics impact on their survival rate.

RESULTS: Three hundred fifty-three LSCC patients and 538 control subjects were included in this study. The multivariable Cox regression analysis revealed a significant association between patients’ survival rate and distribution of IL1RAP rs4624606 variants: patients carrying AT genotype at IL1RAP rs4624606 had a lower risk of death (p = 0.044). Also, it was revealed that tumor size (T) (p = 0.000), tumor differentiation grade (G) (p = 0.015), and IL1RAP rs4624606 genotype (p = 0.044) were effective variables in multivariable Cox regression analysis prognosing survival of LSCC patients. The specific-LSCC 5 year survival rate was 77%.

CONCLUSIONS: In summary, our findings indicate that the genotypic distribution of IL1RAP rs4624606 influences the 5 year survival rate of LSCC patients. The results of the present study facilitate a more complete understanding of LSCC at the biological level, thus providing the base for the identification of new specific and prognostic blood-based markers for LSCC development.

PMID:36682035 | DOI:10.1007/s12672-023-00619-0

Theory Biosci. 2023 Jan 22. doi: 10.1007/s12064-023-00384-2. Online ahead of print.

ABSTRACT

There is an old attempt to divide the sciences into sciences of laws and the historical sciences. More recently, John Beatty has drawn the distinction so that biology is a historical science and urged that there are no genuinely biological laws. This paper shows that there are indeed biological laws, specifically statistical ones, notably in evolutionary theory. Moreover, all or almost all other areas of biology involve laws as well. Even history involves laws. Finally, the paper shows that this pervasiveness of laws is compatible with the most basic commitments of those who, like Beatty, would claim that biology is only historical.

PMID:36682024 | DOI:10.1007/s12064-023-00384-2

J Gerontol A Biol Sci Med Sci. 2023 Jan 22:glad025. doi: 10.1093/gerona/glad025. Online ahead of print.

ABSTRACT

BACKGROUND: Approximately 77% of older adults with dementia in Brazil have not been diagnosed, indicating a major public health issue. Previous epidemiological dementia studies in Brazil were based on data from one geopolitical region.

METHODS: We aimed to estimate the general and subgroup-specific (age, education, and sex) prevalence of dementia and cognitive impairment no dementia (CIND) classification using data from 5,249 participants aged 60 years and older from the ELSI-Brazil, a large nationally representative sample. Participants were classified as having normal cognitive function, CIND, or dementia based on a combination of the individual’s cognitive and functional status.

RESULTS: We found a general prevalence of 5.8% (95% CI=4.7-7.2) for dementia and 8.1% (95% CI=6.8-9.5) for CIND. Dementia prevalence ranged from 3.2% (60-64 years old) to 42.8% (≥ 90 years old) by age, and from 2.1% (College level or higher) to 16.5% (illiterates) by education. Females had a higher dementia prevalence (6.8%) than males (4.6%). CIND prevalence was similar across age, sex, and education.

CONCLUSIONS: The estimated dementia prevalence is lower than that in previous Brazilian epidemiological studies, but is in line with other Latin American studies. Only 1.2% of the ELSI-Brazil participants reported having a previous diagnosis of dementia, revealing that underdiagnosis is rampant and a common reality. Based on our results and national statistics projections, we estimate that in 2019 there were 1,757,480 million people aged 60 years and older living with dementia in Brazil and, at least, another 2,271,314 million having to deal with some form of cognitive impairment.

PMID:36682021 | DOI:10.1093/gerona/glad025

Psychometrika. 2023 Jan 22. doi: 10.1007/s11336-022-09900-7. Online ahead of print.

ABSTRACT

The specification of the [Formula: see text] matrix in cognitive diagnosis models is important for correct classification of attribute profiles. Researchers have proposed many methods for estimation and validation of the data-driven [Formula: see text] matrices. However, inference of the number of attributes in the general restricted latent class model remains an open question. We propose a Bayesian framework for general restricted latent class models and use the spike-and-slab prior to avoid the computation issues caused by the varying dimensions of model parameters associated with the number of attributes, K. We develop an efficient Metropolis-within-Gibbs algorithm to estimate K and the corresponding [Formula: see text] matrix simultaneously. The proposed algorithm uses the stick-breaking construction to mimic an Indian buffet process and employs a novel Metropolis-Hastings transition step to encourage exploring the sample space associated with different values of K. We evaluate the performance of the proposed method through a simulation study under different model specifications and apply the method to a real data set related to a fluid intelligence matrix reasoning test.

PMID:36682019 | DOI:10.1007/s11336-022-09900-7

Eur Phys J E Soft Matter. 2023 Jan 22;46(1):4. doi: 10.1140/epje/s10189-023-00260-3.

ABSTRACT

Vortices are hallmarks of a wide range of nonequilibrium phenomena in fluids at multiple length scales. In this work, we numerically study the whirling motion of self-propelled soft point particles confined in circular domain, and aim at addressing the stability issue of the coherent vortex structure. By the combination of dynamical and statistical analysis at the individual particle level, we reveal the persistence of the whirling motion resulting from the subtle competition of activity and geometric confinement. In the stable whirling motion, the scenario of the coexistence of the irregular microscopic motions of individual particles and the regular global whirling motion is fundamentally different from the motion of a vortex in passive fluid. Possible orientational order coexisting with the whirling are further explored. This work shows the stability mechanism of vortical dynamics in active media under the alignment rule in confined space and may have implications in creating and harnessing macroscale coherent dynamical states by tuning the confining geometry.

PMID:36682015 | DOI:10.1140/epje/s10189-023-00260-3

Orv Hetil. 2023 Jan 22;164(3):96-103. doi: 10.1556/650.2023.32662. Print 2023 Jan 22.

ABSTRACT

INTRODUCTION: Morbidity and mortality statistics show a shift in the morbidity structure in Hungary. Those diseases have become increasingly common that are related to lifestyle. Detecting health risk factors across different age, gender and other groups is therefore a priority.

OBJECTIVE: The purpose of the study is to present anthropometric variables related to the health status of male physical workers by age groups and to identify critical age stages.

METHOD: Male manual workers (n = 179) were recruited on a voluntary basis. Body composition was assessed using the Inbody 720 instrument. Measured and calculated characteristics included body mass index, relative muscle and fat mass, waist-to-hip ratio and visceral fat. The age dependence of the variables is presented by linear regression analysis, and the relationship between variables was characterized by correlation coefficients.

RESULTS: A significant number of anthropometric variables are not within the healthy range. All of the variables show age dependence, but no critical age or age range could be identified. The relationship between the anthropometric methods is significant.

DISCUSSION: A large number of male manual workers, regardless of age, can be identified as having a body composition that poses a clear health risk.

CONCLUSION: Complex workplace health promotion programs should be launched to reduce the risk. These should include active and health-conscious lifestyles for all age groups. Orv Hetil. 2023; 164(3): 96-103.

PMID:36681995 | DOI:10.1556/650.2023.32662

J Neurosurg. 2022 Nov 11:1-10. doi: 10.3171/2022.9.JNS22826. Online ahead of print.

ABSTRACT

OBJECTIVE: Subfrontal meningiomas grow insidiously in areas with high cerebral compliance and a relative scarcity of eloquent function. Symptoms develop progressively, are nonspecific, and include anosmia, changes in personality and cognition, depressive symptoms, headaches, visual disturbances, and seizures. Patients with subfrontal meningiomas carry the highest risk of developing psychological symptoms, which makes patient-reported outcome in terms of long-term health-related quality of life (HRQOL), anxiety, and depression of particular importance. This observational study aimed to investigate long-term HRQOL, anxiety, and depression in patients with subfrontal meningiomas who underwent a bifrontal craniotomy (subfrontal) approach between 2008 and 2017 at a single tertiary center. Correlations between preoperative, perioperative, and postoperative factors and HRQOL, anxiety, and depression were analyzed to detect prognostic factors.

METHODS: Seventy-seven consecutive patients who underwent operations at Rigshospitalet, Copenhagen, Denmark, between 2008 and 2017 were retrospectively analyzed. Patients were prospectively invited to respond to the Functional Assessment of Cancer Therapy-General, Functional Assessment of Cancer Therapy-Brain, and Hospital Anxiety and Depression Scale. Information regarding preoperative, perioperative, and postoperative factors were collected from the patients’ medical records and scans.

RESULTS: Patients with subfrontal meningiomas exhibited better HRQOL and lower levels of anxiety and depression than general populations and other meningioma and glioblastoma cohorts. The only statistically significant prognostic factors for long-term HRQOL were number of symptoms at diagnosis and whether patients were discharged home or to a local hospital postoperatively. Tumor and peritumoral brain edema volumes were not prognostic factors.

CONCLUSIONS: Patients with subfrontal meningiomas exhibited better long-term postoperative HRQOL and were less likely to have anxiety or depression than the reference populations. This information on long-term prognosis is very valuable for patients, next of kin, and neurosurgeons and has not been previously studied in detail.

PMID:36681993 | DOI:10.3171/2022.9.JNS22826

J Neurosurg. 2022 Nov 11:1-9. doi: 10.3171/2022.9.JNS22779. Online ahead of print.

ABSTRACT

OBJECTIVE: Trigeminal schwannoma is a rare CNS tumor and involves the multicompartmental skull base. Recently, the endoscopic transorbital approach (ETOA) has emerged as a technique for minimally invasive surgery. The objective of this study was to evaluate the optimal indications and clinical outcomes of the ETOA for trigeminal schwannomas based on their tumor classification.

METHODS: Between September 2016 and February 2022, the ETOA was performed in 50 patients with trigeminal schwannoma at four tertiary hospitals. There were 15 men and 35 women in the study, with a mean age of 46.9 years. All tumors were classified as type A (predominantly involving the middle cranial fossa), type B (predominantly involving the posterior cranial fossa), type C (dumbbell-shaped tumors involving the middle and posterior fossa), or type D (involvement of the extracranial compartment). Type D tumors were also subclassified by ophthalmic division (D1), maxillary division (D2), and mandibular division (D3). Clinical outcome was analyzed, including extent of resection and surgical morbidities.

RESULTS: In this study, overall gross-total resection (GTR) was performed in 35 (70.0%) of 50 patients and near-total resection (NTR) in 9 patients (18.0%). The mean follow-up period was 21.9 (range 1-61.7) months. There was no tumor regrowth or recurrence during the follow-up period. Based on the classification, there were 17 type A tumors, 20 type C, and 13 type D. There were no type B tumors. Of the 13 type D tumors, 7 were D1, 1 D2, and 5 D3. For type A tumors, GTR or NTR was achieved using an ETOA in 16 (94.1%) of 17 patients. Eighteen (90.0%) of 20 patients with type C tumors attained GTR or NTR. Ten (76.9%) of 13 patients with type D tumors underwent GTR. Statistical analysis showed that there was no significant difference in the extent of resection among the tumor subtypes. Surgical complications included transient partial ptosis (n = 4), permanent ptosis (n = 1), transient diplopia (n = 7), permanent diplopia (n = 1), corneal keratopathy (n = 7), difficulties in mastication (n = 5), and neuralgic pain or paresthesia (n = 14). There were no postoperative CSF leaks or enophthalmos during follow-up.

CONCLUSIONS: This study showed that trigeminal schwannomas can be effectively treated with a minimally invasive ETOA in all tumor types, except those predominantly involving the posterior fossa (type B). For the extracranial compartments, D2 or D3 tumor types often require an ETOA combined with the endoscopic endonasal approach, while D1 tumor types can be treated using an ETOA alone.

PMID:36681991 | DOI:10.3171/2022.9.JNS22779