True Association Research Articles

Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder

BackgroundObsessive–compulsive disorder (OCD) is a common and often highly debilitating chronic neuropsychiatric condition. There is substantial evidence that immune system and genetic changes are involved in OCD pathogenesis. Only a few studies have been encountered in the literature in this field. We aimed at providing experimental evidence for single nucleotide polymorphisms (SNPs) in candidate cytokine genes for the etiology of OCD.MethodsA total of 52 OCD patients and 54 healthy controls were randomly recruited from the Jordanian population. Age ranged between 16 and 55 years (35.5 ± 13.72 and 33.5 ± 10.48 years) for patients and controls, respectively. Five polymorphic positions in four interleukin genes (IL-1β; rs16944 and rs1143634, IL-6; rs1800795, IL-10; rs1800896 and rs1800795) were genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method. The tumor necrosis factor-α (TNF-α) SNP (rs1800629) DNA was sequenced by the Sanger method. The obtained data were analyzed using the GraphPad Prism method.ResultsThere were no statistically significant differences between the alleles and genotypes in opposite groups. However, there was a positive association between the incidence of the studied SNP cytokine genes in OCD patients and non-OCD individuals. The alleles of two SNPs (IL-1β + 3954 C > T and TNF-α-308 G > A) were more predominant and more positively correlated with a higher risk in OCD women. In contrast, the link between the gender and the occurrence of the mutant alleles of the other four SNPs IL-1β (− 511 C > T); IL-6 (− 174 G > C); IL-10 (− 1082 A > G); and IL-10 (− 819 C > T was more robust in the males OCD patients than the corresponding females.ConclusionThe observed differences between the alleles in different groups may be due to an association in the tested samples rather than a true association. But, the possibility of a critical effect still exists. One might want to explore this further by repeating the study with a larger sample size.

Clinical Study of Lipid Profile in Intracerebral Haemorrhage in Tertiary care Center

Background: Stroke caused by Intracerebral haemorrhage (ICH) has high mortality rate. Among various risk factors for ICH, hypertension is the most important factor. Certain population studies have reported a paradox of inverse association between serum cholesterol and risk of ICH. Aims and objectives: The study aim was to evaluate the serum lipid profile total cholesterol (TC), triglycerides (TGL), high density cholesterol (HDL-C), very low density cholesterol (VLDL-C) and low density cholesterol (LDL-C) in intracerebral haemorrhage patients and look for correlation. Methods: 50 patients with ICH admitted in Chalmeda Anand Rao Institute of Medical Sciences, Karimnagar who fulfilled the inclusion and exclusion criteria were selected. The study design was a hospital based observational clinical study. History, clinical examination and investigations (CT & MRI Brain and basic blood biochemistry with serum lipid profile) were collected and the data were analysed statistically. Results: Majority of the ICH patients in our study were >55 years and were males. The total serum cholesterol was < 200mg/dl in 72 % of our patients, with a mean of 168.09 ±43.74mg%. Serum triglyceride level was patients, with mean of 108.26±43.31mg%. HDL-C was < 40 mg/dl in 76% of patients and VLDL-C was < 30mg/dl in 72% patients. The various lipid fractions observed were found to be low in majority of our ICH patients (p value < 0.05), suggesting a negative association between the two. The results obtained were comparable to other similar studies. Conclusion: Majority of intracerebral haemorrhage patients in our study had lower levels of total cholesterol, triglyceride, HDL-C, LDL-C and VLDL-C. Whether the inverse association between serum lipid levels and ICH is a true causal association or only by chance due to other common confounding factors needs to be evaluated with large scale studies.

Confirming Increased Statistical Errors in Testing Correlations from Small Sample Sizes

ABSTRACT Small sample sizes contribute to several problems in research and knowledge advancement. This conceptual replication study confirmed and extended the inflation of type II errors and confidence intervals in correlation analyses of small sample sizes common in kinesiology/exercise science. Current population data (N = 18, 230, & 464) on four mechanical variables of three kinds of tennis strings were used to study the effect of small randomly selected sample sizes. All small sample sizes (n = 10, 25, 50, & 100) had one to three type II errors in statistical tests of the six pairwise correlations and partial correlations but no type I errors. Correlation coefficients from these small sample sizes had imprecise mean confidence interval widths (.34 to 1.08) that limit accurate statistical inferences, sizes of associations, and are most vulnerable to not detecting small (ρ < .4) true associations in the population. These data confirm that there are likely numerous type II errors and imprecise correlation coefficients in KSES studies using small samples sizes that may slow the knowledge advancement of the field.

Genome-Wide Association Study for Resistance to Phytophthora sojae in Soybean [Glycine max (L.) Merr.

Phytophthora sojae (Kauffman and Gerdemann) is an oomycete pathogen that threatens soybean (Glycine max L.) production worldwide. The development of soybean cultivars with resistance to this pathogen is of paramount importance for the sustainable management of the disease. The objective of this study was to identify genomic regions associated with resistance to P. sojae isolate 40468 through genome-wide association analyses of 983 soybean germplasms. To elucidate the genetic basis of resistance, three statistical models were employed: the compressed mixed linear model (CMLM), Bayesian-information and linkage disequilibrium iteratively nested keyway (BLINK), and fixed and random model circulating probability unification (FarmCPU). The three models consistently identified a genomic region (3.8-5.3 Mbp) on chromosome 3, which has been previously identified as an Rps cluster. A total of 18 single nucleotide polymorphisms demonstrated high statistical significance across all three models, which were distributed in eight linkage disequilibrium (LD) blocks within the aforementioned interval. Of the eight, LD3-2 exhibited the discernible segregation of phenotypic reactions by haplotype. Specifically, over 93% of accessions with haplotypes LD3-2-F or LD3-2-G displayed resistance, whereas over 91% with LD3-2-A, LD3-2-C, or LD3-2-D exhibited susceptibility. Furthermore, the BLINK and FarmCPU models identified new genomic variations significantly associated with the resistance on several other chromosomes, indicating that the resistance observed in this panel was due to the presence of different alleles of multiple Rps genes. These findings underscore the necessity for robust statistical models to accurately detect true marker-trait associations and provide valuable insights into soybean genetics and breeding.

Genetic association between autoimmune thyroiditis and microscopic polyangiitis: A two-sample Mendelian randomization study.

Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is a group of life-threatening autoimmune small vessel vasculitis and the prognosis depends heavily on whether a prompt diagnosis is achieved. Autoimmune thyroiditis is the most common autoimmune endocrine disease and could overlap with other autoimmune diseases. It remains elusive whether autoimmune thyroiditis affects the risk of AAV development. We performed a 2-sample Mendelian randomization analysis to explore the true association between autoimmune thyroiditis and microscopic polyangiitis (MPA), a subtype of AAV. Independent single-nucleotide polymorphisms associated with Hashimoto thyroiditis or Grave disease with genome-wide significance were selected as instrumental variables from large genome-wide association study. MPA genome-wide association study summary statistics were obtained from FinnGen consortium. The inverse-variance weighted method was conducted as the primary analysis for estimating the effect of the exposure on the outcome. Mendelian randomization-Egger and the weighted median method were used to confirm the results. We found a causal association between Hashimoto thyroiditis and MPA while no causal effect of Grave disease on MPA. This study contributed a genetic viewpoint to the understanding of the link between autoimmune thyroiditis and AAV.

Neuropsychiatric Symptoms Associated With Frontotemporal Atrophy in Older Adults Without Dementia.

We investigated the association between neuropsychiatric symptoms (NPS) and frontotemporal atrophy (FTA) in older adults without dementia. We hypothesized that the odds of having NPS would be increased in the presence of FTA. NACC participants ≥ 50years old with available data on FTA were considered for eligibility. Those with a diagnosis of mild cognitive impairment (MCI) and those who were cognitively unimpaired (CU) were separately analyzed. NPS were quantified on the Neuropsychiatric Inventory Questionnaire. Binary logistic regression models estimated the association (odds ratios and 95% confidence intervals are provided) between FTA and having each of 11 NPS (psychotic symptoms were grouped together) in CU and MCI individuals. FTA data were available for 3165 participants with MCI and 4051 CU: 207 and 55 had FTA on structural MRI studies, respectively. In the MCI group, the presence of FTA was associated with higher odds of having elation [2.42(1.33-4.40), p=0.004], aberrant motor behavior [2.43(1.61-3.69), p<0.001], appetite disorders [2.15(1.52-3.04), p<0.001], apathy [2.05(1.48-2.85), p<0.001] and disinhibition [2.02(1.38-2.96), p<0.001]. The odds of having specific NPS were not significantly elevated in CU individuals with FTA. Of note, the size and direction of the associations were indicative of a potential relationship between FTA and specific NPS (most notably elation, aberrant motor behavior, appetite disorders and anxiety); in light of the small number of CU individuals with FTA we believe this analysis was underpowered and obscured several true associations. FTA was associated with higher odds of some NPS in older adults with MCI but not with normal cognition.

Note on the radical inflation in the estimates of error variance in measurement models

This note discusses the radical technical inflation in error variance and the related standard error of test scores from both conceptual and empirical viewpoints. This technical inflation arises as a direct consequence of the technical underestimation of item-score correlation by the product–moment coefficient of correlation (PMC), which is embedded in the traditional estimators of reliability such as coefficients alpha, theta, omega, or rho (maximal reliability). Specifically, in educational settings where compilations usually include both easy and difficult items, the estimate by PMC may substantially deviate from the true association between an item and the score. Consequently, the use of traditional estimators of reliability leads to technically inflated estimates of standard errors, as the error variance related to these traditional measurement models is significantly inflated, resulting in deflated reliability estimates. In educational testing, employing deflation-corrected standard errors, calculated using deflation-corrected reliability estimators, would provide a more accurate measure of the test score’s true precision.

Impact of statins on incidence of gastrointestinal bleeding events among patients with continuous-flow left ventricular assist devices.

Patients with continuous flow left ventricular assist devices (CF-LVADs) are at increased risk of gastrointestinal bleeding (GIB). Statins are commonly prescribed in LVAD patients for cardiovascular disease prevention. However, their impact on GIB events is controversial. Importantly, literature regarding statins impact on GIB in CF-LVAD patients is lacking. A single-center, retrospective review of adult patients who underwent CF-LVAD implantation between May 2016 and January 2020 was performed. Patients were categorized based on statin use throughout the study period. The primary outcome was the composite of arteriovenous malformation confirmed GIB and major GIB events for up to 1-year post-LVAD implantation. Of 123 patients included in the final analysis, 66 (54%) received statin therapy during the study period. No difference was observed in the primary outcome between the statin and control groups (RR: 1.73; 95% CI: 0.75-3.98; p=0.20). Multivariable Cox regression revealed that older age and higher baseline creatinine were associated with an increased risk of GIB within 1-year of CF-LVAD implantation. Among patients with CF-LVADs, there was no significant difference in the incidence of major GIB events associated with the use of statin therapy. Further studies are needed to assess whether a true association exists.

Vitamin D deficiency and thyroid cancer: is there a true association? A prospective observational study.

Literature data indicate a correlation between vitamin D deficiency and thyroid cancer (TC). We conducted this observational study to test this hypothesis. We studied 327 consecutive thyroidectomy cases, and compared patients with TC and those who had benign thyroid disease (BTD). In total, 183 cases with well-differentiated TC (group B) were compared with 144 cases of BTD (group A). We defined 25-hydroxyvitamin D (25(OH)VitD) values <10ng/ml as severe vitamin D deficiency (15.4%), 10-30ng/ml as inadequacy (70.4%) and >30ng/ml as adequate (14.2%). We further used a cut-off point of 30ng/ml (used in a recent meta-analysis) to classify patients as vitamin D deficient or not. There was no statistically significant difference in the following: age, size of the thyroid gland, preoperative calcium levels, preoperative parathormone and vitamin D levels, body mass index and anti-thyroid antibodies. Only thyroid-stimulating hormone and weight of the thyroid gland were found to differ. There was no significant difference in mean vitamin D levels (group A = 19.82ng/ml [sd 9.59] vs group B = 19.69ng/ml [sd 11.34]; p = 0.917). The same was found when we compared the two groups according to the three categories of vitamin D values (deficiency, inadequacy, adequacy; p = 0.485) and when we performed the analysis based on all threshold levels (10, 20 and 30ng/ml; p = 0.328). Using various statistical methods, no correlation was found between vitamin D deficiency and differentiated TC (overall, microcarcinomas, macrocarcinomas). Based on our results, no correlation between vitamin D deficiency and TC was confirmed, contradicting and questioning the results of two recent meta-analyses.

Quantitative sensory testing and chronic pain syndromes: a cross-sectional study from TwinsUK

ObjectiveThe chronic pain syndromes (CPS) include syndromes such as chronic widespread pain (CWP), dry eye disease (DED) and irritable bowel syndrome (IBS). Highly prevalent and lacking pathognomonic biomarkers, the CPS...

Prognostic impact of myosteatosis on survival with immune checkpoint inhibitors: A systematic review and meta-analysis

Myosteatosis has emerged as a promising prognostic biomarker for survival outcomes in patients with advanced cancer. However, recent research has yielded conflicting results on the association between myosteatosis and survival in patients treated with immune checkpoint inhibitors (ICIs). Therefore, we performed this systematic review and meta-analysis to evaluate the association between myosteatosis and survival outcomes in patients treated with ICIs. We conducted a systematic review using Pubmed, Web of Science, and Scopus databases for studies published until June 10, 2024. This protocol was registered in the PROSPERO database (Registration Number: CRD42023466337). We performed the meta-analyses with the generic inverse-variance method with a random effects model. Eleven studies involving 1362 patients were included. The pooled analysis showed that patients with myosteatosis had a significantly higher risk of death compared to patients without myosteatosis (HR: 1.61, 95% CI: 1.23-2.12, p<0.001). Subgroup analysis revealed this association was stronger in melanoma patients (HR: 2.07, 95% CI: 1.09-3.94, p=0.030). Furthermore, patients with myosteatosis had an increased risk of progression or death than those without myosteatosis (HR: 1.31, 95% CI: 1.05-1.64, p=0.020). Myosteatosis is associated with a higher risk of death in ICI-treated patients. Further research in larger cohorts is needed to standardize the definition of myosteatosis as well as the true mechanistic association between myosteatosis and survival in patients treated with ICIs.

Maternal symptoms of depression and anxiety as modifiers of the relationship between prenatal phthalate exposure and infant neurodevelopment in the Atlanta African American maternal-child cohort

BackgroundPrenatal exposure to phthalates, a group of synthetic chemicals widely used in consumer products, has previously been associated with adverse infant and child development. Studies also suggest that maternal depression and anxiety, may amplify the harmful effects of phthalates on infant and child neurodevelopment. Study designOur analysis included a subset of dyads enrolled in the Atlanta African American Maternal-Child Cohort (N = 81). We measured eight phthalate metabolites in first and second trimester (8–14 weeks and 24–32 weeks gestation) maternal urine samples to estimate prenatal exposures. Phthalate metabolite concentrations were averaged across visits and natural log-transformed for analysis. Maternal symptoms of depression and anxiety were assessed using validated questionnaires (Edinberg Postnatal Depression Scale and State Trait Anxiety Inventory, respectively) and the total score on each scale was averaged across study visits. The NICU Network Neurobehavioral Scale (NNNS) was administered at two weeks of age. Our primary outcomes included two composite NNNS scores reflecting newborn attention and arousal. Linear regression was used to estimate associations between individual phthalate exposures and newborn attention and arousal. We assessed effect modification by maternal depression and anxiety. ResultsHigher levels of urinary phthalate metabolites were not associated with higher levels of infant attention and arousal, but true associations may still exist given the limited power of this analysis. In models examining effect modification by maternal depression, we observed that an interquartile range increase in mono (2-ethlyhexyl) phthalate (MEHP), mono (2-ethyl-5-oxohexyl) phthalate (MEOHP), and mono (2-ethyl-5-hydroxyhexyl) phthalate (MEHHP) was associated with a significant increase in newborn arousal only among those with high depressive symptoms (MEHP: β = 0.71, 95% confidence interval [CI] = 0.10, 1.32 for high, β = −0.30, 95% CI = −0.73, 0.12 for low; MEOHP: β = 0.60, 95% CI = −0.03, 1.23 for high, β = −0.12, 95% CI = −0.58, 0.33 for low; MEHHP: β = 0.54, 95% CI = −0.04, 1.11 for high, β = −0.11, 95% CI = −0.54, 0.32 for low). Similar patterns were observed in models stratified by maternal anxiety, although CIs were wide. ConclusionOur results suggest maternal anxiety and depression symptoms may exacerbate the effect of phthalates on infant neurodevelopment. Future studies are needed to determine the optimal levels of attention and arousal in early infancy.

Causality-inspired Domain Expansion network for single domain generalization

Most existing single domain generalization (SDG) methods focus on extending the distribution of the training data to achieve good generalizability in the target domain by synthesizing out-of-domain data. However, in practice, the generated data are insufficient to cover all possible shifts. When the target distributions are not covered, the spurious associations between irrelevant features and labels captured by a model will deteriorate the generalization performance. To alleviate this problem, in this paper, we first analyze that augmenting the source domain with samples of new styles (e.g., different backgrounds) can mitigate spurious associations between irrelevant features and labels from a causal perspective, which can reduce the interference of non-causal features on the classification labels then propose a novel Causality-inspired Domain Expansion Network (CDEN) for SDG. Specifically, CDEN contains a domain augmentation subnetwork and a representation learning subnetwork. The former uses a special style generator module AdaIN∗ to generate out-of-domain data with the same semantic information but different styles from the source domain data to help the model capture true associations between discriminative features and labels. The latter introduces a novel class-level contrastive learning, instance-level contrastive learning, and invariant risk minimization to help the model further eliminate spurious associations. CDEN progressively generates diverse style data and learns domain invariant representations containing few spurious associations by optimizing the two subnetworks in an adversarial learning manner. We conduct extensive experiments on three benchmark datasets to evaluate the superiority of CDEN, comparing it to fifteen state-of-the-art methods.

Beyond the standard GWAS - a guide for plant biologists.

Classic genome-wide association studies (GWAS) look for associations between individual SNPs and phenotypes of interest. With the rapid progress of high-throughput genotyping and phenotyping technologies, GWAS have become increasingly powerful for detecting genetic determinants and their molecular mechanisms underpinning natural phenotypic variation. However, GWAS frequently yield results with neither expected nor promising loci, nor any significant associations. This is often because associations between SNPs and a single phenotype are confounded, for example with the environment, other traits, or complex genetic structures. Such confounding can mask true genotype-phenotype associations, or inflate spurious associations. To address these problems, numerous methods have been developed that go beyond the standard model. Such advanced GWAS models are flexible and can offer improved statistical power for understanding the genetics underlying complex traits. Despite this advantage, these models have not been widely adopted and implemented compared to the standard GWAS approach, partly because this literature is diverse and often technical. In this review, our aim is to provide an overview of the application and the benefits of various advanced GWAS models for handling complex traits and genetic structures, targeting plant biologists who wish to carry out GWAS more effectively.

Fetal Exposure to Tobacco Metabolites and Depression During Adulthood: Beyond Binary Measures.

Sibling studies of maternal smoking during pregnancy and subsequent risk of depression have produced mixed results. A recent study identified not considering the amount of maternal smoking and age of onset as potentially masking a true association. We examine these issues and also the amount of maternal smoking during pregnancy as a determinant of the severity of depressive symptoms. We analyzed data from the community-based National Longitudinal Survey of Youth (US, 1994-2016). Mothers reported smoking during pregnancy (none, <1 pack/day, ≥1 pack/day). We assessed offspring's lifetime depression (i.e., ≥8 symptoms) and symptom counts with the Centers for Epidemiologic Studies Depression scale. We estimated the risk of these two outcomes in the full sample (n = 7172) and among siblings (n = 6145) using generalized linear mixed-effects models with random intercepts by family and family-averaged means for sibling analyses. Among siblings, we observed dose-dependent elevations for both risk of depression (smoking during pregnancy <1 pack/day adjusted risk ratio [aRR] = 1.18; 95% confidence interval [CI] = 1.07, 1.30; smoking ≥1 aRR = 1.36; 95% CI = 1.19, 1.56) and severity of depressive symptoms (smoking <1 pack/day aRR = 1.12; 95% CI = 1.08, 1.16); smoking ≥1 pack/day aRR = 1.25; 95% CI = 1.18, 1.31). Among both samples, the P for trend was <0.01. In analysis limited to offspring diagnosed before age 18, results for severity were attenuated. This evidence supports the existence of an independent association between maternal smoking during pregnancy and both the risk of depression and the severity of depressive symptoms. The results highlight the utility of considering the amount of smoking, severity of symptoms, and age of onset.

PENGELOLAAN VEGETASI DI KAWASAN EKOWISATA MANGROVE PERANCAK, JEMBRANA

Perancak mangrove forest is one of the important supporters for mangrove ecotourism in perancak as an ecosystem that functions ecologically, economically and socially as an effort to preserve the beach in a sustainable manner. This research aims to determine the level of diversity of mangrove vegetation types in the perancak coastal area and conduct mangrove management efforts through vegetation analysis and soil analysis. Sampling carriedout on true mangroves and associated mangroves using purposive sampling technique. The method of flora sampling was carried out by quadrant method by calculating the important value index, diversity index and type distribution pattern. True mangroves consist of 13 species and 1367 individuals, dominated by rhyzophora stylosa, with a total importance index (indeks nilai penting)= 299.86 % (classified as sestable), diversity index 1.1192 and distribution pattern = 0.548 (vegetation is stable and uniform). Associate mangroves consists of 13 types and 649 individuals, dominated by the type Terminalia cattapa. Important index =297.892 %, diversity index = 0.9438 and type distribution pattern = 0.73 i.e vegetation that grows is classified as uniform. Analysis results for the 5 soil samples for total n, p and k elements available and organic c, all support mangrove growth. the development of true mangroves and associations is the main supporting factor for the development of tourism areas in the perancak jembrana ecotourism area which is now developing into a beach park developed by the people of Perancak village. Keywords: Perancak; Mangrove Diversity; Management; Soil Analysis

Helicobacter Pylori and Alopecia Areata: A True Association or Coincidental Finding?

Background: This article examines the possible correlation between Helicobacter pylori (H. pylori) infection and alopecia areata, a condition characterized by hair loss. Despite H. pylori's conventional association with gastrointestinal problems, recent investigations have explored its potential links to autoimmune disorders, including alopecia areata. Early research suggested a higher prevalence of H. pylori in alopecia patients, but subsequent studies presented conflicting findings. Some studies measured H. pylori surface antigen (HpSag) in stool samples, yielding diverse outcomes. Another study used the urea breath test (UBT) and found a significant association between H. pylori and alopecia areata. A unique case demonstrated symptom control and disease remission following H. pylori eradication. However, the article highlights the inconclusive nature of existing research, the limitations of study designs and the absence of post-eradication data on alopecia symptoms. Conclusion: The need for more advanced studies is emphasized, along with the importance of exploring therapeutic implications. The article concludes that while intriguing, the potential link between H. pylori and alopecia areata requires more comprehensive research, especially in diverse demographic groups, to gain a better understanding of its universality and broader implications.

Addressing bias in preterm birth research: The role of advanced imputation techniques for missing race and ethnicity in perinatal health data

ObjectivesTo evaluate the effectiveness of Bayesian Improved Surname Geocoding (BISG) and Bayesian Improved First Name Surname Geocoding (BIFSG) in estimating race and ethnicity, and how they influence odds ratios for preterm birth. MethodsWe analyzed hospital birth admission electronic health records (EHR) data (N = 9985). We created two simulation sets with 40 % of race and ethnicity data missing randomly or more likely for non-Hispanic black birthing people who had preterm birth. We calculated C-statistics to evaluate how accurately BISG and BIFSG estimate race and ethnicity. We examined the association between race and ethnicity and preterm birth using logistic regression and reported odds ratios (OR). ResultsBISG and BIFSG showed high accuracy for most racial and ethnic categories (C-statistics = 0.94–0.97, 95 % confidence intervals [CI] = 0.92–0.97). When race and ethnicity were not missing at random, BISG (OR = 1.25, CI = 0.97–1.62) and BIFSG (OR = 1.38, CI = 1.08–1.76) resulted in positive estimates mirroring the true association (OR = 1.68, CI = 1.34–2.09) for Non-Hispanic Black birthing people, while traditional methods showed contrasting estimates (Complete case OR = 0.62, CI = 0.41–0.94; multiple imputation OR = 0.63, CI = 0.40–0.98). ConclusionsBISG and BIFSG accurately estimate missing race and ethnicity in perinatal EHR data, decreasing bias in preterm birth research, and are recommended over traditional methods to reduce potential bias.

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood.

Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH). All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy. Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains. The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism. Long-term follow-up is required to discern the true association between PVNH seen on prenatal imaging and postnatal seizures/epilepsy and neurodevelopmental outcomes.

Age Suppresses the Association Between Traumatic Brain Injury Severity and Functional Outcomes: A Study Using the NIDILRR TBIMS Dataset.

Recovery from traumatic brain injury (TBI) is extremely difficult to predict, with TBI severity usually demonstrating weak predictive validity for functional or other outcomes. A possible explanation may lie in the statistical phenomenon called suppression, according to which a third variable masks the true association between predictor and outcome, making it appear weaker than it actually is. Age at injury is a strong candidate as a suppressor because of its well-established main and moderating effects on TBI outcomes. We tested age at injury as a possible suppressor in the predictive chain of effects between TBI severity and functional disability, up to 10years post-TBI. Follow-up interviews were conducted during telephone interviews. We used data from the 2020 NDILRR Model Systems National Dataset for 4 successive follow-up interviews: year 1 ( n =10,734), year 2 ( n =9174), year 5 ( n =6,201), and year 10 ( n =3027). Successive cross-sectional multiple regression analyses. Injury severity was operationalized using a categorical variable representing duration of posttrauma amnesia. The Glasgow Outcomes Scale-Extended (GOS-E) operationally defined functioning. Sociodemographic characteristics having significant bivariate correlations with GOS-E were included. Entry of age at injury into the regression models significantly increases the association between TBI severity and functioning up to 10years post-TBI. Age at injury is a suppressor variable, masking the true effect of injury severity on functional outcomes. Identifying the mediators of this suppression effect is an important direction for TBI rehabilitation research.