Case-control Comparison Research Articles

Dental anomalies in cleft lip and palate: A case-control comparison of total and outside the cleft prevalence.

This study’s objective was to compare the total and outside the cleft prevalence of dental anomalies (DA) between patients with cleft lip and palate (CLP) and a control group. This retrospective cross-sectional study was done under a case–control design. The case group consisted of 192 non-syndromic patients with complete CLP, while the control group included 411 patients. All subjects had orthopantomography, intra, and extraoral photographs. The prevalence of dental agenesis, supernumerary teeth, impacted teeth, dental transposition, and microdontia were compared using a chi-squared test (P < .05). Next, a second test was made, but only the anomalies outside the cleft were considered for this study. Total prevalence was 89.1% for cases, and 20.9% for controls (P < .01). The prevalence of each DA was significantly higher for the case group. In the analysis of DAs outside the cleft, the total prevalence was still significantly associated (P < .01); however, only dental agenesis was statistically significant (P < .01). Further analysis found that a high rate of upper premolar absence (P < .01) could explain this event. Patients with CLP have a higher prevalence of DAs compared to controls. After considering only the DAs outside the cleft, the total prevalence remains significantly higher. However, this phenomenon is explained mainly by the elevated prevalence of upper premolars’ agenesis. This study’s results suggest that environmental factors are behind the high prevalence of DAs in subjects with CLP.

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study

The spectrum of non-motor symptoms in dystonia remains unclear. Using UK Biobank data, we analysed clinical phenotypic and genetic information in the largest dystonia cohort reported to date. Case–control comparison of dystonia and matched control cohort was undertaken to identify domains (psychiatric, pain, sleep and cognition) of increased symptom burden in dystonia. Whole exome data were used to determine the rate and likely pathogenicity of variants in Mendelian inherited dystonia causing genes and linked to clinical data. Within the dystonia cohort, phenotypic and genetic single-nucleotide polymorphism (SNP) data were combined in a mixed model analysis to derive genetically informed phenotypic axes. A total of 1572 individuals with dystonia were identified, including cervical dystonia (n = 775), blepharospasm (n = 131), tremor (n = 488) and dystonia, unspecified (n = 154) groups. Phenotypic patterns highlighted a predominance of psychiatric symptoms (anxiety and depression), excess pain and sleep disturbance. Cognitive impairment was limited to prospective memory and fluid intelligence. Whole exome sequencing identified 798 loss of function variants in dystonia-linked genes, 67 missense variants (MPC > 3) and 305 other forms of non-synonymous variants (including inframe deletion, inframe insertion, stop loss and start loss variants). A single loss of function variant (ANO3) was identified in the dystonia cohort. Combined SNP and clinical data identified multiple genetically informed phenotypic axes with predominance of psychiatric, pain and sleep non-motor domains. An excess of psychiatric, pain and sleep symptoms were evident across all forms of dystonia. Combination with genetic data highlights phenotypic subgroups consistent with the heterogeneity observed in clinical practice.

Understanding the nature of face processing in early autism: A prospective study.

Dimensional approaches to psychopathology interrogate the core neurocognitive domains interacting at the individual level to shape diagnostic symptoms. Embedding this approach in prospective longitudinal studies could transform our understanding of the mechanisms underlying neurodevelopmental disorders. Such designs require us to move beyond traditional group comparisons and determine which domain-specific alterations apply at the level of the individual, and whether they vary across distinct phenotypic subgroups. As a proof of principle, this study examines how the domain of face processing contributes to the emergence of autism spectrum disorder (ASD). We used an event-related potentials (ERPs) task in a cohort of 8-month-old infants with (n = 148) and without (n = 68) an older sibling with ASD, and combined traditional case-control comparisons with machine-learning techniques for prediction of social traits and ASD diagnosis at 36 months, and Bayesian hierarchical clustering for stratification into subgroups. A broad profile of alterations in the time-course of neural processing of faces in infancy was predictive of later ASD, with a strong convergence in ERP features predicting social traits and diagnosis. We identified two main subgroups in ASD, defined by distinct patterns of neural responses to faces, which differed on later sensory sensitivity. Taken together, our findings suggest that individual differences between infants contribute to the diffuse pattern of alterations predictive of ASD in the first year of life. Moving from group-level comparisons to pattern recognition and stratification can help to understand and reduce heterogeneity in clinical cohorts, and improve our understanding of the mechanisms that lead to later neurodevelopmental outcomes.

Knowledge, Community Behavior About Basic Sanitation, And The Event Of Diarrhea In Sebatung Community Health Centers, Kotabaru Regency

The prevalence rate of diarrhea in Kotabaru Regency is 8.57%, which is the second highest number of cases after Hulu Sungai Utara. Data on diarrhea cases from the Kotabaru District Health Office stated that the Puskesmas with the highest number was the Sebatung Health Center. The purpose of this study was to determine the relationship between the knowledge and behavior of the community about basic sanitation and the incidence of diarrhea in the working area of ​​the Sebatung Health Center, Kotabaru Regency. The study analysis design used a case-control study method with a 1:2 case-control comparison. Data analysis using the chi-square test. The results showed that the level of community knowledge was 70% in the good category and 30% in the poor category, and the behavior of the community was 70% in the good category and 30% in the bad category. The results of statistical tests showed that knowledge (p value 0.000 &lt; 0.05) was associated with the incidence of diarrhea, and behavior (p value 0.000 &lt; 0.05) was associated with the incidence of diarrhea. It is hoped that it will increase knowledge and behavior about basic sanitation.

Greater individual variability in functional brain activity during working memory performance in Schizophrenia Spectrum Disorders (SSD)

Heterogeneity has been a persistent challenge in understanding Schizophrenia Spectrum Disorders (SSD). Traditional case-control comparisons often show variable results, and may not map well onto individuals. To better understand heterogeneity and group differences in SSD compared to typically developing controls (TDC), we examined variability in functional brain activity during a working memory (WM) task with known deficits in SSD. Neuroimaging and behavioural data were extracted from two datasets collectively providing 34 TDC and 56 individuals with SSD (n = 90). Functional activity in response to an N-Back WM task (3-Back vs 1-Back) was examined between and within groups. Individual variability was calculated via the correlational distance of fMRI activity maps between participants; mean correlational distance from one participant to all others was defined as a ‘variability score’. Greater individual variability in functional activity was found in SSD compared to TDC (p = 0.00090). At the group level, a case-control comparison suggested SSD had reduced activity in task positive and task negative networks. However, when SSD were divided into high and low variability subgroups, the low variability groups showed no differences relative to TDC while the high variability group showed little activity at the group level. Our results imply prior case-control differences may be driven by a subgroup of SSD who do not show specific impairments but instead show more ‘idiosyncratic’ activity patterns. In SSD but not TDC, variability was also related to cognitive performance and age. This novel approach focusing on individual variability has important implications for understanding the neurobiology of SSD.

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Simple SummaryThe aim of this study was to identify the germline genetic variants associated with an increased risk of developing nasopharyngeal carcinoma (NPC). DNA samples from 119 Singaporean NPC patients were sequenced, with 17 pathogenic variants in 17 genes found to be enriched in NPC patients as compared to unaffected controls. Five of these variants (in the JAK2, PRDM16, LRP1B, NIN, and NKX2-1 genes) were supported by repeated testing on an independent set of Singaporean NPC patients and unaffected Singaporean controls. A FANCE variant was observed in two siblings with NPC, but not in three unaffected siblings of the same family. Gene-based burden testing recapitulated the association between NKX2-1 and FANCE variants with NPC risk. Pathway analysis revealed a higher frequency of germline mutations in endocytosis and immune-modulating pathways. Our research has identified new variants and genes associated with susceptibility to NPC, which are relevant for an improved understanding of the genetic predisposition of NPC.The current understanding of genetic susceptibility factors for nasopharyngeal carcinoma (NPC) is still incomplete. To identify novel germline variants associated with NPC predisposition, we analysed whole-exome sequencing data from 119 NPC patients from Singapore with a family history of NPC and/or with early-onset NPC, together with 1337 Singaporean participants without NPC. Variants were prioritised and filtered by selecting variants with minor allele frequencies of <1% in both local control (n = 1337) and gnomAD non-cancer (EAS) (n = 9626) cohorts and a high pathogenicity prediction (CADD score > 20). Using single-variant testing, we identified 17 rare pathogenic variants in 17 genes that were associated with NPC. Consistent evidence of enrichment in NPC patients was observed for five of these variants (in JAK2, PRDM16, LRP1B, NIN, and NKX2-1) from an independent case-control comparison of 156 NPC patients and 9770 unaffected individuals. In a family with five siblings, a FANCE variant (p. P445S) was detected in two affected members, but not in three unaffected members. Gene-based burden testing recapitulated variants in NKX2-1 and FANCE as being associated with NPC risk. Using pathway analysis, endocytosis and immune-modulating pathways were found to be enriched for mutation burden. This study has identified NPC-predisposing variants and genes which could shed new insights into the genetic predisposition of NPC.

Automatic method for individual parcellation of manganese-enhanced magnetic resonance imaging of rat brain.

AimsTo construct an automatic method for individual parcellation of manganese-enhanced magnetic resonance imaging (MEMRI) of rat brain with high accuracy, which could preserve the inherent voxel intensity and Regions of interest (ROI) morphological characteristics simultaneously.Methods and resultsThe transformation relationship from standardized space to individual space was obtained by firstly normalizing individual image to the Paxinos space and then inversely transformed. On the other hand, all the regions defined in the atlas image were separated and resaved as binary mask images. Then, transforming the mask images into individual space via the inverse transformations and reslicing using the 4th B-spline interpolation algorithm. The boundary of these transformed regions was further refined by image erosion and expansion operator, and finally combined together to generate the individual parcellations. Moreover, two groups of MEMRI images were used for evaluation. We found that the individual parcellations were satisfied, and the inherent image intensity was preserved. The statistical significance of case-control comparisons was further optimized.ConclusionsWe have constructed a new automatic method for individual parcellation of rat brain MEMRI images, which could preserve the inherent voxel intensity and further be beneficial in case-control statistical analyses. This method could also be extended to other imaging modalities, even other experiments species. It would facilitate the accuracy and significance of ROI-based imaging analyses.

Clinical utility of Phototest via teleneuropsychology in Chilean rural older adults.

This study aimed to analyze the clinical utility of the Phototest, through telemedicine, to identify mild cognitive impairment in rural older adults with memory complaints, during the COVID-19 pandemic. We performed a cross-sectional, case-control, and clinical utility comparison of brief cognitive tests (BCTs). The sample included 111 rural elderly people with mild cognitive impairment (MCI) and 130 healthy controls from the Los Lagos region, Chile. The instruments adopted were modified Mini-Mental State Examination (MMSEm) and adapted version of the Phototest (PT) for Chile. To identify mild cognitive impairment, using a cutoff score of 27-28 points, the Phototest showed a sensitivity of 96.6% and a specificity of 81.8%; indicators superior to those of the MMSEm. The Phototest is more accurate than the MMSEm in identifying cognitive alterations in rural older adults with cognitive memory complaints through telemedicine. Therefore, its use in primary care is recommended in order to perform early detection of preclinical cognitive alterations in mild cognitive impairment or neurodegenerative diseases.

The normative modeling framework for computational psychiatry.

Normative modeling is an emerging and innovative framework for mapping individual differences at the level of a single subject or observation in relation to a reference model. It involves charting centiles of variation across a population in terms of mappings between biology and behavior, which can then be used to make statistical inferences at the level of the individual. The fields of computational psychiatry and clinical neuroscience have been slow to transition away from patient versus 'healthy' control analytic approaches, probably owing to a lack of tools designed to properly model biological heterogeneity of mental disorders. Normative modeling provides a solution to address this issue and moves analysis away from case-control comparisons that rely on potentially noisy clinical labels. Here we define a standardized protocol to guide users through, from start to finish, normative modeling analysis using the Predictive Clinical Neuroscience toolkit (PCNtoolkit). We describe the input data selection process, provide intuition behind the various modeling choices and conclude by demonstrating several examples of downstream analyses that the normative model may facilitate, such as stratification of high-risk individuals, subtyping and behavioral predictive modeling. The protocol takes ~1-3 h to complete.

Brain Structure in Acutely Underweight and Partially Weight-Restored Individuals With Anorexia Nervosa: A Coordinated Analysis by the ENIGMA Eating Disorders Working Group

BackgroundThe pattern of structural brain abnormalities in anorexia nervosa (AN) is still not well understood. While several studies report substantial deficits in gray matter volume and cortical thickness in acutely underweight patients, others find no differences, or even increases in patients compared with healthy control subjects. Recent weight regain before scanning may explain some of this heterogeneity. To clarify the extent, magnitude, and dependencies of gray matter changes in AN, we conducted a prospective, coordinated meta-analysis of multicenter neuroimaging data. MethodsWe analyzed T1-weighted structural magnetic resonance imaging scans assessed with standardized methods from 685 female patients with AN and 963 female healthy control subjects across 22 sites worldwide. In addition to a case-control comparison, we conducted a 3-group analysis comparing healthy control subjects with acutely underweight AN patients (n = 466) and partially weight-restored patients in treatment (n = 251). ResultsIn AN, reductions in cortical thickness, subcortical volumes, and, to a lesser extent, cortical surface area were sizable (Cohen’s d up to 0.95), widespread, and colocalized with hub regions. Highlighting the effects of undernutrition, these deficits were associated with lower body mass index in the AN sample and were less pronounced in partially weight-restored patients. ConclusionsThe effect sizes observed for cortical thickness deficits in acute AN are the largest of any psychiatric disorder investigated in the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis) Consortium to date. These results confirm the importance of considering weight loss and renutrition in biomedical research on AN and underscore the importance of treatment engagement to prevent potentially long-lasting structural brain changes in this population.

Anatomic Factors Contributing to External Iliac Artery Endofibrosis in High-Performance Athletes

External iliac artery endofibrosis (EIAE) classically presents in cyclists with intimal thickening of the affected arteries. We investigated possible anatomical predisposing factors including psoas muscle hypertrophy, arterial tortuosity, inguinal ligament compression, and arterial kinking via a case-control comparison of symptomatic and contralateral limbs. All patients with unilateral EIAE treated surgically at our institution were reviewed. Each patient's symptomatic side was compared with their contralateral side using paired t-tests. Psoas hypertrophy was quantified by the transverse cross-sectional area (CSA) at L4, L5, and S1 vertebral levels, and inguinal ligament compression was measured as the anterior-posterior distance between the inguinal ligament and underlying bone. Tortuosity index for diseased segments and arterial kinking were measured on TeraRecon. Of 33 patients operated on for EIAE from 2004 to 2021, 27 with available imaging presented with unilateral disease, more commonly left-sided (63%). Most (96%) had external iliac involvement and 26% had ≥2 segments affected: 19% common iliac artery, 15% common femoral artery. The symptomatic limb had greater mean L5 psoas CSA (1,450mm2 vs. 1,396mm2, mean difference 54mm2, P=0.039). There were no significant differences in L4 or S1 psoas hypertrophy, tortuosity, inguinal ligament compression, or arterial kinking. 63% underwent patch angioplasty, and 85% underwent additional inguinal ligament release. 84% reported postoperative satisfaction, which was associated with a greater difference in psoas hypertrophy at L4 (P=0.022). Psoas muscle hypertrophy is most pronounced at L5 and is associated with symptomatic EIAE. Preferential hypertrophy of the affected side correlates with improved outcomes, suggesting psoas muscle hypertrophy as a marker of disease severity.

Concomitant Glenohumeral Instability and Rotator Cuff Injury: An Epidemiologic and Case-Control Analysis in Military Cadets.

Concomitant rotator cuff tear and glenohumeral instability in a large cohort of young and active patients has not been examined. The purpose of this study was to investigate the incidence, associated variables, and outcomes in military cadets undergoing shoulder stabilization procedures with these concomitant pathologies. A retrospective cohort study of a consecutive series of collegiate patients who underwent shoulder stabilization from 2014 to 2018 at a single service academy was conducted. Exclusion criteria were noncadets, revision instability cases, multidirectional instability, and prior rotator cuff repair. A nested case-control analysis was done in a matched series of patients with and without MRI evidence of rotator cuff tear. Baseline demographics, VAS pain scale, physical therapy duration, and time to surgery were analyzed. Postoperative metrics included rate of recurrent instability, subjective outcomes, VAS pain scale, and military-specific criteria. Three hundred twenty-four cadets met the inclusion criteria, including 272 men and 52 women averaging 20.53 ± 1.80 years of age. MRI demonstrated concomitant rotator cuff tears in 5.56% of cases. A matched case-control comparison between patients with (rotator cuff tear group) and without (no rotator cuff tear group) rotator cuff tear showed no differences in preoperative data, recurrent instability rate, or postoperative VAS pain scores (0.24 versus 0.88, P = 0.207) at mean 44-month follow-up. Fifteen of 17 patients (88.2%) in each group returned to full activity (P > 0.999). No patients failed to graduate due to shoulder concerns. No patients in the rotator cuff tear group underwent a medical board for separation from the military compared with 2 (11.8%) in the no rotator cuff tear group (P = 0.163). The incidence of concomitant rotator cuff tears in this study of military cadets undergoing shoulder stabilization was 5.56%. In a matched cohort comparison, the presence of a rotator cuff tear on preoperative MRI was not associated with inferior clinical outcomes.

Professional practice for COVID-19 risk reduction among health care workers: A cross-sectional study with matched case-control comparison

Health care workers (HCWs) are particularly exposed to COVID-19 and therefore it is important to study preventive measures in this population. To investigate socio-demographic factors and professional practice associated with the risk of COVID-19 among HCWs in health establishments in Normandy, France. A cross-sectional and 3 case-control studies using bootstrap methods were conducted in order to explore the possible risk factors that lead to SARS-CoV2 transmission within HCWs. Case-control studies focused on risk factors associated with (a) care of COVID-19 patients, (b) care of non COVID-19 patients and (c) contacts between colleagues. 2,058 respondents, respectively 1,363 (66.2%) and 695 (33.8%) in medical and medico-social establishments, including HCW with and without contact with patients. 301 participants (14.6%) reported having been infected by SARS-CoV2. When caring for COVID-19 patients, HCWs who declared wearing respirators, either for all patient care (ORa 0.39; 95% CI: 0.29-0.51) or only when exposed to aerosol-generating procedures (ORa 0.56; 95% CI: 0.43-0.70), had a lower risk of infection compared with HCWs who declared wearing mainly surgical masks. During care of non COVID-19 patients, wearing mainly a respirator was associated with a higher risk of infection (ORa 1.84; 95% CI: 1.06-3.37). An increased risk was also found for HCWs who changed uniform in workplace changing rooms (ORa 1.93; 95% CI: 1.63-2.29). Correct use of PPE adapted to the situation and risk level is essential in protecting HCWs against infection.

Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study

PurposeEndometrial carcinoma is the second most common gynecological malignancy. Until today lacking a screening tool. A blood-based biomarker could help address this need.MethodsThe expression levels of 30 acylcarnitines, 18 amino acids, 6 miRNAs, and 7 DNA methylation sites were measured in blood samples from 331 women (20 EC, 14 benign uterine lesions (benign), 140 breast cancers (BC), 157 controls). Areas under the ROC curves (AUC), sensitivity (sens.) and specificity (spec.) were computed to identify the variables best distinguishing.ResultsThe best top ten markers for the four comparisons (cancer vs. cancer-free; EC vs. BC, EC vs. controls; EC vs. benign), were identified via AUC. Malonylcarnitine distinguished best patients with EC from controls (AUC: 0.827, sens. 80%, spec. 73.1%) or BC (AUC: 0.819, sens. 84.3%, spec. 80%) being most notable. Tryptophan best differentiated benign from EC (AUC: 0.846, sens. 70%, spec. 92.9%).ConclusionsThe levels of the analyzed blood markers yielded promising results in the detection of EC and warrant further evaluation.

Natural History and Surgical Timing for Idiopathic Epiretinal Membrane

This study assessed the prevalence of progression to surgery on idiopathic epiretinal membrane (iERM) and compared the results with those of immediate surgery. Retrospective study with nested case-control comparison. Patients with mild iERM at initial presentation METHODS: A retrospective study with a nested case-control study was conducted to compare the outcomes of those who later progressed to surgery ("deferred surgery") with those of a control group that underwent surgery within 6 months of initial presentation ("immediate surgery"). The prevalence of performing vitrectomy with membrane peeling after initial deferral, features associated with deferred surgery, and the visual acuity (VA) outcomes of surgery compared with those with immediate surgery. A total of 413 patients were included in the base study cohort: 369 did not undergo iERM peeling, whereas 44 (10.7%) underwent deferred surgery at a mean duration of 18.1 months after initial presentation. The factor most associated with later progression to surgery, determined using a multivariate analysis, was symptoms at initial presentation (odds ratio [95% confidence interval], 8.75 [3.80-20.15]; P < 0.0001). The immediate surgical group (controls) had a poorer logarithm of the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) at presentation compared with the deferred surgery group (cases), but this decreased in the latter group to about the same preoperative level immediately before the deferred surgery (typically why they underwent surgery). The final logMAR BCVA was similar in the deferred and immediate surgical groups when only pseudophakic cases were analyzed. An analysis of the change from preoperative BCVA (instead of initial) to final BCVA showed no difference in the magnitude of change between the pseudophakic subgroups of the deferred and immediate surgery groups (median [interquartile range] preoperative VA of 0.52 [0.40-0.60] in the deferred surgery group and 0.44 [0.39-0.60] in the immediate surgery group [P= 0.7256]). Within the deferred and immediate surgery groups, the median change from preoperative BCVA to final BCVA in the pseudophakic subgroups was 0.22 (P= 0.0082) in the former and 0.21 (P= 0.0001) in the latter. The vast majority of eyes with iERM remain stable after initial presentation. The deferral of surgery in the minority of patients who progress does not have a disadvantageous final outcome compared with immediate surgery.

Thickness of the Subcutaneous Fat as a Risk Factor for Surgical Site Infection Following Fragility Hip Fracture Surgery.

IntroductionSurgical site infection (SSI) following fragility hip fracture (FHF) surgery is associated with increased morbidity and mortality.SignificancePrediction of patients at risk for SSI is fundamental. We aimed to determine whether subcutaneous radiographic fat measurement (SRM) is associated with increased SSI risk.MethodsA retrospective case-control comparison of SRMs at 3 locations around the hip. Patients diagnosed with SSI in the first post-operative year were matched with age, gender, surgical year, Charlsons’ co-morbidity index score, and surgical type controls, not diagnosed with SSI, at a 1:2 ratio. Measurements included the distance between (1) the sourcil to skin surface (SS), (2) the tip of the greater trochanter to skin surface (TGTS), and (3) the most prominent lateral aspect of the greater trochanter to skin surface.Results1430 patients were operated during the study period, of whom 45 patients presented with a diagnosis of SSI and compared to 90 controls. Infections occurred 27.4 ( ± 24.8) days following surgery. SRM significantly differed between groups, and all were higher in the study group; SS, 86.8 ± 25.5 cm vs 74.2 ± 15.3 cm; TGTS, 59.8 ± 26.3 cm vs 47.0 ± 15.8 cm; and LGTS, 45.4 ± 25.1 cm vs 33.2 ± 15.1 cm (P = .003, .004, and .004, respectively). Intraclass correlation coefficients (intra-rater) were high for all measurements (.999 for all). Intraclass correlation coefficients (inter-rater) for SS, TGTS and LGTS were high, .749 (.663.815), .792 (.719.847) and .817 (.751.866), respectively.ConclusionsSRMs were found to be a valid and reproducible tool for predicting high risk of SSI in geriatric patients sustaining FHFs.Level of EvidenceIII.

The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison.

Autism spectrum disorder (ASD) and generalised joint hypermobility (GJH) share a number of clinical manifestations including proprioceptive impairment, motor difficulties, sensory hypersensitivity, and autonomic dysfunction. Clinical observations suggest that GJH is overrepresented in ASD. However, there are currently few systematic studies available. Knowledge about comorbidities may unfold common aetiopathological pathways underlying the association and improve the clinical management. The aim of this large, cross-sectional comparative study is to evaluate the relationship between ASD and GJH in adults. Data on joint hypermobility, symptoms associated with both hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS), lifetime psychiatric diagnoses, psychiatric rating scales for ASD and attention deficit hyperactivity disorder (ADHD), and socio-demographics was collected for 199 individuals with ASD and 419 non-ASD community controls. Logistic regression models adjusting for covariates (age, sex, ethnicity) revealed a significant relationship between ASD and GJH and between ASD and symptomatic GJH, with adjusted odds ratios of 3.1 (95% CI: 1.9, 5.2; p < 0.001) and 4.9 (95% CI: 2.6, 9.0; p < 0.001), respectively. However, the high prevalence of comorbid ADHD in the study sample reduces the generalizability of the results among individuals with ASD without comorbid ADHD. Possibly, an additional ADHD phenotype is the primary driver of the association between ASD and GJH. Furthermore, GJH with additional self-reported symptoms, suggestive of HSD/hEDS, showed a stronger association with ASD than did non-specified GJH, indicating that symptomatic GJH plays a greater role in the relationship than non-specified GJH does. Therefore, the current study underscores the need of careful sample subclassifications. ASD with GJH may represent a novel subgroup of ASD in terms of aetiopathology and clinical presentation. Future research should elucidate the aetiological factors behind the association between ASD and GJH and evaluate how the comorbidity of GJH affects ASD outcomes.

Risk factors and oral health-related quality of life: A case-control comparison between patients after a first-episode psychosis and people from general population.

Accessible summaryWhat is known on the subject? Oral health consists of more than having good teeth; it is an important factor in general health and well‐being. Despite its importance, oral health care is still largely overlooked in mental health nursing.There is no research available about oral health risk factors and OHRQoL in patients diagnosed with a psychotic disorder with a psychotic disorder (first‐episode). What does this paper add to existing knowledge? This study provides insight into the severity of the problem. It demonstrates the differences in risk factors and OHRQoL between patients diagnosed with a psychotic disorder (first‐episode) and the general population.A negative impact on OHRQoL is more prevalent in patients diagnosed with a psychotic disorder (first‐episode) (14.8%) compared to the general population (1.8%).Patients diagnosed with a psychotic disorder (first‐episode) have a considerable increase in odds for low OHRQoL compared to the general population, as demonstrated by the odds ratio of 9.45, which supports the importance of preventive oral health interventions in this group. What are the implications for practice? The findings highlight the need for oral health interventions in patients diagnosed with a psychotic disorder (first‐episode). Mental health nurses, as one of the main health professionals supporting the health of patients diagnosed with a mental health disorder, can support oral health (e.g. assess oral health in somatic screening, motivate patients, provide oral health education to increase awareness of risk factors, integration of oral healthcare services) all in order to improve the OHRQoL. IntroductionNo research is available about the oral health risk factors and oral health‐related quality of life (OHRQoL) in patients diagnosed with a psychotic disorder.AimTo compare oral health risk factors and OHRQoL in patients diagnosed with a psychotic disorder (first‐episode) to people with no history of psychotic disorder.MethodA case–control comparison (1:2) multivariable linear regression analysis and an estimation of prevalence of impact on OHRQoL.ResultsPatients diagnosed with a psychotic disorder (first‐episode) have lower OHRQoL with more associated risk factors. Of the patients diagnosed with a psychotic disorder (first‐episode), 14.8% reported a negative impact on OHRQoL, higher than the prevalence of 1.8% found in people from the general population.DiscussionThe high prevalence rate of a negative impact on OHRQoL in patients diagnosed with a psychotic disorder (first‐episode) shows the importance of acting at an early stage to prevent a worse outcome.Implications for practiceThe findings highlight the need for oral health interventions in patients diagnosed with a psychotic disorder (first‐episode). Mental health nurses, as one of the main health professionals supporting the health of patients diagnosed with a mental health disorder, can support oral health (e.g. assess oral health in somatic screening) in order to improve the OHRQoL.

Anatomic Factors Contributing To External Iliac Artery Endofibrosis In High Performance Athletes

INTRODUCTION AND OBJECTIVES External iliac artery endofibrosis (EIAE) classically presents in cyclists with intimal thickening of the affected arteries. We sought to determine possible anatomical predisposing factors including psoas muscle hypertrophy, increased iliac tortuosity, and inguinal ligament arterial fixation/compression via case-control comparison of affected and unaffected limbs. METHODS All patients with unilateral EIAE treated surgically at our institution were reviewed. Each patient's unaffected side was compared with the affected side using paired t-tests. Psoas hypertrophy was quantified by transverse cross-sectional area (CSA) at L4, L5, and S1 levels. Inguinal ligament compression and tortuosity index for diseased segments were measured on TeraRecon (Fig 1). RESULTS CONCLUSIONS Graphical Abstract View Large Image Figure Viewer Download Hi-res image External iliac artery endofibrosis (EIAE) classically presents in cyclists with intimal thickening of the affected arteries. We sought to determine possible anatomical predisposing factors including psoas muscle hypertrophy, increased iliac tortuosity, and inguinal ligament arterial fixation/compression via case-control comparison of affected and unaffected limbs. All patients with unilateral EIAE treated surgically at our institution were reviewed. Each patient's unaffected side was compared with the affected side using paired t-tests. Psoas hypertrophy was quantified by transverse cross-sectional area (CSA) at L4, L5, and S1 levels. Inguinal ligament compression and tortuosity index for diseased segments were measured on TeraRecon (Fig 1).

Peripheral reaching in Alzheimer's disease and mild cognitive impairment

Recent evidence has implicated areas within the posterior parietal cortex (PPC) as among the first to show pathophysiological changes in Alzheimer's disease (AD). Focal brain damage to the PPC can cause optic ataxia, a specific deficit in reaching to peripheral targets. The present study describes a novel investigation of peripheral reaching ability in AD and mild cognitive impairment (MCI), to assess whether this deficit is common among these patient groups. Individuals with a diagnosis of mild-to-moderate AD, or MCI, and healthy older adult controls were required to reach to targets presented in central vision or in peripheral vision using two reaching tasks; one in the lateral plane and another presented in radial depth. Pre-registered case–control comparisons identified 1/10 MCI and 3/17 AD patients with significant peripheral reaching deficits at the individual level, but group-level comparisons did not find significantly higher peripheral reaching error in either AD or MCI by comparison to controls. Exploratory analyses showed significantly increased reach duration in both AD and MCI groups relative to controls, accounted for by an extended Deceleration Time of the reach movement. These findings suggest that peripheral reaching deficits like those observed in optic ataxia are not a common feature of AD. However, we show that cognitive decline is associated with a generalised slowing of movement which may indicate a visuomotor deficit in reach planning or online guidance.