Significant Association Of Age Research Articles

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.

The purpose of this study was to assess the natural history of the foveal cone mosaic in CNGA3-associated achromatopsia (ACHM). Thirteen eyes from 10 genetically confirmed patients underwent longitudinal imaging with optical coherence tomography (OCT) and non-confocal split detection adaptive optics scanning light ophthalmoscopy (AOSLO). OCT scans assessed outer nuclear layer (ONL) thickness, foveal ellipsoid zone (EZ) disruption, and foveal hypoplasia. AOSLO images were analyzed to calculate peak foveal cone density (PCD) and mean inter-cell distance (ICD) between cones. Mixed effects models were used to analyze the rate of annual change of PCD and ICD. Mean (±SD) age at visits was 29 ± 10 years, with a follow-up of 2.6 ± 1 years. There was no change in ONL thickness, degree of EZ disruption, or foveal hypoplasia over the follow-up period. We also observed a stable foveal cone mosaic using AOSLO imaging, with no significant change in PCD or ICD. Mean PCD was 15,346 cones/mm² at the mean age of 29 years old (cf. 64,000-324,000 cones/mm² in previously reported healthy controls), with a mean rate of change of -117.79 cones/mm² (0.8%) per year, P = 0.130. Mean ICD at the mean age was 13.82 µm, with a rate of change of 0.17 µm per year, P = 0.83. CNGA3-associated ACHM displays stable foveal cone structure over time with a similar rate of change to CNGB3-associated ACHM (2% decline per year). The stable PCD, small cohort, and large variability within the cohort means significant age associations were not detected.

Use of complementary and alternative medicine in patients with chronic liver diseases in Germany- a multicentric observational study

BackgroundThe use of Complementary and alternative medicine (CAM) in chronic liver disease (CLD) patients in Germany is unknown. This study investigated the frequency of CAM use and associated sociodemographic, clinical and personality factors in CLD patients in Germany.MethodsThis is a cross-sectional multicenter study of CLD patients attending liver outpatient clinics of university hospitals in Halle(-Saale) and Homburg between 2015 and 2017. Dedicated questionnaires recorded CAM use, sociodemographic and personality factors (evaluated with the “Big five” model, “Hospital Anxiety and Depression”-, “Multidimensional Health Locus of Control”- score). Uni- and multivariate analyses assessed factors associated to CAM use.ResultsOverall 378 patients were recruited, 92 (24.3%) reported to CAM use. On univariate analysis, female CAM users were older (p = 0.001) and more physically active (p = 0.002), male CAM users more often used homeopathy (p = 0.000), actively promoted their health (p = 0.010) or had UDC in their medication (p = 0.004). Logistic regression analysis adjusted for personality factors showed significant association of age, physical exercise (females) and satisfaction with alternative medicine (females, males) to CAM use.ConclusionsCAM use is prevalent among CLD patients in Germany and is significantly associated to satisfaction with alternative medicine (females, males), physical exercise and older age (females). Doctors should actively inquire CLD patients about CAM use, as hepatotoxicity or interaction with medication can occur.

Factors associated with tuberculosis among PLHIV: An observational study in a Government Medical College in West Bengal, India

BackgroundTuberculosis (TB) is one of the leading causes of significant morbidity and mortality among the People Living with Human Immune-deficiency Virus (PLHIV) in India. Reducing TB burden among PLHIV is a priority area under the National TB Elimination Program (NTEP). MethodologyWe analyzed the routinely collected data from an Anti-Retro-viral Treatment Centre (ARTC) of Malda Medical College, West Bengal with an aim of identifying the factors associated with TB prevalence among the PLHIV. All 739 PLHIV who attended the ARTC during 2020–2022, were included in this study. ResultsMean age of the study participants was 34 years (SD:13). 47.9 % PLHIV received Co-trimoxazole Prophylaxis Treatment (CPT) whereas 67.7 % PLHIV received TB preventive treatment (TPT). Transgender [2.9 (1.4–6)], Males [3.7 (1.8–7.9)], Widow/Separated [2.5 (1.2–5.4)], Living with 2–4 Family members [1.6 (1–2.7)], CD4 count less than 200 [1.9 (1.1–3.2)], those who received CPT [17 (7.1–40.8)] and those who didn't receive TPT [1.6 (1–2.6)] were independently associated with increased risk of developing TB. There was no significant association of Age with TB diagnosis among the PLHIV. ConclusionsIt is evident from this study, that introduction of TPT and improving CD4 count by Anti-retroviral Treatment is the key intervention to reduce TB burden among PLHIV. The study found significant association of CPT with TB. Further study may be conducted to determine the actual reason for such association.

Prevalence of Periodontal Disease Among Undergraduate Students In AL-Qadisiyah Governorate, Iraq: A Cross-Sectional Study

Periodontal disease, which involves gingivitis and periodontitis, is a common oral infection that affects the tissues that surround and support the teeth. Previously there were no epidemiological studies to assess the prevalence of periodontal disease in Al-Qadisiyah governorate generally and Al-Qadisiyah colleges and institute specifically. Therefore, an epidemiological study to determine the prevalence of periodontal diseases is essentially needed. To assess the prevalence of periodontal disease for the final year undergraduate students at all colleges and institute in Al-Qadisiyah governorate, Iraq and investigate the effect of age, gender, socioeconomic status, marital status and lifestyle factors on periodontal health status. A cross-sectional study was performed in AL-Qadisiyah colleges and institute. A total of 800 last stages students were examined using the community periodontal index for treatment needs and chosen randomly through stratified random sampling. A questionnaire was used to record information about socioeconomic status, marital status, and lifestyle, and correlated with periodontal health status. The overall prevalence rate of periodontal disease for the final year of undergraduate students in Al-Qadisiyah colleges and institute was 84.6%. Bleeding code 1 and calculus code 2 recorded approximately similar percentages (31.5%) and (31.4) respectively and only 15.4 % of students had healthy periodontium, while the percentage of shallow and deep pockets recorded 18.4 % and 3.4% respectively. Community periodontal index for treatment needs varied non-significantly among marital status in which single students had healthier periodontium (16.5%) compared to married. The statistical analysis also showed that students with very good socioeconomic status and good lifestyle had the highest percentages of healthy periodontium (50%), (22.6%) respectively. The present study shows a higher prevalence rate of bleeding and calculus among final year of undergraduate students in Al–Qadisiyah colleges and institute with a lack of knowledge about periodontal health status. Hence, there are significant associations of age, gender, marital status, socioeconomic status, and lifestyle with periodontal health conditions, also the results indicated that the majority of the students need preventive programs to reduce PDs initiation or progression.

A Prospective Study of Dry Eye Syndrome among Patients with Type 2 Diabetes Mellitus

Introduction: Diabetes is one of the leading health related catastrophes the world has ever witnessed. It affects millions of people all over the world. The reduced corneal sensitivity favors the occurrence of dry eye syndrome (DES) by reducing the blink rate, by decreasing the reflex-induced lacrimal secretion and increasing evaporative tear loss. It affects millions of people all over the world. Objective: Assessment of incidence of dry eyes in type 2 diabetic patients. Methods: A prospective study was carried out to assess the presence of dry eyes and to investigate the relationship of retinopathy with dry eyes. After applying inclusion and exclusion criteria 50 diabetic patients who attended the out-patient department of the Department of Ophthalmology, Ad-din Akij Medical College, Khulna, Bangladesh from July to December 2023. After applying inclusion and exclusion criteria 50 diabetic patients who attended the out-patient department of the Department of Ophthalmology, were selected. Results: Out of 50 Diabetic patients, 29 had dry eyes. Mild form of dry eyes was most common (20%). Majority of the patients were between the ages of 40-60 years. There was no significant association of age, sex and duration of diabetes with incidence of dry eyes. Mild form of dry eyes was most common (20%). There was no significant association of age, sex and duration of diabetes with incidence of dry eyes. Abnormal tear break up time was abnormal in 32%. Abnormal Fluorescein staining was seen in 20% study subjects. Moderate non-proliferative diabetic retinopathy was significantly more common in diabetic patients with dry eyes. Conclusion: Examination of dry eyes should be an integral part of the assessment of diabetic eye disease so as to improve the patients comfort and to prevent or minimize further structural damage to the ocular surface.

T2DM/CKD genetic risk scores and the progression of diabetic kidney disease in T2DM subjects

This study aimed at understanding the predictive potential of genetic risk scores (GRS) for diabetic kidney disease (DKD) progression in patients with type 2 diabetes mellitus (T2DM) and Major Cardiovascular Events (MCVE) and All-Cause Mortality (ACM) as secondary outcomes. We evaluated 30 T2DM and CKD GWAS-derived single nucleotide polymorphisms (SNPs) and their association with clinical outcomes in a central European cohort (n = 400 patients). Our univariate Cox analysis revealed significant associations of age, duration of diabetes, diastolic blood pressure, total cholesterol and eGFR with progression of DKD (all P < 0.05). However, no single SNP was conclusively associated with progression to DKD, with only CERS2 and SHROOM3 approaching statistical significance. While a single SNP was associated with MCVE − WSF1 (P = 0.029), several variants were associated with ACM − specifically CANCAS1, CERS2 and C9 (all P < 0.02). Our GRS did not outperform classical clinical factors in predicting progression to DKD, MCVE or ACM. More precisely, we observed an increase only in the area under the curve (AUC) in the model combining genetic and clinical factors compared to the clinical model alone, with values of 0.582 (95 % CI 0.487–0.676) and 0.645 (95 % CI 0.556–0.735), respectively. However, this difference did not reach statistical significance (P = 0.06).This study highlights the complexity of genetic predictors and their interplay with clinical factors in DKD progression. Despite the promise of personalised medicine through genetic markers, our findings suggest that current clinical factors remain paramount in the prediction of DKD. In conclusion, our results indicate that GWAS-derived GRSs for T2DM and CKD do not offer improved predictive ability over traditional clinical factors in the studied Czech T2DM population.

IJCM_387A: Prevalence of premenstrual syndrome among medical undergraduate &amp; postgraduate female students in central India: a cross-sectional study

Background: Premenstrual syndrome (PMS) is a menstrual disorder that can be described as a group of physical, behavioural, and emotional symptoms that occurs during the last week of luteal phase, which is usually the week before the mensuration. A study on PMS prevalence among different countries worldwide found that 47.8% of women have PMS. PMS is a common problem with symptoms that can negatively affect daily life. Therefore, this study aimed to determine the prevalence of Premenstrual syndrome and its severity among medical undergraduate and postgraduate female students in central India. Objectives: To estimate the prevalence of Premenstrual syndrome among medical undergraduate and postgraduate female students. To assess severity of premenstrual syndrome using the Premenstrual syndrome scale. Methods: A cross sectional study was conducted among 358 participant between the age group of 18 to 45 years. Premenstrual syndrome scale was used to assess the prevalence and severity of premenstrual syndrome. The data was analysed using SPSS software. Results: Age of the study participants range from 20 to 35 years, with mean age of 26.3±4.62 years. The mean age of menarche among participants was 12.8+0.98 years. The prevalence of PMS was 69%. There is a statistically significant association of age at menarche with premenstrual syndrome. Conclusion: The study showed that a higher proportion of medical students had PMS with majority of them having moderate symptoms. Therefore, greater attention needs to be given to PMS as part of healthcare service to improve work-life balance and productivity at work.

A Nationwide Emergency Department Data Analysis to Predict Beers List Medications Use Among Older Adults

BackgroundThe use of potentially inappropriate medications (PIMs) is considered an important quality indicator for older adults seen in the ambulatory care setting. Study ObjectivesTo evaluate the pattern of potentially inappropriate medication (PIMs) use as specified in the Beers Criteria, for older adults during emergency department (ED) visits in the United States. MethodsUsing data from the National Hospital Ambulatory Care Survey (NHAMCS) we identified older adults (age 65 or older) discharged home from an ED visit in 2019. We defined PIMs as those with an ‘avoid’ recommendation under the American Geriatrics Society (AGS) 2019 Beers Criteria in older adults. Logistic regression models were used to assess demographic, clinical, and hospital factors associated with the use of any PIMs upon ED discharge. ResultsOverall, 5.9% of visits by older adults discharged from the ED included administration or prescriptions for PIMs. Among those who received any PIMs, 25.5% received benzodiazepines, 42.5 % received anticholinergics, 1.4% received nonbenzodiazepine hypnotics, and 0.5% received barbiturates. A multivariable model showed statistically significant associations for age 65 to 74 (OR 1.91, 95% CI 1.39–2.62 vs. age >=75), dementia (OR 0.45, 95% CI 0.21–0.95), lower immediacy (OR 2.45, 95% CI 1.56–3.84 vs. higher immediacy), and Northeastern rural region (OR 0.34, 95% CI 0.21–0.55 vs. Midwestern rural). ConclusionWe found that younger age and lower immediacy were associated with increased prescriptions of PIMs for older adults seen, while dementia and Northeastern rural region was associated with reduced use of PIMs seen and discharged from EDs in United States.

Questionable research practices of medical and dental faculty in Pakistan – a confession

PurposeIntellectual honesty and integrity are the cornerstones of conducting any form of research. Over the last few years, scholars have shown great concerns over questionable research practices (QRPs) in academia. This study aims to investigate the questionable research practices amongst faculty members of medical and dental colleges in Pakistan.MethodA descriptive multi-institutional online survey was conducted from June-August 2022. Based on previous studies assessing research misconduct, 43 questionable research practices in four domains: Data collection & storage, Data analysis, Study reporting and Collaboration & authorship were identified and investigated. Descriptive (Frequencies, Percentages, Mean, SD) and Inferential (chi square) statistics were calculated.ResultsA total of 654 faculty members responded. Every respondent reported committing at least one QRP in their career. The most common QRPs included deliberately failing to mention funding, publishing program evaluation data not meant for research purposes or approved by an ethical body, inappropriately storing identifiable information and non-disclosure of any conflicts. There was significant association of age, gender and academic rank with QRPs in ‘Data collection and storage’ and ‘Data Analysis’ domains.ConclusionMedical and dental faculty members participating in this study are involved in a range of questionable research practices (QRPs) in Pakistan. Their confession might have contributed to the faculty developing self-awareness and reinforcing academic integrity. There is a need for reviewing policies and practices to improve research culture. Future research should explore the factors resulting in such practices.

Epidemiology of pediatric hematological malignancies in Kazakhstan: Data from Unified National Electronic Healthcare System 2014-2021.

Patients with ALL had a higher incidence rate than patients with AML. The incidence rate of HL and NHL was relatively similar. All-cause mortality rates for leukemia and lymphomas were quite stable during the study period. Younger age is significantly associated with increased all-cause mortality among AML patients. However, there is no significant association of age with all-cause mortality among ALL, HL and NHL. In order to obtain more reliable data and analysis on pediatric (hematological) malignancies, specific registries for childhood tumors (including detailed information on relapses, treatments, short and long-term side effects, and specific death causes) should be implemented. • Leukemias and lymphomas together account for around 45% of all pediatric malignancies. • Lymphoma accounts for 12% of all childhood malignancies; non-Hodgkin's lymphomas (NHL) are more frequent than Hodgkin's lymphomas (HL). • The incidence rate of ALL was higher than the incidence rate of AML throughout the whole study period, whereas all-cause mortality of ALL and AML was quite stable. • According to Cox PH analysis, younger age (0-5years old) was associated with a higher risk of death among AML children compared to older children, and no significant association of age was observed with all-cause mortality among ALL and lymphomas.

Backward logistic regression analysis of the determinants of the hand function among patients with leprosy: A cross-sectional study.

The hands are the most common site of disability in leprosy. Hand dysfunction could result in difficulty performing activities of daily living. Therefore, hand function should be regularly assessed to ensure that any decrease in hand function could be diagnosed earlier. This study included 110 patients with leprosy from Likupang and Lembata, Indonesia. Hand function was assessed using the modified Jebsen test to measure hand function respective of the dominance. The grip and pinch strength were used as objective measures of clinical arm function. The World Health Organization (WHO) hand disability grade were used to determine the degree of impairment. Other factors such as age, sex and the type of leprosy were also considered. All factors were analysed using backward logistic regression. Among the 110 participants, a decrease in the dominant (48.2%) and non-dominant (50.9%) hand functions were found. Pinch strength (OR: 3.39; 95% CI: 1.13-10.19) and age (OR: 4.91; 95% CI: 1.72-14.03) were significantly associated with hand function irrespective of the dominance. Conversely, the WHO hand disability grade (OR: 2.97; 95% CI: 1.10-8.04) and type of leprosy (OR: 0.34; 95% CI: 0.12-0.97) were significantly associated with only function of the dominant hand. There is a significant association of age and pinch strength with hand function regardless of the hand dominance. In contrast, the WHO hand disability grade and type of leprosy are significantly associated with the function of the dominant hand only.

Thrombocytopenia and its Severity in Plasmodium Vivax Positive Patients

Background: Plasmodium vivax, one of the four species of human malaria parasites, is responsible for a considerable portion of malaria cases. While P. vivax is often considered less severe than Plasmodium falciparum, it is not without its complications. Thrombocytopenia is a common hematological complication associated with malaria infections, including those caused by P. vivax. Objective: To evaluate the severity of thrombocytopenia and relationship between thrombocytopenia and demographic factors, such as age and gender, in Plasmodium vivax positive patients. Study Design: Cross sectional study. Settings: Medicine OPD of Liaquat University of Medical and Health Sciences / Jamshoro and Muhammad Medical College, Mirpur Khas Pakistan. Duration: Six months from May 2022 to October 2022. Methods: Individuals aged over 12 years of either gender with a confirmed diagnosis of Plasmodium vivax were included. A single blood sample was collected from each participant for platelet count analysis, and demographic details and platelet counts were recorded using standardized data collection forms. Thrombocytopenia was defined as a platelet count below a predetermined threshold (e.g., &lt;150,000 platelets/μL). All the information was collected via study proforma and SPSS version 26 was used for the analysis. Results: The participants had a mean age of 29.07 years. 122 individuals (61.3%) were male, and 77 individuals (38.7%) were female. Thrombocytopenia was highly prevalent in patients with a positive diagnosis of Plasmodium vivax, with a frequency of 83.4%. Among the affected individuals, 18.6% had mild thrombocytopenia, 38.2% had moderate thrombocytopenia, and 25.6% were observed with severe thrombocytopenia. According to the thrombocytopenia and its severity based on age and gender the p-values of 0.069 and 0.656 indicates no significant association of age and gender with thrombocytopenia severity. Conclusion: Study revealed a significant frequency of moderate to severe thrombocytopenia in individuals diagnosed with Plasmodium vivax infection and tends to be of moderate to severe intensity, without significant correlation of age and gender.

Quality of Life among Elderly People and its Associated Factors in Makwanpur District: A Descriptive Cross-Sectional Study

Introduction: Aging is a universal process and it affects every individual, family, community, and society. It is a normal, progressive, and irreversible process. Objective: To assess quality of life among elderly people at old age home of Makwanpur district, Nepal. Methods: A descriptive cross-sectional study was conducted among 82 elderly people in old age home using complete enumeration sampling. A structured interview session was conducted by using WHOQOL-BREF tool. Data analysis was done in SPSS version 20 using descriptive statistics such as frequency, percentage, mean and standard deviation. Inferential statistics such as Chi square test was used to determine association. Results: Out of 82 respondents, majority of the respondents perceived QOL as neither poor nor good. Among total respondent's, 36.6% were satisfied with overall perception of health. Also the study revealed the mean score was found higher in physical and psychological domain (50.609±11.75) and 50.304±12.13 respectively. The overall quality of life was found to be 71.292 which is good quality of life. There was significant association of age and religion with physical domain.Conclusions: The study concludes the overall quality of life was good among elderly. The mean score was found to be higher in physical and psychological domain in comparison to environmental and social relationship domain. Significant association was found in physical domain with age and religion.

GIS Environment Based Study of Acute Myocardial Infarction Incidence and Associated Risk Factors at a Major Referral Cardiac Center in Twin City of Rawalpindi and Islamabad, Pakistan

Background: Acute Myocardial Infarction (AMI) is a critical cardiac condition characterized by sudden blood flow blockage to the heart. Previous research indicates associations between AMI risk and factors such as age, gender, lifestyle habits, and preexisting medical conditions. Methods: This cross-sectional spatial analysis study aims to explore the geographically diverse incidence of AMI and associated risk factors in the twin cities of Islamabad and Rawalpindi. Data from 500 AMI patients, collected in April 2022 from a major cardiac center, were analyzed using the Chi-square test to assess associations between AMI risk factors. Results: Significant associations were identified between the lifestyle of AMI patients and diabetes (p = 0.002), and a highly significant association of age was found with diabetes, hypertension, and smoking (p = 0.000). This pioneering spatial analysis of AMI incidence provides valuable insights for developing national health interventions in Pakistan. Conclusion: This study addresses the significant concern of AMI incidence and associated risk factors in data-sparse Pakistan. Utilizing Geographical Information System (GIS), it offers a spatial understanding of AMI distribution and patterns, paving the way for future cardiovascular health research in the country.

Risk stratification utilizing sequential organ failure assessment (SOFA) score, antithrombin activity, and demographic data in sepsis-associated disseminated intravascular coagulation (DIC)

Disseminated intravascular coagulation (DIC) is a frequent complication in patients with sepsis and is associated with increased mortality. Anticoagulant therapy may be appropriate for certain patients with DIC, particularly those with increased disease severity and deficiency in the physiologic anticoagulant antithrombin. We retrospectively analyzed post-marketing survey data from 1562 patients with sepsis-associated DIC and antithrombin activity of 70% or less. All the patients were treated with antithrombin concentrates. Baseline sequential organ failure assessment (SOFA) score, DIC score, and antithrombin activity were assessed. Cox multivariate regression analysis, Kaplan–Meier curve analysis, and receiver operating characteristic (ROC) curve analysis were performed to evaluate the performance of variables used to assess mortality. Furthermore, a decision tree was constructed to classify the risk of 28-day mortality. COX multivariate regression analysis demonstrated a significant association of age, sex, baseline SOFA score, baseline antithrombin activity, and the presence of pneumonia or skin/soft tissue infection with increased mortality. The area under the curve of SOFA score or antithrombin activity for mortality was 0.700 and 0.614, respectively. Kaplan–Meier analysis demonstrated that mortality was significantly higher in patients with SOFA score ≥ 12 and antithrombin activity < 47%. The decision tree analysis accurately classified the risk of death into high (> 40%), medium (40%–20%), and low (< 20%) categories in 86.1% of the cohort. Twenty eight-day mortality can be strongly predicted using baseline SOFA score, antithrombin activity, infection site, age, and sex as variables in the clinical decision tree for patients with sepsis-associated disseminated intravascular coagulation (DIC).

Machine Learning-Based Survival Analysis Reveals Prognostic Clinical and Genetic Insights for Patients with Cutaneous T-Cell Lymphoma

Introduction: Cutaneous T-cell lymphomas (CTCL) are heterogeneous lymphoproliferative disorders on a spectrum of disease presentation and severity. Around two-thirds of cutaneous T-cell lymphomas can be classified as mycosis fungoides (MF) or Sézary syndrome (SS). While advanced stages of MF and SS are associated with decreased survival and worse outcomes, even early-stage patients can possess a variable course. Numerous deep sequencing studies have fallen short in identifying genetic abnormalities that drive disease pathogenesis and predict prognosis. Large-cell transformation and elevated lactate dehydrogenase levels are associated with worse prognosis in SS; however, such features cannot accurately prognosticate patient survival. There is a need for investigation that may assist in the prognostication of survival in patients with CTCL. Machine learning methods may help to elucidate correlations between clinical and genetic factors to predict disease progression and outcomes. Objective: Using integrated clinical and genomic data from six international sequencing studies, this investigation aimed to perform survival analysis to identify both clinical and genetic features of survival outcomes using artificial intelligence/machine learning methods. Methods: A total of 126 eligible patients were identified, of which 99 had sufficient clinical data and 88 had sufficient clinical and genetic data. Poisson distribution was used to assess genomic data and significant genetic abnormalities for each individual patient were linked with their corresponding clinical outcomes. Genetic inputs included mutational data at a frequency of greater than or equal to four dataset occurrences. Multiple imputation using a random forest model was applied to all included variables (rate of missingness &amp;lt;10%). Overall survival was assessed using three separate cox models fit with patient clinical, laboratory, or treatment covariates. Ten-fold cross validated Least Absolute Shrinkage and Selection Operator (LASSO) was applied using adaptive regularization, and an iterated approach using 100 ten-fold cross validation repeats (resampling validation) to select the lambda value with the highest average C-index. The one-standard-error rule was used for the adaptive LASSO, while the iterated LASSO penalty was relaxed by 0.1. Prior to adjusting the lambdas, the best performing C-index was 0.73 and 0.64 for the adaptive LASSO and iterated LASSO, respectively. Following adjustment, the C-indexes were 0.71 and 0.60. To elucidate genetic candidates, we performed genome-wide association studies (GWAS) which used the false discovery rate (FDR) multiple comparisons correction and adjusted for the first three principal components in a principal component analysis (PCA) that included the imputed non-mutational covariates. Results: We have used standard statistical and machine learning methodologies to elucidate prognostic factors in MF and SS. Using standard cox regression analysis and in agreement with prior investigations, our investigation showed significant associations for age at diagnosis (hazard ratio = 1.06, P&amp;lt;0.001), stage at sampling (hazard ratio =1.99, P=0.007), and lymph node involvement at diagnosis (hazard ratio = 4.59, P&amp;lt;0.001). For the first time, using PCA-adjusted GWAS and iterated and adaptive LASSO, we demonstrate the association of mutated genes with survival in patients with MF and SS (e.g. most significant GWAS hazard ratio of 0.17, P=0.007, FDR=0.35). Moreover, several mutated genes were associated with particularly poor outcomes and high mortality (e.g. most significant GWAS hazard ratio of 5.26, P=0.003, FDR=0.63). Mutated genes with the highest or lowest magnitude using LASSO effect estimates in GWAS (lowest P values) were highly associated with survival outcomes. When present, the mutated genes carried significant prognostic implications for these patients. Conclusions: Taken together, we demonstrate the potential of machine learning and artificial intelligence methodologies for investigation of novel genetic associations with survival prognostication. Future investigations are needed to validate our findings in prospective studies.

Developmental atlas of phase-amplitude coupling between physiologic high-frequency oscillations and slow waves

We investigated the developmental changes in high-frequency oscillation (HFO) and Modulation Index (MI) – the coupling measure between HFO and slow-wave phase. We generated normative brain atlases, using subdural EEG signals from 8251 nonepileptic electrode sites in 114 patients (ages 1.0–41.5 years) who achieved seizure control following resective epilepsy surgery. We observed a higher MI in the occipital lobe across all ages, and occipital MI increased notably during early childhood. The cortical areas exhibiting MI co-growth were connected via the vertical occipital fasciculi and posterior callosal fibers. While occipital HFO rate showed no significant age-association, the temporal, frontal, and parietal lobes exhibited an age-inversed HFO rate. Assessment of 1006 seizure onset sites revealed that z-score normalized MI and HFO rate were higher at seizure onset versus nonepileptic electrode sites. We have publicly shared our intracranial EEG data to enable investigators to validate MI and HFO-centric presurgical evaluations to identify the epileptogenic zone.

A statistical shape model for estimating missing soft tissues of the face in a black South African population.

Facial disfigurement may affect the quality of life of many patients. Facial prostheses are often used as an adjuvant to surgical intervention and may sometimes be the only viable treatment option. Traditional methods for designing soft-tissue facial prostheses are time-consuming and subjective, while existing digital techniques are based on mirroring of contralateral features of the patient, or the use of existing feature templates/models that may not be readily available. We aim to support the objective and semi-automated design of facial prostheses with primary application to midline or bilateral defect restoration where no contralateral features are present. Specifically, we developed and validated a statistical shape model (SSM) for estimating the shape of missing facial soft tissue segments, from any intact parts of the face. An SSM of 3D facial variations was built from meshes extracted from computed tomography and cone beam computed tomography images of a black South African sample (n = 235) without facial disfigurement. Various types of facial defects were simulated, and the missing parts were estimated automatically by a weighted fit of each mesh to the SSM. The estimated regions were compared to the original regions using color maps and root-mean-square (RMS) distances. Root mean square errors (RMSE) for defect estimations of one orbit, partial nose, cheek, and lip were all below 1.71mm. Errors for the full nose, bi-orbital defects, as well as small and large composite defects were between 2.10 and 2.58mm. Statistically significant associations of age and type of defect with RMSE were observed, but not with sex or imaging modality. This method can support the objective and semi-automated design of facial prostheses, specifically for defects in the midline, crossing the midline or bilateral defects, by facilitating time-consuming and skill-dependent aspects of prosthesis design.

Femoral neck version in the spinopelvic and lower limb 3D alignment: a full-body EOS® study in 400 healthy subjects.

The goal of this study was to better understand the variation of femoral neck version according to spinopelvic and lower limb 3D alignment using biplanar X-rays in standing position. This multicentric study retrospectively included healthy subjects from previous studies who had free-standing position biplanar radiographs. Subjects were excluded if they presented spinal or any musculo-skeletal deformity, and reported pain in the spine, hip or knee. Age, sex, and the following 3D-reconstructed parameters were collected: spinal curvatures, pelvic parameters, sagittal vertical axis (SVA), T1 pelvic angle (TPA), spino-sacral angle (SSA), femoral torsion angle (FTA), sacro-femoral angle (SFA), knee flexion angle (KA), ankle angle (AA), pelvic shift (PS) and ankle distance. Femoral neck version angle (FVA) was calculated between horizontal plane projection of the bi-coxo-femoral axis and the line passing through the femoral neck barycenter and femoral head center. Analysis according to age subsets was performed. A total of 400 subjects were included (219 females); mean age was 29 ± 18years (range: 4-83). Subjects with high pelvic tilt values presented significantly higher FVA than average and low-PT individuals, respectively, 7.8 ± 7.1°, 2 ± 9° and 2.1 ± 9.5° (p < 0.001). These subjects also presented lower lumbar lordosis values and higher acetabulum anteversion in the horizontal plane than the two other groups. SVA correlation with FVA was weaker (r = 0.1, p = 0.03) than SSA and TPA (r = - 0.3 and r = 0.3, respectively, p < 0.001). A strong correlation was found with femoral torsion (r = 0.5, p < 0.001). SFA (r = - 0.3, p < 0.001), pelvic shift (r = 0.2, p < 0.001) and ankle distance (r = 0.3, p < 0.001) were also significantly correlated. Multivariate analysis confirmed significant association of age, pelvic tilt, lumbar lordosis, pelvic shift, ankle distance and femoral torsion with FVA. Patients with lower lumbar lordosis present pelvic retroversion which induces a higher femoral neck version. This finding may help positioning implants in total hip replacement procedures. Higher pelvic shift, age, male gender and increased femoral torsion were also correlated with higher FVA. II (Diagnostic: individual cross-sectional studies with consistently applied reference standard and blinding).

Epigenetic aging in cows is accelerated by milk production

ABSTRACT DNA methylation has proven to be the most promising age-predictive biomarker in mammals resulting in the emergence of ‘epigenetic clocks’ that describe the relationship between methylation levels and age. Using Targeted bisulfite Sequencing, we evaluated blood DNA-methylation data from 96 domesticated cows (Bos Taurus) of which 88 were adults and 8 were calves. This allowed us to measure DNA methylation across three thousand regions in the genome that were conserved across mammals. The significant association of age with the changes in DNA methylation enabled us to construct an epigenetic clock that predicts the age of cows to within nine months. We also investigated whether factors exist that moderate the association between epigenetic age and actual age and found that milk production levels significantly increase the rate of epigenetic ageing, suggesting that the stress of excessive milk production might be accelerating epigenetic ageing in cows.