Dermatoglyphs in Patients with Beta-Thalassemia Major and Their Thalassemia Carrier Parents

Dermatoglyphs are cutaneous ridges on the fingers, palms, and soles, formed during early intrauterine life. During this period, and only then, genetic and environmental factors can influence their formation. Beta-thalassemia major is an genetic disease. The aim of the present work was to analyze dermatoglyphs traits in subjects with beta-thalassemia major and their thalassemia carrier parents. The sample included 59 patients with beta-thalassemia major (39 males, 20 females). We also analyzed a total of 61 thalassemia carrier parents. There were 38 mothers and 23 fathers in the study. The control group comprised 120 healthy subjects (64 men, 56 women). All ten fingers and right hand palm prints of all participants were taken and statistically analyzed. The results of analyses showed that the frequency of loops on the fifth finger of left hand was significantly higher in female patients than that of carriers and controls (p<0.05). It was also significantly higher in female patients than that male patients (p=0.03). The increase in mean c-d ridge count was noticed in female patients only (p=0.04) compared to carriers and controls. In addition to that there was also differences according to the mean c-d ridge count between female and male patients (p=0.01). Our study showed that dermatoglyphs were helpful for the diagnosis of beta-thalassemia major. However, it does not help to detect thalassemia carriers. This study is the comprehensive dermatoglyphic research on thalassemia, and its dermatoglyphic data will be useful for future research in genetics and medicine

Guidelines for Reporting and Archiving 210Pb Sediment Chronologies to Improve Fidelity and Extend Data Lifecycle

Radiometric dating methods are essential for developing geochronologies to study Late Quaternary environmental change and 210Pb dating is commonly used to produce age-depth models from recent (within 150 years) sediments and other geoarchives. The past two centuries are marked by rapid environmental socio-ecological changes frequently attributed to anthropogenic land-use activities, modified biogeochemical cycles, and climate change. Consequently, historical reconstructions over this recent time interval have high societal value because analyses of these datasets provide understanding of the consequences of environmental modifications, critical ecosystem thresholds, and to define desirable ranges of variation for management, restoration, and conservation. For this information to be used more broadly, for example to support land management decisions or to contribute data to regional analyses of ecosystem change, authors must report all of the useful age-depth model information. However, at present there are no guidelines for researchers on what information should be reported to ensure 210Pb data are fully disclosed, reproducible, and reusable; leading to a plethora of reporting styles, including inadequate reporting that reduces potential reusability and shortening the data lifecycle. For example, 64% of the publications in a literature review of 210Pb dated geoarchives did not include any presentation of age uncertainty estimates in modeled calendar ages used in age-depth models. Insufficient reporting of methods and results used in 210Pb dating geoarchives severely hampers reproducibility and data reusability, especially in analyses that make use of databased palaeoenvironmental data. Reproducibility of data is fundamental to further analyses of the number of palaeoenvironmental data and the spatial coverage of published geoarchives sites. We suggest, and justify, a set of minimum reporting guidelines for metadata and data reporting for 210Pb dates, including an IEDA (Interdisciplinary Earth Data Alliance), LiPD (Linked Paleo Data) and generic format data presentation templates, to contribute to improvements in data archiving standards and to facilitate the data requirements of researchers analyzing datasets of several palaeoenvironmental study sites. We analyse practices of methods, results and first order interpretation of 210Pb data and make recommendations to authors on effective data reporting and archiving to maximize the value of datasets. We provide empirical evidence from publications and practitioners to support our suggested reporting guidelines. These guidelines increase the scientific value of 210Pb by expanding its relevance in the data lifecycle. Improving quality and fidelity of environmental datasets broadens interdisciplinary use, lengthens the potential lifecycle of data products, and achieves requirements applicable for evidenced-based policy support

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Spatial distribution and risk factors of Schistosoma haematobium and hookworm infections among schoolchildren in Kwale, Kenya

Background: Large-scale schistosomiasis control programs are implemented in regions with diverse social and economic environments. A key epidemiological feature of schistosomiasis is its small-scale heterogeneity. Locally profiling disease dynamics including risk factors associated with its transmission is essential for designing appropriate control programs. To determine spatial distribution of schistosomiasis and its drivers, we examined schoolchildren in Kwale, Kenya. Methodology/Principal findings: We conducted a cross-sectional study of 368 schoolchildren from six primary schools. Soil-transmitted helminths and Schistosoma mansoni eggs in stool were evaluated by the Kato-Katz method. We measured the intensity of Schistosoma haematobium infection by urine filtration. The geometrical mean intensity of S. haematobium was 3.1 eggs/10 ml urine (school range, 1.4?9.2). The hookworm geometric mean intensity was 3.2 eggs/g feces (school range, 0?17.4). Heterogeneity in the intensity of S. haematobium and hookworm infections was evident in the study area. To identify factors associated with the intensity of helminth infections, we utilized negative binomial generalized linear mixed models. The intensity of S. haematobium infection was associated with religion and socioeconomic status (SES), while that of hookworm infection was related to SES, sex, distance to river and history of anthelmintic treatment. Conclusions/Significance: Both S. haematobium and hookworm infections showed micro-geographical heterogeneities in this Kwale community. To confirm and explain our observation of high S. haematobium risk among Muslims, further extensive investigations are necessary. The observed small scale clustering of the S. haematobium and hookworm infections might imply less uniform strategies even at finer scale for efficient utilization of limited resources

Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

Background Disorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021. Methods We estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined. Findings Globally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer. Interpretation As the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed. Funding Bill & Melinda Gates Foundation

Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

BackgroundDisorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021.MethodsWe estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined.FindingsGlobally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer.InterpretationAs the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed

Investigation of earthquake resistance at primary school buildings in Turkey

The most important natural disaster is earthquake in Turkey. A very large part of our country has 1st and 2nd degree in earthquake zones. Experienced in the past earthquakes and earthquake damages showed the importance of architectural design of buildings on the earthquake. Various types of projects have been created for educational buildings by public organizations after the 1999 Marmara earthquake. there is some irregularity on these types of projects according DBYBHY-2007. According to all these datas, three different types of projects were designed and modeled by Probina-orion program. Square, rectangular and L-shaped form were investigated in terms of 2007 Earthquake Guide irregularities. According to the results of these analyzes, behavior of forms during the earthqauke were compared. Results obtained from the study show that the geometry and symmetrical static systems of the different forms of education buildings have affected their behaviors during the earthquakes

Effect of Incorporation of Boron Nitride Nanoparticles on Oxygen Barrier Properties of Poly (3-hydroxybutyrate-co-3-hydroxyvalerate)

International audienc