Hasil untuk "Human anatomy"

S. Mueller, Danhong Wang, Michael D Fox et al.

S. Köhler, S. Doelken, C. Mungall et al.

The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.

M. Catani, R. Howard, S. Pajevic et al.

N. Ramnani, A. Owen

S. Atasoy, I. Donnelly, J. Pearson

A key characteristic of human brain activity is coherent, spatially distributed oscillations forming behaviour-dependent brain networks. However, a fundamental principle underlying these networks remains unknown. Here we report that functional networks of the human brain are predicted by harmonic patterns, ubiquitous throughout nature, steered by the anatomy of the human cerebral cortex, the human connectome. We introduce a new technique extending the Fourier basis to the human connectome. In this new frequency-specific representation of cortical activity, that we call ‘connectome harmonics’, oscillatory networks of the human brain at rest match harmonic wave patterns of certain frequencies. We demonstrate a neural mechanism behind the self-organization of connectome harmonics with a continuous neural field model of excitatory–inhibitory interactions on the connectome. Remarkably, the critical relation between the neural field patterns and the delicate excitation–inhibition balance fits the neurophysiological changes observed during the loss and recovery of consciousness. Inter-areal oscillatory synchronization is constrained by anatomical connections, yet a fundamental principle linking functional and structural connectivity is lacking. Here, Atasoy and colleagues show that harmonic patterns in structural connectome can predict dynamics of resting state networks.

Quentin Welniarz, I. Dusart, E. Roze

Masaharu Yoshihara, Yoshitoku Watabe, Momo Morikawa et al.

BACKGROUND: It is unclear whether the development of the branches of the subclavian artery is dependent on the proximal part of this artery, since great vessel formation is partly regulated by haemodynamic stress. For example, the vertebral artery that usually arises from the subclavian artery might be affected by anomalies in the aortic arch branches. This uncertainty is partly due to the limited reports of highly anomalous cases of proximal and distal branching morphologies. Here, we report the case of an Adachi-Williams type CG plus H aortic arch found during dissection, and discuss the development of the cervicothoracic circulation. CASE REPORT: We report an aberrant right subclavian artery that arose from the aorta distal to the left subclavian artery, via a retroesophageal course, whereas the right and left common carotid arteries arose from a short common trunk from the aorta (the carotid trunk) (Adachi-Williams type H). In addition, the left vertebral artery arose directly from the aortic arch between the carotid trunk and the left subclavian artery (Adachi-Williams type CG). Anomalies in the branching arteries from this aberrant right subclavian artery (the right vertebral artery, internal thoracic artery, thyrocervical trunk, costocervical trunk and thoracoacromial artery) were unidentifiable. The right vagus nerve directly innervates the laryngeal muscles without forming the recurrent nerve. CONCLUSIONS: The development of an aberrant right subclavian artery might affect haemodynamic stress in both the proximal and distal regions of the anterior limb region. The distal branching morphology, however, was normal, suggesting independence from proximal and distal vasculature development. Since the concomitance of Adachi-Williams types CG and H is rare, rather than sequentially develop, the distal arteries develop in a fine-tuned manner to adapt to anomalies in the proximal arteries.

Jean C Kanitakis

Krzysztof Balawender, Iwona Kucharska-Miąsik, Maksymilian Kłosowicz et al.

Background: Meckel's diverticulum is one of the most common congenital malformations of the gastrointestinal tract. About three-fourths of Meckel's diverticulum are located in the distance ranging from 40 cm to 100 cm from the ileocecal valve. Most cases are lined with heterotopic mucosa (e.g., gastric, pancreatic, jejunal). Many cases are asymptomatic. Aim: This case report aims to present an ultrasound image for intussusception caused by the anatomical anomaly, namely Meckel's diverticulum. The article was written to integrate fundamental knowledge of anatomical variations or anomalies with clinical context. Case description: A 5-year-old girl previously diagnosed with obesity came to the hospital with severe abdominal pain. The abdomen, on palpation examination, was tender and painful. Diagnosis of intussusception was initially based on the history, clinical symptoms, and ultrasound imaging. The girl was finally qualified for surgery. During the procedure, the bowel invagination was performed, and Meckel's diverticulum was removed. The intestine was double-layered and intraoperatively confirmed intussusception with Meckel's diverticulum. Conclusions: Knowledge of anatomical anomalies is significant for practitioners. Meckel's diverticulum may be the cause of invagination intestines. CT or MRI is the test of choice when intussusception is suspected during a proliferative disease.

C. Marfurt, Jeremiah Cox, S. Deek et al.

J. Cracowski, M. Roustit

The anatomy and physiology of the microcirculation in human skin are complex. Normal cutaneous microcirculation is organized in two parallel plexuses with capillary loops extending perpendicularly from the superficial plexus. The physiological regulation of cutaneous microcirculation includes specific sympathetic activation, which causes vasoconstriction through the release of norepinephrine, neuropeptide Y, and ATP. A sympathetic cholinergic system is mainly involved in vasodilation through the co‐transmission of acetylcholine, vasoactive intestinal peptide, and pituitary adenylate cyclase‐activating peptide. Sensory nerves play a major role through the release of calcitonin gene‐related peptide and substance P. Endothelium‐dependent vasomotion implicates nitric oxide, prostacyclin, endothelium‐dependent hyperpolarizing factors, and endothelin. Myogenic response also plays a role and explains why autoregulation is weak but exists in glabrous human skin. Variations in skin blood flow result from highly complex interactions between these mechanisms. In this article, we will detail the anatomy, physiology, and current methods of exploring the human microcirculation. We will further discuss the part played by cutaneous microvascular impairment in the pathophysiology of cardiovascular and metabolic diseases, or diseases more specifically affecting the skin. © 2020 American Physiological Society. Compr Physiol 10:1105‐1154, 2020.

Ahmed Khocht, Denise Bellinger, Leticia Lenoir et al.

<i>Background and Objectives</i>: An obesity-related elevated body mass index (BMI) across life is associated with chronic low-grade inflammation and increased levels of C-reactive protein (CRP) in blood. CRP is a marker and promoter of inflammation. The objectives of this study were to examine the effect of obesity on the relationship between peripheral and gingival CRP levels and to examine the effects of gingival CRP levels on gingival fluid inflammatory cytokines in periodontitis-resistant obese individuals. <i>Materials and Methods</i>: Thirty-nine participants in good periodontal health were recruited. Twenty patients were classified as lean and nineteen as obese based on their BMI levels. A thorough periodontal assessment was carried out. Gingival crevicular fluid (GCF) and blood samples were collected. Both GCF and blood samples were analyzed for interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor-α (TNF-α), interleukin-10 (IL-10), interleukin-17A (IL-17A), and CRP. <i>Results</i>: GCF CRP levels were significantly higher in the obese than in the lean individuals. No statistically significant differences were noted between the two groups in either GCF or blood in terms of any of the inflammatory cytokine levels. IL-17A was not detected in the GCF of most subjects in both groups. GCF CRP levels were positively associated with blood CRP levels, and the association tended to be stronger in the obese individuals. GCF CRP showed no associations with GCF IL-10 in both groups. Although GCF CRP levels were positively associated with multiple GCF inflammatory cytokines (e.g., IL-1β, IL-6, IL-8, and TNF-α) in all subjects, the associations tended to be weaker in the obese individuals (e.g., IL-1β, IL-6, and TNF-α). Furthermore, the levels of the GCF inflammatory cytokines IL-6 and TNF-α were decreased in the obese individuals. <i>Conclusions</i>: Obesity unfavorably influences the relationship between blood and GCF CRP levels and promotes increased CRP levels in GCF. Collectively, the findings suggest a weakened inflammatory cytokine response in the gingival tissues of obese individuals.

Simone Radavelli‐Bagatini, Helen Macpherson, David Scott et al.

Abstract Background Impaired muscle function has been identified as a risk factor for declining cognitive function and cardiovascular health, both of which are risk factors for late‐life dementia (after 80 years of age). We examined whether hand grip strength and timed‐up‐and‐go (TUG) performance, including their change over 5 years, were associated with late‐life dementia events in older women and whether any associations provided independent information to Apolipoprotein E ℇ4 (APOE ℇ4) genotype. Methods Grip strength and TUG were assessed in community‐dwelling older women (mean ± SD; age 75.0 ± 2.6 years) at baseline (n = 1225) and 5 years (n = 1052). Incident 14.5‐year late‐life dementia events (dementia‐related hospitalization/death) were obtained from linked health records. Cardiovascular risk factors (Framingham Risk Score), APOE genotyping, prevalent atherosclerotic vascular disease and cardiovascular‐related medications were evaluated at baseline. These were included in multivariable‐adjusted Cox‐proportional hazards models assessing the relationship between muscle function measures and late‐life‐dementia events. Results Over follow‐up, 207 (16.9%) women had a late‐life dementia event. Compared with women with the highest grip strength (Quartile [Q] 4, 25.8 kg), those with the lowest grip strength (Q1, 16.0 kg) had greater hazard for a late‐life dementia event (HR 2.27 95% CI 1.54–3.35, P < 0.001). For TUG, the slowest women (Q4, 12.4 vs. Q1, 7.4 s) also recorded a greater hazard for a late‐life dementia event (HR 2.10 95% CI 1.42–3.10, P = 002). Weak hand grip (<22 kg) or slow TUG (>10.2 s) provided independent information to the presence of an APOE ℇ4 allele (n = 280, 22.9%). Compared with women with no weakness and no APOE ℇ4 allele, those with weakness and APOE ℇ4 allele had a greater hazard (HR 3.19 95% CI 2.09–4.88, P < 0.001) for a late‐life dementia event. Women presenting with slowness and the APOE ℇ4 allele also recorded a greater hazard for a late‐life dementia event (HR 2.59 95% CI 1.64–4.09, P < 0.001). For 5‐year muscle function changes, compared with women with the lowest performance decrement (Q1), those with the largest decrement (Q4) had higher hazards for a late‐life dementia event (grip strength HR 1.94 95% CI 1.22–3.08, P = 0.006; TUG HR 2.52 95% CI 1.59–3.98, P < 0.001) over the next 9.5 years. Conclusions Weaker grip strength and slower TUG, and a greater decline over 5 years, were significant risk factors for a late‐life‐dementia event in community‐dwelling older women, independent of lifestyle and genetic risk factors. Incorporating muscle function measures as part of dementia screening appears useful to identify high‐risk individuals who might benefit from primary prevention programmes.

mamta mahur, Munendra Singh, Om Prakash Gurjar et al.

Introduction: In radiotherapy treatment of head and neck (H&N) cancers, more complex quality assurance checks and patient-specific dosimetry are required to ensure accuracy in modern technology. In this paper, a new cost-effective human tissue equivalent H&N phantom was designed to serve as an economical and adaptable tool for assessment and assurance of precise radiotherapy dose delivery. Material and Methods: The phantom was designed using locally available paraffin wax and tissue-equivalent materials. Computed tomography (CT) images of the phantom were acquired using a conventional CT simulator and were registered with the images of a real patient having approximately similar physical dimensions. The geometric and attenuation properties of the structures in the phantom were studied and compared to the structures of the real patient.  Results: Hounsfield unit (HU) values of different structures of the phantom were compared to the values obtained from the CT images of a real patient and were found to be in good agreement. HU values obtained for the right, and left eye, brain, larynx, and bone shell were 7(±10) HU, 6(±9), 30(±14) HU, -984(±6) HU and 873(±214) HU in phantom. Structures simulated in phantom agreed well on comparison regarding both their design and radiation properties with respect to real patient human tissues. Gamma analysis was performed for the axial dose plane at plan isocenter for both the calculated dose distribution in H&N phantom and the patient agrees for 98.79% passing rate for 3% /3mm criteria. Conclusion: The designed phantom depicts human anatomy and meets the requirements of tissue equivalence. The result shows that phantom has proved to be a cost-effective and valuable tool for accurate verification of dose distributions in regions of clinical and dosimetric interests.

Bekalu Getachew, Tilahun Alemayehu, Soressa Abebe et al.

Background: Congenital anomalies, also known as birth defects, are structural, functional and metabolic disorders that occur during intrauterine life and can be identified prenatally, at birth or later in life. According to the World Health Organization, an estimated 270,000 deaths globally were attributable to congenital anomalies, and the aim of the study was to examine factors associated with overt congenital anomalies in Ethiopia in general and in Jimma particularly is currently inadequate. Objectives: To assess the prevalence of overt congenital anomalies and associated factors among neonates delivered at Jimma university medical center. Methods: An institutional based cross-sectional study was conducted from May 1 to June 30, 2018. Data was collected from 754 delivered neonates with their respective mothers using structured and interviewer- administered questionnaire. All data were cleaned, coded and entered into EPI data 3.1 and exported to SPSS software version 20:0 for analysis. Analysis included descriptive statistics and logistic regression. Multivariate logistic regression model was fitted to assess the association between the independent and dependent variables. Adjusted Odds ratios were calculated with 95 % CIs and considered significant with a p-value < 0.05. Results: A total of 754 neonates were delivered from 754 mothers. The study finding showed that the prevalence of overt congenital anomalies among live and still births neonates was 4.1 % (411 per 10,000 births). Majority of anomalies were isolated and major in 93.5 % and 96.7 % of cases respectively. Central nervous system anomalies had the highest prevalence (45.1 %) and followed by orofacial clefts (25.8 %) and musculoskeletal system defects (13 %).Unknown medication uses during early pregnancy (AOR = 15.18; 95 % CI: 5.51–40.27, p-value=<0.00), history of maternal khat chewing in early pregnancy (AOR = 3.41; 95 % CI: 1.46–7.95, p-value = 0.004), and maternal chronic illness before conception (AOR = 4.3; 95 % CI = 1.65–11.37, p-value = 0.031), were the factors associated with overt congenital anomalies. Folic acid use (AOR = 0.18; 95 % CI: 0.02–0.92, p-value = 0.003) during periconception had a protective effect from overt congenital anomaly. Conclusion: The Prevalence of overt congenital anomalies among the study participants was high. Unknown medication use, folic acid use, maternal chronic illness and history of maternal khat chewing were independent predictors of overt congenital anomalies.

Z. Junde, L. Tingting, Z. Lu et al.

BACKGROUND: Lithium chloride (LiCl) has a significant neuroprotective effect in cerebral ischaemia. However, to date, there is a paucity of evidence on the role of LiCl in neural restoration after brain ischaemia and the signalling pathways involved remain unclear. MATERIALS AND METHODS: Therefore, to address this gap, the middle cerebral artery occlusion (MCAO) rat model was used to simulate human ischaemia stroke. Male Sprague-Dawley rats were given MCAO for 90 min followed by reperfusion, and Dickkopf-1 (DKK1, 5.0 μg/kg) was administered half an hour before MCAO. Rats were then treated with hypodermic injection of LiCl (2.0 mmol/kg) twice a day for 1 week. After treatment, cognitive impairment was assessed by the Morris water maze test. Neurological deficit score, 2,3,5-triphenyl tetrazolium chloride staining, brain water content, and histopathology were used to evaluate brain damage. Enzyme-linked immunosorbent assay was used to measure oxidative stress damage and inflammatory cytokines. Apoptosis of the hippocampal neurons was tested by western blot. The key factors of Wnt signalling pathway in the ischaemic penumbra were detected by immunofluorescence staining and quantitative real-time polymerase chain reaction. RESULTS: Current experimental results showed that LiCl treatment significantly improved the impaired spatial learning and memory ability, suppressed oxidative stress, inflammatory reaction, and neuron apoptosis accompanied by attenuating neuronal damage, which subsequently decreased the brain oedema, infarct volume and neurological deficit. Furthermore, the treatment of LiCl activated Wnt signalling pathway. Interestingly, the aforementioned effects of LiCl treatment were markedly reversed by administration of DKK1, an inhibitor of Wnt signalling pathway. CONCLUSIONS: These results indicate that LiCl exhibits neuroprotective effects in focal cerebral ischaemia by Wnt signalling pathway activation, and it might have latent clinical application for the prevention and treatment of ischaemic stroke.

Samuel Goesniady, Wilma Latuny

Baggage workers is a livelihood in the informal sector which is carried out by selling services to transport goods/materials from one place to another. The workload carried by the workers will determine how much income they receive in a day. For this reason, baggage workers tend to scramble to transport goods to earn more income, so sometimes baggage workers will carry goods beyond their capacity. The Facial Action Coding System (FACS) is a comprehensive anatomy-based system for visually describing all visible facial movements. It breaks down facial expressions into individual components of muscle movement, called Action Units (AUs). Given the fact that FACS can identify fatigue by analyzing human facial expressions, the authors took the initiative to explore the facial expressions of workers' fatigue with FACS automation on CERT. In this research, it was found that there was an indication of fatigue in baggage workers. This can be seen from the significant changes in the value of action units indicating fatigue for baggage workers before and after work, including an increase in the value of AU 01, AU 15, AU 20 and AU 23, while the AU 12 which is identical to the smile expression experienced a decrease in intensity in most of the subjects and the different test results from the five Action Units showed that there were significant differences between the Action Units before and after work.

Marcus Rock, Georgios D. Zouganelis, Ana Flavia Belchior de Andrade et al.

Background: Biomarker detection strategies have, in recent years, been moving towards nucleic acid-based detection systems in the form of aptamers, short oligonucleotide sequences which have shown promise in pre-clinical and research settings. One such aptamer is M5-15, a DNA aptamer raised against human alpha synuclein (α-syn) the causative agent in Lewy body and Parkinson’s disease (PD) associated dementia. While this aptamer has shown promise, in silico methodologies have demonstrated a capacity to produce aptamers that have higher affinities for their targets than in vitro generated sequences. Methods: A Python script random generated library of DNA sequences were screened based on their thermodynamic stability with the use of DINAMelt server-QuickFold web server. The selected sequences were examined with MFold in order to generate secondary structure data that were used to produce 3D data with the use of RNA composer software. Further on, the structure was corrected and RNA was replaced with DNA and the virtual screening for α-syn aptamer took place with a series of molecular docking experiments with the use of CSD-Discovery-GOLD software. Results: Herein we propose an alternative in silico generated aptamer we call TMG-79 which demonstrates greater affinity for the target compared to M5-15 (M5-15 = –15.9 kcal/mol, TMG-79 = –17.77 kcal/mol) as well as better ChemPLP fitness scoring between the top poses (M5-15 = 32.33, TMG-79 = 53.32). Structural analysis suggests that while there are similarities, the greater potential flexibility of TMG-79 could be promoting greater affinity for the α-syn compared to M5-15. Conclusions: In silico methods of aptamer generation has the potential to revolutionise the field of aptamer design. We feel that further development of TMG-79 and validation in vitro will make it a viable candidate for diagnostic and research use in the future.

L Krauel, A Valls-Esteve, A Tejo-Otero et al.

Additive manufacturing (AM), otherwise known as 3D-Printing (3DP) or rapid prototyping (RP), is the fabrication of an object from zero by means of depositing materials layer by layer. 3DP allows the creation of complex geometrical objects such as human anatomy. 3DP applications in a surgical setting have mainly been described for anatomical models (surgical planning, simulation and education), customized implants, prostheses and surgical guides. In order to 3DP for surgical planning, Digital Imaging and Communications in Medicine (DICOM) images are converted to Standard Tessellation Language (STL) files. This process is called segmentation. Segmentation of bone structures is nowadays quite automated, whilst this becomes a challenge when dealing with other anatomical parts such as organs or soft tissues. This review explores what can be done in 3DP for surgical planning beyond bone structures, the current available technology, and clinical applications, limitations of printers and materials and ongoing research.

Tesfa Sewunet Alamneh, Achamyeleh Birhanu Teshale, Misganaw Gebrie Worku et al.

Abstract Background Globally, preterm birth is the leading cause of neonatal and under-five children mortality. Sub-Saharan African (SSA) accounts for the majority of preterm birth and death following its complications. Despite this, there is limited evidence about the pooled prevalence and associated factors of preterm birth at SSA level using nation-wide representative large dataset. Therefore, this study aimed to determine the pooled prevalence and associated factors of preterm birth among reproductive aged women. Methods The recent Demographic and Health Surveys (DHSs) data of 36 SSA countries were used. We included a total weighted sample of 172,774 reproductive-aged women who were giving birth within five years preceding the most recent survey of SSA countries were included in the analysis. We used a multilevel logistic regression model to identify the associated factors of preterm birth in SSA. We considered a statistical significance at a p-value less than 0.05. Results In this study, 5.33% (95% CI: 5.23, 5.44%) of respondents in SSA had delivered preterm baby. Being form eastern Africa, southern Africa, rural area, being educated, substance use, having multiple pregnancy, currently working history, having history of terminated pregnancy, and previous cesarean section delivery, primi-parity, and short birth interval were associated with higher odds of preterm birth among reproductive aged women. However, having better wealth index, being married, wanted pregnancy, and having four or more antenatal care visit were associated with lower odds for a preterm birth among reproductive aged women. Conclusion The prevalence of preterm birth among reproductive-aged women remains a major public health problem in SSA. Preterm birth was affected by various socio-economic and obstetrical factors. Therefore, it is better to consider the high-risk groups during intervention to prevent the short-term and long-term consequences of preterm birth.