Wid H. Daghustani, Eid G. Abo Hamza, Eid G. Abo Hamza
et al.
This review investigates the relationship between autism, vulnerability to bullying, and the impact of bullying on mental health for this cohort. Neurotypical social mores can be exclusionary, creating social risks for autistic people, while differences in communication and social engagement can impact peer-to-peer interaction, making autistic people more vulnerable to bullying and social discrimination. The current systematic review investigates risk factors related to the bullying of autistic people, considering both societal and individual factors. Our PRIMA guided search reported 74 studies. Our results show that the prevalence of bullying of autistic individuals vary across studies, autistic individuals face verbal, social, and physical bullying, and that bullying was found to lead to the development of depression, anxiety, and social withdrawal. The importance of education, creating inclusive environments, building resilience, collaborative efforts, policy and legislation, mental health support, and prevention and protection implications, are discussed. By implementing these strategies, we can work to reduce vulnerability to bullying in autistic people as well as promote their overall well-being. This review emphasises the importance of comprehensive interventions and support systems in combating bullying and improving the lives of autistic people.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek
et al.
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation. While the disorder presents with primarily neurological symptoms, there is limited knowledge about the specific brain-related changes caused by PMM2 deficiency. Here, we demonstrate aberrant neural activity in 2D neuronal networks from PMM2-CDG individuals. Utilizing multi-omics datasets from 3D human cortical organoids (hCOs) derived from PMM2-CDG individuals, we identify widespread decreases in protein glycosylation, highlighting impaired glycosylation as a key pathological feature of PMM2-CDG, as well as impaired mitochondrial structure and abnormal glucose metabolism in PMM2-deficient hCOs, indicating disturbances in energy metabolism. Correlation between PMM2 enzymatic activity in hCOs and symptom severity suggests that the level of PMM2 enzyme function directly influences neurological manifestations. These findings enhance our understanding of specific brain-related perturbations associated with PMM2-CDG, offering insights into the underlying mechanisms and potential directions for therapeutic interventions.
Sandra Carrera-Juliá, José M. Estrela, Mario Zacarés
et al.
Amyotrophic Lateral Sclerosis (ALS) is a chronic and progressive neurodegenerative disease that causes the death of motor neurons and alters patients’ body composition. Supplementation with the antioxidants nicotinamide riboside (NR) and pterostilbene (PTER) can combat associated oxidative stress. Additionally, coconut oil is an alternative energy substrate that can address mitochondrial dysfunction. The aim of the present study is to assess the impact of a Mediterranean Diet supplemented with NR and PTER and/or with coconut oil on the anthropometric variables of patients with ALS. A prospective, mixed, randomized, analytical and experimental pilot study in humans was performed through a clinical trial (registered with ClinicalTrials.gov under number NCT03489200) with pre- and post-intervention assessments. The sample was made up of 40 subjects categorized into four study groups (Control, Antioxidants, Coconut oil, and Antioxidants + Coconut oil). Pre- and post-intervention anthropometric assessments were carried out to determine the following data: weight, percentage of fat and muscle mass, skinfolds, body perimeters, Body Mass Index (BMI), Waste-to-Hip Index (WHI) and Waist-Height Ratio (WHR). Compared to the Control group, GAx significantly increased muscle mass percentage and decreased fat mass percentage, triceps, iliac crest, and abdominal skinfolds. GCoco significantly increased muscle mass percentage and decreased fat mass percentage, subscapular skinfolds, and abdominal skinfolds. GAx + coco significantly increased muscle mass percentage and decreased abdominal skinfolds. Therefore, our results suggest that the Mediterranean Diet supplemented with NR and PTER and the Mediterranean Diet supplemented with coconut oil (ketogenic diet) are the two nutritional interventions that have reported the greatest benefits, at anthropometric level.
Adil Mohammed Hashim, Sawsam Jaseim Al-Harbi, Mariam Mohammed Burhan
et al.
Hypothyroidism is a disorder in which the thyroid gland does not generate enough thyroid hormone to keep the body operating correctly. Low thyroid hormone levels make it difficult for cells in the body to acquire enough thyroid hormone, causing the body's processes to slow down. There are various reasons why autoimmune illness and radiation therapy are so prevalent. Thyroiditis is caused by too much or too little iodine. Because lipids are hydrophobic (insoluble in water), they cannot transport fats like cholesterol, phospholipids, and triglycerides through the bloodstream on their own. Instead, they bind to proteins to produce lipoproteins, which carry fats such as cholesterol triglycerides, and phospholipids throughout the body. The EIA technique was utilized to assess the levels of triiodothyronine (T3), thyroxin (T4) and thyroid-stimulating hormone (TSH) in 25 patients and 25 healthy people in this study. The study found that hypothyroidism patients have higher TSH levels than healthy controls, while their T3 and T4 levels are lower than healthy controls. There is also a considerable rise when hypothyroidism patients were compared to healthy controls, there was a significant increase in the mean levels of all lipids except for high-density lipoprotein (HDL). We concluded that the TSH levels in hypothyroidism patients were significantly higher than in the control group, in addition, these patients have an abnormal lipid profile, with significantly higher levels of TC, TG, LDL, and VLDL.Atherosclerosis can result as a result of this. Because it carries cholesterol and other lipids from artery walls to the liver, it is known as a lipid transporter. HDL is known as the "good" cholesterol. A greater HDL level is linked to a lower risk of atherosclerosis. [ J Adv Biotechnol Exp Ther 2023; 6(1.000): 9-16]
Dilber Uzun Ozsahin, Efe Precious Onakpojeruo, Berna Uzun
et al.
The brain is an intrinsic and complicated component of human anatomy. It is a collection of connective tissues and nerve cells that regulate the principal actions of the entire body. Brain tumor cancer is a serious mortality factor and a highly intractable disease. Even though brain tumors are not considered a fundamental cause of cancer deaths worldwide, about 40% of other cancer types are metastasized to the brain and transform into brain tumors. Computer-aided devices for diagnosis through magnetic resonance imaging (MRI) have remained the gold standard for the diagnosis of brain tumors, but this conventional method has been greatly challenged with inefficiencies and drawbacks related to the late detection of brain tumors, high risk in biopsy procedures, and low specificity. To circumvent these underlying hurdles, machine learning models have recently been developed to enhance computer-aided diagnosis tools for advanced, precise, and automatic early detection of brain tumors. This study takes a novel approach to evaluate machine learning models (support vector machine (SVM), random forest (RF), gradient-boosting model (GBM), convolutional neural network (CNN), K-nearest neighbor (KNN), AlexNet, GoogLeNet, CNN VGG19, and CapsNet) used for the early detection and classification of brain tumors by deploying the multicriteria decision-making method called fuzzy preference ranking organization method for enrichment evaluations (PROMETHEE), based on selected parameters, in this study: prediction accuracy, precision, specificity, recall, processing time, and sensitivity. To validate the results of our proposed approach, we performed a sensitivity analysis and cross-checking analysis with the PROMETHEE model. The CNN model, with an outranking net flow of 0.0251, is considered the most favorable model for the early detection of brain tumors. The KNN model, with a net flow of −0.0154, is the least appealing option. The findings of this study support the applicability of the proposed approach for making optimal choices regarding the selection of machine learning models. The decision maker is thus afforded the opportunity to expand the range of considerations which they must rely on in selecting the preferred models for early detection of brain tumors.
Apolipoprotein E (APOE) gene encodes three protein isoforms (APOEε-22/ε-33/ε-44), which governs the transportation and metabolism of lipoproteins differently. While abnormalities in lipid and lipoprotein metabolism have been identified as risk factors for type 2 diabetes mellitus (T2DM). APOE gene polymorphisms might be correlated with increased risk of T2DM. Therefore, we presented an iPSC line harboring an APOE-ε3/ε3 alleles, a male donor suffering from T2DM combined with Hypertension. The derived iPSCs showed pluripotency, the capacity to differentiate into three germ layers, and normal karyotypes. Collectively, the present study provides a useful resource to reveal the associated mechanism of APOE isoform and T2DM.
Laura M. Garcia, Daniel A. Hubbard, Nova B. Mebane
et al.
Purpose: The organs of the foregut are supplied by the celiac trunk, which branches into the common hepatic artery, splenic artery, and left gastric artery. The common hepatic artery further divides into the proper hepatic and the gastroduodenal arteries. The superior mesenteric artery usually supplies midgut components. Here we document a novel variation of the vascular supply of the liver that involves branches of both the celiac trunk and superior mesenteric artery. Methods: Routine cadaveric dissection of a 63-year-old white male. Results: In this case, the proper hepatic artery emerged from the superior mesenteric artery, and gastroduodenal artery branched directly off of the celiac trunk. At the hilum, the proper hepatic artery bifurcated to left and right hepatic arteries. Additionally, an accessory left hepatic artery was present branching from the left gastric artery. Conclusions: This combination of variants in the hepatic foregut vasculature has not been previously reported in the literature. Knowledge of published anatomical variations reinforces the benefit for pre-surgical imaging utilizing computed tomography angiography to improve surgical outcomes and enhance patient safety.
Johan Francois van der Merwe, Lourens Jacobus Erasmus, Werner van der Merwe
et al.
Background: The use of transacetabular screws aid greatly in attaining acetabular component stability during acetabular revision surgery. There are, however, definite risks involved when using this technique. Inserting screws in the posterior superior safe zone has been advocated as a way to do this safely, but recent studies have shown that this does not hold true in conditions where acetabular anatomy is distorted or where the hip centre of rotation has moved. A method to insert these screws more accurately and safely is proposed. Questions/Purposes: (1) Can using the greater sciatic notch as reference point when inserting transacetabular screws for revision acetabular cups ensure accurate and safe placement of screws? (2) How does this proposed new method compare with the posterior superior safe zone method? Methods: With the use of an observational anatomic study we have developed a new method for the insertion of long transacetabular screws. This method uses the greater sciatic notch as a reference point. Our method was tested on 16 cadaveric hips (reamed to simulate revision conditions) and compared to the safe zone method. Results: Our method achieved placement of 1–3 screws in the target area in all hips without penetration into the pelvis or sciatic notch. With the use of the safe zone only as reference the pelvis was penetrated 7 times and the sciatic notch twice. Conclusion: Using the greater sciatic notch as a reference guide enables the surgeon to engage a supportive bar of bone for one or more long home run screws whilst minimizing penetration of the pelvis and sciatic notch. In this study our method was superior to using the safe zone in isolation.
Philip Mwachaka, Angela Amayo, Nimrod Mwang’ombe
et al.
Background: Secondary brain insults after traumatic brain injury such as electrolyte dysfunctions are associated with poor outcomes. This study aimed at determining the incidence of serum sodium ion abnormalities and their association with clinico-radiological parameters. Methods: A prospective cross-sectional study of one hundred and seventeen patients with severe head injury. Data collected included patient demographics, prehospital interventions, clinical examination findings, computed tomography (CT) scan head findings, serum sodium ion levels (at admission and 48 h later), and outcome (30 days). Results: At admission, 93(79.5%) patients had normal serum sodium ion levels. However, 48 h post-admission, hypernatremia was prevalent in 56(63.6%) patients (p < 0.001). Hypernatremia was significantly associated with the use of mannitol (p = 0.036), lower Glasgow Coma Score (p = 0.047), higher Injury Severity Score (p = 0.015), presence of subdural hematoma (p = 0.044), midline shift >5 mm (p = 0.048), compressed/absent basal cistern (p = 0.010), and higher Rotterdam CT Score (p = 0.003). Hypernatremia reported 48 h post-admission was associated with a high 30-day mortality rate [odds ratio (OR) 3.55, p = 0.0095]. Risk of mortality associated with hyponatremia and hypernatremia at admission was not statistically significant. Conclusion: While both hyponatremia and hypernatremia can occur in serious TBI patients, hypernatremia predominates 48 hours post-admission and is associated with statistically significant increased risk of death.
Daniel E. Brown, Peter T. Katzmarzyk, Lincoln A. Gotshalk
Background: Obesity, particularly in Native Hawaiians, is an important health risk. A possible contributing factor to obesity is reduced physical activity levels. Aim: This study investigates the relationship between measured levels of physical activity and body composition in two grade cohorts of school children of Native Hawaiian/Pacific Islander (NHPI) and non-NHPI ethnicity. Methods: A sample of 105 Kindergarteners and third graders were measured for adiposity, physical fitness, and physical activity levels. Ethnicity was determined from genealogical surveys. BMI, waist circumference (WC) and body fat percentage derived from air displacement plethysmography were used to evaluate adiposity. Maximal oxygen consumption (VO2max/kg) was estimated and total energy expenditure (TEE), physical activity level (PAL) and percentage of time inactive (PTI) were determined using the Flex-heart rate method. Results: VO2max, but not TEE, PAL or PTI, was significantly correlated with BMI in Kindergarteners; while VO2max and PAL were negatively correlated with BMI, PAL was significantly negatively correlated with WC and PTI was positively correlated with fat percentage among third graders. There were no significant ethnic differences in VO2max, TEE, PAL or PTI. Conclusions: PAL and PTI are moderately related to adiposity measures, and there are no ethnic differences in physical activity or fitness measures in this sample.
Yuhei Hamaguchi, Toshimi Kaido, Shinya Okumura
et al.
Abstract Background The significance of pre‐operative body composition has recently attracted much attention in various diseases. However, cut‐off values for these parameters remain undetermined, and these factors are not currently included in selection criteria for recipients of living donor liver transplantation (LDLT). Methods Using computed tomography of 657 donors for LDLT, skeletal muscle mass, muscle quality, and visceral adiposity were evaluated by using skeletal muscle mass index (SMI), intramuscular adipose tissue content (IMAC), and visceral‐to‐subcutaneous adipose tissue area ratio (VSR). Sex‐specific cut‐offs for SMI, IMAC, and VSR were determined, and correlations with outcomes after LDLT in 277 recipients were examined with the aim of establishing new selection criteria for LDLT. Results On the basis of younger donor data, we determined sex‐specific cut‐off values for low SMI, high IMAC, and high VSR (mean ± 2 standard deviations). Patients with all three factors showed the lowest survival rate after LDLT (1 year survival rate, 41.2%; P < 0.001). On multivariate analysis, low SMI (P = 0.002), high IMAC (P = 0.002), and high VSR (P = 0.001) were identified as independent risk factors for mortality after LDLT. Based on these findings, we have excluded patients showing all three factors (low SMI, high IMAC, and high VSR) as candidates for LDLT since October 2016. Conclusions Using cut‐off values determined from healthy donors, we have established new selection criteria for LDLT including body composition, which should improve post‐transplant outcomes.
Diseases of the musculoskeletal system, Human anatomy
Abstract Background Loss of muscle mass and strength are important sequelae of chronic disease, but the response of individuals is remarkably variable, suggesting important genetic and epigenetic modulators of muscle homeostasis. Such factors are likely to modify the activity of pathways that regulate wasting, but to date, few such factors have been identified. Methods The effect of miR‐422a on SMAD4 expression and transforming growth factor (TGF)‐β signalling were determined by western blotting and luciferase assay. miRNA expression was determined by qPCR in plasma and muscle biopsy samples from a cross‐sectional study of patients with chronic obstructive pulmonary disease (COPD) and a longitudinal study of patients undergoing aortic surgery, who were subsequently admitted to the intensive care unit (ICU). Results miR‐422a was identified, by a screen, as a microRNA that was present in the plasma of patients with COPD and negatively associated with muscle strength as well as being readily detectable in the muscle of patients. In vitro, miR‐422a suppressed SMAD4 expression and inhibited TGF‐beta and bone morphogenetic protein‐dependent luciferase activity in muscle cells. In male patients with COPD and those undergoing aortic surgery and on the ICU, a model of ICU‐associated muscle weakness, quadriceps expression of miR‐422a was positively associated with muscle strength (maximal voluntary contraction r = 0.59, P < 0.001 and r = 0.51, P = 0.004, for COPD and aortic surgery, respectively). Furthermore, pre‐surgery levels of miR‐422a were inversely associated with the amount of muscle that would be lost in the first post‐operative week (r = −0.57, P < 0.001). Conclusions These data suggest that differences in miR‐422a expression contribute to the susceptibility to muscle wasting associated with chronic and acute disease and that at least part of this activity may be mediated by reduced TGF‐beta signalling in skeletal muscle.
Diseases of the musculoskeletal system, Human anatomy
Filippo S. Giorgi, Larisa Ryskalin, Riccardo Ruffoli
et al.
Alzheimer’s Disease (AD) features the accumulation of β-amyloid and Tau aggregates, which deposit as extracellular plaques and intracellular neurofibrillary tangles (NFTs), respectively. Neuronal Tau aggregates may appear early in life, in the absence of clinical symptoms. This occurs in the brainstem reticular formation and mostly within Locus Coeruleus (LC), which is consistently affected during AD. LC is the main source of forebrain norepinephrine (NE) and it modulates a variety of functions including sleep-waking cycle, alertness, synaptic plasticity, and memory. The iso-dendritic nature of LC neurons allows their axons to spread NE throughout the whole forebrain. Likewise, a prion-like hypothesis suggests that Tau aggregates may travel along LC axons to reach out cortical neurons. Despite this timing is compatible with cross-sectional studies, there is no actual evidence for a causal relationship between these events. In the present mini-review, we dedicate special emphasis to those various mechanisms that may link degeneration of LC neurons to the onset of AD pathology. This includes the hypothesis that a damage to LC neurons contributes to the onset of dementia due to a loss of neuroprotective effects or, even the chance that, LC degenerates independently from cortical pathology. At the same time, since LC neurons are lost in a variety of neuropsychiatric disorders we considered which molecular mechanism may render these brainstem neurons so vulnerable.
Neurosciences. Biological psychiatry. Neuropsychiatry, Human anatomy
Giovanni Tomasello, Margherita Mazzola, Angelo Leone
et al.
Background: Microbiota refers to the population of microorganisms (bacteria, viruses and fungi) that inhabit the entire gastrointestinal tract, more particularly the colon whose role is to maintain the integrity of the intestinal mucosa and control the proliferation of pathogenic bacteria. Alteration in the composition of the gut microbiota is called dysbiosis. Dysbiosis redisposes to inflammatory bowel diseases such as ulcerative colitis, Crohn disease and indeterminate colitis. Methods: The purpose of this literature review is to elucidate the influence of diet on the composition of the gastrointestinal microbiota in the healthy gut and the role of diet in the development of dysbiosis. Conclusion: The "Western diet", in particular a low - fiber high fat/high carbohydrate diet is one factor that can lead to severe dysbiosis. In contrast, "mediterranean" and vegetarian diets that includes abundant fruits, vegetables, olive oil and oily fish are known for their anti-inflammatory effects and could prevent dysbiosis and subsequent inflammatory bowel disease.
This is a review of thermal imaging methods used for the measurement of body surface temperatures, including the most important medical applications, papers on thermal maps of people with various body compositions, and the applicability of thermal imaging in sport training.
Background and aim : Thyroid surgery being a major surgery & quite often performed, a thorough knowledge of variations in arterial supply is very essential for surgeons to prevent alarming number of table deaths in patients with thyroid disease due to excessive and uncontrollable bleeding. It also helps the physicians for proper physical examination and treatment of the patient and to the anatomists for learning the variant patterns. Materials & methods: Fifty five adult human cadavers(45 males, 10 females)aged between 25 to 50 years and 25 foetuses (18 female,7 male) aged between 24 to 34 weeks were studied by gross dissection. Results: The inferior thyroid artery was found to be absent in 5% of cases. The level of branching of inferior thyroid artery was also studied where in 23.1% of cases the artery divides before piercing the surgical capsule of thyroid gland and in 76.97%, it divided after piercing the surgical capsule.The relationship of the artery to the recurrent laryngeal nerve was also studied where in 52.6% of cases, either the artery or its branches were anterior to the nerve, in 26.3% of cases the artery or its branches were posterior to the recurrent laryngeal nerve and in 21.1 % of cases the nerve was intermingled with the branches of artery. Conclusion: From the present study it is concluded that the knowledge of variation of the arterial supply can be used during thyroidectomy where in ligation of all the thyroid vessels is highly essential to ensure proper homeostasis.