Search results for: metabolic bone diseases

Authors: Sonia A. Stoica, Lexi Frankel, Amalia Ardeljan, Selena Rashid, Ali Yasback, Omar Rashid

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Introduction Enterococcus is a vast genus of lactic acid bacteria, gram-positivecocci species. They are common commensal organisms in the intestines of humans: E. faecalis (90–95%) and E. faecium (5–10%). Rare groups of infections can occur with other species, including E. casseliflavus, E. gallinarum, and E. raffinosus. The most common infections caused by Enterococcus include urinary tract infections, biliary tract infections, subacute endocarditis, diverticulitis, meningitis, septicemia, and spontaneous bacterial peritonitis. The treatment for sensitive strains of these bacteria includes ampicillin, penicillin, cephalosporins, or vancomycin, while the treatment for resistant strains includes daptomycin, linezolid, tygecycline, or streptogramine. Enterococcus faecalis CECT7121 is an encouraging nominee for being considered as a probiotic strain. E. faecalis CECT7121 enhances and skews the profile of cytokines to the Th1 phenotype in situations such as vaccination, anti-tumoral immunity, and allergic reactions. It also enhances the secretion of high levels of IL-12, IL-6, TNF alpha, and IL-10. Cytokines have been previously associated with the development of cancer. The intention of this study was to therefore evaluate the correlation between Enterococcus infections and incidence of bone carcinoma. Methods A retrospective cohort study (2010-2019) was conducted through a Health Insurance Portability and Accountability Act (HIPAA) compliant national database and conducted using International Classification of Disease (ICD) 9th and 10th codes for bone carcinoma diagnosis in a previously Enterococcus infected population. Patients were matched for age range and Charlson Comorbidity Index (CCI). Access to the database was granted by Holy Cross Health for academic research. Chi-squared test was used to assess statistical significance. Results A total number of 17,056 patients was obtained in Enterococcus infected group as well as in the control population (matched by Age range and CCI score). Subsequent bone carcinoma development was seen at a rate of 1.07% (184) in the Enterococcal infectious group and 3.42% (584) in the control group, respectively. The difference was statistically significant by p= 2.2x10-¹⁶, Odds Ratio = 0.355 (95% CI 0.311 - 0.404) Treatment for enterococcus infection was analyzed and controlled for in both enterococcus infected and noninfected populations. 78 out of 6,624 (1.17%) patients with a prior enterococcus infection and treated with antibiotics were compared to 202 out of 6,624 (3.04%) patients with no history of enterococcus infection (control) and received antibiotic treatment. Both populations subsequently developed bone carcinoma. Results remained statistically significant (p<2.2x10-), Odds Ratio=0.456 (95% CI 0.396-0.525). Conclusion This study shows a statistically significant correlation between Enterococcus infection and a decreased incidence of bone carcinoma. The immunologic response of the organism to Enterococcus infection may exert a protecting mechanism from developing bone carcinoma. Further exploration is needed to identify the potential mechanism of Enterococcus in reducing bone carcinoma incidence.

Keywords: anti-tumoral immunity, bone carcinoma, enterococcus, immunologic response

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Authors: Nicole Pearcy, Jonathan J. Crofts, Nadia Chuzhanova

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In this paper, we employ a directed hypergraph model to investigate the extent to which environmental variability influences the set of available biochemical reactions within a living cell. Such an approach avoids the limitations of the usual complex network formalism by allowing for the multilateral relationships (i.e. connections involving more than two nodes) that naturally occur within many biological processes. More specifically, we extend the concept of network reciprocity to complex hyper-networks, thus enabling us to characterize a network in terms of the existence of mutual hyper-connections, which may be considered a proxy for metabolic network complexity. To demonstrate these ideas, we study 115 metabolic hyper-networks of bacteria, each of which can be classified into one of 6 increasingly varied habitats. In particular, we found that reciprocity increases significantly with increased environmental variability, supporting the view that organism adaptability leads to increased complexities in the resultant biochemical networks.

Keywords: complexity, hypergraphs, reciprocity, metabolism

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Authors: Chiara Della Rocca, Gavino Piras, Andrea Berti, Alessandro Mameli

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DNA identification of human skeletal remains plays a valuable role in the forensic field, especially in missing persons and mass disaster investigations. Hard tissues, such as bones and teeth, represent a very common kind of samples analyzed in forensic laboratories because they are often the only biological materials remaining. However, the major limitation of using these compact samples relies on the extremely time–consuming and labor–intensive treatment of grinding them into powder before proceeding with the conventional DNA purification and extraction step. In this context, a DNA extraction assay called the TBone Ex kit (DNA Chip Research Inc.) was developed to digest bone chips without powdering. Here, we simultaneously analyzed bone and tooth samples that arrived at our police laboratory and belonged to 15 different forensic casework that occurred in Sardinia (Italy). A total of 27 samples were recovered from different scenarios and were exposed to extreme environmental factors, including sunlight, seawater, soil, fauna, vegetation, and high temperature and humidity. The TBone Ex kit was used prior to the EZ2 DNA extraction kit on the EZ2 Connect Fx instrument (Qiagen), and high-quality autosomal and Y-chromosome STRs profiles were obtained for the 80% of the caseworks in an extremely short time frame. This study provides additional support for the use of the TBone Ex kit for digesting bone fragments/whole teeth as an effective alternative to pulverization protocols. We empirically demonstrated the effectiveness of the kit in processing multiple bone samples simultaneously, largely simplifying the DNA extraction procedure and the good yield of recovered DNA for downstream genetic typing in highly compromised forensic real specimens. In conclusion, this study turns out to be extremely useful for forensic laboratories, to which the various actors of the criminal justice system – such as potential jury members, judges, defense attorneys, and prosecutors – required immediate feedback.

Keywords: DNA, skeletal remains, bones, tbone ex kit, extreme conditions

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Authors: Ferdi Afian, Inne Yuliawati

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Background: The change in causes of death from infectious diseases to non-communicable diseases also occurs in the aviation community in Indonesia. Non-communicable diseases are influenced by several internal risk factors, such as age, lifestyle changes and the presence of other diseases. These risk factors will increase the incidence of heart diseases resulting in the incapacity of Indonesian aviators which will disrupt flight safety. Method: The study was conducted by collecting secondary data. The retrieval of primary data was obtained from medical records at the Indonesian Aviation Health Center in 2016-2017. The subjects in this study were all cases of incapacity in Indonesian aviators medical conditions. Results: In this study, there were 15 cases of aviators in Indonesia who experienced incapacity of medical conditions related to heart and lung diseases in 2016-2017. Based on the secondary data contained in the flight medical records at the Aviation Health Center Aviation, it was found that several factors related to aviators incapacity causing its inability to carried out flight duties. Conclusion: Incapacity of Indonesian aviators medical conditions are most affected by the high value of Body Mass Index (86%) and less affected by high of Uric Acid in the blood (26%) and Hyperglycemia (26%).

Keywords: incapacity, aviators, flight, Indonesia

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Authors: Mohammed A. Alshehri

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Salvia officinalis is an aromatic plant member of the mint (Labiatae) family. It is popular kitchen herb. Not surprise to find that the name of this herb related to cure, in Latin language Salvia means to cure where officinalis means medicinal which answer why the sage has a top place in the list of medicinal plants. The aim of the present study was to assess the genetic damage and cytological changes caused by exposure of the test organism (Rattusrattus) to Salvia officinals. For this purpose, adult female rats, weighing 200–250 g, were used as donors. A total of 36 adult Wister male rats were randomly assigned to five groups: the experimental groups (rats were intraperitonealy injected with Salvia officinalis pure extract at (0.1, 0.2, 0.5, 0.1mg/kg body weight, the same dose was administered once a day. Control group (rats were injected intraperitonealy physiological saline. And positive control were injected with Cyclophosphamide. On the 21st days following Salvia officinalis pure extract exposure, rats were sacrificed, and samples of bone marrow were collected. Following that, we performed a micronuclei (MN) test using MNNCE (Micro-nucleated normocromatic erythrocytes) and MNPCE (Micronucleated polychromatic erythrocytes), NDI (Nuclear division index), and cytological parameters using NDCI (nuclear division cytotoxicity index), necrotic, and apoptotic cells in rat's bone marrow samples. Results showed that there was a no significant increase in the frequency of micro-nucleatedas well as in cytological parameters in bone marrow cells. In light of these results, if Salvia officinalis pure extract may considered to be safe from the stand point of genotoxicity and cytotoxicity effects.

Keywords: Salvia officinalis, micronucleus, NDI, NDCI, toxicity, chromosomal aberrations

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Authors: Abdulsalam A. Al-Tamimi, Chris Peach, Paulo Rui Fernandes, Paulo J. Bartolo

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Bone fixation implants currently used to treat traumatic fractured bones and to promote fracture healing are built with biocompatible metallic materials such as stainless steel, cobalt chromium and titanium and its alloys (e.g., CoCrMo and Ti6Al4V). The noticeable stiffness mismatch between current metallic implants and host bone associates with negative outcomes such as stress shielding which causes bone loss and implant loosening leading to deficient fracture treatment. This paper, part of a major research program to design the next generation of bone fixation implants, describes the combined use of three-dimensional (3D) topology optimization (TO) and additive manufacturing powder bed technology (Electron Beam Melting) to redesign and fabricate the plates based on the current standard one (i.e., locking compression plate). Topology optimization is applied with an objective function to maximize the stiffness and constraint by volume reductions (i.e., 25-75%) in order to obtain optimized implant designs with reduced stress shielding phenomenon, under different boundary conditions (i.e., tension, bending, torsion and combined loads). The stiffness of the original and optimised plates are assessed through a finite-element study. The TO results showed actual reduction in the stiffness for most of the plates due to the critical values of volume reduction. Additionally, the optimized plates fabricated using powder bed techniques proved that the integration between the TO and additive manufacturing presents the capability of producing stiff reduced plates with acceptable tolerances.

Keywords: additive manufacturing, locking compression plate, finite element, topology optimization

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Authors: Patricia Shirley Almeida Prado, Liz Brito, Selma Paixão Argollo, Gracie Moreira, Leticia Matos Sobrinho

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Diffuse idiopathic skeletal hyperostosis (DISH) is a degenerative bone disease also known as Forestier´s disease and ankylosing hyperostosis of the spine is characterized by a tendency toward ossification of half the anterior longitudinal spinal ligament without intervertebral disc disease. DISH is not considered to be osteoarthritis, although the two conditions commonly occur together. Diagnostic criteria include fusion of at least four vertebrae by bony bridges arising from the anterolateral aspect of the vertebral bodies. These vertebral bodies have a 'dripping candle wax' appearance, also can be seen periosteal new bone formation on the anterior surface of the vertebral bodies and there is no ankylosis at zygoapophyseal facet joint. Clinically, patients with DISH tend to be asymptomatic some patients mention moderate pain and stiffness in upper back. This disease is more common in man, uncommon in patients younger than 50 years and rare in patients under 40 years old. In modern populations, DISH is found in association with obesity, (type II) diabetes; abnormal vitamin A metabolism and also associated with higher levels of serum uric acid. There is also some association between the increase of risk of stroke or other cerebrovascular disease. The DISH condition can be confused with Heterotopic Ossification, what is the bone formation in the soft tissues as the result of trauma, wounding, surgery, burnings, prolonged immobility and some central nervous system disorder. All these conditions have been described extensively as myositis ossificans which can be confused with the fibrodysplasia (myositis) ossificans progressive. As in the DISH symptomatology it can be asymptomatic or extensive enough to impair joint function. A third confusion osteoarthritis disease that can bring confusion are the enthesopathies that occur in the entire skeleton being common on the ischial tuberosities, iliac crests, patellae, and calcaneus. Ankylosis of the sacroiliac joint by bony bridges may also be found. CASE 1: this case is skeletal remains presenting skull, some vertebrae and scapulae. This case remains unidentified and due to lack of bone remains. Sex, age and ancestry profile was compromised, however the DISH pathognomonic findings and diagnostic helps to estimate sex and age characteristics. Moreover to presenting DISH these skeletal remains also showed some bone alterations and non-metrics as fusion of the first vertebrae with occipital bone, maxillae and palatine torus and scapular foramen on the right scapulae. CASE 2: this skeleton remains shows an extensive bone heterotopic ossification on the great trochanter area of left femur, right fibula showed a healed fracture in its body however in its inteosseous crest there is an extensive bone growth, also in the Ilium at the region of inferior gluteal line can be observed some pronounced bone growth and the skull presented a pronounced mandibular, maxillary and palatine torus. Despite all these pronounced heterotopic ossification the whole skeleton presents moderate bone overgrowth that is not linked with aging, since the skeleton belongs to a young unidentified individual. The appropriate osteopathological diagnosis support the human identification process through medical reports and also assist with epidemiological data that can strengthen vulnerable anthropological estimates.

Keywords: bone disease, DISH, human identification, human remains

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Authors: Mustafa Metin Donma, Orkide Donma

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Vitamin deficiencies are common in obese individuals. Particularly, the status of vitamin B12 and its association with vitamin B9 (folate) and vitamin D is under investigation in recent time. Vitamin B12 is closely related to many vital processes in the body. In clinical studies, its involvement in fat metabolism draws attention from the obesity point of view. Obesity, in its advanced stages and in combination with metabolic syndrome (MetS) findings, may be a life-threatening health problem. Pediatric obesity is particularly important because it may be a predictor of severe chronic diseases during the adulthood period of the child. Due to its role in fat metabolism, vitamin B12 deficiency may disrupt metabolic pathways of the lipid and energy metabolisms in the body. The association of low B12 levels with obesity degree may be an interesting topic to be investigated. Obesity indices may be helpful at this point. Weight- and fat-based indices are available. Of them, body mass index (BMI) is in the first group. Fat mass index (FMI), fat-free mass index (FFMI) and diagnostic obesity notation model assessment-II (D2I) index lie in the latter group. The aim of this study is to clarify possible associations between vitamin B12 status and obesity indices in the pediatric population. The study comprises a total of one hundred and twenty-two children. Thirty-two children were included in the normal body mass index (N-BMI) group. Forty-six and forty-four children constitute groups with morbid obese children without MetS and with MetS, respectively. Informed consent forms and the approval of the institutional ethics committee were obtained. Tables prepared for obesity classification by World Health Organization were used. Metabolic syndrome criteria were defined. Anthropometric and blood pressure measurements were taken. Body mass index, FMI, FFMI, D2I were calculated. Routine laboratory tests were performed. Vitamin B9, B12, D concentrations were determined. Statistical evaluation of the study data was performed. Vitamin B9 and vitamin D levels were reduced in MetS group compared to children with N-BMI (p>0.05). Significantly lower values were observed in vitamin B12 concentrations of MetS group (p<0.01). Upon evaluation of blood pressure as well as triglyceride levels, there exist significant increases in morbid obese children. Significantly decreased concentrations of high density lipoprotein cholesterol were observed. All of the obesity indices and insulin resistance index exhibit increasing tendency with the severity of obesity. Inverse correlations were calculated between vitamin D and insulin resistance index as well as vitamin B12 and D2I in morbid obese groups. In conclusion, a fat-based index, D2I, was the most prominent body index, which shows a strong correlation with vitamin B12 concentrations in the late stage of obesity in children. A negative correlation between these two parameters was a confirmative finding related to the association between vitamin B12 and obesity degree.

Keywords: body mass index, children, D2I index, fat mass index, obesity

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Authors: Fakhrosadat Sajjadian

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The majority of deaths in cancer patients are caused by distant metastasis. Breast cancer shows a unique spread pattern, often affecting bone, liver, lung, and brain. Breast cancer can be categorized into various subtypes according to gene expression patterns, and these subtypes exhibit specific preferences for organs where metastasis occurs. Breast tumors with luminal characteristics have a preference for spreading to the bone, whereas basal-like breast cancer (BLBC) shows a tendency to metastasize to the lungs. Still, the mechanisms behind this particular pattern of metastasis in organs have yet to be fully understood. In this evaluation, we will outline the latest progress in molecular signaling pathways and treatment methods for breast cancer lung metastasis.

Keywords: lung cancer, liver cancer, diagnosis, BLBC, metastasis

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Authors: Maria Lopez-Ibarra, Ana Velazquez-Wong, Lucelli Yañez-Gutierrez, Maria Araujo-Solis, Fabio Salamanca-Gomez, Alfonso Mendez-Tenorio, Haydeé Rosas-Vargas

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Congenital heart diseases (CHD) are the most common congenital abnormalities. These conditions can occur as both an element of distinct chromosomal malformation syndromes or as non-syndromic forms. Their etiology is not fully understood. Genetic variants such copy number variants have been associated with CHD. The aim of our study was to analyze these genomic variants in peripheral blood from Mexican children diagnosed with non-syndromic CHD. We included 16 children with atrial and ventricular septal defects and 5 healthy subjects without heart malformations as controls. To exclude the most common heart disease-associated syndrome alteration, we performed a fluorescence in situ hybridization test to identify the 22q11.2, responsible for congenital heart abnormalities associated with Di-George Syndrome. Then, a microarray based comparative genomic hybridization was used to identify global copy number variants. The identification of copy number variants resulted from the comparison and analysis between our results and data from main genetic variation databases. We identified copy number variants gain in three chromosomes regions from pediatric patients, 4q13.2 (31.25%), 9q34.3 (25%) and 20q13.33 (50%), where several genes associated with cellular, biosynthetic, and metabolic processes are located, UGT2B15, UGT2B17, SNAPC4, SDCCAG3, PMPCA, INPP6E, C9orf163, NOTCH1, C20orf166, and SLCO4A1. In addition, after a hierarchical cluster analysis based on the fluorescence intensity ratios from the comparative genomic hybridization, two congenital heart disease groups were generated corresponding to children with atrial or ventricular septal defects. Further analysis with a larger sample size is needed to corroborate these copy number variants as possible biomarkers to differentiate between heart abnormalities. Interestingly, the 20q13.33 gain was present in 50% of children with these CHD which could suggest that alterations in both coding and non-coding elements within this chromosomal region may play an important role in distinct heart conditions.

Keywords: aCGH, bioinformatics, congenital heart diseases, copy number variants, fluorescence in situ hybridization

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Authors: Franck Acho

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This is a chronic metabolic disorder which is a fast-growing global problem with a huge social, health, and economic consequences. It is estimated that in 2010 there were globally 285 million people (approximately 6.4% of the adult population) suffering from this disease. This number is estimated to increase to 430 million in the absence of better control or cure. An ageing population and obesity are two main reasons for the increase. Diabetes mellitus is a chronic heterogeneous metabolic disorder with a complex pathogenesis. It is characterized by elevated blood glucose levels or hyperglycemia, which results from abnormalities in either insulin secretion or insulin action or both. Hyperglycemia manifests in various forms with a varied presentation and results in carbohydrate, fat, and protein metabolic dysfunctions. Long-term hyperglycemia often leads to various microvascular and macrovascular diabetic complications, which are mainly responsible for diabetes-associated morbidity and mortality. Hyperglycemia serves as the primary biomarker for the diagnosis of diabetes as well. Furthermore, it has been shown that almost 50% of the putative diabetics are not diagnosed until 10 years after onset of the disease, hence the real prevalence of global diabetes must be astronomically high. This study was conducted in a locality to access the level of knowledge, awareness and risk factors associated with people leaving with diabetes mellitus. A month before the screening was to be conducted, a health screening in some selected churches and on the local community radio as well as on relevant WhatsApp groups were advertised. A general health talk was delivered by the head of the screening unit to all attendees who were all educated on the procedure to be carried out with benefits and any possible discomforts after which the attendee’s consent was obtained. Evaluation of the participants for any leads to the diabetes selected for the screening was done by taking adequate history and physical examinations such as excessive thirst, increased urination, tiredness, hunger, unexplained weight loss, feeling irritable or having other mood changes, having blurry vision, having slow-healing sores, getting a lot of infections, such as gum, skin and vaginal infections. Out of the 94 participants the finding show that 78 were females and 16 were males, 70.21% of participants with diabetes were between the ages of 60-69yrs.The study found that only 10.63% of respondents declared a good level of knowledge of diabetes. Out of 3 symptoms of diabetes analyzed in this study, high blood sugar (58.5%) and chronic fatigue (36.17%) were the most recognized. Out of 4 diabetes risk factors analyzed in this study, obesity (21.27%) and unhealthy diet (60.63%) were the most recognized diabetes risk factors, while only 10.6% of respondents indicated tobacco use. The diabetic foot was the most recognized diabetes complication (50.57%), but some the participants indicated vision problems (30.8%),or cardiovascular diseases (20.21%) as diabetes complications.

Keywords: diabetes mellitus, non comunicable disease, general health talk, hyperglycemia

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Authors: Shantanu Vyas, Neerja Meena

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Facial infiltrating lipomatosis is a rare lipomatous lesion, first described by Slavin in 1983. It is a benign pseudotumor pathology. It corresponds to a non-encapsulated collection of mature adipocytes infiltrating the local tissue and hyperplasia of underlying bone leading to a craniofacial deformity. Very few cases have been reported in the literature. We report the case of a 19-year-old female patient, who was consulted for a swelling of the right hemiface progressively evolving since birth. Physical examination revealed facial asymmetry. On palpation, the mass was soft, painless, not compressible, not pulsatile, not fluctuating. In view of the asymptomatic nature and slow progression of the lesion, a lipomatous tumour, namely lipoma, was suggested. CT scan image shows a hyperplastic subcutaneous fat on the right hemiface. On the right jugal and temporal areas, there is a subcutaneous formation of fatty density, poorly limited, with no detectable peripheral capsule. It merges with the adjacent fat. In the bone window, there was a hyperplasia of underlying bone. Facial lipomatosis infiltration of the face is a benign pseudotumor pathology. As a result, it can be confused with other disorders, in particular, hemifacial hyperplasia. Combination of physical and radiological findings can establish the diagnosis. Surgical treatment is done for cosmetic purposes.

Keywords: cosmetic correction and facial assemetry, aesthetic results, facial infiltration, surgery

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Authors: Mohua Chatterjee, Rajib De

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Introduction: Bone Marrow Transplant (BMT) is often performed to treat patients with various types of leukemia. A majority of these patients develop complications like chronic musculoskeletal GVHD post-BMT where patients get scleroderma, pain and restricted range of motion of joints of hand. If not treated early, it may cause permanent deformity of hand. This study was done to find the effectiveness of physiotherapy in hand dysfunction caused due to chronic musculoskeletal GVHD of leukemia patients after BMT. Methodology: 23 patients diagnosed with leukemia and having musculoskeletal GVHD were treated with a set of exercises including active exercises and stretching. The outcome was measured by Cochin Hand Function Scale (CHFS) at baseline and after four weeks of intervention. Results: Two patients were not able to carry out exercises beyond two weeks due to relapse of disease and one patient defaulted. It was found that all the patients who received physiotherapy had significant improvement in hand function. Mean CHFS decreased from 63.67 to 27.43 (P value < 0.001) indicating improvement in hand function after four weeks of physiotherapy. Conclusion: Early intervention of physiotherapy is effective in reducing hand dysfunction of leukemia patients with musculoskeletal GVHD post-BMT.

Keywords: bone marrow transplant, hand dysfunction, leukemia, musculoskeletal graft versus host disease, physiotherapy

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Authors: Yung-Feng Yen, Yun-Ju Lai

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Background: Metabolic syndrome (MetS) is reversible; however, the effect of changes in MetS status on the risk of incident cancer has not been extensively studied. We aimed to investigate the effects of changes in MetS status on incident cancer risk. Methods: This prospective, longitudinal study used data from Taiwan’s MJ cohort of 157,915 adults recruited from 2002–2016 who had repeated MetS measurements 5.2 (±3.5) years apart and were followed up for the new onset of cancer over 8.2 (±4.5) years. A new diagnosis of incident cancer in study individuals was confirmed by their pathohistological reports. The participants’ MetS status included MetS-free (n=119,331), MetS-developed (n=14,272), MetS-recovered (n=7,914), and MetS-persistent (n=16,398). We used the Fine-Gray sub-distribution method, with death as the competing risk, to determine the association between MetS changes and the risk of incident cancer. Results: During the follow-up period, 7,486 individuals had new development of cancer. Compared with the MetS-free group, MetS-persistent individuals had a significantly higher risk of incident cancer (adjusted hazard ratio [aHR], 1.10; 95% confidence interval [CI], 1.03-1.18). Considering the effect of dynamic changes in MetS status on the risk of specific cancer types, MetS persistence was significantly associated with a higher risk of incident colon and rectum, kidney, pancreas, uterus, and thyroid cancer. The risk of kidney, uterus, and thyroid cancer in MetS-recovered individuals was higher than in those who remained MetS but lower than MetS-persistent individuals. Conclusions: Persistent MetS is associated with a higher risk of incident cancer, and recovery from MetS may reduce the risk. The findings of our study suggest that it is imperative for individuals with pre-existing MetS to seek treatment for this condition to reduce the cancer risk.

Keywords: metabolic syndrome change, cancer, risk factor, cohort study

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Authors: Deepa Shokeen, Bani Tamber Aeri

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Food choice is a complex process influenced by the interplay of multiple factors, including physical, socio-cultural and economic factors comprising macro or micro level food environments. While a clear understanding of the relationship between what we eat and the environmental context in which these food choices are made is still needed; it has however now been shown that food environments do play a significant role in the obesity epidemic and increasing cardio-metabolic risk factors. Evidence in other countries indicates that the food environment may strongly influence the prevalence of obesity and cardio-metabolic risk factors among young adults. Although in the Indian context, data does indicate the associations between sedentary lifestyle, stress, faulty diets but very little evidence supports the role of food environment in influencing cardio-metabolic health among employed adults. Thus, this research is required to establish how different environments affect different individuals as individuals interact with the environment on a number of levels. Methodology: The objective of the present study is to assess the effect of selected food and nutrition environments with emphasis on worksite environment and to analyse its impact on the food choices and dietary behaviour of the employees (25-45 years of age) of the organizations under study. In the proposed study an attempt will be made to randomly select various worksite environments from Delhi and NCR. The study will be conducted in two phases. In phase I, Information will be obtained on their socio-demographic profile and various factors influencing their food choices including most commonly consumed foods and most frequently visited eating outlets in and around the work place. Data will also be gathered on anthropometry (height, weight, waist circumference), biochemical parameters (lipid profile and fasting glucose), blood pressure and dietary intake. Based on the findings of phase I, a list of the most frequently visited eating outlets in and around the workplace will be prepared in Phase II. These outlets will then be subjected to nutrition environment assessment survey (NEMS). On the basis of the information gathered from phase I and phase II, influence of selected food and nutrition environments on food choice, dietary behaviour and prevalence of cardio-metabolic risk factors among employed adults will be assessed. Expected outcomes: The proposed study will try to ascertain the impact of selected food and nutrition environments on food choice and dietary intake of the working adults as it is important to learn how these food environments influence the eating perceptions and health behavior of the adults. In addition to this, anthropometry blood pressure and biochemical assessment of the subjects will be done to assess the prevalence of cardio-metabolic risk factors. If the findings indicate that the work environment, where most of these young adults spend their productive hours of the day, influence their health, than perhaps steps maybe needed to make these environments more conducive to health.

Keywords: food and nutrition environment, cardio-metabolic risk factors, India, worksite environment

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Authors: Nigatu Tadesse, Li Juan, Liuhong Ming

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Gastric cancer (GC) is the fifth most common and fourth deadly cancer in the world with limited treatment options at late advanced stage in which surgical therapy is not recommended with chemotherapy remain as the mainstay of treatment. However, the occurrence of chemoresistance as well as intera-tumoral and inter-tumoral heterogeneity of response to targeted and immunotherapy underlined a clear unmet treatment need in gastroenterology. Several molecular and cellular alterations ascribed for chemo resistance in GC including cancer stem cells (CSC) and tumor microenvironment (TME) remodeling. Cancer cells including CSC bears higher metabolic demand and major changes in TME involves alterations of gut microbiota interacting with nutrients metabolism. Metabolic upregulation in lipids, carbohydrates, amino acids, fatty acids biosynthesis pathways identified as a common hall mark in GC. Metabolic addiction to methionine metabolism occurs in many cancer cells to promote the biosynthesis of S-Adenosylmethionine (SAM), a universal methyl donor molecule for high rate of transmethylation in GC and promote cell proliferation. Targeting methionine metabolism found to promotes chemo-sensitivity with treatment non-heterogeneity. Methionine restriction (MR) promoted the arrest of cell cycle at S/G2 phase and enhanced downregulation of GC cells resistance to apoptosis (including ferroptosis), which suggests the potential of synergy with chemotherapies acting at S-phase of the cell cycle as well as inducing cell apoptosis. Accumulated evidences showed both the biogenesis as well as intracellular metabolism of exogenous methionine could be safe and effective target for therapy either alone or in combination with chemotherapies. This review article provides an over view of the upregulation in methionine biosynthesis pathway and the molecular signaling through the PI3K/Akt/mTOR-c-MYC axis to promote metabolic reprograming through activating the expression of L-type aminoacid-1 (LAT1) transporter and overexpression of Methionine adenosyltransferase 2A(MAT2A) for intercellular metabolic conversion of exogenous methionine to SAM in GC, and the potential of targeting with novel therapeutic agents such as methioninase (METase), Methionine adenosyltransferase 2A (MAT2A), c-MYC, methyl like transferase 16 (METTL16) inhibitors that are currently under clinical trial development stages and future perspectives.

Keywords: gastric cancer, methionine metabolism, pi3k/akt/mtorc1-c-myc axis, gut microbiota, MAT2A, c-MYC, METTL16, methioninase

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Authors: Heng W. Chang, Mao F. Sun

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Chronic Idiopathic Urticaria (CIU) and hypertension are rarely discussed together in modern and traditional Chinese medicine, and often belong to different medical departments. However, in traditional Chinese medicinal theory, the two diseases have some similar characters. For example, they are both relevant to 'wind'. This study conducted a literature review using the China National Knowledge Infrastructure to identify herbs yielding the same effect for the two diseases. The finding showed that the common herbs used most frequently is Rehmanniae. The conclusion is that the same TCM (Traditional Chinese Medicine) mechanism of the two diseases may be 'blood heat'. It requires further study to prove it in the future.

Keywords: urticaria, herbs, hypertension, Rehmanniae

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Authors: Khaled Harrar, Rachid Jennane

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The purpose of this study is the discrimination of 28 postmenopausal with osteoporotic femoral fractures from an age-matched control group of 28 women using texture analysis based on fractals. Two pre-processing approaches are applied on radiographic images; these techniques are compared to highlight the choice of the pre-processing method. Furthermore, the values of the fractal dimension are compared to those of the fractal signature in terms of the classification of the two populations. In a second analysis, the BMD measure at proximal femur was compared to the fractal analysis, the latter, which is a non-invasive technique, allowed a better discrimination; the results confirm that the fractal analysis of texture on calcaneus radiographs is able to discriminate osteoporotic patients with femoral fracture from controls. This discrimination was efficient compared to that obtained by BMD alone. It was also present in comparing subgroups with overlapping values of BMD.

Keywords: osteoporosis, fractal dimension, fractal signature, bone mineral density

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Authors: Shelin Jin, Jin Huang, Shiqin Cao, Qiuzhen Jia, Bo Zhang, Zhenyu Sun

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Stripe rust and leaf rust, caused by Puccinia striiformis f.sp. tritici and Puccinia recondita f.sp. tritici are two of the most damaging diseases of wheat in China. In recent years, leaf rust has migrated to some wheat growing areas previously suitable for stripe rust, resulting in a mixture of the two diseases occurring in the same area and at the same time, and seriously damage wheat production in China, Gansu Province. The most effective method of prevention those two diseases are through the use of resistant cultivars. However, many studies have only carried out of resistance of wheat varieties for a single disease; resistance to both diseases is unknown. In order to definite the resistance composition of wheat varieties to these two diseases, 715 wheat varieties/lines from 8 breeding units in Gansu province were collected to test for the resistance to stripe rust and leaf rust at seedling stage in greenhouse and at adult plant stage in field in 2016-2018, respectively. Spore suspensions with the fresh mixture races of CYR32, CYR33, and CYR34 of Puccinia striiformis f.sp. tritici and mixture races of THTP, THTT, TKTT, and THTS of Puccinia recondita f.sp. tritici were used for inoculation separately. The result shows that only 4.74% of the varieties/lines show comprehensive resistance to strip rust and leaf rust at all growth stages, and there are 34 wheat varieties/lines including Tianxuan 67, 2006-1-4-1-4-2-7-2-3-10, 03-139-1-2-2-1-2-1, Qingnong 21, Lenghan 5, 04-203-1-1-1 and so on. In seedling stage, the frequencies of resistant varieties/lines to wheat strip rust and leaf rust were 56.64% and 30.23%. While the materials were susceptible to these diseases were 43.36% and 69.77%. 71 varieties/lines were resistant to those two diseases, accounted for 9.93%. 10 varieties/lines, accounted for 1.4%, were highly resistant (including immune/near immune) to those two diseases. In adult-plant stage, the frequencies of resistant varieties/lines to wheat strip rust and leaf rust were 76.53% and 36.11%. While the materials were susceptible to these diseases were 23.47% and 63.89%. 137 varieties/lines were resistant to those two diseases, accounted for 19.16%. 59 varieties/lines, accounted for 8.25%, were highly resistant (including immune/near immune) to those two diseases. Overall, the 715 varieties /lines had high resistance to wheat strip rust, but poor resistance to leaf rust. This study found out some resistant materials which had better comprehensive resistance to leaf rust and strip rust, also pointed out the resistance characteristics of 715 varieties/lines to those two diseases at the seedling stage and adult-plant stage, which will be of great guiding significance in wheat resistance breeding and comprehensive control those two diseases in China, Gansu Province in the future.

Keywords: Puccinia striiformis f.sp. tritici, Puccinia recondita f.sp. tritici, resistance of variety, wheat

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Authors: Munkhtuul G., Bolortsetseg Z., Lutzul M., Sugar N., Nyamdorj D., Nomundari B., Zesemdorj O., Erdenebayar N., Lkhagvasuren T. S., Munkhbayarlakh S., Bayasgalan T. Uurtuya S. H.

Abstract:

Background: Elevated serum uric acid (SUA) levels are observed in metabolic and cardiovascular conditions as an early predictor of metabolic syndrome (MS). Hyperuricemia, characterised by high uric acid levels in serum, increases the risk of developing MS by 1.6 times. Being overweight and obese significantly contributes to developing MS and cardiovascular disorders. In Mongolia, the prevalence of overweight and obesity is reaching 48.8% among individuals aged 15 to 49 years, indicating a potential surge in the incidence of MS, cardiovascular disorders, diabetes mellitus, and gout.Objective: This study aimed to determine the SUA levels in men diagnosed with MS and investigate the factors influencing these levels.Methods: A total of 119 men aged 30-60, who underwent preventive examinations and resided in Ulaanbaatar city, were included in the study. The criteria established by the International Diabetes Federation (IDF), American Heart Association (AHA), and the National Heart, Lung, and Blood Institute (NHLBI) were employed to define metabolic syndrome. Hyperuricemia was defined as SUA levels ≥7 mg/dL. Dietary intake was evaluated through the 24-hour recall method.Results: The study revealed that the prevalence of MS among the participants was 42.9% (n=51), with hyperuricemia observed in 16.8% (n=20) of the individuals. Among men diagnosed with MS, 21.3% (n=10) exhibited hyperuricemia. The mean SUA levels were as follows: 4.7±0.8 mg/dL in the healthy group, 5.9±1.1 mg/dL in men without MS but presenting central obesity, and 6.2±1.3 mg/dL in men with MS. After adjusting for age and body mass index (BMI), a positive correlation was observed between SUA levels and triglycerides (β=0.93) as well as lipid accumulation product (LAP) (β=0.92) in men with MS. In the central obesity group, SUA levels exhibited a positive correlation with triglycerides (β=0.91), visceral adiposity index (VAI) (β=0.73), LAP (β=0.92), and cardiometabolic index (CMI) (β=0.69). The risk of hyperuricemia increased by 3.29 times with elevated triglycerides and 3.53 times with an increased LAP.Conclusion: The findings indicate that abdominal fat accumulation, as indicated by elevated triglyceride levels and LAP, is associated with increased SUA levels in men with MS. However, no significant relationship was observed between SUA levels and dietary intake.

Keywords: central obesity, obesity, triglycerides, hyperuricemia

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Authors: Bartłomiej K. Sołtysik, Agnieszka Guligowska, Łukasz Kroc, Małgorzata Pigłowska, Elizavetta Fife, Tomasz Kostka

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Introduction: Functional capacity is one of the basic determinants of health in older age. Functional capacity may be influenced by multiple disorders, including cardiovascular and metabolic diseases. Nevertheless, there is relatively little evidence regarding the association of functional status and cardiometabolic risk factors. Aim: The aim of this research is to check possible association between functional capacity and cardiovascular risk factor in a group of younger seniors. Materials and Methods: The study group consisted of 300 participants aged 60-65 years (50% were women). Total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), glucose, uric acid, body mass index (BMI), waist-to-height ratio (WHtR) and blood pressure were measured. Smoking status and physical activity level (by Seven Day Physical Activity Recall Questionnaire ) were analysed. Functional status was assessed with the Timed Up and Go (TUG) Test. The data were compared according to gender, and then separately for both sexes regarding prolonged TUG score (>7 s). The limit of significance was set at p≤0.05 for all analyses. Results: Women presented with higher serum lipids and longer TUG. Men had higher blood pressure, glucose, uric acid, the prevalence of hypertension and history of heart infarct. In women group, those with prolonged TUG displayed significantly higher obesity rate (BMI, WHTR), uric acid, hypertension and ischemic heart disease (IHD), but lower physical activity level, TC or LDL-C. Men with prolonged TUG were heavier smokers, had higher TG, lower HDL and presented with higher prevalence of diabetes and IHD. Discussion: This study shows association between functional status and risk profile of cardiometabolic disorders. In women, the relationship of lower functional status to cardiometabolic diseases may be mediated by overweight/obesity. In men, locomotor problems may be related to smoking. Higher education level may be considered as a protective factor regardless of gender.

Keywords: cardiovascular risk factors, functional capacity, TUG test, seniors

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Authors: M. Acin-Albiac, P. Filannino, R. Coda, Carlo G. Rizzello, M. Gobbetti, R. Di Cagno

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Demand for smart management of large amounts of agro-food by-products has become an area of major environmental and economic importance worldwide. Brewers' spent grain (BSG), the most abundant by-product generated in the beer-brewing process, represents an example of valuable raw material and source of health-promoting compounds. To the date, the valorization of BSG as a food ingredient has been limited due to poor technological and sensory properties. Tailored bioprocessing through lactic acid bacteria (LAB) fermentation is a versatile and sustainable means for the exploitation of food industry by-products. Indigestible carbohydrates (e.g., hemicelluloses and celluloses), high phenolic content, and mostly lignin make of BSG a hostile environment for microbial survival. Hence, the selection of tailored starters is required for successful fermentation. Our study investigated the metabolic strategies of Leuconostoc pseudomesenteroides and Lactobacillus plantarum strains to exploit BSG as a food ingredient. Two distinctive BSG samples from different breweries (Italian IT- and Finish FL-BSG) were microbially and chemically characterized. Growth kinetics, organic acid profiles, and the evolution of phenolic profiles during the fermentation in two BSG model media were determined. The results were further complemented with gene expression targeting genes involved in the degradation cellulose, hemicelluloses building blocks, and the metabolism of anti-nutritional factors. Overall, the results were LAB genus dependent showing distinctive metabolic capabilities. Leuc. pseudomesenteroides DSM 20193 may degrade BSG xylans while sucrose metabolism could be furtherly exploited for extracellular polymeric substances (EPS) production to enhance BSG pro-technological properties. Although L. plantarum strains may follow the same metabolic strategies during BSG fermentation, the mode of action to pursue such strategies was strain-dependent. L. plantarum PU1 showed a great preference for β-galactans compared to strain WCFS1, while the preference for arabinose occurred at different metabolic phases. Phenolic compounds profiling highlighted a novel metabolic route for lignin metabolism. These findings will allow an improvement of understanding of how lactic acid bacteria transform BSG into economically valuable food ingredients.

Keywords: brewery by-product valorization, metabolism of plant phenolics, metabolism of lactic acid bacteria, gene expression

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Authors: Amadou Wurry Jallow, Adama N. S. Bah, Karamo Bah, Shih-Ye Wang, Kuo-Chung Chu, Chien-Yeh Hsu

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Chronic kidney disease (CKD) is a major public health challenge with high prevalence, rising incidence, and serious adverse consequences. Developing effective risk prediction models is a cost-effective approach to predicting and preventing complications of chronic kidney disease (CKD). This study aimed to develop an accurate machine learning model that can dynamically identify individuals at risk of CKD using various kinds of diagnostic data, with or without laboratory data, at different follow-up points. Creatinine is a key component used to predict CKD. These models will enable affordable and effective screening for CKD even with incomplete patient data, such as the absence of creatinine testing. This retrospective cohort study included data on 19,429 adults provided by a private research institute and screening laboratory in Taiwan, gathered between 2001 and 2015. Univariate Cox proportional hazard regression analyses were performed to determine the variables with high prognostic values for predicting CKD. We then identified interacting variables and grouped them according to diagnostic data categories. Our models used three types of data gathered at three points in time: non-laboratory, laboratory, and metabolic indices data. Next, we used subgroups of variables within each category to train two machine learning models (Random Forest and XGBoost). Our machine learning models can dynamically discriminate individuals at risk for developing CKD. All the models performed well using all three kinds of data, with or without laboratory data. Using only non-laboratory-based data (such as age, sex, body mass index (BMI), and waist circumference), both models predict chronic kidney disease as accurately as models using laboratory and metabolic indices data. Our machine learning models have demonstrated the use of different categories of diagnostic data for CKD prediction, with or without laboratory data. The machine learning models are simple to use and flexible because they work even with incomplete data and can be applied in any clinical setting, including settings where laboratory data is difficult to obtain.

Keywords: chronic kidney disease, glomerular filtration rate, creatinine, novel metabolic indices, machine learning, risk prediction

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Authors: Frank Boris Feutmba Keutchou, Saurelle Fabienne Bieghan Same, Verelle Elsa Fogang Pokam, Charles Ursula Metapi Meikeu, Angel Marilyne Messop Nzomo, Ousman Tamgue

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Infectious diseases are one of the most important causes of morbidity and mortality worldwide. These diseases are caused by micro-pathogenic organisms, such as bacteria, viruses, parasites, and fungi. Heritable changes in gene expression that do not involve changes to the underlying DNA sequence are referred to as epigenetics. Emerging evidence suggests that epigenetic mechanisms are important in the emergence and progression of infectious diseases. Pathogens can manipulate host epigenetic machinery to promote their own replication and evade immune responses. The Human Genome Project has provided new opportunities for developing better tools for the diagnosis and identification of target genes. Several epigenetic modifications, such as DNA methylation, histone modifications, and non-coding RNA expression, have been shown to influence infectious disease outcomes. Understanding the epigenetic mechanisms underlying infectious diseases may result in the progression of new therapeutic approaches focusing on host-pathogen interactions. The goal of this study is to show how different infectious agents interact with host cells after infection.

Keywords: epigenetic, infectious disease, micro-pathogenic organism, phenotype

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Authors: Sara Mercedes Barroso Pinzón, Álvaro Jesús Caicedo Castro, Antonio Javer Sánchez Herencia

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In recent years there has been increased academic and industrial research into the development of orthopaedic implants with structural properties and functionality similar to mechanical strength, osseointegration, thermal stability and antibacterial capacity similar to bone structure. Hydroxyapatite has been considered for decades as an ideal biomaterial for bone regeneration due to its chemical and crystallographic similarity to the mineral structure bioapatites. However, the lack of trace elements in the hydroxyapatite structure confers very low mechanical and biological properties. Under this scenario, the objective of the research is the synthesis of hydroxyapatite with Mg from the francolite mineral present in phosphate rock from the central-eastern region of Colombia, taking advantage of the extraction of mineral species as natural precursors of Ca, P and Mg. The minerals present were studied, fluorapatite as the mineral of interest associated with magnesium carbonates and quartz. The chemical and mineralogical composition was determined by X-ray fluorescence (XRF) and X-ray diffraction (XRD), scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy (EDX); the optimum conditions were established using the acid leaching mechanism in the wet concentration process. From the products obtained and characterised by XRD, XRF, SEM, FTIR, RAMAN, HAp-Mg biocomposite scaffolds are fabricated and the influence of Mg on morphometric parameters, mechanical and biological properties in the formed materials is evaluated.

Keywords: phosphate rock, hydroxyapatite, magnesium, biomaterials

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Authors: Sean Hall

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Prior to COVID-19, the world was preoccupied with opioids, effectiveness versus risk, and specifically toxicity versus abuse. Historically underpinning opioid use was a concept of safety. As use over time and real-world data evolved, a pursuit for efficacy associated with non-opioid alternatives became mainstream. On January 8, 2021, the US signed back into the opioid problem, with these two fundamental questions still unresolved. The author will share the current progression of a lead non-opioid cancer bone pain candidate, NanaBis™. NanaBis™ represents two innovative factors: The active ingredients are from cannabinoids; these ingredients are in a proprietary sub-micron delivery platform, NanoCelle®. The author will offer an opinion piece, potentiating the future role of delivery platforms in medicine to increase both patient safety and compliance.

Keywords: NanaBis, nanoCelle, opioids, toxicity

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Authors: Chanjuan Sun, Shijie Hong, Jialing Zhang, Yuchao Guo, Zhijun Zou, Chen Huang

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Background: Studies on associations between air temperature and childhood respiratory diseases are lack in China. Objectives: We aim to analyze the relationship between air temperature and childhood respiratory diseases. Methods: We conducted the on-site inspection into 454 residences and questionnaires survey. Indoor air temperature were from field inspection and outdoor air temperature were from website. Multiple logistic regression analyses were used to investigate the associations. Results: Indoor extreme hot air temperature was positively correlated with duration of a common cold (>=2 weeks), and outdoor extreme hot air temperature was also positively related with pneumonia among children. Indoor and outdoor extreme cold air temperature was a risk factor for rhinitis among children. The biggest indoor air temperature difference (indoor maximum air temperature minus indoor minimum air temperature) (Imax minus Imin) (the 4th quartile, >4 oC) and outdoor air temperature difference (outdoor maximum air temperature minus outdoor minimum air temperature) (Omax minus Omin) (the 4th quartile, >8oC) were positively related to pneumonia among children. Meanwhile, indoor air temperature difference (Imax minus Imin) (the 4th quartile, >4 oC) was positively correlated with diagnosed asthma among children. Air temperature difference between indoor and outdoor was negatively related with the most childhood respiratory diseases. This may be partly related to the avoidance behavior. Conclusions: Improper air temperature may affect the respiratory diseases among children.

Keywords: air temperature, extreme air temperature, air temperature difference, respiratory diseases, children

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Authors: Edward Poluyi, Eghosa Morgan, Charles Poluyi, Chibuikem Ikwuegbuenyi, Grace Imaguezegie

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Background: Current epidemiological studies have examined the associations between moderate and severe traumatic brain injury (TBI) and their risks of developing neurodegenerative diseases. Concussion, also known as mild TBI (mTBI), is however quite distinct from moderate or severe TBIs. Only few studies in this burgeoning area have examined concussion—especially repetitive episodes—and neurodegenerative diseases. Thus, no definite relationship has been established between them. Objectives : This review will discuss the available literature linking concussion and amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD). Materials and Methods: Given the complexity of this subject, a realistic review methodology was selected which includes clarifying the scope and developing a theoretical framework, developing a search strategy, selection and appraisal, data extraction, and synthesis. A detailed literature matrix was set out in order to get relevant and recent findings on this topic. Results: Presently, there is no objective clinical test for the diagnosis of concussion because the features are less obvious on physical examination. Absence of an objective test in diagnosing concussion sometimes leads to skepticism when confirming the presence or absence of concussion. Intriguingly, several possible explanations have been proposed in the pathological mechanisms that lead to the development of some neurodegenerative disorders (such as ALS and AD) and concussion but the two major events are deposition of tau proteins (abnormal microtubule proteins) and neuroinflammation, which ranges from glutamate excitotoxicity pathways and inflammatory pathways (which leads to a rise in the metabolic demands of microglia cells and neurons), to mitochondrial function via the oxidative pathways.

Keywords: amyotrophic lateral sclerosis, Alzheimer's disease, mild traumatic brain injury, neurodegeneration

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Authors: Madhusmita Dehingia, Supriyo Sen, Bhuwan Bhaskar, Tulsi Joishy, Mojibur R. Khan

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Human gut microbes and their metabolites are important for maintaining homeostasis in the gut and are responsible for many metabolic and immune mediated diseases. In the present study, we determined the profiles of the gut metabolites of five different ethnic groups (Bodo, Tai-Phake, Karbi, Tea tribe and Tai-Aiton) of Assam. Fecal metabolite profiling of the 39 individuals belonging to the ethnic groups was carried out using Gas chromatography – Mass spectrometry (GC-MS), and comparison was performed among the tribes for common and unique metabolites produced within their gut. Partial Least Squares Discriminant Analysis (PLS-DA) of the metabolites suggested that the individuals grouped according to their ethnicity. Among the 66 abundant metabolites, 12 metabolites were found to be common among the five ethnic groups. Additionally, ethnicity wise some unique metabolites were also detected. For example, the tea tribe of Assam contained the tea components, Aniline and Benzoate more in their gut in comparison to others. Metabolites of microbial origin were also correlated with the already published metagenomic data of the same ethnic group and functional analysis were carried out based on human metabolome database.

Keywords: ethnicity, gut microbiota, GC-MS, metabolites

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Authors: S. Salah, S. A. El-Masry, H. F. Sheba, R. A. El-Banna, W. Saad

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Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). Objective: To assess BMD in Egyptian children with FMF on genetic basis. Subjects and Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes, with age range between 3-16 years old. The patients were reclassified into 2 groups: Group I (A) 23 cases used colchicines for 1 month or less, and Group I (B) 22 cases used colchicines for more than 6 months. For both patients and control, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at 2 sites: proximal femur and the lumber spines. Results: four frequent gene mutations were found in the patient group: E148Q (35.6%), V726A (33.3%), M680I (28.9.0%) and M694V (2.2%). There were also 4 heterozygous gene mutations in 40% of control children. Patients received colchicines treatment for less than 1 month had highly significant lower values of BMD at femur and lumber spines than control children (p<0.05). Patients received colchicines treatment for more than 6 months had improved values of BMD at femur compared to control, but there were still significant differences between them at lumbar spine (p>0.05). There are insignificant effect of type of gene mutation on BMD and the risk of osteopenia among the patients. Conclusion: FMF had significant effect on BMD. However, regular use of colchicines treatment improves this effect mainly at femur.

Keywords: familial mediterranean fever, bone mineral density, genes, children

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