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Designing a Community Health Worker (CHW) Certificate Training that Centers Marginalized Youth’s Health and Wellness

Published on: 23rd April, 2024

The genesis of the youth Community Health Worker (CHW) and Citizen/Community Science (CS) training is rooted in interdisciplinary research and the lived experiences of families in Chicago and Urbana-Champaign. Dr. Mendenhall and colleagues’ (Drs. Robinson, Roberts and Rodriquez-Zas) South Chicago’s Black Mothers’ Resiliency Project provide dinsights into Black women’s experiences with genomics, trauma, and community science. Black women’s testimonies highlighted the health impacts of living in neighborhoods with high levels of gun violence and the resilience strategies they employ. This led to the development of a youth-centered CHW and CS training program, aimed at addressing health disparities. The program trained high school students and young adults (up to age 24) as CHWs and CSs, focusing on the objectives of (1) embedding culturally competent health workers in marginalized communities; (2) amplifying community voices; (3) collecting, analyzing, and quantifying observational data to inform policy decision-making; (4) amplifying community voices in healthcare discussions and (5) creating community health care worker training certification for youth. Over three years, the program trained over 50 participants, incorporating elements of wellness, art, and entrepreneurship.Based on ethnographic notes participants reported increases in wellness such as reduced anxiety and increased empowerment. The program’s long-term goals include creating employment opportunities for graduates and contributing to improved community health outcomes. This initiative represents a step towards addressing racial trauma and promoting community healing through youth-led innovation and empowerment.
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Sexual Dimorphism in Autoimmune Disorders

Published on: 25th April, 2024

Sexual dimorphism exists in Homo sapiens in many systems. Lately, it was found that it also exists in autoimmune disorders. Generally, it was known that the two genders in humans have different endocrine systems, and therefore hormone hormone-regulated systems show sexual dimorphism. However, in the case of autoimmune disorders, it is not due to directly on hormonal milieu but depends on X-chromosome inactivation in males. Whereas every cell in a woman’s body produces Xist; this ribonucleoprotein contains about 81 proteins. This chromosomal inactivation in males and formation of Xist ribonucloprotein in females is responsible for sexual dimorphism in autoimmune disorders in humans.
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Advancing Oral Health and Craniofacial Science through Microchip Implants

Published on: 25th April, 2024

Microchip implants have emerged as transformative tools in the realm of oral health and craniofacial science, offering novel solutions to longstanding challenges. This paper aims to explore the diverse applications of microchip technology in dentistry and craniofacial medicine, envisioning a future where these implants play a pivotal role in diagnostics, treatment modalities, and ongoing patient care. The integration of microchips enables real-time monitoring of oral conditions, facilitating early detection of dental issues and providing personalized treatment strategies. Additionally, these implants open avenues for smart prosthetics and orthodontic devices, optimizing patient comfort and treatment outcomes. However, ethical considerations, patient perceptions, and the societal impact of such technology should also be addressed. By examining the multifaceted implications and applications of microchip implants in oral health and craniofacial science, this research overview seeks to contribute valuable insights to the intersection of technology and healthcare in the dental domain.
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Reducing CO2 in Passive House Adapted Low-cost Tropical Homes?

Published on: 26th April, 2024

The background of this novel study is how to apply an empirically adjusted Passive House concept in the tropics - beyond its otherwise prevailing global standards. Even though well-insulated houses have been on the planet since people settled down in some of their first dwellings, passive in the 21st century is different. It includes strict rules for airtightness and fitting of windows along with a sophisticated concept for artificial ventilation. Fresh air reachable from outside by filtered ventilation with heat recovery describes the heart of the system - if natural outside air is not preferable, it is convenient just in seasons with thermal comfort.Hence, the purpose and aim of the study presented here is to use a less common and at the same time more cost-saving approach: It might seem that the modern type of passive house entails the same standards that have been developed firmly on its own global market niche. However, this article tries to contribute toward a new development of modern passive homes for low-cost affordable tropical and subtropical houses in their entirety.As a concluding note, the author states that nobody has ever disproven this evolving concept as a combination of airtightness and a new way of forced ventilation without heat- or coolness recovery which is highly applicable for low-cost residential areas in tropical countries. By generating lower temperatures, it can help to surpass the overheating caused by climate change in certain tropical climate zones in higher altitudes and during cooler seasons. The condition is that the occupants are willing to accept a thermal comfort of up to 28 °C and humidity in its 70s and 80s.
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Toxicity and Phytochemical Analysis of Five Medicinal Plants

Published on: 25th April, 2024

Recent studies have shown that long-term uses of herbs have been associated with a rise in morbidity and mortality rates. While most researches are focused on bioactivity investigations, the toxicity of many plants has not been reported. There is a paucity of data on the potential toxicity of the following plants: Harungana madagascariensis (HM), Pterocarpus osun (PO), Phoenix dactylifera (PD), Annona muricata (AM), and Rutidea parviflora (RP). To evaluate the toxicity of the above-mentioned plants; two tests were employed namely: The Brine shrimp lethality test (BSLT) and the Allium cepa test. A correlation between the oral acute toxicity assay in mice and the LC50 obtained from BSLT has been established. Allium cepa test measures the potential genotoxic effects of plant extracts exerted on the root meristem of A. cepa (onions). Plant extracts were administered in concentrations ranging from 100 to 2500 µg/ml to the A. cepa for 72 h to obtain their Mitotic Indices (MI) and EC50. Results of the MI at 2500 µg/ml for HM, PO, PD, AM, and RP were 3.75, 4.96, 5.96, 6.10, and 6.71 while 281.81, 398.11, 501.19, 630.96, and 707.9 µg/ml were obtained as the respective EC50 values. Furthermore, 10-1000 mcg/ml concentrations were administered in the BSLT and the obtained LC50 values were 116.3, 250, 581.5, 581.5, and 750 µg/ml. The toxicity result demonstrated that the five plants were moderately toxic, with RP exhibiting minimal toxicity values and thus potentially having a good safety profile. The phytochemical screening of these plants revealed the presence of some pharmacologically important classes of compounds that are abundant. Several bioactive and toxic compounds were identified in the GC-MS analysis for some of the plants.
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Evaluation of Soil Water Characteristic Curves of Boron added Sand-bentonite Mixtures using the Evaporation Technique

Published on: 25th April, 2024

Compacted bentonite or sand-bentonite mixtures are considered buffer/backfill materials in the engineering barriers of deep geological repositories for high-level nuclear waste (HLW) disposal in many countries. The design and long-term functionality of nuclear repositories have critical importance for environmental safety and public health. The initially unsaturated buffer material could become re-saturated long after following the sealing of the repository. Although the saturation degree of the buffer might decrease due to high temperatures and evaporation, it tends to increase with groundwater intrusion. Therefore, the soil water characteristic curves (SWCCs) for these unsaturated soils are a key factor in geotechnical engineering. Yet, the determination of SWCCs can be time-consuming and prone to inaccuracies. The HYPROP (Hydraulic Property Analyzer) evaporation technique is a preferred method for accurately determining water retention curves of soils. This reliable method was applied to estimate the water retention curves for sand-bentonite mixtures in the presence of boron minerals. Known for their minimal thermal expansion and commonly used in various industries, boron minerals may improve the thermal stability of sand-bentonite mixtures. The findings revealed that the boron addition increased the water retention capacity of the 10% bentonite mixtures but had a negligible impact on the 20% bentonite mixtures.
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A Critical Review on Some Recent Developments in Comparison of Biological Sequences

Published on: 25th April, 2024

The present review highlights some of the very important contributions to non-alignment ways of comparing biological sequences, which may be genome sequences of nucleotides, protein sequences of amino acids, or sequences of protein secondary structures. The discussion centers around specific methods applicable to the comparison of three types of sequences. The methods of comparison of genome sequences are based on three pairs of biological groups of nucleotides; the same for protein sequences are based on either physio-chemical property values of amino acids or on classified groups of amino acids of different cardinalities obtained from the physio-chemical properties; the same for sequences of secondary structures of proteins are based on their sequential expressions of structure elements of cardinality three and four. Comparison is made in the time domain and also in the frequency domain. Different taxa of known phylogeny are considered for comparison. It tries to find out the specific method of comparison, which can show the exact phylogeny of the taxa. If a new sequence appears in the database, it becomes essential to know its phylogeny. For this purpose, a phylogenetic tree is drawn on the sequences of the known taxa together with this new sequence using the best possible method. If the species having this new sequence belongs to the old taxa, there is nothing to worry about. Otherwise, the species with the new sequence has to be studied separately. This is the general reason for the construction of a phylogenetic tree in any form of biological sequence comparison.
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Texture Analysis of Hard Tissue Changes after Sinus Lift Surgery with Allograft and Xenograft

Published on: 29th April, 2024

In the realm of dental surgery, implants are essential for replacing missing teeth. To facilitate implant placement, techniques such as bone grafting and sinus lifts are utilized to augment the volume of atrophied alveolar bone in candidates for dental implants. Typically, patients undergo a period of recovery following bone grafts before proceeding with implant placement. This study investigates the efficacy of Cone Beam Computed Tomography (CBCT) in measuring the residual bone volume and assessing bone quality after the healing phase. A texture analysis was conducted on CBCT scans from 42 patients requiring maxillary sinus lift reconstruction. These patients were categorized into two groups based on the type of grafting material used: Xenograft or allograft. The study analyzed the distribution of various texture parameters and conducted a Mann-Whitney U test to identify significant statistical differences between the groups. Results indicated non-normal distributions for specific variables such as Area_S(1,0) and S(1,0)SumOfSqs, while others like S(1,0)Entropy displayed normal distributions. The findings revealed no significant statistical differences in the primary outcomes between the xenograft and allograft groups. However, the average values of the gray shades of pixels in the allograft group were statistically significantly higher compared to the xenograft group, suggesting differences in bone texture post-procedure.
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Assessment of Redox Patterns at the Transcriptional and Systemic Levels in Newly Diagnosed Acute Leukemia

Published on: 29th April, 2024

Background: Acute leukemia is the result of clonal transformation and proliferation of a hematopoietic progenitor giving rise to poorly differentiated neoplastic cells. Reactive oxygen species play a role in maintaining the quiescence, self-renewal, and long-term survival of hematopoietic stem cells, but it is unclear how they would affect disease onset and progression. The aim is to evaluate, at the transcriptional and systemic level, the oxidative-inflammatory status in newly diagnosis acute leukemia patients. Methods: Seventy acute leukemia patients [26 acute lymphoblastic leukemia (ALL), 13 Acute Promyelocytic Leukemia (APL), and 31 Acute Myeloid Leukemia (AML)] and forty-one healthy controls were analyzed. Malondialdehyde and catalase activity were evaluated. Gene expression of NRF2, SOD, PRDX2, CAT, IL-6, and TNF-α was analyzed by real-time PCR.Results: Malondialdehyde concentration was similar in all groups studied. Catalase activity was significantly higher in AML and APL patients compared to controls, while ALL showed similar activity to the healthy group. NRF2, CAT, and PRDX2 expression levels were similar between groups, SOD expression was downregulated in all acute leukemia patients. TNF-α expression was lower in AML groups than in healthy individuals, and IL-6 mRNA expression was downregulated in ALL and APL.Conclusion: This is the first report that correlates transcriptional and systemic parameters associated with the oxidative inflammatory status in newly diagnosed acute leukemia. Some of the parameters evaluated could be used as biomarkers in the selection of an effective therapeutic strategy and will open new directions for the follow-up and evolution of this disease.
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Emerging Risk of Microplastics on Health, Agriculture and Environment

Published on: 30th April, 2024

Exposure to microplastics is unavoidable, and a vast amount of microplastics are traveling around the oceans. Microplastics are considered one of the major potential pollutants due to their exposure and interference with the health of humans, animals, aquatic species, agriculture, etc. Shockingly, the microplastic was also detected in the human placenta (fetal and amniochorial membranes), which could cause long-term effects on human health. The disposal of plastic into the oceans is the most happening process across the globe; thereby, microplastic pollution is evident, leading to a huge risk to marine species. Also, the accumulation of microplastics on soil or land leads to an increase in pH value, thereby affecting the surface water and soil-groundwater medium, eventually affecting plant and human health. At the same time, microplastics and their particles are found in milk, meat, and other edible items, which directly affects human health. The appearance of microplastic particles in insects, birds, animals, and even human blood indicates its adverse effect on the environment. This review has discussed the impact of microplastic on the health of humans, aquatic species, and agriculture.
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Morular Metaplasia of the Endometrium: A Case Report and Literature Review: Care Pathways based on Molecular Biology

Published on: 30th April, 2024

Background: Endometrial morular metaplasia, a clinical conundrum from a diagnostic and management angle given its rarity and low oncogenic potential, has been linked to endometrial hyperplasia and carcinoma. Case report: A 77-year-old woman with no significant past medical history, was found to have an asymptomatic thickened endometrium on pelvic imaging, after presenting with lower abdominal pain, 3yrs ago. Diagnostic hysteroscopy identified an endometrial polyp within a pyometra. Histopathology showed focal complex endometrial hyperplasia without atypia with superimposed morular metaplasia(EMM) with a negative microbiology assay.Following conservative management with multidisciplinary team(MDT) overview, as-per patient choice with 6-monthly follow-up hysteroscopy, endometrial biopsies and a short use of the Mirena® Intrauterine system (discontinued following poor tolerance), histopathology shows resolved hyperplasia with persistent EMM. Due to persistent disease, a hysterectomy is under consideration.Discussion: Current evidence suggests that a sub-type of EMM, a likely histological manifestation of beta-catenin (CTNNB1) gene mutation: could be a precursor of endometrial hyperplasia and low-grade endometrioid-endometrial carcinoma sub-type. Though low-grade in nature, the increased recurrence risk raises significant concerns.Prognostication following gene mutation identification can help with management options which include conservative, hormonal therapy with adjunct repeat endometrial sampling: or hysterectomy. The optimal frequency of endometrial sampling when uterine-sparing, is unclear, leading to a management conundrum, whilst persistent disease may require a hysterectomy.Conclusion: Management of endometrial morular metaplasia can be difficult but must reflect the woman’s choice with a MDT-overview. Immuno-histochemical tools utilizing new molecular biological advances, can simplify the diagnostic and prognostication processes, aiding clinical management.
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A Study on Potential Feed Sources to Boost Guppy Fish, Poecilia reticulata Productivity

Published on: 2nd May, 2024

Aquaculture may simply be referred as “Underwater Agriculture.”India is a major maritime state and an important aquaculture- based country in the worldhaving major aquaculture activitiesin the production of Carp from Freshwater,Shrimp from Brackish water, etc. Feed requirements of fish vary in quantity and quality according to the feeding habits, physiological stages of the species and environmental variations viz., temperature; amount and type of natural food availability in the culture system.A nutritious and cheap feed is a pre requested for profitable aquaculture. Though, use of commercially available feed is in practice in many countries. The feed cost consumes more Than half of running expenditure. Therefore, the search of nutritionally well-balanced feed Prepared from very cheap locally available ingredients in progress in all the aqua farming countries. In the present study, an attempt has been made to well-balanced nutritious feed Particularly from the locally available cheaper ingredients. The objectives of the present study are: to assess the effect of feed on the growth of finfish and shellfish in the laboratory, to prepare the conventional feed with traditional ingredients and to check the effect of feed on the growth performance of ornamental fish - Guppy, Poecilia reticulata.
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Loneliness and Culture: A Commentary

Published on: 1st May, 2024

Loneliness is thean experience that is intertwined inwith being human, but since it is so painful and troubling, all of us try to avoid it. It has short- and long-term negative consequences, including its influence on our life satisfaction, health, and mortality. Various causal factors were explored regarding loneliness, which is essentially a subjective experience. This commentary aims to highlight the contribution of culture, be it collectivistic or individualistic, to the development of loneliness. Since loneliness is correlated with the expectation of being with others and part of a community, research found that people in collectivistic cultures are lonelier than those in individualistic ones. Ethnicity also contributes to the development, and was thus reviewed. While it beingis an essential part of being human, loneliness can, indeed, be attenuated and its pain lessened, and culture may predict ways of doing so.
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Prevalence and Associated Factors of Hypoglycemia among Severe Acute Malnourished Children who admitted in East Gojjam Zone Public Hospitals from 2018 to 2021, Northwest Ethiopia, 2022. Multi-center Retrospective Cross Sectional Study

Published on: 29th April, 2024

Background: Globally, severe acute malnutrition (SAM) remains a major killer of children under 5 years of age. The highest magnitude is seen in sub-Saharan Africa, including Ethiopia. Hypoglycemia is the most common complication of severe acute malnutrition (SAM) and the most life-threatening condition in pediatric society. This study aimed to assess the prevalence of hypoglycemia and its associated factors among under-five children with severe acute malnutrition.Methods: A cross-sectional retrospective study was conducted among 378 randomly selected samples who were admitted to public hospitals in the East Gojjam zone from 2018 to 2021. Data was extracted from the medical records of the children and entered into SPSS version 26, Variables with a p – value < 0.25 in the Bivariate analysis were candidates for multivariable logistic regression and those with a p – value < 0.05 in the multivariable analysis were considered as having a statistically significant association with hypoglycemia among severe acute malnutrition.Results: Out of 378 respondents, 50 (13.2%) had hypoglycemia with severe acute malnutrition patients. Children admitted between the ages of 0-6 months were 2.93 (AOR = 1.57-6.25, p = 0.000), shocks were 4.6 (AOR = 1.25-17.42, p = 0.034), and fully immunized children were (AOR: 2.61 (1.01- 6.77, p = 0.048) was significantly associated with hypoglycemia with severe acute malnutrition. Conclusion and recommendation: The prevalence of hypoglycemia with severe acute malnutrition was 13.2%. We also recommend a longitudinal study should be done among children who develop hypoglycemia with severe acute malnutrition to determine the long-term consequences, especially the neurodevelopmental sequelae associated with this condition.
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Case Report: An Elusive Case of Septic Arthritis

Published on: 2nd May, 2024

Septic arthritis is a serious inflammatory infectious state of the joint secondary to microbial infection. In the pediatric population the most common route of infection is haematogenous spread. Less than fifty percent of patients with septic arthritis will yield positive culture results with a mortality rate of up to 42% in some cases. Due to the challenge in obtaining culture and identification of the causative organism the management of septic arthritis has been more of empirical in nature with the chosen antibiotic synchronized with the epidemiological data. Here is a case of a 14 months old female patient presenting at our hospital with a left knee and lower thigh swelling for three days with failure to bare weight on the limb. In addition, she had fever and diarrhea for three days. Upon evaluation clinical, laboratory and radiological findings supported septic arthritis expect for her blood, pus and synovial fluid culture of which all came back negative. She had poor response to intravenous ceftriaxone, gentamycin, metronidazole, ampicillin- cloxacillin and amoxicillin clavunate. Over the course of therapy, she developed septic shock, severe anemia and acute liver failure and was admitted to the intensive care unit. Afterwards she was initiated vancomycin and developed a hypersensitivity reaction with generalized edema which prompted cessation of the drug. Due to her critical state and poor response a triple therapy regimen composing of meropenem, ciprofloxacin and metronidazole was selected and maintained for three weeks followed by an oral clindamycin course for another three weeks of which she responded. In addition, surgical debridement arthrotomy, irrigation and drainage were done. Physiotherapy for rehabilitation is ongoing with patient recovering well.
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Obesity and Sex as Determinants of Atherogenic Risk Associated with High-Density (HDL) and Low-Density Lipoprotein (LDL) Subfractions in Adolescents: A Population-based Study Based on Health Survey of Sao Paulo

Published on: 6th May, 2024

Background: Worldwide, obesity in adolescents is an epidemiological concern. Overweight and obesity are associated with comorbidities in adult life, such as increased risk of hypertension and other non-communicable diseases. This study investigated possible differences between traditional lipid markers and Low-Density Lipoprotein (LDL) and High-Density Lipoprotein (HDL) subfractions in a population-wide representative sample of Brazilian adolescents. Methods: The individuals included in the study comprise a subsample of the 2015 Health Survey of São Paulo (ISA-Capital 2015). LDL and HDL particle sizes were determined by the Lipoprint® System (Quantimetrix Corporation). Results: 272 Brazilian adolescents with a mean age of 15.2 ± 2.2 years, of which 47.8% (n = 130) are boys. Analysis of LDL subfractions showed an increase in LDL 2 content in girls (5.7% vs. 5.1%; p = 0.047). This result was associated with a higher content of large LDL in girls (17.8% vs. 13.5%; p < 0.001) and a significant, lower content of small LDL (1.7% vs. 3.4%; p = 0.002). When obesity was considered, we observed that regardless of being overweight, girls had higher large and small LDL than boys. However, when a large to small LDL ratio was calculated, girls with no excess weight had higher values than boys with no excess weight (10.6 vs. 9.3; p = 0.038), and these had lower LDL ratio than overweight boys (9.3 vs. 13.5; p = 0.016). On the other hand, boys had higher HDL 2 content than girls (8.9% vs. 8.0%; p = 0.017), which was associated with increased large HDL values in boys (1.9% vs. 1.7%; p = 0.047). Regression analysis was performed according to gender, the sum of very low-density lipoprotein (VLDL) + intermediate density lipoprotein (IDL) C + IDL B subfractions was adjusted for age and body mass index (BMI), showing that girls had lower atherogenic lipid profile (β = 0.987; CI = 0.977-0.998; p = 0.017) than boys. When the regression analysis was performed according to BMI, large LDL in adolescents with no excess weight presented a lower atherogenic lipid profile (β = 1.040; CI = 1.000-1.082; p = 0.049), adjusted for age and sex, than overweight adolescents.Conclusion: Regardless of excess weight, girls showed a cardioprotective profile more associated with a favorable distribution of LDL subfractions than boys, reinforcing the relevance of evaluating qualitative aspects of lipoproteins in addition to the traditional cholesterol content.
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Benefits of using SLGT2 Inhibitors for Patients with CDK and DM2 to Reduce Mortality Risks

Published on: 2nd May, 2024

Type 2 diabetes mellitus (T2DM) is the most common cause of chronic kidney disease (CKD). CKD is characterized by progressive liver tissue damage and is an important risk factor for mortality due to renal and cardiovascular outcomes. Thus, randomized clinical trials have investigated the use of sodium-glucose cotransporter 2 (SLGT2) inhibitors as a promising therapy for patients with CKD and T2DM. This study aimed to analyze the benefits of using SGLT2 inhibitors in patients with CKD and T2DM to reduce mortality risks. To this end, a qualitative, descriptive methodological approach was adopted using a literature review in the PubMed, Embase, and VHL databases. The inclusion criteria were clinical trial articles, randomized or non-randomized, cohort studies, case-control studies, and open access, published in Portuguese and English, between 2018 and 2023 with topics associated with SGLT2 inhibitors, CDK, and T2DM patients. In this context, it was observed that the risk of death from CKD in patients treated with Canaglifozin was 30% lower than in those treated with a placebo and that Dapaglifozin prolonged survival. In this context, when assessing the progression of kidney disease or death from cardiovascular causes in patients taking Empagliflozin, only 13.1% achieved the outcome compared to 16.9% on placebo, so the drug safely reduces the risk of mortality. Consequently, SGLT2 inhibitors have shown excellent results in the treatment of CDK and T2DM, with a reduction in the risk of mortality, positive effects on reducing renal and cardiovascular outcomes, as well as prolonging survival.
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The Impact of Telerehabilitation on Physical Therapy Services in Rural Communities

Published on: 3rd May, 2024

Telerehabilitation is a transformative approach to physical therapy, revolutionizing the accessibility of healthcare in rural communities through the strategic use of Telecommunications technology. This novel approach has the potential to significantly enhance the efficacy of healthcare delivery, particularly considering the critical challenges posed by geographical isolation and resource scarcity. This paper explores the multifaceted benefits of Telerehabilitation, including increased access to care and reduced costs, alongside the challenges of technological barriers and privacy considerations. It provides a comprehensive overview of Telerehabilitation’s impact on rural healthcare, emphasizing its capacity to optimize patient outcomes and proposing strategies for effective implementation. The findings of this study suggest that the use of technology to deliver telecare is a key means of delivering equitable healthcare to underserved populations, a promising way to improve access to rural physiotherapy services address the challenge of telehealth resources, and promote the long-term sustainability of rural Telerehabilitation practices.
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Environmental Factors Affecting the Concentration of DNA in Blood and Saliva Stains: A Review

Published on: 7th May, 2024

DNA evidence has now become an essential part of forensic investigations since it offers vital information for person identification and crime resolution. However, the biological material is affected by some environmental factors which may impact the DNA in biological samples. This may affect the correctness and reliability of forensic DNA analysis. This review is related to the influence of various environmental conditions on the stability and degradation of DNA in biological stains including blood and saliva stains. The common factors that affect DNA are temperature, humidity, exposure to sunlight, and type of substrate. The information is crucial to improve forensic DNA analysis and forensic protocol optimization. The DNA stability and integrity in biological materials, such as blood and saliva stains, are indispensable for forensic DNA analysis. Environmental influences, however, significantly affect DNA concentration and may jeopardize forensic analysis. The present review explores various environmental factors for their effect on DNA stability in blood and saliva stains. While DNA degradation is slowed but not completely prevented by low temperatures, it is accelerated by high temperatures. Risks of contamination arise from the promotion of microbial growth and DNA breakdown by humidity. DNA photodamage brought on by sunlight exposure results in strand breakage and cross-linking. DNA stability is also influenced by the type of substrate used; porous surfaces, such as cloth, are better at keeping fluids than non-porous ones, such as glass. Maintaining the integrity of DNA evidence requires an understanding of these variables. The present studies will help to create sophisticated DNA preservation methods for use in forensic DNA examination. The study emphasizes the requirement of improvement in forensic DNA analysis skills, related to the preservation of DNA pieces of evidence and the possible effect of environmental factors.
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A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

Published on: 7th May, 2024

Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.
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