Mowat-Wilson Syndrome (MWS) is an autosomal dominant genetic syndrome caused by mutations in the ZEB2 gene. It is characterized by distinctive facial appearance, intellectual disability (ID), epilepsy, Hirschsprung disease (HSCR), and other congenital anomalies. The psychiatric symptoms, associated with MWS have rarely been reported. The following report highlights a case of schizoaffective disorder in a 24-year-old male with MWS and the challenges he encountered over his treatment course.After considering numerous diagnoses including bipolar disorder and psychosis secondary to a general medical condition, the patient was diagnosed with schizoaffective disorder. Various trials consisting of atypical antipsychotics and mood stabilizers were unsuccessful in managing his symptoms. Eventually, the patient stabilized on a medication regimen consisting of clozapine 300 mg once daily, topiramate 75 mg twice per day, and lithium 1800 mg once daily. This case report documents co-occurrence of MWS and Schizoaffective disorder.
One of the most important emerging pollutants is pharmaceutical active compounds, which may be responsible, for example, for ecotoxicological changes and microbiological resistance. Wastewater treatment plants are not adequately equipped to remove all of the emerging pollutants contained in the wastewater. The ultrafiltration process has been proven to be effective in traditional wastewater treatment, so it is important to assess the performance of such a technique in the partial elimination of pharmaceutical compounds to avoid contamination. In this work, an assessment of ultrafiltration process operating conditions for eliminating six pharmaceutical compounds: Ibuprofen, Acetaminophen, Naproxen, Diclofenac, Caffeine, and trimethoprim, present in different types of water is performed. Experimental design is a systematic and structured approach to conducting experiments, and its application can significantly improve the study of membrane technology, reducing the number of assays necessary to obtain meaningful results. The statistical principles application ensures that the results obtained are reliable and representative of the true effects of the variables being studied. Its application helps to obtain valid conclusions from the data and provides a solid basis for making decisions or recommendations regarding the tests and variables to take into account. Membrane processes can involve complex interactions between several factors. Experimental design helps to identify and understand these interactions, allowing researchers to discern the combined effects of different variables. This is crucial to accurately predict and optimize membrane performance.In this work, ANOVA analysis has been carried out in order to determine the influence of membrane cut-off, solution pH, and feed concentration, as well as their interactions, in permeate flux and the rejection index. The results obtained show similar behavior for Ibuprofen, Naproxen, Diclofenac, and Trimethoprim, being the pH the most important factor. However, no significant factors were found for the acetaminophen and the Caffeine.
Abbas Andishmand, Ehsan Zolfeqari*, Mahdiah Sadat Namayandah and Hossein Montazer Ghaem
Published on: 5th February, 2024
Background: Acute Myocardial Infarction (AMI) results in a reduction in patients’ life expectancy. Different risk factors affect the risk of Major Adverse Cardiac Events (MACE). Although the role of kidney dysfunction in patients with Chronic Kidney Disease (CKD) in cardiac events has been identified, many patients with AMI are unaware of their underlying kidney disease. This study aimed to compare the incidence of adverse cardiovascular events and identify predictors of major adverse cardiovascular events in the medium term among patients with and without renal dysfunction following AMI. Methods: This retrospective cohort study was conducted on 1039 patients who were hospitalized for Acute Myocardial Infarction (AMI) between 2018 and 2019. The patient cohort comprised 314 women (mean age: 69.8 ± 13.2 years) and 725 men (mean age: 60.5 ± 13.8 years). Patient data were obtained from the registry of patients with acute myocardial infarction and the participants were followed up for a minimum of one year following hospital discharge to assess the incidence of MACE.Results: The study found that patients with a Glomerular Filtration Rate (GFR) level below 60 had a significantly higher mortality rate than those with a GFR level of 60 or above (15.7% vs. 3.5%,p < 0.0001). The multivariate analysis showed that Diabetes Mellitus (DM), GFR, and Non-ST Elevation Myocardial Infarction (NSTEMI) are significant risk factors for cardiovascular events. (p = 0.016, p = 0.015, p = 0.006 respectively), while variables such as sex, age, and Hypertension (HTN) were not significant risk factors. There was a negative correlation between GFR and death (0.241 - = r, p < 0.0001)Conclusion: This study highlights the importance of detecting kidney disease during an AMI and managing risk factors for cardiovascular disease to improve health outcomes and reduce the risk of mortality.
Background: Diabetic peripheral neuropathy is a symmetrical length-dependent sensorimotor polyneuropathy due to chronic hyperglycemia. The World Health Organization (WHO) identified diabetes as a major global health concern. Diabetic neuropathy is characterized by motor dysfunctions (weakness and atrophy) especially at the distal muscles of lower limbs, and impaired dynamic muscular control in type 2 diabetes patients. Symptoms start in a distal-to proximal pattern in the feet, and ankle and proximally in the hip and knee for both flexors and extensors. Proximal muscle weakness affects postural stability. Dorsiflexor weakness causes increased hip, knee flexion and metatarsophalangeal extension in the initial swing whereas weakness in plantar flexors causes a greater amount of hip and knee flexion during the stance phase.Methodology: 34 subjects with Diabetic Peripheral Neuropathy who fulfilled all the inclusion criteria were recruited for the study. Ethical standards have been maintained and informed consent was taken. Subjects were randomly assigned by lottery method into two groups, intervention, and control with 17 in each. Since it is a single blinded study subjects were blinded about the interventions provided. Pre and post-test scores were taken before and after 4 weeks using Surface Electromyography (sEMG), Kinovea Software, Functional Gait Assessment (FGA) and Short Form -36 (SF-36).Results: The pre and post-score values of the kinematics of gait, Functional Gait Assessment, and Short Form - 36 were analyzed using a Paired t-test and Wilcoxon Signed Rank test within the group analysis, Mann- Whitney U test and Independent t-test for between the group analysis. Both groups displayed notable variations, whereas the intervention group exhibited more significant differences (p < 0.05). Thus, it can be inferred that lower extremity training significantly improves gait kinematics and quality of life in diabetic neuropathy.Conclusion: Lower extremity training is effective in improving the kinematics of gait and quality of life in diabetic neuropathy.
Karabinta Y*, Konaté M, Karambé T, Keita ACF, Dicko A, Traoré C, Sylla O, Coulibaly S, Gassama M, Koné C, Dissa L and Pr Kéita S
Published on: 7th February, 2024
Introduction: Corticosteroid therapy is widely used in dermatology for treating various conditions. In France, the cost of corticosteroid treatment varies, and in Mali, a significant prevalence of corticosteroid-treated diseases has been reported. Given the prolonged treatment duration often required, understanding the cost implications in resource-limited settings is crucial.Patients and methods: This descriptive cross-sectional study took place at the dermatology department of the University Hospital Center of Dermatology in Bamako. Data were prospectively collected from patients undergoing corticosteroid therapy over one year. Variables included sociodemographic data, clinical information, and medication costs.Results: During the study period, 24 cases of dermatoses treated with corticosteroids were identified among 125 hospitalized patients, representing a prevalence of 19.2%. Most patients were women (58.3%), with an average age of 37.5 years. Lichen planus (54.2%) and pemphigus (37.5%) were the most common pathologies. Many patients had extensive lesions before treatment, but the majority responded well to corticosteroids.Discussion: Despite study limitations, such as its descriptive nature, it provided valuable insights into the economic evaluation of long-term corticosteroid therapy. The predominance of women, the age distribution, and the prevalence of specific dermatoses were highlighted. The study also revealed the substantial financial burden of corticosteroid treatment, primarily driven by direct costs.Conclusion: The study underscores the financial challenges associated with long-term corticosteroid therapy in dermatology in Mali. The high costs adversely affect patients and their families, especially considering the socioeconomic status of many patients. Moreover, the findings emphasize the importance of comprehensive care strategies and the need for accessible healthcare solutions to address these challenges effectively.
Neurologic diseases are recognized to have multifactorial origins well beyond mere genetic predisposition. Nutritional burdens have been identified to contribute to neurodegeneration. Healthy diets are becoming increasingly appreciated to potentially play key roles in both the developing and developed world of reducing incidences of neurologic diseases, while unhealthy diets are acknowledged to be contributing to their rise.
Emilio Vicente, Yolanda Quijano, Valentina Ferri and Riccardo Caruso
Published on: 16th February, 2024
Over the past 60 years, surgery has undergone a major transformation. Very possibly, this has been superior to those that occurred in all previous centuries. In this period of time, this specialty has reached all its splendor with a more integrated and complex exponential growth. Oncological surgery is a faithful exponent of this.
Amália Cinthia Meneses do Rêgo and Irami Araújo-Filho
Published on: 19th February, 2024
Sepsis, a life-threatening condition triggered by infection, poses a significant healthcare challenge with high mortality rates. The interplay between genetics and the immune response in sepsis, particularly in surgical and trauma patients, is complex and critical. Genetic polymorphisms, particularly in cytokine genes like TNF-α, IL-6, and IL-8, have been extensively studied for their influence on sepsis susceptibility, severity, and outcomes. Polymorphisms can alter gene expression and cytokine production, leading to variations in immune responses. Studies have also explored polymorphisms concerning sepsis in genes encoding CD86, TLR4, and SIRT6. This review highlights the association between genetic polymorphisms and inflammatory responses, focusing on their impact on sepsis outcomes in surgical and trauma patients. Genetic variations play a significant role in sepsis risk, severity, and prognosis, with potential implications for personalized therapeutic strategies. Biomarkers such as cytokine gene polymorphisms may aid in predicting sepsis risk and guiding treatment decisions. Complementary therapies like acupuncture and novel biomarkers like microvesicles carrying mitochondrial content provide additional avenues for personalized sepsis management. Furthermore, multiomics approaches offer promise in predicting postoperative outcomes in surgical patients. Understanding the genetic basis of sepsis is essential for improving prevention, diagnosis, and treatment, ultimately leading to better clinical outcomes. Combining genomics, bioinformatics, and clinical expertise, precision medicine can revolutionize sepsis management by tailoring interventions to individual genetic profiles, thus enhancing patient care and outcomes.
There are various Extra Blood Purification Therapies (EBPTs) used in the context of critical care, including but not limited to Acute Kidney Injury (AKI). These therapies aim to remove toxins, inflammatory mediators, and excess fluids from the bloodstream. While some blood purification therapies were initially developed for renal support, they have been explored for use in other medical conditions as well, including liver pathologies and sepsis. Here is a brief explanation of some therapies such as MARS (Molecular Adsorbents Recirculating System), Prometheus, CPFA (Coupled Plasma Filtration Adsorption), PAP (Plasma Adsorption), and SPAD (Single-Pass Albumin Dialysis). Some of these therapies have entered clinical use, while others have faced challenges, such as negative evidence, poor purifying efficacy, or difficulties in practical use. The field of extracorporeal liver support is dynamic, with ongoing developments aimed at improving the effectiveness and practicality of these therapies. Sorbents mark the latest frontiers in blood purification to remove various toxic molecules, with specific emphasis on the modulation of bilirubin and other substances in critically ill patients suffering from liver failure. In the above-mentioned pathologies, substances may be continuously generated within the body, and Mass Balance is the only valuable tool for distinguishing between generation and removal processes. The effectiveness of sorbents in removing bilirubin and bile acids, as demonstrated in both in vitro and in vivo studies, distinguishes them and shows their superiority over traditional liver cleansing methods, such as CPFA, PAP, SPAD, Prometheus, and MARS.
Priyanka Chauhan, Pratibha Verma and Aradhana Mishra*
Published on: 20th February, 2024
Endophytic microbes i.e. bacteria, fungi, and actinomycetes live inside the plant tissues without causing any harmful effect on them. Recently, research has been conducted on endophytic microbes to enhance agriculture and environmental sustainability. Endophytes stabilize a close association with their host, which leads to major changes in plant physiology. Endophytic microbes and pathogens use the same strategies for entering the host cell. This condition may create competition between the endophytes and the pathogen. Therefore, host plants develop strategies to allow the entry of specific microorganisms. Additionally, endophytic microorganisms may temper their own genetic structure to survive and avoid the host defence machinery. The plant-endophyte symbionts promote direct and indirect defences to host plants. This plays an essential role in modulating plant defences against various stresses, particularly biotic stress. In this minireview, we highlight the interaction of endophytic microbes with their host. As well as the role of endophytic microbes in the enhancement of plant defence systems.
Omobolanle David Garuba, Judith C Anglin, Sonya Good, Shodimu-Emmanuel Olufemi, Olubukola Monisola Oyawoye and Sodipe Ayodotun*
Published on: 21st February, 2024
Nutritious and safe foods are essential to meet normal physiological and metabolic functions. This study evaluated heavy metals in selected food products for newborns and toddlers. These substances may result in adverse health risks and young children are extremely vulnerable due to their immature immune systems and organs. Industrialization and technological advancement have contributed to an increase in heavy metals in the soil; therefore, entering the food system in potentially harmful amounts. Safe levels have been established by monitoring agencies to reduce the presence of heavy metals. Ten national brands of baby foods were analyzed for selected heavy metals. The main ingredients ranged from vegetables, fruits, dairy, poultry, meats, and grains. The products were analyzed in triplicates using QQQ-ICP-MS instrumentation to detect the presence of arsenic, cadmium, zinc, lead, nickel, aluminum, and chromium. Based on the Agency for Toxic Substances and Disease Registry [1] guidelines for safe quantities, aluminum (4.09 µg/g and 2.50 µg/g) and zinc (33.5 µg/g 69.5 µg/g, and 30.2 µg/g) exceeded the recommended levels of 1 µg/g/day and 2 - 3 µg/g /day respectively. Mixed model analysis found significant differences in metal concentrations (F6,24 = 2.75, p = 0.03) with an average metal concentration of 0.96 µg/g. However, no significant correlations were found between the packaging materials used and the observed metal concentrations in the food samples. The study concluded that the presence of heavy metals may be due to food type and the soil on which it is grown and not the packaging materials, establishing food system contamination by heavy metals.
Asma Hamoud Alruwaili* and Khaled Abdulaziz Alsaran and Abdulaziz Abdullah Alshathri
Published on: 6th March, 2024
Background: Long-term care for patients with chronic kidney disease, whether in the pre or post-dialysis period, has a destructive impact on patients and their caregivers that can significantly worsen their quality of life. Objectives: To assess the quality of life (QOL) among caregivers of children suffering from chronic kidney disease and to identify the possible factors affecting their quality of life. Subjects and methods: Between March 2023 and May 2023, a cross-sectional questionnaire-based study was conducted at King Saud Medical City for caregivers of all pediatric patients aged from 6 months to 14 years with CKD stage-3B and beyond who have been followed up for at least three months in the pre or post-dialysis period since 2015. The study applied the World Health Organization Quality of Life Questionnaire (WHOQOL-BREF) to evaluate the caregivers’ quality of life. Result: A total of 95 caregivers were involved in the study. The age ranged between 24 and 53 years, with an arithmetic mean of 39.3 and a standard deviation of (± 6.6) years, and almost two-thirds (65.3%) were Saudi nationals. Most pediatric patients were on peritoneal renal dialysis (41%), whereas 29.5% were on hemodialysis. The mean and SD of the overall score was 56.10 ± 17.40 out of a possible range of 0-100. Regarding its domains, the highest score was observed regarding the social domain (62.11 ± 21.12), whereas the lowest was the physical domain (49.55 ± 18.42). After controlling for confounding, married, high socio-economic, and more educated caregivers have higher QOL scores than singles, low socio-economic, and lower knowledgeable caregivers, and the three factors together were responsible for approximately 41% variability of the QOL score (r – square = 0.406). Bivariate Pearson correlation showed significant correlations among different quality-of-life domains (p < 0.001). Conclusion: There was a significant association between quality-of-life scores and demographic characteristics of chronic kidney disease caregivers; they need the highest support to cope with their delicate patients.
The history of the origin of the medical uses of Radioiodine (RAI) has been compromised by false narratives as recently as June 2023 in the “Thyroid “article “Radioactive Iodine: A Living History”. Primary sources document Dr. Saul Hertz (1905 - 1950) as solely conceiving of the medical uses of RAI, being the first and foremost to develop the experimental data, bringing RAI from bench to bedside, and extending the use of radionuclides to diagnose and/or treat cancer and other conditions. Dr Hertz predicted and worked toward conquering cancer with other radionuclides. Saul Hertz overcame the racism of his time, a world war interrupting his first clinical study, a strong pushback from the surgeons, and unethical medical publishing practices. Today, Nuclear Medicine, Radiopharmacy, Medical Physics, and other specialties are collaborating and actively building on Saul Hertz’s enduring foundational work.
Victor Abrukov*, Weiqiang Pang and Darya Anufrieva
Published on: 11th March, 2024
The combustion properties of energetic materials have been extensively studied in the scientific literature. With the rapid advancement of data science and artificial intelligence techniques, predicting the performance of solid rocket propellants (SRPs) has become a key focus for researchers globally. Understanding and forecasting the characteristics of SRPs are crucial for analyzing and modeling combustion mechanisms, leading to the development of cutting-edge energetic materials. This study presents a methodology utilizing artificial neural networks (ANN) to create multifactor computational models (MCM) for predicting the burning rate of solid propellants. These models, based on existing burning rate data, can solve direct and inverse tasks, as well as conduct virtual experiments. The objective functions of the models focus on burning rate (direct tasks) and pressure (inverse tasks). This research lays the foundation for developing generalized combustion models to forecast the effects of various catalysts on a range of SRPs. Furthermore, this work represents a new direction in combustion science, contributing to the creation of a High-Energetic Materials Genome that accelerates the development of advanced propellants.
Forensic laboratories face a backlog of case files, affecting service delivery, causing delays. The backlog points to underfunding, poor planning, and inadequate support, hindering deoxyribonucleic acid (DNA) analysis. Resolving casework backlogs may initially seem like a straightforward and attainable measure to improve the arrest of offenders and promote justice. Longer turnaround times impede investigative leads, emphasising the need for efficient strategies and a comprehensive approach to address and prevent backlogs in forensic laboratories. No study has been published on the forensic DNA backlogs in South Africa. The article explicitly addresses one aspect of a Doctor of Philosophy study and aims to ascertain the impact of backlogs in forensic DNA case entries. The study article’s research questions included the following: “What cases are considered as backlog?”; “What is the current backlog in forensic DNA case entries in South Africa?” and “What are the main reasons for the backlog of cases involving forensic DNA?” The prompt processing of DNA evidence is vital not only for safeguarding individuals falsely accused of crimes based on circumstantial evidence but also for aiding prosecutors and providing justice for crime victims.
Cells have emerged as highly promising vehicles for delivering drugs due to their unique advantages. They have the ability to bypass immune recognition, navigate biological barriers, and reach difficult-to-access tissues through sensing and active movement. Over the past couple of decades, extensive research has been conducted to understand how cell carriers can overcome biological barriers and influence drug effectiveness. This has resulted in the development of engineered cells for targeted drug delivery to specific tissues. Despite the presence of exciting developments, a comprehensive understanding of the challenges and potential strategies is necessary for the effective clinical application of cell-based drug carriers. This review provides an overview of recent progress and novel concepts in cell-based drug carriers, as well as their potential for translation into clinical practice. Additionally, we delve into important factors and emerging strategies for designing the next generation of cell-based delivery technologies, with a particular emphasis on achieving greater accuracy and targeted drug administration.
Introduction: In the latest WHO classification of central nervous system tumors, Mitotic Index (MI) counted on Phosphohistone-H3 stained slides (pHH3-MI) has been suggested as a valid proliferative marker in various tumors including in the evaluation of meningioma grading.We aim to report our own experience in assessing the efficiency of the anti-pHH3 antibody as a grading tool for meningiomas.Methods: A retrospective study was conducted on a series of 40 meningiomas diagnosed from March 2020 to April 2021 at the Pathology Department of the Military Hospital of Tunis. We attempted immunohistochemistry and compared MI assessed on both pHH3 and HE-stained slides.Results: According to the HE-MI and pHH3-MI, the 40 cases of meningiomas were respectively divided into 35 versus 29 grade 1 cases, four versus eight grade 2 cases, and one versus three grade 3 cases. A highly significant correlation was found between pHH3-MI and HE-MI (p < 0.001). A significantly higher sensitivity in the pHH3 counting method was reported in our study. Discussion: we found, in accordance with the literature, that pHH3-MI is more reliable and accurate in mitotic counting, therefore exhibiting a high sensitivity in tumor grading, reported by an upgrade within 22,5% of the cases.Conclusion: PHH3-MI count facilitated a rapid reliable grading of meningiomas. However, molecular characteristics that could have a potentially significant impact on tumor progression should be the subject of further research.
Alessandra Alfieri, Armando Rapanà and Ferdinando Caranci
Published on: 26th March, 2024
Craniopharyngiomas are benign tumors (WHO Grade I), seen in children and adults. Because of their location, they can require challenging clinical and surgical management. In fact, often, because of the presence of calcifications, of a capsule very strongly adherent to neurovascular structures, of the relationship with hypophysis, pituitary stalk, chiasm, carotids, the circle of Willis, basilar artery, and third ventricle, risk of mortality and morbidity is still mandatory. Various surgical techniques have been proposed: transcranial, transsphenoidal, and supraorbital approaches for surgical resection and treatment of craniopharyngiomas. Still, there is no common consent, but often the endonasal transsphenoidal extended procedures are considered the gold standard in many cases. We present a surgical technique of a case of complete surgical removal of an infundibular and retro chiasmatic craniopharyngioma, via an endoscopic endonasal transphenoidal transplanum approach.
Alicia Cárdenas García*, Sara García Mateo, María Sol González Bennike, Berta Alonso García, María Teresa Gómez Álvarez, Francisco de Borja Hernández Moreno and Clara Ponce Aceituno
Published on: 26th March, 2024
In this case report a 64-year-old male patient with recent past medical history of head injury complicated by zygomatic arc fracture and mild subarachnoid hemorrhage is studied. He had been presented to the Emergency Department because of progressive neurological symptoms and neurological deficits in the physical examination that could have been indicating subcacute subdural hemorrhage. However, the patient was reluctant to undergo diagnostic imaging due to concerns about radiation exposure. After several explanations, a CT scan was done, which revealed a bilateral subacute subdural hematoma. Neurosurgical management was initiated and intravenous corticosteroid therapy was administered to reduce local edema. The challenge of this case is based on the subtlety of symptoms that might cause patients to delay seeking medical attention. Additionally, patient reluctance to undergo diagnostic tests can complicate management, emphasizing the importance of patient education and therapeutic alliance. Multidisciplinary management involving Neurology and Neurosurgery is crucial for optimal patient care in such cases. This report underscores the significance of effective communication and collaborative decision-making between healthcare providers and patients to ensure timely and appropriate management of complex medical conditions.
Aparupa Bose Mazumdar Ghosh and Sharmila Chattopadhyay*
Published on: 27th March, 2024
Phyllanthus amarus Schum. and Thonn., a plant of substantial medicinal significance, is known for its usage in the ‘Ayurvedic’ system of medicine for over 2000 years. This herb grows throughout the world including India. P. amarus along with other species of its genus has been a vital part of several herbal formulations available in the Indian market under the trade name Bhuiamlaki. Several pharmacognostic evaluations over the years established the genus Phyllanthus of great commercial value. Ethnopharmacological studies conducted with P. amarus to date have shown its diverse therapeutic usage globally. This owes to the vast array of secondary metabolites present in the herb, substantially in the leaf tissue. Different analytical and phytochemistry studies performed across the globe revealed that P. amarus is a hub of various classes of secondary metabolites viz. lignans like phyllanthin, hypophyllanthin, flavonoids, alkaloids, triterpenes, sterols, volatile oil, ellagitannins including simple and complex tannins, etc. Different analytical techniques have been employed over the past years for isolating and studying these varied secondary metabolites. Further, bioactivities and pharmacological properties of P. amarus that were mainly due to the presence of these wide arrays of secondary metabolites have also been explored extensively across the globe by several research groups. This plant has also been explored at molecular and transcriptome level, although relatively lesser but its extensive molecular and transcriptome analysis have only been performed from our lab. Thus, P. amarus has considerable potential to be explored in the future as a significant therapeutic source not only in the traditional medicinal system but also in the modern pharmaceutical industry.
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Ekiti State University, Nigeria
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Department of Biotechnology, Uttaranchal college of Applied and Life Sciences, Uttaranchal University, Dehradun, Uttarakhand, India
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