Journal of Basic and Clinical Physiology and Pharmacology最新文献

{"title":"A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.","authors":"Hina Qasim, Hayat Khan, Humaira Zeb, Akmal Ahmad, Muhammad Ilyas, Muhammad Zahoor, Muhammad Naveed Umar, Riaz Ullah, Essam A Ali","doi":"10.1515/jbcpp-2024-0031","DOIUrl":"10.1515/jbcpp-2024-0031","url":null,"abstract":"<p><strong>Objectives: </strong>Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of Pakistan.</p><p><strong>Methods: </strong>The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant.</p><p><strong>Results: </strong>Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the <i>FLNB</i> gene which was homozygous missense mutation in the <i>FLNB</i> gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before.</p><p><strong>Conclusions: </strong>The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The underlying causes, treatment options of gut microbiota and food habits in type 2 diabetes mellitus: a narrative review.","authors":"Krishnendu Adhikary, Riya Sarkar, Sriparna Maity, Ipsita Banerjee, Prity Chatterjee, Koushik Bhattacharya, Deepika Ahuja, Nirmalya Kumar Sinha, Rajkumar Maiti","doi":"10.1515/jbcpp-2024-0043","DOIUrl":"10.1515/jbcpp-2024-0043","url":null,"abstract":"<p><p>Type 2 diabetes mellitus is a long-lasting endocrine disorder characterized by persistent hyperglycaemia, which is often triggered by an entire or relative inadequacy of insulin production or insulin resistance. As a result of resistance to insulin (IR) and an overall lack of insulin in the body, type 2 diabetes mellitus (T2DM) is a metabolic illness that is characterized by hyperglycaemia. Notably, the occurrence of vascular complications of diabetes and the advancement of IR in T2DM are accompanied by dysbiosis of the gut microbiota. Due to the difficulties in managing the disease and the dangers of multiple accompanying complications, diabetes is a chronic, progressive immune-mediated condition that plays a significant clinical and health burden on patients. The frequency and incidence of diabetes among young people have been rising worldwide. The relationship between the gut microbiota composition and the physio-pathological characteristics of T2DM proposes a novel way to monitor the condition and enhance the effectiveness of therapies. Our knowledge of the microbiota of the gut and how it affects health and illness has changed over the last 20 years. Species of the genus Eubacterium, which make up a significant portion of the core animal gut microbiome, are some of the recently discovered 'generation' of possibly helpful bacteria. In this article, we have focused on pathogenesis and therapeutic approaches towards T2DM, with a special reference to gut bacteria from ancient times to the present day.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating Majhool date (Phoenix dactylifera) consumption effects on fasting blood glucose in animals and humans.","authors":"Yazun Jarrar, Ruba Balasmeh, Wisam Naser, Rami Mosleh, Amin A Al-Doaiss, Mohammed Ali AlShehri","doi":"10.1515/jbcpp-2024-0049","DOIUrl":"10.1515/jbcpp-2024-0049","url":null,"abstract":"<p><strong>Objectives: </strong>Majhool date (<i>Phoenix dactylifera</i>), renowned for its premium taste and texture, is extensively consumed in the Islamic world, particularly during Ramadan. Despite its popularity, concerns persist regarding its potential to induce diabetes in non-patients. This study aims to explore the diabetogenic effects of prolonged Majhool date (<i>Phoenix dactylifera</i>) consumption, the widely used fruit in the Islamic world, through animal experiments and human clinical data.</p><p><strong>Methods: </strong>Medjool dates were processed into an ethanolic extract for the animal experiment. Then, 21 <i>Balb/c</i> mice received varying doses of the extract for one month. The fasting blood glucose levels were analyzed at the beginning and after one month of consumption of the Majhool date extract. For the clinical study, 387 healthy participants were recruited, with fasting blood glucose levels assessed before and after Ramadan, a period of heightened Majhool date consumption.</p><p><strong>Results: </strong>all groups of the experimental animals exhibited a significant (p<0.05) weight increase after Majhool date consumption, while no significant (p>0.05) alteration in fasting blood glucose levels among groups. In addition, it was found that fasting blood glucose levels remained statistically unchanged (p>0.05) after heightened Majhool date consumption among humans.</p><p><strong>Conclusions: </strong>The study challenges the belief that Majhool date induces diabetes, supported by both animal and human data. Findings suggest that Majhool date consumption, even at higher doses, does not induce diabetes. Further investigations could explore the impact of other date varieties on the fasting blood glucose levels.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cannabis effectiveness on immunologic potency of pulmonary contagion.","authors":"Sumana Das, Arya Ghosh, Varnita Karmakar, Sourav Khawas, Piyush Vatsha, Kishor Kumar Roy, Padma Charan Behera","doi":"10.1515/jbcpp-2023-0030","DOIUrl":"https://doi.org/10.1515/jbcpp-2023-0030","url":null,"abstract":"Respiratory illnesses and its repercussions are becoming more prevalent worldwide. It is necessary to research both innovative treatment and preventative techniques. Millions of confirmed cases and fatalities from the COVID-19 epidemic occurred over the previous two years. According to the review research, cannabinoids are a class of medicines that should be considered for the treatment of respiratory conditions. Cannabinoids and inhibitors of endocannabinoid degradation have illustrated advantageous anti-inflammatory, asthma, pulmonary fibrosis, and pulmonary artery hypotension in numerous studies (in vitro and in vivo). It has been also noted that CB2 receptors on macrophages and T-helper cells may be particularly triggered to lower inflammation in COVID-19 patients. Since the majority of lung tissue contains cannabinoid receptors, cannabis can be an effective medical tool for treating COVID-19 as well as pulmonary infections. Notably, CB2 and CB1 receptors play a major role in immune system modulation and anti-inflammatory activities. In this review, we put forth the idea that cannabis might be helpful in treating pulmonary contagion brought on by viral integration, such as that caused by SARS-CoV-2, haemophilus influenza type b, Streptococcus pneumoniae, influenza virus, and respiratory syncytial virus. Also, a detailed overview of CB receptors, intricate mechanisms, is highlighted connecting link with COVID-19 viral structural modifications along with molecular basis of CB receptors in diminishing viral load in pulmonary disorders supported through evident literature studies. Further, futuristic evaluations on cannabis potency through novel formulation development focusing on in vivo/in vitro systems can produce promising results.","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140682816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How should we differentiate hypoglycaemia in non-diabetic patients?","authors":"Michele Modestino, Olimpia Iacono, Laura Ferrentino, Anna Lombardi, Umberto De Fortuna, Rita Verdoliva, M. De Luca, Vincenzo Guardasole","doi":"10.1515/jbcpp-2024-0030","DOIUrl":"https://doi.org/10.1515/jbcpp-2024-0030","url":null,"abstract":"Hypoglycaemic syndromes are rare in apparently healthy individuals and their diagnosis can be a difficult challenge for clinicians as there are no shared guidelines that suggest how to approach patients with a suspect hypoglycaemic disorder. Since hypoglycaemia symptoms are common and nonspecific, it's necessary to document the Whipple Triad (signs and/or symptoms compatible with hypoglycaemia; relief of symptoms following glucose administration; low plasma glucose levels) before starting any procedure. Once the triad is documented, a meticulous anamnesis and laboratory tests (blood glucose, insulin, proinsulin, C-peptide, β-hydroxybutyrate and anti-insulin antibodies) should be performed. Results can guide the physician towards further specific tests, concerning the suspected disease. In this review, we consider all current causes of hypoglycaemia, including rare diseases such as nesidioblastosis and Hirata's syndrome, describe appropriate tests for diagnosis and suggest strategies to differentiate hypoglycaemia aetiology.","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140695338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pozelimab, a human monoclonal immunoglobulin for the treatment of CHAPLE disease.","authors":"Manmeet Kaur, Saurav Misra","doi":"10.1515/jbcpp-2024-0008","DOIUrl":"https://doi.org/10.1515/jbcpp-2024-0008","url":null,"abstract":"The complement is a crucial factor of the innate immune system. However, its activation can lead to various diseases, so it needs to be controlled. In mammals, surface-bound complement regulatory proteins safeguard cells from uncontrolled complement-mediated lysis. One of the human complement regulators is CD55, also known as the decay-accelerating factor (DAF), a single-chain, type I cell surface protein anchored to glycosylphosphatidylinositol (GPI). The genetic loss of the complement regulatory protein CD55 leads to a fatal illness known as CHAPLE disease. The complement and innate immunity become hyperactive in this disease, causing angiopathic thrombosis and protein-losing enteropathy. Patients with CHAPLE disease experience abdominal pain, nausea, vomiting, diarrhea, loss of appetite, weight loss, impaired growth, and swelling. This genetic condition has no known cure, and managing its symptoms can be challenging. Pozelimab, a human monoclonal immunoglobulin IgG4 antibody, is a drug that targets the terminal complement protein C5. The drug has a high affinity for both wild-type and variant human C5. Pozelimab has received designations such as fast track, orphan drug, and rare pediatric disease, making it a significant medical breakthrough. It is currently the only available treatment for this disease. In this review, we have summarized the preclinical and clinical data on pozelimab.","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140716149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alzheimer's disease and clinical trials.","authors":"Deepraj Paul, Rohini Agrawal, Swati Singh","doi":"10.1515/jbcpp-2023-0264","DOIUrl":"10.1515/jbcpp-2023-0264","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is spreading its root disproportionately among the worldwide population. Many genes have been identified as the hallmarks of AD. Based upon the knowledge, many clinical trials have been designed and conducted. Attempts have been made to alleviate the pathology associated with AD by targeting the molecular products of these genes. Irrespective of the understanding on the genetic component of AD, many clinical trials have failed and imposed greater challenges on the path of drug discovery. Therefore, this review aims to identify research and review articles to pinpoint the limitations of drug candidates (thiethylperazine, CT1812, crenezumab, CNP520, and lecanemab), which are under or withdrawn from clinical trials. Thorough analysis of the cross-talk pathways led to the identification of many confounding factors, which could interfere with the success of clinical trials with drug candidates such as thiethylperazine, CT1812, crenezumab, and CNP520. Though these drug candidates were enrolled in clinical trials, yet literature review shows many limitations. These limitations raise many questions on the rationale behind the enrollments of these drug candidates in clinical trials. A meticulous prior assessment of the outcome of clinical studies may stop risky clinical trials at their inceptions. This may save time, money, and resources.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Dr. Google to CE-marked medical devices: need for ethical and legal safeguards.","authors":"Mariagrazia Marisei, Enrico Sicignano, Biagio Barone, Felice Crocetto, Luigi Napolitano","doi":"10.1515/jbcpp-2024-0020","DOIUrl":"10.1515/jbcpp-2024-0020","url":null,"abstract":"","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-intensity combination exercise has the highest effect on increasing serum irisin and interleukin 6 levels in women with obesity.","authors":"Uswatun Hasanah, Purwo Sri Rejeki, Citrawati Dyah Kencono Wungu, Adi Pranoto, Nabilah Izzatunnisa, Ilham Rahmanto, Shariff Halim","doi":"10.1515/jbcpp-2023-0150","DOIUrl":"10.1515/jbcpp-2023-0150","url":null,"abstract":"<p><strong>Objectives: </strong>Lifestyle, overnutrition, socioeconomic status, environmental conditions, and genetics are factors that cause obesity. Lifestyle modification with a nonpharmacological approach based on physical exercise is the starting point in overcoming obesity. However, physical exercise with the appropriate and effective intensity for obese subjects is still debated. Therefore, this study aims to prove the effect of intensity differences with aerobic-resistance combination exercise on increasing irisin and IL-6 levels in obese women.</p><p><strong>Methods: </strong>A total of 32 obese women were selected as subjects and administered the interventions of low-intensity combination exercise (Q₂), moderate-intensity combination exercise (Q₃), and high-intensity combination exercise (Q₄). ELISA was used to measure irisin and IL-6 levels in all samples. Statistical analysis used one-way ANOVA and Turkey's-Honest Significant Difference (HSD) post hoc test.</p><p><strong>Results: </strong>The mean Δ IL-6 levels in the control groups (Q₁), Q₂, Q₃, and Q₄ were 0.27 ± 2.54, 2.07 ± 2.55, 5.99 ± 6.25, and 7.98 ± 2.82 pg/mL with (p=0.015). The mean Δ irisin levels were 0.06 ± 0.81 ng/mL in Q₁, 0.59 ± 0.67 ng/mL in Q₂, 1.99 ± 1.65 ng/mL in Q₃, 4.63 ± 3.57 ng/mL in Q₄ with (p=0.001).</p><p><strong>Conclusions: </strong>This study proved that all three types of combined exercise intensity increased myokine levels, such as irisin and IL-6. However, high-intensity combination exercise provided the most optimal improvement in myokine levels in obese women. Future studies are needed to design long-term exercise programs specifically for obese adolescent women using the findings from this study.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protecting cardiomyocytes from hypoxia-reoxygenation injury, empaglifozin and liraglutide alone or in combination?","authors":"Francesca Amici, Christian Ciarlo, Jenine Abumusallam, Madeline Kravitz, Angel-Rose Weber, Hanna Meister, Zhao Li","doi":"10.1515/jbcpp-2023-0029","DOIUrl":"10.1515/jbcpp-2023-0029","url":null,"abstract":"<p><strong>Objectives: </strong>Empagliflozin, a sodium-dependent glucose co-transporter 2 (SGLT2) inhibitor, and liraglutide, a GLP-1 receptor (GLP-1R) agonist, are commonly recognized for their cardiovascular benefits in individuals with type 2 diabetes (T2D). In prior studies, we have demonstrated that both drugs, alone or in combination, were able to protect cardiomyocytes from injury induced by diabetes. Mechanistic investigations also suggested that the cardioprotective effect may be independent of diabetes In this study, we utilized a hypoxia-reoxygenation (H/R) model to investigate the cardiovascular benefits of SGLT2 inhibitor empagliflozin and GLP-1 receptor (GLP-1R) agonist liraglutide, both alone and in combination, in the absence of T2D. Our hypothesis was that empagliflozin and liraglutide, either individually or in combination, would demonstrate cardioprotective properties against H/R-induced injury, with an additive and/or synergistic effect anticipated from combination therapy.</p><p><strong>Methods: </strong>In this study, the cardiac muscle cell line, HL-1 cells, were treated with vehicle, empagliflozin, liraglutide, or a combination of the two drugs. The cells were then subjected to a hypoxia-reoxygenation (H/R) protocol, consisting of 1 h of hypoxia followed by 24 h of reoxygenation. The effects of the treatments on cytotoxicity, oxidative stress, endothelial nitric oxide synthase (eNOS) activity, phospho-protein kinase C (PKC) beta and phospho-eNOS (Thr⁴⁹⁵) expression were subsequently evaluated at the end of the treatments.</p><p><strong>Results: </strong>We found that H/R increased cytotoxicity and reduces eNOS activity, empagliflozin, liraglutide or combination treatment attenuated some or all of these effects with the combination therapy showing the greatest improvement.</p><p><strong>Conclusions: </strong>Empagliflozin, liraglutide or combination of these two have cardioprotective effect regardless of diabetes. Cardioprotective effects of SGLT2 inhibitor and GLP-1R agonist is additive and synergistic.</p>","PeriodicalId":15352,"journal":{"name":"Journal of Basic and Clinical Physiology and Pharmacology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}