World journal of experimental medicine最新文献

{"title":"Future clinical prospects of C-peptide testing in the early diagnosis of gestational diabetes","authors":"C. Milionis, Ioannis Ilias, Anastasia Lekkou, E. Venaki, E. Koukkou","doi":"10.5493/wjem.v14.i1.89320","DOIUrl":"https://doi.org/10.5493/wjem.v14.i1.89320","url":null,"abstract":"Gestational diabetes is typically diagnosed in the late second or third trimester of pregnancy. It is one of the most common metabolic disorders among expectant mothers, with potential serious short- and long-term complications for both maternal and offspring health. C-peptide is secreted from pancreatic beta-cells into circulation in equimolar amounts with insulin. It is a useful biomarker to estimate the beta-cell function because it undergoes negligible hepatic clearance and consequently it has a longer half-life compared to insulin. Pregnancy induces increased insulin resistance due to physiological changes in hormonal and metabolic homeostasis. Inadequate compensation by islet beta-cells results in hyperglycemia. The standard oral glucose tolerance test at 24-28 wk of gestation sets the diagnosis. Accumulated evidence from prospective studies indicates a link between early pregnancy C-peptide levels and the risk of subsequent gestational diabetes. Elevated C-peptide levels and surrogate glycemic indices at the beginning of pregnancy could prompt appropriate strategies for secondary prevention.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"29 35","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140225966","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":"COVID-19 mortality paradox (United States vs Africa): Mass vaccination vs early treatment","authors":"Mina T. Kelleni","doi":"10.5493/wjem.v14.i1.88674","DOIUrl":"https://doi.org/10.5493/wjem.v14.i1.88674","url":null,"abstract":"The coronavirus disease 2019 (COVID-19) mortality rate in 55 African countries is almost 4.5 times lower than in the coronavirus disease 2019 (COVID-19) despite Africa having over 4.2 times more people. This mortality paradox is also evident when comparing Nigeria, a heavily populated, poorly vaccinated and weakly mandated country to Israel, a small, highly vaccinated and strictly mandated country. Nigeria has almost 4 times lower COVID mortality than Israel. In this Field of Vision perspective, I explain how this paradox has evolved drawing upon my academic, clinical and social experience. Since April 2020, I’ve developed and been using the Egyptian immune-modulatory Kelleni’s protocol to manage COVID-19 patients including pediatric, geriatric, pregnant, immune-compromised and other individuals suffering from multiple comorbidities. It’s unfortunate that severe acute respiratory syndrome coronavirus 2 is still evolving accompanied by more deaths. However in Africa, we’ve been able to live without anxiety or mandates throughout the pandemic because we trust science and adopted early treatment using safe, and effective repurposed drugs that have saved the majority of COVID-19 patients. This article represents an African and Egyptian tale of honor.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"355 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140227852","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":"Predictors of disease recurrence after radical resection and adjuvant chemotherapy in patients with stage IIb-IIIa squamous cell lung cancer: A retrospective analysis","authors":"M. Senchukova, E. A. Kalinin, Nadezhda N Volchenko","doi":"10.5493/wjem.v14.i1.89319","DOIUrl":"https://doi.org/10.5493/wjem.v14.i1.89319","url":null,"abstract":"BACKGROUND\u0000 Lung cancer (LC) is a global medical, social and economic problem and is one of the most common cancers and the leading cause of mortality from malignant neoplasms. LC is characterized by an aggressive course, and in the presence of disease recurrence risk factors, patients, even at an early stage, may be indicated for adjuvant therapy to improve survival. However, combined treatment does not always guarantee a favorable prognosis. In this regard, establishing predictors of LC recurrence is highly important both for determining the optimal treatment plan for the patients and for evaluating its effectiveness.\u0000 AIM\u0000 To establish predictors of disease recurrence after radical resection and adjuvant chemotherapy in patients with stage IIb-IIIa lung squamous cell carcinoma (LSCC).\u0000 METHODS\u0000 A retrospective case-control cohort study included 69 patients with LSCC who underwent radical surgery at the Orenburg Regional Clinical Oncology Center from 2009 to 2018. Postoperatively, all patients received adjuvant chemotherapy. Histological samples of the resected lung were stained with Mayer's hematoxylin and eosin and examined under a light microscope. Univariate and multivariate analyses were used to identify predictors associated with the risk of disease recurrence. Receiver operating characteristic curves were constructed to discriminate between patients with a high risk of disease recurrence and those with a low risk of disease recurrence. Survival was analyzed using the Kaplan-Meier method. The log-rank test was used to compare survival curves between patient subgroups. Differences were considered to be significant at P < 0.05.\u0000 RESULTS\u0000 The following predictors of a high risk of disease recurrence in patients with stage IIb-IIa LSCC were established: a low degree of tumor differentiation [odds ratio (OR) = 7.94, 95%CI = 1.08-135.81, P = 0.049]; metastases in regional lymph nodes (OR = 5.67, 95%CI = 1.09-36.54, P = 0.048); the presence of loose, fine-fiber connective tissue in the tumor stroma (OR = 21.70, 95%CI = 4.27-110.38, P = 0.0002); and fragmentation of the tumor solid component (OR = 2.53, 95%CI = 1.01-12.23, P = 0.049). The area under the curve of the predictive model was 0.846 (95%CI = 0.73-0.96, P < 0.0001). The sensitivity, accuracy and specificity of the method were 91.8%, 86.9% and 75.0%, respectively. In the group of patients with a low risk of LSCC recurrence, the 1-, 2- and 5-year disease-free survival (DFS) rates were 84.2%, 84.2% and 75.8%, respectively, while in the group with a high risk of LSCC recurrence the DFS rates were 71.7%, 40.1% and 8.2%, respectively (P < 0.00001). Accordingly, in the first group of patients, the 1-, 2- and 5-year overall survival (OS) rates were 94.7%, 82.5% and 82.5%, respectively, while in the second group of patients, the OS rates were 89.8%, 80.1% and 10.3%, respectively (P < 0.00001).\u0000 CONCLUSION\u0000 The developed method allows us to identify a group of patients at high risk of disease recu","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"55 S268","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140224295","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":"In vitro study on the transmission of multidrug-resistant bacteria from textiles to pig skin","authors":"Pavlina Lena, S. Karageorgos, Maria Liatsou, A. Agouridis, N. Spernovasilis, D. Lamnisos, Panagiotis Papageorgis, C. Tsioutis","doi":"10.5493/wjem.v13.i5.134","DOIUrl":"https://doi.org/10.5493/wjem.v13.i5.134","url":null,"abstract":"BACKGROUND\u0000 The survival of microorganisms on textiles and specifically on healthcare professionals’ (HCP) attire has been demonstrated in several studies. The ability of microorganisms to adhere and remain on textiles for up to hours or days raises questions as to their possible role in transmission from textile to skin via HCP to patients.\u0000 AIM\u0000 To evaluate the presence, survival and transmission of different multidrug-resistant bacteria (MDRB) from HCP attire onto skin.\u0000 METHODS\u0000 Three MDRB [methicillin-resistant Staphylococcus aureus (MRSA); vancomycin-resistant Enterococcus faecium (VRE); carbapenem-resistant Klebsiella pneumoniae , CRKP)] were inoculated on textiles from scrubs (60% cotton-40% polyester) and white coat (100% cotton) at concentrations of 108 colony-forming units (CFU), 105 CFU, and 103 CFU per mL. The inoculation of swatches was divided in time intervals of 1 min, 5 min, 15 min, 30 min, 1 h, 2 h, 3 h, 4 h, 5 h, and 6 h. At the end of each period, textiles were imprinted onto pig skins and each skin square was inverted onto three different selective chromogenic media. Growth from the pig skin squares was recorded for the 3 MDRB at the three above concentrations, for the whole length of the 6-h experiment.\u0000 RESULTS\u0000 MRSA was recovered from pig skins at all concentrations for the whole duration of the 6-h study. VRE was recovered from the concentration of 108 CFU/mL for 6 h and from 105 CFU/mL for up to 3 h, while showing no growth at 103 CFU/mL. CRKP was recovered from 108 CFU/mL for 6 h, up to 30 min from 105 CFU/mL and for 1 min from the concentration of 103 CFU/mL.\u0000 CONCLUSION\u0000 Evidence from the current study shows that MRSA can persist on textiles and transmit to skin for 6 h even at low concentrations. The fact that all MDRB can be sustained and transferred to skin even at lower concentrations, supports that textiles are implicated as vectors of bacterial spread.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"80 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138956901","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":"Ground level utility of Access, Watch, Reserve classification: Insights from a tertiary care center in North India","authors":"Gunjita Negi, Arjun Kb, Prasan Kumar Panda","doi":"10.5493/wjem.v13.i5.123","DOIUrl":"https://doi.org/10.5493/wjem.v13.i5.123","url":null,"abstract":"BACKGROUND\u0000 The overuse and misuse of antimicrobials contribute significantly to antimicrobial resistance (AMR), which is a global public health concern. India has particularly high rates of AMR, posing a threat to effective treatment. The World Health Organization (WHO) Access, Watch, Reserve (AWaRe) classification system was introduced to address this issue and guide appropriate antibiotic prescribing. However, there is a lack of studies examining the prescribing patterns of antimicrobials using the AWaRe classification, especially in North India. Therefore, this study aimed to assess the prescribing patterns of antimicrobials using the WHO AWaRe classification in a tertiary care centre in North India.\u0000 AIM\u0000 To study the prescribing patterns of antimicrobials using WHO AWaRe classification through a cross-sectional study in All India Institute of Medical Sciences Rishikesh.\u0000 METHODS\u0000 A descriptive, cross-sectional study was conducted from July 2022 to August 2022 at a tertiary care hospital. Prescriptions containing at least one antimicrobial were included in the study. Data on prescriptions, including patient demographics, departments, types of antimicrobials prescribed, and duration of treatment, were collected. A questionnaire-based survey was also conducted to assess the knowledge and practices of prescribing doctors regarding the utility of AWaRe classification.\u0000 RESULTS\u0000 The study involved a total of 123 patients, each of whom received at least one antimicrobial prescription. Most prescriptions were for inpatients, evenly distributed between Medicine (Internal medicine, Pediatrics, Dermatology) and Surgical departments (General surgery and specialties, Otorhinolaryngology, Ophthalmology, Obstetrics and Gynecology). Metronidazole and ceftriaxone were the most prescribed antibiotics. According to the AWaRe classification, 57.61% of antibiotics fell under the Access category, 38.27% in Watch, and 4.11% in Reserve. Most Access antibiotics were prescribed within the Medicine department, and the same department also exhibited a higher frequency of Watch antibiotics prescriptions. The questionnaire survey showed that only a third of participants were aware of the AWaRe classification, and there was a lack of knowledge regarding AMR and the potential impact of AWaRe usage.\u0000 CONCLUSION\u0000 This study highlights the need for better antimicrobial prescribing practices and increased awareness of the WHO AWaRe classification and AMR among healthcare professionals. The findings indicate a high proportion of prescriptions falling under the Access category, suggesting appropriate antibiotic selection. However, there is a significant difference between the WHO Defined Daily Dose and the prescribed daily dose in the analysed prescriptions suggesting overuse and underuse of antibiotics. There is room for improvement and educational interventions and antimicrobial stewardship programs should be implemented to enhance knowledge and adherence to guidelines, ultim","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"31 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138954986","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":"Research on nanosciences involvement in pharmaceutical education should be reinforced","authors":"Zheng-Wei Huang, Ye-Qi Huang","doi":"10.5493/wjem.v13.i5.156","DOIUrl":"https://doi.org/10.5493/wjem.v13.i5.156","url":null,"abstract":"Inclusion of nanoscience in pharmaceutical education should be reinforced, in order to match the demand of current pharmaceutical talent cultivation.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"129 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138953459","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":"Altered expression of miR-125a and dysregulated cytokines in systemic lupus erythematosus: Unveiling diagnostic and prognostic markers","authors":"Tagreed Qassim Alsbihawi, Mojtaba Zare Ebrahimabad, Fakhri Sadat Seyedhosseini, Homa Davoodi, N. Abdolahi, Alireza Nazari, Saeed Mohammadi, Y. Yazdani","doi":"10.5493/wjem.v13.i5.102","DOIUrl":"https://doi.org/10.5493/wjem.v13.i5.102","url":null,"abstract":"BACKGROUND\u0000 Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder impacting multiple organs, influenced by genetic factors, especially those related to the immune system. However, there is a need for new biomarkers in SLE. MicroRNA-125a (miR-125a) levels are decreased in T cells, B cells, and dendritic cells of SLE patients. MiR-125a plays a regulatory role in controlling the levels of tumor necrosis factor-alpha (TNF-α) and interleukin 12 (IL-12), which are crucial pro-inflammatory cytokines in SLE pathogenesis.\u0000 AIM\u0000 To assess the levels of miR-125a, IL-12, and TNF-α in SLE patients’ plasma, evaluating their diagnostic and prognostic value.\u0000 METHODS\u0000 The study included 100 healthy individuals, 50 newly diagnosed (ND), and 50 SLE patients undergoing treatment. The patients were monitored for a duration of 24 wk to observe and record instances of relapses. MiR-125a expression was measured using real-time reverse transcription polymerase chain reaction, while ELISA kits were used to assess IL-12 and TNF-α production.\u0000 RESULTS\u0000 The results showed significantly reduced miR-125a expression in SLE patients compared to healthy individuals, with the lowest levels in ND patients. TNF-α and IL-12 expression levels were significantly elevated in SLE patients, especially in the early stages of the disease. Receiver operating characteristic curve analyses, and Cox-Mantel Log-rank tests indicated miR-125a, TNF-α, and IL-12 as proper diagnostic biomarkers for SLE. A negative correlation was found between plasma miR-125a expression and IL-12/TNF-α levels in SLE patients.\u0000 CONCLUSION\u0000 Decreased miR-125a levels may be involved in the development of SLE, while elevated levels of IL-12 and TNF-α contribute to immune dysregulation. These findings offer new diagnostic and prognostic markers for SLE. Moreover, the negative correlation observed suggests an interaction between miR-125a, TNF-α, and IL-12. Further research is necessary to uncover the underlying mechanisms that govern these relationships.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"39 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138957283","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":"Red cell distribution width: A predictor of the severity of hypertriglyceridemia-induced acute pancreatitis","authors":"Yongcai Lv, Yanhua Yao, Juan Zhang, Yu-Jie Wang, Jing-Jing Lei","doi":"10.5493/wjem.v13.i5.115","DOIUrl":"https://doi.org/10.5493/wjem.v13.i5.115","url":null,"abstract":"BACKGROUND\u0000 Compared with patients with other causes of acute pancreatitis, those with hypertriglyceridemia-induced acute pancreatitis (HTG-AP) are more likely to develop persistent organ failure (POF). Therefore, recognizing the individuals at risk of developing POF early in the HTG-AP process is a vital for improving outcomes. Bedside index for severity in acute pancreatitis (BISAP), a simple parameter that is obtained 24 h after admission, is an ideal index to predict HTG-AP severity; however, the suboptimal sensitivity limits its clinical application. Hence, current clinical scoring systems and biochemical parameters are not sufficient for predicting HTG-AP severity.\u0000 AIM\u0000 To elucidate the early predictive value of red cell distribution width (RDW) for POF in HTG-AP.\u0000 METHODS\u0000 In total, 102 patients with HTG-AP were retrospectively enrolled. Demographic and clinical data, including RDW, were collected from all patients on admission.\u0000 RESULTS\u0000 Based on the Revised Atlanta Classification, 37 (33%) of 102 patients with HTG-AP were diagnosed with POF. On admission, RDW was significantly higher in patients with HTG-AP and POF than in those without POF (14.4% vs 12.5%, P < 0.001). The receiver operating characteristic curve demonstrated a good discriminative power of RDW for POF with a cutoff of 13.1%, where the area under the curve (AUC), sensitivity, and specificity were 0.85, 82.4%, and 77.9%, respectively. When the RDW was ≥ 13.1% and one point was added to the original BISAP to obtain a new BISAP score, we achieved a higher AUC, sensitivity, and specificity of 0.89, 91.2%, and 67.6%, respectively.\u0000 CONCLUSION\u0000 RDW is a promising predictor of POF in patients with HTG-AP, and the addition of RDW can promote the sensitivity of BISAP.","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"98 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138954041","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":"Exploring the mechanism of action bitter melon in the treatment of breast cancer by network pharmacology.","authors":"Kavan Panchal, Bhavya Nihalani, Utsavi Oza, Aarti Panchal, Bhumi Shah","doi":"10.5493/wjem.v13.i5.142","DOIUrl":"10.5493/wjem.v13.i5.142","url":null,"abstract":"<p><strong>Background: </strong>Bitter melon has been used to stop the growth of breast cancer (BRCA) cells. However, the underlying mechanism is still unclear.</p><p><strong>Aim: </strong>To predict the therapeutic effect of bitter melon against BRCA using network pharmacology and to explore the underlying pharmacological mechanisms.</p><p><strong>Methods: </strong>The active ingredients of bitter melon and the related protein targets were taken from the Indian Medicinal Plants, Phytochemistry and Therapeutics and SuperPred databases, respectively. The GeneCards database has been searched for BRCA-related targets. Through an intersection of the drug's targets and the disease's objectives, prospective bitter melon anti-BRCA targets were discovered. Gene ontology and kyoto encyclopedia of genes and genomes enrichment analyses were carried out to comprehend the biological roles of the target proteins. The binding relationship between bitter melon's active ingredients and the suggested target proteins was verified using molecular docking techniques.</p><p><strong>Results: </strong>Three key substances, momordicoside K, kaempferol, and quercetin, were identified as being important in mediating the putative anti-BRCA effects of bitter melon through the active ingredient-anti-BRCA target network study. Heat shock protein 90 AA, proto-oncogene tyrosine-protein kinase, and signal transducer and activator of transcription 3 were found to be the top three proteins in the protein-protein interaction network study. The several pathways implicated in the anti-BRCA strategy for an active component include phosphatidylinositol 3-kinase/protein kinase B signaling, transcriptional dysregulation, axon guidance, calcium signaling, focal adhesion, janus kinase-signal transducer and activator of transcription signaling, cyclic adenosine monophosphate signaling, mammalian target of rapamycin signaling, and phospholipase D signaling.</p><p><strong>Conclusion: </strong>Overall, the integration of network pharmacology, molecular docking, and functional enrichment analyses shed light on potential mechanisms underlying bitter melon's ability to fight BRCA, implicating active ingredients and protein targets, as well as highlighting the major signaling pathways that may be altered by this natural product for therapeutic benefit.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"13 5","pages":"142-155"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10758660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurologic orphan diseases: Emerging innovations and role for genetic treatments.","authors":"Ivelina P Kioutchoukova,&nbsp;Devon T Foster,&nbsp;Rajvi N Thakkar,&nbsp;Marco A Foreman,&nbsp;Brandon J Burgess,&nbsp;Rebecca M Toms,&nbsp;Eduardo E Molina Valero,&nbsp;Brandon Lucke-Wold","doi":"10.5493/wjem.v13.i4.59","DOIUrl":"https://doi.org/10.5493/wjem.v13.i4.59","url":null,"abstract":"<p><p>Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing therapeutic agents for patients with these conditions. In our review, we highlight emerging options for patients with neurologic orphan diseases, specifically including diseases resulting in muscular deterioration, epilepsy, seizures, neurodegenerative movement disorders, inhibited cognitive development, neuron deterioration, and tumors. After extensive literature review, gene therapy offers a promising route for the treatment of neurologic orphan diseases. The use of clustered regularly interspaced palindromic repeats/Cas9 has demonstrated positive results in experiments investigating its role in several diseases. Additionally, the use of adeno-associated viral vectors has shown improvement in survival, motor function, and developmental milestones, while also demonstrating reversal of sensory ataxia and cardiomyopathy in Friedreich ataxia patients. Antisense oligonucleotides have also been used in some neurologic orphan diseases with positive outcomes. Mammalian target of rapamycin inhibitors are currently being investigated and have reduced abnormal cell growth, proliferation, and angiogenesis. Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.</p>","PeriodicalId":75340,"journal":{"name":"World journal of experimental medicine","volume":"13 4","pages":"59-74"},"PeriodicalIF":0.0,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/95/44/WJEM-13-59.PMC10520757.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41162095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}