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1.
Ageing Res Rev ; : 102321, 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38723752

RESUMEN

Over the last three decades, neurodegenerative diseases (NDs) have increased in frequency. About 15% of the world's population suffers from NDs in some capacity, which causes cognitive and physical impairment. Neurodegenerative diseases, including Amyotrophic Lateral Sclerosis, Parkinson's disease, Alzheimer's disease, and others represent a significant and growing global health challenge. Neuroinflammation is recognized to be related to all NDs, even though NDs are caused by a complex mix of genetic, environmental, and lifestyle factors. Numerous genes and pathways such as NFκB, p38 MAPK, Akt/mTOR, caspase, nitric oxide, and COX are involved in triggering brain immune cells like astrocytes and microglia to secrete inflammatory cytokines such as tumor necrosis factor-α, interleukin (IL)-1ß, and IL-6. In AD, the binding of Aß with CD36, TLR4, and TLR6 receptors results in activation of microglia which start to produce proinflammatory cytokines and chemokines. Consequently, the pro-inflammatory cytokines worsen and spread neuroinflammation, causing the deterioration of healthy neurons and the impairment of brain functions. Gene therapy has emerged as a promising therapeutic approach to modulate the inflammatory response in NDs, offering potential neuroprotective effects and disease-modifying benefits. This review article focuses on recent advances in gene therapy strategies targeting neuroinflammation pathways in NDs. We discussed the molecular pathways involved in neuroinflammation, highlighted key genes and proteins implicated in these processes, and reviewed the latest preclinical and clinical studies utilizing gene therapy to modulate neuroinflammatory responses. Additionally, this review addressed the prospects and challenges in translating gene therapy approaches into effective treatments for NDs.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38716551

RESUMEN

Cancer remains a significant global health challenge, necessitating innovative approaches to enhance the efficacy and specificity of therapeutic interventions while minimizing adverse effects on healthy tissues. Nanotechnology has emerged as a promising avenue in cancer treatment, offering novel strategies for targeted drug delivery. Nanoparticles, liposomes, and polymer-based systems have played pivotal roles in revolutionizing cancer therapy. Nanotechnology possesses unique physicochemical properties, enabling efficient encapsulation of therapeutic agents and controlled and prolonged release at tumour sites. Advancement in formulations using nanotechnology has made it possible to make multifunctional systems that respond to the microenvironment of a tumour by releasing payloads in response to changes in pH, temperature, or enzymes. Stimuli-responsive polymers can release drugs in response to external cues, enabling site-specific drug release and minimizing systemic exposure. This review explores recent studies and preclinical trials that show how nanoparticles, liposomes, and polymerbased systems could be used to treat cancer, discussing challenges such as scalability, regulatory approval, and potential toxicity concerns along with patents published recently.

3.
J Family Med Prim Care ; 13(3): 990-996, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38736772

RESUMEN

Background: Mobile health applications are an established tool for healthcare management, patient education, and even capacity building for healthcare providers. However, its use among traditional birth attendants (TBAs) is limited. The aim of this study is to explore the needs and bottlenecks of developing an interactive mobile application for maternal and infant care (MAI) of TBAs. Materials and Methods: It is a qualitative study having in-depth interviews (face-to-face approach) conducted among the seekers of MAI services. Setting: This study is conducted in tribal and rural locations in the district Sirohi, Rajasthan. Participants: TBAs and tribal females of reproductive age in tribal-dominated areas have participated. The development of an interactive mobile application MAI has three phases: (1) a need-based approach to identify the needs on the ground; (2) identifying intervention bottlenecks and possible solutions; (3) design and development of the mobile application. Results: Ninety-six tribal females of reproductive age participated in the needs assessment. Eighty percent of them were ≤ 30 years of age and 40% of them were uneducated. Most participants informed that lack of information (culturally/locally appropriate content), peer advocacy, affordability, lack of transportation, and the influence of TBAs are the significant factors for less uptake of maternity and child health services in the tribal and rural areas. Conclusion: The MAI app has culturally/locally appropriate content and is prepared by the local TBAs and Accredited Social Health Activists, with full local character and clothing. MAI app has videos and audio in the local language (Marwari) with pictorial quizzes. Using the MAI app, TBAs may self-educate and guide tribal pregnant women about maternal hygiene and infant healthcare as needed at various stages of pregnancy and childbirth.

4.
Curr Gene Ther ; 2024 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-38738727

RESUMEN

: Neurodegenerative disorders pose significant challenges in the realm of healthcare, as these conditions manifest in complex, multifaceted ways, often attributed to genetic anomalies. With the emergence of CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology, a new frontier has been unveiled in the quest for targeted, precise genetic manipulation. This abstract explores the recent advancements and potential applications of CRISPR-based therapies in addressing genetic components contributing to various neurodegenerative disorders. The review delves into the foundational principles of CRISPR technology, highlighting its unparalleled ability to edit genetic sequences with unprecedented precision. In addition, it talks about the latest progress in using CRISPR to target specific genetic mutations linked to neurodegenerative diseases like Huntington's disease, Alzheimer's disease, amyotrophic lateral sclerosis (ALS), and Parkinson's disease. It talks about the most important studies and trials that show how well and safely CRISPR-based therapies work. This shows how this technology can change genetic variants that cause diseases. Notably, the discussion emphasizes the challenges and ethical considerations associated with the implementation of CRISPR in clinical settings, including off-target effects, delivery methods, and long-term implications. Furthermore, the article explores the prospects and potential hurdles in the widespread application of CRISPR technology for treating neurodegenerative disorders. It touches upon the need for continued research, improved delivery mechanisms, and ethical frameworks to ensure responsible and equitable access to these groundbreaking therapies.

5.
World Neurosurg ; 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38649027

RESUMEN

When non-invasive tests are unable to define the epileptogenic zone in patients, intracranial electroencephalography (iEEG) is a method of localising the epileptogenic zone. Compared to non-invasive evaluations, it offers more precise information about patterns of epileptiform activity, which results in useful diagnostic information that supports surgical decision-making. The primary aim of the present study was to assess the utility of iEEG for definitive surgery for patients suffering from drug-resistant epilepsy (DRE). Online databases like PubMed, Medline, Embase, Scopus, Cochrane Library, Web of Science and IEEE explorer were searched for MeSH terms and free-text keywords. ROBINS I critical appraisal tool was used for quality assessment. Prevalence from different studies was pooled together using the inverse variance heterogeneity method. Eggers regression analysis and funnel plot were used to evaluate publication bias. The systematic review included eighteen studies, while the meta-analysis included ten studies to estimate the prevalence of seizure freedom (class I Engel) in patients undergoing surgery after iEEG. There were 526 patients in all that were included in the meta-analysis. The period of follow-up ranged from one to ten years. The overall pooled estimate of the prevalence of seizure freedom (class I Engel) in patients undergoing surgery after iEEG was 53% (95% CI: 44, 62). The results additionally demonstrated that twelve studies had a moderate risk of bias, whereas six studies had a low risk. Future studies are crucial to enhance our understanding of iEEG, guiding patient choices and unraveling their implications.

6.
BMJ Open Qual ; 13(Suppl 1)2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38589043

RESUMEN

BACKGROUND: Early skin-to-skin contact (SSC) at birth has been shown to improve neonatal outcomes due to enhanced cardiorespiratory stability, thermoregulation and breastfeeding success. LOCAL PROBLEM: The practice of early SSC was virtually non-existent in our delivery room (DR). METHODS AND INTERVENTIONS: The study was conducted in a newly established tertiary care teaching hospital in Western Rajasthan, India. We aimed to improve the median duration of early SSC from 0 min to at least 60 min over 24 weeks in our DR. A quality improvement (QI) team was formed, and all inborn infants ≥35 weeks born vaginally from 9 March 2017 were included. Using the tools of point-of-care QI, we found the lack of standard operating procedure, lack of knowledge among nursing staff regarding early SSC, routine shifting of all infants to radiant warmer, the practice of prioritising birthweight documentation and vitamin K administration as the major hindrances to early SSC. Various change ideas were implemented and tested sequentially through multiple plan-do-study-act (PDSA) cycles to improve the duration of early SSC. Interventions included framing a written policy for SSC, sensitising the nursing staff and resident doctors, actively delaying the alternate priorities, making early SSC a shared responsibility among paediatricians, obstetricians, nursing staff and family members, and continuing SSC in the recovery area of the DR complex. RESULTS: The duration of early SSC increased from 0 to 67 min without any additional resources. The practice of SSC got well established in the system as reflected by a sustained improvement of 63 min and 72 min, respectively, at the end of 2 months and 4 years after study completion. CONCLUSION: Using the QI approach, we established and sustained the practice of early SSC for more than 60 min in our unit by using system analysis and testing change ideas in sequential PDSA cycles.


Asunto(s)
Método Madre-Canguro , Mejoramiento de la Calidad , Recién Nacido , Lactante , Niño , Humanos , Embarazo , Femenino , Método Madre-Canguro/métodos , India , Vitamina K , Factores de Tiempo
7.
Plant Genome ; : e20447, 2024 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-38628142

RESUMEN

Sesame (Sesamum indicum L.) is an ancient oilseed crop belonging to the family Pedaliaceae and a globally cultivated crop for its use as oil and food. In this study, 2496 sesame accessions, being conserved at the National Genebank of ICAR-National Bureau of Plant Genetic Resources (NBPGR), were genotyped using genomics-assisted double-digest restriction-associated DNA sequencing (ddRAD-seq) approach. A total of 64,910 filtered single-nucleotide polymorphisms (SNPs) were utilized to assess the genome-scale diversity. Applications of this genome-scale information (reduced representation using restriction enzymes) are demonstrated through the development of a molecular core collection (CC) representing maximal SNP diversity. This information is also applied in developing a mid-density panel (MDP) comprising 2515 hyper-variable SNPs, representing almost equally the genic and non-genic regions. The sesame CC comprising 384 accessions, a representative set of accessions with maximal diversity, was identified using multiple criteria such as k-mer (subsequence of length "k" in a sequence read) diversity, observed heterozygosity, CoreHunter3, GenoCore, and genetic differentiation. The coreset constituted around 15% of the total accessions studied, and this small subset had captured >60% SNP diversity of the entire population. In the coreset, the admixture analysis shows reduced genetic complexity, increased nucleotide diversity (π), and is geographically distributed without any repetitiveness in the CC germplasm. Within the CC, India-originated accessions exhibit higher diversity (as expected based on the center of diversity concept), than those accessions that were procured from various other countries. The identified CC set and the MDP will be a valuable resource for genomics-assisted accelerated sesame improvement program.

8.
PLoS One ; 19(4): e0300653, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38557860

RESUMEN

Photonic radar, a cornerstone in the innovative applications of microwave photonics, emerges as a pivotal technology for future Intelligent Transportation Systems (ITS). Offering enhanced accuracy and reliability, it stands at the forefront of target detection and recognition across varying weather conditions. Recent advancements have concentrated on augmenting radar performance through high-speed, wide-band signal processing-a direct benefit of modern photonics' attributes such as EMI immunity, minimal transmission loss, and wide bandwidth. Our work introduces a cutting-edge photonic radar system that employs Frequency Modulated Continuous Wave (FMCW) signals, synergized with Mode Division and Wavelength Division Multiplexing (MDM-WDM). This fusion not only enhances target detection and recognition capabilities across diverse weather scenarios, including various intensities of fog and solar scintillations, but also demonstrates substantial resilience against solar noise. Furthermore, we have integrated machine learning techniques, including Decision Tree, Extremely Randomized Trees (ERT), and Random Forest classifiers, to substantially enhance target recognition accuracy. The results are telling: an accuracy of 91.51%, high sensitivity (91.47%), specificity (97.17%), and an F1 Score of 91.46%. These metrics underscore the efficacy of our approach in refining ITS radar systems, illustrating how advancements in microwave photonics can revolutionize traditional methodologies and systems.


Asunto(s)
Radar , Tiempo (Meteorología) , Reproducibilidad de los Resultados , Benchmarking , Aprendizaje Automático
9.
Artículo en Inglés | MEDLINE | ID: mdl-38561605

RESUMEN

Neurodegenerative disorders, which include Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS), represent a significant and growing global health challenge. Current therapies predominantly focus on symptom management rather than altering disease progression. In this review, we discuss the major therapeutic strategies in practice for these disorders, highlighting their limitations. For AD, the mainstay treatments are cholinesterase inhibitors and N-methyl-D-aspartate (NMDA) receptor antagonists. For PD, dopamine replacement therapies, including levodopa, are commonly used. HD is managed primarily with symptomatic treatments, and reusable extends survival in ALS. However, none of these therapies halts or substantially slows the neurodegenerative process. In contrast, this review highlights emerging research into bioactive peptides as potential therapeutic agents. These naturally occurring or synthetically designed molecules can interact with specific cellular targets, potentially modulating disease processes. Preclinical studies suggest that bioactive peptides may mitigate oxidative stress, inflammation, and protein misfolding, which are common pathological features in neurodegenerative diseases. Clinical trials using bioactive peptides for neurodegeneration are limited but show promising initial results. For instance, hemiacetal, a γ-secretase inhibitor peptide, has shown potential in AD by reducing amyloid-beta production, though its development was discontinued due to side effects. Despite these advancements, many challenges remain, including identifying optimal peptides, confirming their mechanisms of action, and overcoming obstacles related to their delivery to the brain. Future research should prioritize the discovery and development of novel bioactive peptides and improve our understanding of their pharmacokinetics and pharmacodynamics. Ultimately, this approach may lead to more effective therapies for neurodegenerative disorders, moving beyond symptom management to potentially modify the course of these devastating diseases.

10.
Indian J Otolaryngol Head Neck Surg ; 76(2): 1825-1835, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38566656

RESUMEN

Auricle is the outward visible part of ear and composed of skin and cartilage. Auricle due to its standout and projected position is more vulnerable to get injured and cause distortion of the facial aesthetics. Reconstruction of the ear defect should be individualized depending on the defect size, location, nearby skin, patient requirement and surgeon experience. To present the results of various reconstructive options for partial ear defect which will aid in decision making among reconstructive options available. Reconstruction was individualized considering the defect size, depth, location, surrounding skin. In upper 1/3 defect reconstructive options include Antia-Buch chondrocutaneous advancement flap, autogenous cartilage with temporoparietal fascial flap, for middle 1/3 defect options include retroauricular soft tissue tube flap, diefenbach procedure, Autogenous cartilage graft and temporoparietal fascial flap, for lower 1/3 defect reconstructive options include pre auricular flap, triangular repair method, Zenteno Alanis technique. Reconstruction with various techniques results in aesthetically good outcomes. There is no major complication seen in any patient. Reconstruction of ear defect with various options available has good outcome. Planning is important part in reconstruction process. Reconstructive option chosen for a ear defect should be individualized depending on patient characteristics, surgeon experience.

11.
Genes (Basel) ; 15(4)2024 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-38674357

RESUMEN

Andrographis paniculata (Burm. f.) Nees is an important medicinal plant known for its bioactive compound andrographolide. NAC transcription factors (NAM, ATAF1/2, and CUC2) play a crucial role in secondary metabolite production, stress responses, and plant development through hormonal signaling. In this study, a putative partial transcript of three NAC family genes (ApNAC83, ApNAC21 22 and ApNAC02) was used to isolate full length genes using RACE. Bioinformatics analyses such as protein structure prediction, cis-acting regulatory elements, and gene ontology analysis were performed. Based on in silico predictions, the diterpenoid profiling of the plant's leaves (five-week-old) and the real-time PCR-based expression analysis of isolated NAC genes under abscisic acid (ABA) treatment were performed. Additionally, the expression analysis of isolated NAC genes under MeJA treatment and transient expression in Nicotiana tabacum was performed. Full-length sequences of three members of the NAC transcription factor family, ApNAC83 (1102 bp), ApNAC21 22 (996 bp), and ApNAC02 (1011 bp), were isolated and subjected to the promoter and gene ontology analysis, which indicated their role in transcriptional regulation, DNA binding, ABA-activated signaling, and stress management. It was observed that ABA treatment leads to a higher accumulation of andrographolide and 14-deoxyandrographolide content, along with the upregulation of ApNAC02 (9.6-fold) and the downregulation of ApNAC83 and ApNAC21 22 in the leaves. With methyl jasmonate treatment, ApNAC21 22 expression decreased, while ApNAC02 increased (1.9-fold), with no significant change being observed in ApNAC83. The transient expression of the isolated NAC genes in a heterologous system (Nicotiana benthamiana) demonstrated their functional transcriptional activity, leading to the upregulation of the NtHMGR gene, which is related to the terpene pathway in tobacco. The expression analysis and heterologous expression of ApNAC21 22 and ApNAC02 indicated their role in andrographolide biosynthesis.


Asunto(s)
Acetatos , Andrographis , Ciclopentanos , Diterpenos , Regulación de la Expresión Génica de las Plantas , Oxilipinas , Proteínas de Plantas , Factores de Transcripción , Diterpenos/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Andrographis/genética , Andrographis/metabolismo , Nicotiana/genética , Nicotiana/metabolismo , Filogenia , Ácido Abscísico/metabolismo , Ácido Abscísico/farmacología , Hojas de la Planta/genética , Hojas de la Planta/metabolismo
12.
J Vector Borne Dis ; 61(1): 81-89, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38648409

RESUMEN

BACKGROUND OBJECTIVES: Malaria due to Plasmodium falciparum (Pf) remains a major public threat in India. Artemisinin-based combination therapy (ACT) has been the country's first-line drug for uncomplicated Pf malaria. In 2013-2014, Artesunate plus sulfadoxine (AS+SP) was replaced by Artemether Lumefantrine (AL) as the first- line antimalarial in North East (NE) states of the country which are endemic for Pf malaria. Regular monitoring of antimalarial drugs is of utmost importance to achieve the goal of elimination. This study aimed to assess the efficacy and safety of ACT for treating uncomplicated Pf malaria in the NE states of India. METHODS: A prospective study of 28-day follow-up was conducted to monitor the efficacy and safety of AL from 2018-2019 in four districts, Udalgiri, Meghalaya, Lawngtlai, and Dhalai of NE, India. The clinical and parasitological response and the polymorphism analysis of the Pfdhps, P/dhfr, and Pfkelch 13 gene were evaluated. RESULTS: A total of 234 patients were enrolled in the study out of 216 patients who completed the follow-up to 28 days. One-hundred percent adequate clinical and parasitological responses (ACPR) were observed with polymerase chain reaction (PCR) correction. The genotype results suggest no recrudescence in the treatment-failure patients. The classical single nucleotide polymorphisms (SNP) in the Pfdhfr gene was S108N (94.9%), followed by C59R (91.5%), whereas, in the Pfdhps gene, the common SNP was A437G (79.6%), followed by S3436A. No associated or validated mutations were found in the propeller region of the PfKelch13 gene. INTERPRETATION CONCLUSION: AL was efficacious and safe in uncomplicated P. falciparum malaria in North East India. In contrast, mutations in the genes responsible for sulfadoxine and pyrimethamine resistance have been fixed in northeast India's population.


Asunto(s)
Antimaláricos , Artemisininas , Quimioterapia Combinada , Malaria Falciparum , Plasmodium falciparum , Malaria Falciparum/tratamiento farmacológico , Malaria Falciparum/parasitología , India , Humanos , Artemisininas/uso terapéutico , Artemisininas/efectos adversos , Antimaláricos/uso terapéutico , Antimaláricos/administración & dosificación , Antimaláricos/efectos adversos , Femenino , Masculino , Plasmodium falciparum/genética , Plasmodium falciparum/efectos de los fármacos , Estudios Prospectivos , Adulto , Adulto Joven , Adolescente , Persona de Mediana Edad , Resultado del Tratamiento , Niño , Preescolar , Combinación Arteméter y Lumefantrina/uso terapéutico , Sulfadoxina/uso terapéutico , Combinación de Medicamentos
13.
Cureus ; 16(3): e55847, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38590493

RESUMEN

The genetics of Down syndrome (DS) and Klinefelter syndrome (KS) are a nondisjunction of autosomal and sex chromosomes, respectively, resulting in aneuploidies. Less than 70 cases of concurrent Down-Klinefelter syndrome (DS-KS) have been reported in the literature. We report the case of a five-month-old Indian child with a rare double aneuploidy resulting in DS-KS. A five-month-old boy born to non-consanguineously married parents presented with failure to thrive and dysmorphic facies. The family history was unremarkable. On examination, he had an upward eye slant, a depressed nasal bridge, a horizontal crease in the left hand, and a sandal gap. A clinical diagnosis of the Down phenotype was considered. Karyotype analysis revealed the presence of double aneuploidy (48, XXY,+21) suggestive of DS-KS. Down-Klinefelter syndrome presents with the DS phenotype at birth, and the characteristic KS phenotype develops in early infancy and apparently manifests during puberty only. Early diagnosis is required for parental counseling and planning for future pregnancies. In children with a typical Down syndrome phenotype, chromosomal analysis is highly recommended. The diagnosis of DS-KS at the earliest has implications for these children's short-term and long-term outcomes. It helps in planning the subsequent pregnancy with appropriate genetic testing and counseling to avoid the risk of another child with trisomy.

14.
Plants (Basel) ; 13(6)2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38592842

RESUMEN

Amaranthus is a genus of C4 dicotyledonous herbaceous plant species that are widely distributed in Asia, Africa, Australia, and Europe and are used as grain, vegetables, forages, and ornamental plants. Amaranth species have gained significant attention nowadays as potential sources of nutritious food and industrial products. In this study, we performed a comparative genome analysis of five amaranth species, namely, Amaranthus hypochondriacus, Amaranthus tuberculatus, Amaranthus hybridus, Amaranthus palmeri, and Amaranthus cruentus. The estimated repeat content ranged from 54.49% to 63.26% and was not correlated with the genome sizes. Out of the predicted repeat classes, the majority of repetitive sequences were Long Terminal Repeat (LTR) elements, which account for about 13.91% to 24.89% of all amaranth genomes. Phylogenetic analysis based on 406 single-copy orthologous genes revealed that A. hypochondriacus is most closely linked to A. hybridus and distantly related to A. cruentus. However, dioecious amaranth species, such as A. tuberculatus and A. palmeri, which belong to the subgenera Amaranthus Acnida, have formed their distinct clade. The comparative analysis of genomic data of amaranth species will be useful to identify and characterize agronomically important genes and their mechanisms of action. This will facilitate genomics-based, evolutionary studies, and breeding strategies to design faster, more precise, and predictable crop improvement programs.

15.
Artículo en Inglés | MEDLINE | ID: mdl-38533877

RESUMEN

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes. In this study, we validated droplet digital polymerase chain reaction (ddPCR) for the determination of CNV for both SMN1 and SMN2 exon 7 for a diagnostic purpose. In total, 66 clinical samples were tested using ddPCR, and results were compared with the MLPA as a reference test. Results: For all samples, CNV for SMN1 and SMN2 exon 7 was consentaneous between ddPCR and MLPA test results (κ = 1.000, p < 0.0001). In addition, ddPCR also showed a significant acceptable degree of test repeatability, coefficient of variation < 4%. Conclusion: ddPCR is expected to be utilitarian for CNV detection for carrier screening and diagnosis of SMA. ddPCR test results for CNV detection for SMN1/SMN2 exon 7 are concordant with the gold standard. ddPCR is a more cost-effective and time-saving diagnostic test for SMA than MLPA. Furthermore, it can be used for population-wide carrier screening for SMA.

16.
Artículo en Inglés | MEDLINE | ID: mdl-38441025

RESUMEN

Hyperlipidemia, characterized by elevated levels of lipids in the blood, represents a major risk factor for cardiovascular diseases, a leading cause of morbidity and mortality worldwide. Conventional pharmacological interventions have been effective in managing hyperlipidemia, but concerns about side effects and long-term use have prompted interest in alternative approaches, particularly the use of nutraceuticals. This comprehensive review aims to summarize and critically evaluate the current body of knowledge surrounding the role of nutraceuticals in the management of hyperlipidemia. We provide an overview of the different classes of nutraceuticals, including plant sterols, omega-3 fatty acids, soluble fiber, antioxidants, and various herbal extracts, which have been investigated for their lipid-lowering properties. The mechanisms of action of these nutraceuticals are discussed, highlighting their ability to modulate lipid metabolism, reduce oxidative stress, and promote cardiovascular health. Furthermore, we review the results of clinical trials and epidemiological studies that have assessed the efficacy of nutraceutical interventions in lowering cholesterol levels, improving lipid profiles, and reducing the risk of cardiovascular events. In addition to their lipid-lowering effects, we examine the safety profile, dosage recommendations, and potential interactions of nutraceuticals with conventional lipid-lowering medications. We also address the importance of patient adherence to dietary and lifestyle modifications in conjunction with nutraceutical supplementation. While nutraceuticals offer a promising avenue for managing hyperlipidemia, we emphasize the need for further research to establish evidence-based guidelines for their use in clinical practice. Challenges related to standardization, quality control, and regulatory considerations are also discussed. In conclusion, this comprehensive review provides valuable insights into the potential of nutraceuticals as adjunctive or alternative therapies for managing hyperlipidemia. While further research is needed, the accumulating evidence suggests that nutraceuticals can play a valuable role in promoting cardiovascular health and reducing the burden of hyperlipidemia- related diseases.

17.
Artículo en Inglés | MEDLINE | ID: mdl-38486388

RESUMEN

Joints and arthritic conditions are among the most dangerous illnesses that humans have ever encountered and it is even more worrying that there is no recognized treatment for arthritis. The researchers looked for safer alternatives, such as herbal medicines, because the traditional treatments used to treat severe joint inflammatory issues have several negative side effects. A ligand-coated nanomedicine can bind to receptors that are overexpressed by cells in chronically inflammatory tissues, increasing its efficacy and reducing its systemic side effects. This is because the pathophysiology of rheumatoid arthritis suggests that macrophages and overexpressed molecules exist within inflamed tissues, which increases permeability and allows nanomedicines to accumulate in inflamed tissue and cause retention phenomena. The anti-arthritic properties of a variety of plants, their components, extracts, and phyto-isolates have been studied to date. These plant compounds can pose stability and delivery problems, which restricts their efficacy as a treatment for inflammatory diseases. The multifunctional and adaptable features of different nanoparticles can help herbal remedies based on nanotechnology get beyond the delivery constraints of different natural ingredients. The application of nanoformulations in tissue engineering is an additional strategy for delivering drugs directly to bone and cartilage in RA patients. The medication is more therapeutically effective due to nanoformulation's improved synovium and cartilage absorption, accumulation, and penetration at inflammatory joints. Herbal medications with a nanotechnology foundation exhibit superior pharmacokinetic and drug delivery qualities, aid in better oral absorption, regulate drug release, boost in vivo retention capacity, target delivery, and have synergistic effects. This review provides an update on the use of herbal medicines based on nanotechnology, which show promise in treating arthritis and other ailments.

18.
Indian J Otolaryngol Head Neck Surg ; 76(1): 1314-1316, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38440542

RESUMEN

A case of chronic suppurative otitis media, active squamosal variety on Examination under microscopy revealed grade 3 attic retraction. CT scan revealed soft tissue thickening and opacification in left middle ear cavity and mastoid. Surgery performed. Excised soft tissue on HPE revealed meningothelial meningioma.

19.
Trop Parasitol ; 14(1): 36-44, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38444794

RESUMEN

Background: Giardia intestinalis is an intestinal protozoan which commonly causes parasitic gastroenteritis globally. It is a species complex consisting of at least eight assemblages (genotypes). In India, Giardia is mostly underreported and missed in asymptomatic cases. Aim: The aim of this study was to genotype the G. intestinalis isolates from stool samples of patients at a tertiary care center in Rajasthan, India, and to clinically correlate it. Methods: This prospective pilot cross-sectional study was conducted from 2019 to 2021 in a tertiary care center in western India. Patients who were microscopically positive for giardiasis were enrolled. DNA was extracted from their stool samples and amplified by polymerase chain reaction (PCR) using 4E1-HP as the target sequence. Anthropometric measurements and analysis were done for children by using Anthrocal application. Results: A total of 50 patients were enrolled. Diarrhea was present in 18 patients (36%). Among these, 6 were immunocompromised and had different comorbidities. Among the children <12 years of age, 55.17% (n = 16/29) were stunted (<-2 S.D.), and among <5 years, 44.4% (n = 4/9) showed wasting (<-2 S.D.). A PCR product corresponding to assemblage B of G. intestinalis was amplified in 47 stool specimens. Only three stool samples were negative for both assemblages A and B and posed an interesting enigma. Conclusion: In this study, a predominance of assemblage B of G. intestinalis was detected in 94% of the isolates. Furthermore, the possibility of zoonotic transmission could not be ruled out.

20.
Indian J Pediatr ; 2024 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-38349456

RESUMEN

OBJECTIVES: To compare asthma control between telemedicine and in-person visit in children aged 7 to 17 y. METHODS: A non-inferiority randomized-controlled trial was conducted at a pediatric chest clinic, involving a total of 192 patients, with 96 children in each group of telemedicine and in-person follow-up. RESULTS: There was a significant improvement in the mean asthma control test (ACT)/ Childhood asthma control test (C-ACT) scores from baseline to three months in both groups, with no significant difference in the change of means between the two groups. The mean difference in ACT/C-ACT score at three months in the telemedicine and in-person visit group was -0.35; 95% CI (-1.30 to +0.10) [p-value 0.09]. There was a significant change in the mean Pediatric Quality of Life index (PQLI) scores from 57.2 ± 10.2 to 66.82 ± 7.99 in the telemedicine group and from 56.1 ± 11.7 to 66.71 ± 4.66 in the in-person visit group, however the mean difference in PQLI score in both the groups was not significant (p = 0.91). There was no significant difference in the number of asthma exacerbations (4 vs. 1) between telemedicine and in-person visit (p = 0.10). The mean telemedicine satisfaction questionnaire score in this study was 3.8 ± 0.7, which indicates that most of the parents were satisfied with the telemedicine follow-up process. CONCLUSIONS: This study revealed that telemedicine is non-inferior to in-person visit for follow-up of children with asthma and can be used as an alternative to in-person visit for the management of asthma, especially in remote settings and pandemic situations.

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