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Stem Cell Research Jun 2024GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and...
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and feeding difficulties, early intractable seizures, growth failure, hypotonia, sensorineural hearing impairment. We describe the generation and characterization the human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a 13-year-old girl with GM3 synthase deficiency resulted compound heterozygous for two new variants in the ST3GAL5 gene, c.1166A > G (p.His389Arg) and the c.1024G > A (p.Gly342Ser). The generated hiPSC line shows a normal karyotype, expresses pluripotency markers, and is able to differentiate into the three germ layers.
Topics: Humans; Induced Pluripotent Stem Cells; Female; Sialyltransferases; Adolescent; Cell Line; RNA; Genetic Vectors; Cell Differentiation
PubMed: 38703669
DOI: 10.1016/j.scr.2024.103431 -
Surgical Endoscopy Jun 2024When pregnant patients present with nonobstetric pathology, the physicians caring for them may be uncertain about the optimal management strategy. The aim of this...
BACKGROUND
When pregnant patients present with nonobstetric pathology, the physicians caring for them may be uncertain about the optimal management strategy. The aim of this guideline is to develop evidence-based recommendations for pregnant patients presenting with common surgical pathologies including appendicitis, biliary disease, and inflammatory bowel disease (IBD).
METHODS
The Society of American Gastrointestinal and Endoscopic Surgeons (SAGES) Guidelines Committee convened a working group to address these issues. The group generated five key questions and completed a systematic review and meta-analysis of the literature. An expert panel then met to form evidence-based recommendations according to the Grading of Recommendations Assessment, Development, and Evaluation approach. Expert opinion was utilized when the available evidence was deemed insufficient.
RESULTS
The expert panel agreed on ten recommendations addressing the management of appendicitis, biliary disease, and IBD during pregnancy.
CONCLUSIONS
Conditional recommendations were made in favor of appendectomy over nonoperative treatment of appendicitis, laparoscopic appendectomy over open appendectomy, and laparoscopic cholecystectomy over nonoperative treatment of biliary disease and acute cholecystitis specifically. Based on expert opinion, the panel also suggested either operative or nonoperative treatment of biliary diseases other than acute cholecystitis in the third trimester, endoscopic retrograde cholangiopancreatography rather than common bile duct exploration for symptomatic choledocholithiasis, applying the same criteria for emergent surgical intervention in pregnant and non-pregnant IBD patients, utilizing an open rather than minimally invasive approach for pregnant patients requiring emergent surgical treatment of IBD, and managing pregnant patients with active IBD flares in a multidisciplinary fashion at centers with IBD expertise.
Topics: Humans; Pregnancy; Female; Pregnancy Complications; Laparoscopy; Appendicitis; Inflammatory Bowel Diseases; Appendectomy; Biliary Tract Diseases
PubMed: 38700549
DOI: 10.1007/s00464-024-10810-1 -
Iranian Journal of Public Health Jan 2024Cell aging is associated with changes in telomeres due to DNA damage arising from chronic inflammation in obese patients. The aim of the systematic review and... (Review)
Review
BACKGROUND
Cell aging is associated with changes in telomeres due to DNA damage arising from chronic inflammation in obese patients. The aim of the systematic review and meta-analysis was to find the relationship between obesity and aging or senescence.
METHODS
The systematic review was conducted through PRISMA guideline, beginning with literature search within 2012-2022 in several databases (PubMed, EBSCOHost, Science Direct, Scopus, and Cochrane) followed by screening process using predetermined PICO criteria. Original studies on the topic of obesity and senescence (aging), from preclinical studies to clinical research (cohort or cross-sectional studies) that were published within the last ten years. All studies were appraised using SYRCLE risk of bias tool for preclinical studies and Newcastle-Ottawa Scale (NOS) for cross-sectional and cohort studies. The data extraction on the studies' characteristic and outcome on aging or senescence were followed by quantitative analysis using MetaXL process on prevalence ratio and hazard ratio of obesity to comorbidities and mortality.
RESULTS
Fifteen studies were enrolled. Obesity and white adipose tissue cause increased levels of pro-inflammatory and pro-senescence cytokine and macrophage whilst the aging process lowers metabolism with increased insulin resistance and linked to increased risk of obesity. Obesity occurs in 22% (95% CI 18%-26%) of elderly population with higher prevalence rate in the women population. Obesity is associated with significant increased risk of multimorbidity by 56% (OR = 1.58 [95% CI 1.48-1.96]).
CONCLUSION
The obesity and aging or senescence has reciprocal relationship between each other.
PubMed: 38694856
DOI: 10.18502/ijph.v53i1.14679 -
Microorganisms Apr 2024, a zoonotic vector-born parasite, is endemic in the Mediterranean region, presenting mostly as visceral (VL), but also as cutaneous (CL) and mucosal leishmaniasis (ML)....
Epidemiological and Clinical Aspects of Cutaneous and Mucosal Leishmaniases in Portugal: Retrospective Analysis of Cases Diagnosed in Public Hospitals and Reported in the Literature between 2010 and 2020.
, a zoonotic vector-born parasite, is endemic in the Mediterranean region, presenting mostly as visceral (VL), but also as cutaneous (CL) and mucosal leishmaniasis (ML). This study aimed to describe the epidemiological and clinical aspects of the CL and ML cases diagnosed in mainland Portugal between 2010 and 2020. Collaboration was requested from every hospital of the Portuguese National Health System. Cases were screened through a search of diagnostic discharge codes or positive laboratory results for infection. Simultaneously, a comprehensive literature search was performed. Descriptive statistics and hypothesis testing were performed using IBM SPSS Statistics. A total of 43 CL and 7 ML cases were identified, with a predominance of autochthonous cases (86%). In CL, immunosuppressed individuals constituted a significant proportion of patients (48%), and in this group, disseminated CL (22%) and simultaneous VL (54%) were common. In autochthonous cases, lesions, mostly papules/nodules (62%), were frequently observed on the head (48%). The approach to treatment was very heterogeneous. ML cases were all autochthonous, were diagnosed primarily in older immunosuppressed individuals, and were generally treated with liposomal amphotericin B. The findings suggest a need for enhanced surveillance and reporting, clinical awareness, and diagnostic capacity of these forms of leishmaniasis to mitigate underdiagnosis and improve patient outcomes. A holistic One Health approach is advocated to address the multifaceted challenges posed by leishmaniases in Portugal and beyond.
PubMed: 38674763
DOI: 10.3390/microorganisms12040819 -
International Journal of Environmental... Mar 2024Food deserts are a major public health concern. Inadequate access to healthy food has been associated with poor nutrition and the development of dietary related chronic...
INTRODUCTION
Food deserts are a major public health concern. Inadequate access to healthy food has been associated with poor nutrition and the development of dietary related chronic conditions.
OBJECTIVE
To determine the association between geographic access to nutritious food and preterm birth and whether gestational hypertension mediates this relationship.
METHODS
Food access data was retrieved from the U.S. Department of Agriculture Food Access Research Atlas (2019) and used to quantify the percentage of Census tracts within each county that were food deserts: low-income tracts with limited access to grocery stores, supermarkets, or other sources of healthy, nutritious foods. These data were merged with US birth records from 2018 to 2019 by using the maternal county of residence ( = 7,533,319). We fit crude and adjusted logistic regression models with generalized estimating equations to determine the association between living in a food desert and the odds of preterm birth. We conducted a secondary within-group analysis by stratifying the fully adjusted model by race for non-Hispanic White and non-Hispanic Black birthing people.
RESULTS
In the fully adjusted model, we found a dose-response relationship. As the prevalence of tract-level food deserts within counties increased, so did the likelihood of preterm birth (mid-range: odds ratio (OR) = 1.04, 95% confidence interval (C.I.) 1.01-1.07; high: OR = 1.07, 95% C.I. 1.03-1.11). Similar results were seen in the White-Black stratified models. However, a disparity remained as Black birthing people had the highest odds for preterm birth. Lastly, gestational hypertension appears to mediate the relationship between nutritious food access and preterm birth (natural indirect effect (NIE) = 1.01, 95% CI = 1.00, 1.01).
CONCLUSION
It is salient, particularly for Black birthing people who experience high rates of adverse birth outcomes, that the role of food desert residency be explored within maternal and child health disparities.
Topics: Premature Birth; Humans; United States; Female; Adult; Pregnancy; Food Deserts; Young Adult
PubMed: 38673324
DOI: 10.3390/ijerph21040412 -
Tzu Chi Medical Journal 2024Age-related macular degeneration (AMD) is a chronic and degenerative disease of the retina that leads to irreversible blindness. There is no proven effective treatment...
OBJECTIVES
Age-related macular degeneration (AMD) is a chronic and degenerative disease of the retina that leads to irreversible blindness. There is no proven effective treatment for early AMD and advanced AMD. Mediterranean diet (MD) has been linked to reducing the risk or delaying the progression of AMD. Therefore, in this study, we aim to investigate the potential of MD as a modifiable risk factor for AMD.
MATERIALS AND METHODS
A systematic search was performed in three databases: PubMed, EBSCO host, and Proquest. We search for studies that determine the association of MD in AMD. Then, we pooled the data for meta-analysis.
RESULTS
Eight studies were included in our systematic review. Seven studies were included for meta-analysis. Subjects with medium-high (hazard ratio [HR] 0.82; 95% confidence interval [CI]: 0.75-0.90) adherence to the MD showed a reduced risk of developing AMD. Moreover, medium adherence AMD shows a significant and inverse relationship with the progression to advanced AMD (HR: 0.87; 95% CI: 0.81-0.93). Although it is still inconsistent, the reduction appears stronger for geographic atrophy than for neovascular AMD.
CONCLUSION
Adhering to the MD, particularly at a medium to high level, appears to confer a protective effect against AMD. The sub-analysis demonstrates even that there is a protective effect associated with moderate adherence against advanced AMD. The presence of considerable heterogeneity within the results warrants cautious interpretation. Further research is needed to enhance our understanding.
PubMed: 38645781
DOI: 10.4103/tcmj.tcmj_153_23 -
Nature Communications Apr 2024The eradication of smallpox was officially declared by the WHO in 1980, leading to discontinuation of the vaccination campaign against the virus. Consequently, immunity...
The eradication of smallpox was officially declared by the WHO in 1980, leading to discontinuation of the vaccination campaign against the virus. Consequently, immunity against smallpox and related orthopoxviruses like Monkeypox virus gradually declines, highlighting the need for efficient countermeasures not only for the prevention, but also for the treatment of already exposed individuals. We have recently developed human-like monoclonal antibodies (mAbs) from vaccinia virus-immunized non-human primates. Two mAbs, MV33 and EV42, targeting the two infectious forms of the virus, were selected for in vivo evaluation, based on their in vitro neutralization potency. A single dose of either MV33 or EV42 administered three days post-infection (dpi) to BALB/c female mice provides full protection against lethal ectromelia virus challenge. Importantly, a combination of both mAbs confers full protection even when provided five dpi. Whole-body bioimaging and viral load analysis reveal that combination of the two mAbs allows for faster and more efficient clearance of the virus from target organs compared to either MV33 or EV42 separately. The combined mAbs treatment further confers post-exposure protection against the currently circulating Monkeypox virus in Cast/EiJ female mice, highlighting their therapeutic potential against other orthopoxviruses.
Topics: Humans; Female; Animals; Mice; Smallpox; Antibodies, Monoclonal; Poxviridae Infections; Vaccinia; Vaccinia virus; Orthopoxvirus; Antibodies, Viral
PubMed: 38627363
DOI: 10.1038/s41467-024-47328-y -
ACS Omega Apr 2024Since the emergence of SARS-CoV-2 in 2020, the world has faced a global pandemic, emphasizing the urgent need for effective treatments to combat COVID-19. This study...
Since the emergence of SARS-CoV-2 in 2020, the world has faced a global pandemic, emphasizing the urgent need for effective treatments to combat COVID-19. This study explores the use of green-synthesized carbon-based nanomaterials as potential inhibitors of ACE2, a critical receptor for SARS-CoV-2 entry into host cells. Specifically, the study examines four carbon-based nanomaterials, namely, CD1, CD2, CD3, and CD4 in amino, graphitic, pyridinic, and pyrrolic forms, respectively, synthesized from curcumin, to investigate their binding affinity with ACE2. Molecular docking studies revealed that CD3 (pyridinic form) exhibited the highest binding affinity with ACE2, surpassing that of the control compound, curcumin. Notably, CD3 formed hydrophobic interactions and hydrogen bonds with key ACE2 residues, suggesting its potential to block the binding of SARS-CoV-2 to human cells. Moreover, molecular dynamics simulations demonstrated the stability of these ligand-ACE2 complexes, further supporting the promise of CD3 as an inhibitor. Quantum chemical analyses, including frontier molecular orbitals, natural bond orbital analysis, and the quantum theory of atoms in molecules, unveiled valuable insights into the reactivity and interaction strengths of these ligands. CD3 exhibited desirable chemical properties, signifying its suitability for therapeutic development. The study's findings suggest that green-synthesized carbon-based nanomaterials, particularly CD3, have the potential to serve as effective inhibitors of ACE2, offering a promising avenue for the development of treatments against COVID-19. Further experimental validation is warranted to advance these findings and establish new therapies for the ongoing global pandemic.
PubMed: 38617634
DOI: 10.1021/acsomega.4c00759 -
PloS One 2024Vitamin D plays an essential role in bone and mineral metabolism. There is increased interest in understanding prevalence of Vitamin D deficiency in pregnancy as many...
Vitamin D plays an essential role in bone and mineral metabolism. There is increased interest in understanding prevalence of Vitamin D deficiency in pregnancy as many studies report association of low vitamin D levels with obstetric complications and neonatal sequelae. There is a paucity of studies in Singapore evaluating levels of vitamin D levels during the first trimester of pregnancies. We aim to study the prevalence of vitamin D insufficiency in this population. Our study assessed vitamin D levels in these women. Vitamin D (Plasma 25(OH)D concentration) levels in multiracial women during the first trimester were collected via venepuncture at their booking antenatal visit. They were stratified into sufficient ≥30ng/ml, insufficient ≥20ng/ml and <30ng/ml, moderately deficient ≥10ng/ml and <20ng/ml and severely deficient <10ng/ml. 93 women were included in this study. Only 2.2% of our study population had sufficient vitamin D levels. In women who had insufficient levels, the heavier the weight, the more likely to be vitamin D deficient. Interestingly, we also note that the older the patient, the less likely they are to be deficient. In women with periconceptual multivitamin supplementation, the average vitamin D level for those with supplementation was 2.10ng/ml higher than those without. Majority of patients were recruited from a single study member's patient pool who were mostly Chinese. Prevalence of Vitamin D deficiency in general obstetric patients with higher BMI and darker skinned patients may be even lower in Singapore. The high prevalence of Vitamin D insufficiency in our patients prove that it is a prominent problem in our population. We aim to implement screening of vitamin D levels as part of antenatal investigations in the first trimester and recommend supplementation as required. We also hope to evaluate the association of low vitamin D levels with obstetric or neonatal complications further understanding its implications.
Topics: Infant, Newborn; Humans; Female; Pregnancy; Vitamin D; Prevalence; Singapore; Vitamins; Vitamin D Deficiency
PubMed: 38603703
DOI: 10.1371/journal.pone.0300063 -
Cell Reports Apr 2024Environmental change, coupled with alteration in human lifestyles, is profoundly impacting the microbial communities critical to the health of the Earth and its...
Environmental change, coupled with alteration in human lifestyles, is profoundly impacting the microbial communities critical to the health of the Earth and its inhabitants. To identify bacteria and fungi that are resistant and susceptible to habitat change, we analyze thousands of genera detected in 1,580 host, soil, and aquatic samples. This large-scale analysis identifies 48 bacterial and 4 fungal genera that are abundant across the three biomes, demonstrating fitness in diverse environmental conditions. Samples containing these generalists have significantly higher alpha diversity. These generalists play a significant role in shaping cross-kingdom community structure, boasting larger genomes with more secondary metabolism and antimicrobial resistance genes. Conversely, 30 bacterial and 19 fungal genera are only found in a single habitat, suggesting a limited ability to adapt to different and changing environments. These findings contribute to our understanding of microbial niche breadth and its consequences for global biodiversity loss.
Topics: Soil Microbiology; Fungi; Microbiota; Bacteria; Humans; Biodiversity; Genomics; Phylogeny
PubMed: 38581683
DOI: 10.1016/j.celrep.2024.114046