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Frontiers in Endocrinology 2024Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding...
INTRODUCTION
Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis.
METHODS
We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics.
RESULTS
Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg).
CONCLUSIONS
Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.
Topics: Humans; Male; Female; Slovenia; Adolescent; Middle Aged; Lipoprotein Lipase; Child; Pakistan; Hyperlipoproteinemia Type I; Mutation
PubMed: 38911039
DOI: 10.3389/fendo.2024.1387419 -
Cell Transplantation 2024Transplantation of mesenchymal stem cells (MSCs) is one of the hopeful treatments for spinal cord injury (SCI). Most current studies are in animals, and less in humans,... (Meta-Analysis)
Meta-Analysis
Transplantation of mesenchymal stem cells (MSCs) is one of the hopeful treatments for spinal cord injury (SCI). Most current studies are in animals, and less in humans, and the optimal transplantation strategy for MSCs is still controversial. In this article, we explore the optimal transplantation strategy of MSCs through a network meta-analysis of the effects of MSCs on SCI in animal models. PubMed, Web of Science, Cochrane Library, Embase, China National Knowledge Infrastructure (CNKI), Wanfang Database, China Science and Technology Journal Database (VIP), and Chinese Biomedical Literature Service System (SinoMed) databases were searched by computer for randomized controlled studies on MSCs for SCI. Two investigators independently completed the literature screening and data extraction based on the inclusion and exclusion criteria. RevMan 5.4 software was used to assess the quality of the included literature. Stata 16.0 software was used for standard meta-analysis and network meta-analysis. Standardized mean difference (SMD) was used for continuous variables to combine the statistics and calculate 95% confidence interval (95% CI). < 0.05 was considered a statistically significant difference. Cochrane's test and the value were used to indicate the magnitude of heterogeneity. A random-effects model was used if > 50% and < 0.10 indicated significant heterogeneity between studies, and conversely, a fixed-effects model was used. Evidence network diagrams were drawn based on direct comparisons between various interventions. The surface under the cumulative ranking curve area (SUCRA) was used to predict the ranking of the treatment effects of each intervention. A total of 32 animal studies were included in this article for analysis. The results of the standard meta-analysis showed that MSCs improved motor ability after SCI. The network meta-analysis showed that the best treatment effect was achieved for adipose tissue-derived mesenchymal stromal cells (ADMSCs) in terms of cell source and intrathecal (IT) in terms of transplantation modality. For transplantation timing, the best treatment effect was achieved when transplantation was performed in the subacute phase. The available literature suggests that IT transplantation using ADMSCs in the subacute phase may be the best transplantation strategy to improve functional impairment after SCI. Future high-quality studies are still needed to further validate the results of this study to ensure the reliability of the results.
Topics: Animals; Humans; Rats; Disease Models, Animal; Mesenchymal Stem Cell Transplantation; Mesenchymal Stem Cells; Network Meta-Analysis; Spinal Cord Injuries
PubMed: 38910431
DOI: 10.1177/09636897241262992 -
Urolithiasis Jun 2024Urolithiasis is a common disease that affects approximately one-fifth of the global population. This systematic review explores the predictive role of inflammatory... (Meta-Analysis)
Meta-Analysis Review
Urolithiasis is a common disease that affects approximately one-fifth of the global population. This systematic review explores the predictive role of inflammatory markers for the spontaneous passage of ureteral stones. The literature was systematically searched via Google Scholar, PubMed/MEDLINE, the Cochrane Library, Science Direct, CINAHL, Web of Science, and EMBASE databases to identify papers published until 2023. Overall, 26 articles were identified, of which 10 were excluded. The remaining 16 papers reported 2,695 patients (1,723 males and 972 females), with 1,654 (61.37%) experiencing spontaneous stone passage (SSP) and 1,041 (38.63%) not experiencing it (non-SSP). Stones located in the upper part of the ureter were less likely to pass spontaneously (152/959, 15.94% in the SSP group vs. 180/546, 32.48% in the non-SSP group; p < 0.001). Mid-ureteral stones were present in 180/959 (18.75%) of the SSP group compared to 84/546 (14.52%) of the non-SSP group (p = 0.0974). Lower ureteral stones were more likely to pass spontaneously, with 627/959 (63.31%) in the SSP group compared to 282/546 (49.36%) in the non-SSP group (p < 0.001). No significant correlation was found between most inflammatory markers and SSP (p > 0.05). However, procalcitonin levels were lower in the SSP group compared to the non-SSP group (132.7 ± 28.1 vs. 207 ± 145.1, respectively) (p < 0.001). This systematic review has revealed that except procalcitonin, most inflammatory markers do not offer significant predictive capability for ureteral SSP.
Topics: Humans; Ureteral Calculi; Biomarkers; Predictive Value of Tests; Remission, Spontaneous; Inflammation
PubMed: 38907797
DOI: 10.1007/s00240-024-01590-3 -
Ear, Nose, & Throat Journal Jun 2024To evaluate the effectiveness of ofloxacin ear drops versus no intervention in the repair of traumatic tympanic membrane (TM) perforations from randomized controlled... (Review)
Review
To evaluate the effectiveness of ofloxacin ear drops versus no intervention in the repair of traumatic tympanic membrane (TM) perforations from randomized controlled trials (RCTs). Medline/PubMed, CENTRAL, Clinical Trials.Gov, and Google Scholar. Inclusion criteria: (1) English language; (2) RCT studies; (3) reported the outcomes on the application of ofloxacin and outcomes of spontaneous healing. Exclusion criteria: (1) studies without a control group; (2) patient with severe otologic disease such as chronic suppurative otitis media or ossicular disruption or patients with craniocerebral injury; (3) studies with no pretreatment values or single-arm clinical studies. Country, year of publication, number of participants in each arm, patient characteristics such as age, sex, intervention details, laterality, cause of TM perforation, position of perforation, follow-up time, hearing gain, rate of TM closure, and closure time. A total of 6 RCTs studies were analyzed. A total of 502 participants were included; the relative risk for closure rate of ofloxacin treatment was 1.18 [95% confidence interval (CI), 1.08 to 1.28, < .001] and the mean difference (MD) for healing time was -18.4 (95% CI, -19.96 to -16.82, < .001), suggesting ofloxacin has a significant effect on closure of TM perforations. However, no clinically significant effect in hearing (SMD: 0.21, 95% CI, 0.02 to 0.40, = .03) was seen in ofloxacin group. Also, patients in the ofloxacin group were associated with a 13% reduction in the risk of infections compared to their observation-assigned counterparts, but this estimate was not statistically significant. Ofloxacin use in patients with traumatic TM perforation is effective in reducing healing time and increasing rate of TM perforation closure. No evidence of increased risk of hearing loss or infection rates are encountered when ofloxacin is prescribed to patients with traumatic TM perforation.
PubMed: 38907707
DOI: 10.1177/01455613241264479 -
Clinical Biochemistry Jun 2024Bladder cancer (BC) represents a prevalent malignancy in North America and Europe, posing significant health burdens. The identification of a reliable biomarker for... (Review)
Review
Bladder cancer (BC) represents a prevalent malignancy in North America and Europe, posing significant health burdens. The identification of a reliable biomarker for early BC detection is imperative to enhance prognostic outcomes. Our aim for this study is to determine the diagnostic accuracy and potential clinical utility of Angiogenin/Ribonuclease 5 (ANG/RNase 5) as a biomarker for detection of BC. A systematic literature search across multiple databases up to March 20, 2024, was conducted. CMA 3.7 and Meta-disk 1.4 were used to analyze specificity, sensitivity, AUC, DOR, LR+, LR-, Q*index, and SROC for ANG as a urinary biomarker in BC patients. Publication bias was assessed using Egger's regression asymmetry and Begg's rank correlation tests. Additional diagnosing analyses were performed using Python programming language version 3.12.1. In this meta-analysis of seven case-control studies comprising 1,051 participants (576 cases and 481 controls), pooled sensitivity was 0.701 (95 % CI: 0.662-0.738), specificity was 0.787 (95 % CI: 0.752-0.819), LR + was 3.582 (95 % CI: 2.260-5.676), LR- was 0.398 (95 % CI: 0.327-0.485), and DOR was 10.637 (95 % CI: 6.106-18.529). The AUC and Q* index values were 0.823 and 0.756, respectively. Both Begg and Mazumdar Rank Correlation Test (p = 0.229) and Egger's Test of the Intercept (p = 0.135) revealed no significant evidence of publication bias. Our meta-analysis confirms ANG/RNase 5 as a reliable biomarker for early bladder cancer detection, showing strong diagnostic accuracy and no publication bias.
PubMed: 38906363
DOI: 10.1016/j.clinbiochem.2024.110780 -
Sports Medicine (Auckland, N.Z.) Jun 2024Individuals with type 1 diabetes mellitus (T1DM) face impaired cardiorespiratory fitness and glycemic control, increasing the risk of cardiovascular complications....
BACKGROUND
Individuals with type 1 diabetes mellitus (T1DM) face impaired cardiorespiratory fitness and glycemic control, increasing the risk of cardiovascular complications. High-intensity interval training (HIIT) has emerged as a promising exercise modality with potential benefits for both aspects in this population.
OBJECTIVES
The primary aim was to investigate the effects of HIIT on cardiorespiratory fitness and glycemic parameters in patients with T1DM. The secondary aim was to examine the most effective HIIT protocol for cardiorespiratory fitness and glycemic parameters in patients with T1DM.
DESIGN
Systematic review and meta-analysis.
DATA SOURCES
Two major electronic databases (Web of Science and PubMed) were searched up to February 2024.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Randomized and non-randomized trials involving adult patients with T1DM, free of complications and other diseases examining the effects of HIIT (HIIT pre vs. post; HIIT vs. control group or HIIT vs. moderate-intensity continuous training (MICT)) on cardiorespiratory fitness and glycemic parameters were included.
RESULTS
A total of ten studies met the inclusion criteria. The meta-analysis revealed a significant improvement in cardiorespiratory fitness following HIIT interventions (pre vs. post) in patients with T1DM (standardized mean difference (SMD) = 0.59, 95% confidence interval (CI) = 0.16 to 1, p = 0.01). Furthermore, HIIT (pre vs. post) was associated with significant improvements in 24-h mean glucose control (SMD = - 0.44, 95% CI = - 0.81 to - 0.06, p = 0.02), but the results (pre vs. post) failed to identify significant improvements in fasting glucose (SMD = - 0.26, 95% CI = - 0.78 to 0.24, p = 0.3) and glycated hemoglobin (HbA1C) values (SMD = - 0.28, 95% CI = - 0.61 to 0.05, p = 0.1). However, in comparison with a control group, HIIT showed significantly favorable effects on HbA1C (SMD = - 0.74, 95% CI = - 1.35 to - 0.14, p = 0.02). Finally, the meta-regression analysis did not find any moderating effect of any HIIT characteristics (i.e., intervention duration, session duration, work time, rest time, number of bouts, and intensity) on cardiorespiratory fitness and glycemic parameters.
CONCLUSION
Our systematic review and meta-analysis show that T1DM patients who performed a HIIT intervention significantly improved cardiorespiratory fitness and reduced their 24-h mean glucose levels, but not their HbA1C and fasting glucose. These findings support the application of HIIT interventions in T1DM patients. However, the guidelines for the most effective protocol remain unclear; hence, future studies are needed.
PubMed: 38904921
DOI: 10.1007/s40279-024-02059-4 -
Parasitology Research Jun 2024Sterol 14-demethylase (CYP51) inhibitors, encompassing new chemical entities and repurposed drugs, have emerged as promising candidates for Chagas disease treatment,... (Meta-Analysis)
Meta-Analysis Review
Sterol 14-demethylase (CYP51) inhibitors, encompassing new chemical entities and repurposed drugs, have emerged as promising candidates for Chagas disease treatment, based on preclinical studies reporting anti-Trypanosoma cruzi activity. Triazoles like ravuconazole (RAV) and posaconazole (POS) progressed to clinical trials. Unexpectedly, their efficacy was transient in chronic Chagas disease patients, and their activity was not superior to benznidazole (BZ) treatment. This paper aims to summarize evidence on the global activity of CYP51 inhibitors against T. cruzi by applying systematic review strategies, risk of bias assessment, and meta-analysis from in vivo studies. PubMed and Embase databases were searched for original articles, obtaining fifty-six relevant papers meeting inclusion criteria. Characteristics of animal models, parasite strain, treatment schemes, and cure rates were extracted. Primary outcomes such as maximum parasitaemia values, survival, and parasitological cure were recorded for meta-analysis, when possible. The risk of bias was uncertain in most studies. Animals treated with itraconazole, RAV, or POS survived significantly longer than the infected non-treated groups (RR = 4.85 [3.62, 6.49], P < 0.00001), and they showed no differences with animals treated with positive control drugs (RR = 1.01 [0.98, 1.04], P = 0.54). Furthermore, the overall analysis showed that RAV or POS was not likely to achieve parasitological cure when compared with BZ or NFX treatment (OD = 0.49 [0.31, 0.77], P = 0.002). This systematic review contributes to understanding why the azoles had failed in clinical trials and, more importantly, how to improve the animal models of T. cruzi infection by filling the gaps between basic, translational, and clinical research.
Topics: Animals; Humans; 14-alpha Demethylase Inhibitors; Chagas Disease; Disease Models, Animal; Sterol 14-Demethylase; Thiazoles; Treatment Outcome; Triazoles; Trypanocidal Agents; Trypanosoma cruzi
PubMed: 38904688
DOI: 10.1007/s00436-024-08257-3 -
Clinical Kidney Journal Jun 2024Acute kidney injury (AKI) is associated with increased morbidity/mortality. With artificial intelligence (AI), more dynamic models for mortality prediction in AKI...
BACKGROUND
Acute kidney injury (AKI) is associated with increased morbidity/mortality. With artificial intelligence (AI), more dynamic models for mortality prediction in AKI patients have been developed using machine learning (ML) algorithms. The performance of various ML models was reviewed in terms of their ability to predict in-hospital mortality for AKI patients.
METHODS
A literature search was conducted through PubMed, Embase and Web of Science databases. Included studies contained variables regarding the efficacy of the AI model [the AUC, accuracy, sensitivity, specificity, negative predictive value and positive predictive value]. Only original studies that consisted of cross-sectional studies, prospective and retrospective studies were included, while reviews and self-reported outcomes were excluded. There was no restriction on time and geographic location.
RESULTS
Eight studies with 37 032 AKI patients were included, with a mean age of 65.3 years. The in-hospital mortality was 18.0% in the derivation and 15.8% in the validation cohorts. The pooled [95% confidence interval (CI)] AUC was observed to be highest for the broad learning system (BLS) model [0.852 (0.820-0.883)] and elastic net final (ENF) model [0.852 (0.813-0.891)], and lowest for proposed clinical model (PCM) [0.765 (0.716-0.814)]. The pooled (95% CI) AUC of BLS and ENF did not differ significantly from other models except PCM [Delong's test = .022]. PCM exhibited the highest negative predictive value, which supports this model's use as a possible rule-out tool.
CONCLUSION
Our results show that BLS and ENF models are equally effective as other ML models in predicting in-hospital mortality, with variability across all models. Additional studies are needed.
PubMed: 38903953
DOI: 10.1093/ckj/sfae150 -
Forensic Sciences Research Jun 2024Several studies have evaluated the parameters of normality of the sella turcica (ST), which is important to face different craniofacial syndromes that may affect this... (Review)
Review
UNLABELLED
Several studies have evaluated the parameters of normality of the sella turcica (ST), which is important to face different craniofacial syndromes that may affect this structure. Therefore, this research summarized the scientific evidence on the role of ST in the sex estimation of non-syndromic individuals. The research protocol was registered (Prospective International Registry of Systematic Reviews # CRD42021256469), followed by an electronic search in six databases (PubMed, LILACS, Web of Science, Scopus, EMBASE, and LIVIVO) and gray literature (Google Scholar and OpenGrey). Meta-analysis of linear (width, length, height, and diameter) and volumetric measurements, in addition to an assessment of risk of bias (RoB) and certainty of evidence, were performed. After the screening of 986 articles, 13 were evaluated by meta-analysis (1 307 males and 1 231 females). In subgroup analysis, females had lower values for width (lateral radiograph; -0.67 mm; = 0.040), length (computed tomography; -0.23 mm; = 0.020), and diameter (computed tomography; -0.27 mm; < 0.001) compared to males. There was no statistically significant difference regarding height ( = 0.95), area ( = 0.72), and volume ( = 0.21). Most studies exhibited moderate RoB, and the certainty of evidence of the outcomes was very low. In this review, significant differences were observed between the sexes for the length and diameter of the ST; however, the heterogeneity of the studies must be considered.
KEY POINTS
Studies from different geographic regions evaluated the morphology of ST according to sex and showed this anatomical structure as an important indicator of dimorphism.Meta-analysis showed shorter ST length and diameter in women.Subgroup analysis found lower ST width in women based on lateral skull radiographs.Subgroup analysis found smaller lengths and diameters in women based on CT scans.
PubMed: 38903907
DOI: 10.1093/fsr/owad046 -
Therapeutic Advances in Gastroenterology 2024Proton-pump inhibitors (PPIs) and potassium-competitive acid blockers (P-CABs) are recommended for erosive esophagitis (EE), with good safety and tolerance. However, it... (Review)
Review
BACKGROUND
Proton-pump inhibitors (PPIs) and potassium-competitive acid blockers (P-CABs) are recommended for erosive esophagitis (EE), with good safety and tolerance. However, it is unclear which is the best treatment option for EE.
OBJECTIVES
This study aimed to evaluate the comparative efficacy of P-CABs and PPIs for healing EE patients, seeking an appropriate treatment choice in the 4- or 8-week treatment and standard or double dose.
DESIGN
A systematic review and network meta-analysis.
DATA SOURCES AND METHODS
Relevant databases were searched to collect randomized controlled trials of PPIs and P-CABs in the treatment of EE up to 31 May 2023. Studies on standard or double-dose PPIs or P-CABs which were published in English and assessed 4- or 8-week healing effects in EE were included. A network meta-analysis was performed to evaluate the efficacy of the treatments under the frequentist framework. Sensitivity and subgroup analyses of patients with different baseline EE were also conducted.
RESULTS
In all, 34 studies involving 25,054 patients and 9 PPIs, 6 P-CABs, or placebo treatment interventions were included. The pooled 4-week healing rate was significantly statistically lower than the pooled 8-week healing rate for most treatments. Besides, the higher healing rate of double-dose treatment than standard-dose treatment was not observed in the initial treatment of most drugs. The main analysis only included studies conducted for both patients with and without severe EE at baseline, and the proportion of severe EE included in the study was >10%, Keverprazan 20 mg qd ranked best with a surface under the cumulative ranking curve (SUCRA) value of 84.7, followed by Ilaprazole 10 mg qd with a SUCRA value of 82.0, for the healing rate at 8 weeks. Sensitivity analysis showed that the results were robust. Subgroup analysis showed that most P-CABs had higher healing rates than PPIs, particularly for patients with severe EE. And the healing rate of Keverprazan 20 mg qd at 8 weeks ranked best in the subgroup without or with severe EE at baseline.
CONCLUSION
This study showed that an 8-week treatment seemed more effective than the 4-week treatment for healing EE patients. The healing effect of Keverprazan (20 mg qd) ranked best in 8-week treatment, for both severe and non-severe EE patients.
TRIAL REGISTRATION
The study protocol was registered with INPLASY (registration number INPLASY2023120053).
PubMed: 38903448
DOI: 10.1177/17562848241251567