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European Journal of Medical Genetics Nov 2023The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical,...
The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the striking features of achondroplasia.
Topics: Adolescent; Humans; Child; Adult; Quality of Life; Chronic Pain; Achondroplasia
PubMed: 37758167
DOI: 10.1016/j.ejmg.2023.104850 -
PloS One 2023The high prevalence of oral potentially-malignant disorders exhibits diverse severity and risk of malignant transformation, which mandates a Point-of-Care diagnostic... (Meta-Analysis)
Meta-Analysis
The high prevalence of oral potentially-malignant disorders exhibits diverse severity and risk of malignant transformation, which mandates a Point-of-Care diagnostic tool. Low patient compliance for biopsies underscores the need for minimally-invasive diagnosis. Oral cytology, an apt method, is not clinically applicable due to a lack of definitive diagnostic criteria and subjective interpretation. The primary objective of this study was to identify and evaluate the efficacy of biomarkers for cytology-based delineation of high-risk oral lesions. A comprehensive systematic review and meta-analysis of biomarkers recognized a panel of markers (n: 10) delineating dysplastic oral lesions. In this observational cross sectional study, immunohistochemical validation (n: 131) identified a four-marker panel, CD44, Cyclin D1, SNA-1, and MAA, with the best sensitivity (>75%; AUC>0.75) in delineating benign, hyperplasia, and mild-dysplasia (Low Risk Lesions; LRL) from moderate-severe dysplasia (High Grade Dysplasia: HGD) along with cancer. Independent validation by cytology (n: 133) showed that expression of SNA-1 and CD44 significantly delineate HGD and cancer with high sensitivity (>83%). Multiplex validation in another cohort (n: 138), integrated with a machine learning model incorporating clinical parameters, further improved the sensitivity and specificity (>88%). Additionally, image automation with SNA-1 profiled data set also provided a high sensitivity (sensitivity: 86%). In the present study, cytology with a two-marker panel, detecting aberrant glycosylation and a glycoprotein, provided efficient risk stratification of oral lesions. Our study indicated that use of a two-biomarker panel (CD44/SNA-1) integrated with clinical parameters or SNA-1 with automated image analysis (Sensitivity >85%) or multiplexed two-marker panel analysis (Sensitivity: >90%) provided efficient risk stratification of oral lesions, indicating the significance of biomarker-integrated cytopathology in the development of a Point-of-care assay.
Topics: Humans; Hyperplasia; Automation; Biological Assay; Biopsy; Glycosylation; Hyaluronan Receptors; Observational Studies as Topic
PubMed: 37747904
DOI: 10.1371/journal.pone.0291972 -
Medicine Sep 2023To evaluate through meta-analysis whether long-term use of proton pump inhibitor (PPI) increases the risk of precancerous lesions in the stomach. (Meta-Analysis)
Meta-Analysis
Whether long-term use of proton pump inhibitor increases the risk of precancerous lesions in the stomach: A systematic review and meta-analysis of randomized controlled trials.
BACKGROUND
To evaluate through meta-analysis whether long-term use of proton pump inhibitor (PPI) increases the risk of precancerous lesions in the stomach.
METHODS
Randomized controlled trials that compared the occurrence and progression of precancerous lesions in patients receiving PPI treatment versus non-PPI treatment were retrieved from CNKI, VIP, Wanfang, CBM, Pubmed, Embase, Web of Science, and Cochrane Library databases (from database inception to May 1, 2023). The Revman 5.3 and STATA 17.0 software were used for analysis, and subgroup analysis was conducted based on follow-up time (≤12 months and > 12 months) and lesion type (atrophic gastritis, intestinal metaplasia, and epithelial dysplasia).
RESULTS
Six randomized controlled trials with a total of 1623 cases were included, including 1015 cases in the experimental group and 608 cases in the control group. The meta-analysis results showed that the overall abnormal lesion rate combined with statistical relative risk (RR) = 1.31 (0.85-2.02), P = .23. Subgroup analysis showed that the follow-up time > 12 months combined result was RR = 2.21 (1.47-3.33), P = .0001, the intestinal metaplasia group combined result was RR = 1.96 (0.91-2.47), P = .04.
CONCLUSION SUBSECTIONS
During long-term follow-up, patients using PPI exhibited a significantly higher incidence of overall abnormal lesions compared to the control group, particularly with a higher risk observed for intestinal metaplasia. However, there were no statistically significant differences between the 2 groups in terms of short-term follow-up and other types of lesions. It is important to exercise caution when interpreting these findings due to the limited number of nominated investigations included in the meta-analysis.
Topics: Humans; Proton Pump Inhibitors; Randomized Controlled Trials as Topic; Stomach; Precancerous Conditions; Carcinoma in Situ
PubMed: 37747015
DOI: 10.1097/MD.0000000000035062 -
Endoscopy International Open Sep 2023Upper gastrointestinal (UGI) endoscopy lacks established quality indicators. We conducted an umbrella systematic review of potential quality indicators for the... (Review)
Review
Upper gastrointestinal (UGI) endoscopy lacks established quality indicators. We conducted an umbrella systematic review of potential quality indicators for the detection of UGI cancer and dysplasia. Bibliographic databases were searched up to December 2021 for systematic reviews and primary studies. Studies reporting diagnostic accuracy, detection rates or the association of endoscopy or endoscopist-related factors with UGI cancer or dysplasia detection were included. AMSTAR2 and JBI checklists were used to assess systematic review and primary study quality. Clinical heterogeneity precluded meta-analysis and findings are summarized narratively. Eight systematic reviews and nine primary studies were included. Image enhancement, especially narrow band imaging, had high diagnostic accuracy for dysplasia and early gastric cancer (pooled sensitivity 0.87 (95% CI 0.84-0.89) and specificity 0.97 (0.97-0.98)). Higher detection rates with longer endoscopy examination times were reported in three studies, but no difference was observed in one study. Endoscopist biopsy rate was associated with increased gastric cancer detection (odds ratio 2.5; 95% confidence interval [CI] 2.1-2.9). Early esophageal cancer (0.17% vs 0.14%, =0.04) and gastric cancer (0.16% vs 0.12%, =0.02) detection rates were higher with propofol sedation compared to no sedation. Endoscopies performed by trained endoscopists on dedicated Barrett's surveillance lists had higher detection rates (8% vs 3%, <0.001). The neoplasia detection rate during diagnostic endoscopies for Barrett's esophagus was 7% (95% CI 4%-10%). Image enhancement use, longer examination times, biopsy rate and propofol sedation are potential quality indicators for UGI endoscopy. Neoplasia detection rate and dedicated endoscopy lists are additional potential quality indicators for Barrett's esophagus.
PubMed: 37719799
DOI: 10.1055/a-2117-8621 -
Sensors (Basel, Switzerland) Aug 2023Focal cortical dysplasia (FCD) is a congenital brain malformation that is closely associated with epilepsy. Early and accurate diagnosis is essential for effectively... (Review)
Review
Focal cortical dysplasia (FCD) is a congenital brain malformation that is closely associated with epilepsy. Early and accurate diagnosis is essential for effectively treating and managing FCD. Magnetic resonance imaging (MRI)-one of the most commonly used non-invasive neuroimaging methods for evaluating the structure of the brain-is often implemented along with automatic methods to diagnose FCD. In this review, we define three categories for FCD identification based on MRI: visual, semi-automatic, and fully automatic methods. By conducting a systematic review following the PRISMA statement, we identified 65 relevant papers that have contributed to our understanding of automatic FCD identification techniques. The results of this review present a comprehensive overview of the current state-of-the-art in the field of automatic FCD identification and highlight the progress made and challenges ahead in developing reliable, efficient methods for automatic FCD diagnosis using MRI images. Future developments in this area will most likely lead to the integration of these automatic identification tools into medical image-viewing software, providing neurologists and radiologists with enhanced diagnostic capabilities. Moreover, new MRI sequences and higher-field-strength scanners will offer improved resolution and anatomical detail for precise FCD characterization. This review summarizes the current state of automatic FCD identification, thereby contributing to a deeper understanding and the advancement of FCD diagnosis and management.
Topics: Humans; Focal Cortical Dysplasia; Magnetic Resonance Imaging; Neuroimaging; Brain; Software
PubMed: 37631608
DOI: 10.3390/s23167072 -
Children (Basel, Switzerland) Aug 2023There is an association between very low birth weight (VLBW) and cardiovascular morbidity and mortality in adulthood. Aerobic fitness, measured as the maximal oxygen... (Review)
Review
There is an association between very low birth weight (VLBW) and cardiovascular morbidity and mortality in adulthood. Aerobic fitness, measured as the maximal oxygen consumption (VO max), is a good indicator of cardiopulmonary health and predictor of cardiovascular mortality. Our aim was to determine the effect of birth weight on aerobic exercise capacity and physical activity. We systematically identified studies reporting exercise capacity (VO max and VO peak) and physical activity levels in participants born at VLBW aged eighteen years or older compared to term-born controls from six databases (MEDLINE, OVID, EMBASE, CI NAHL, CENTRAL, and Google Scholar). Meta-analysis of eligible studies was conducted using a random effect model. We screened 6202 articles and identified 15 relevant studies, 10 of which were eligible for meta-analysis. VLBW participants had a lower VO max compared to their term counterparts (-3.35, 95% CI: -5.23 to -1.47, = 0.0005), as did VLBW adults who had developed bronchopulmonary dysplasia (-6.08, 95% CI -11.26 to -0.90, = 0.02). Five of nine studies reported significantly reduced self-reported physical activity levels. Our systematic review and meta-analysis demonstrated reduced maximal aerobic exercise capacity in adults born at VLBW compared to term-born controls.
PubMed: 37628426
DOI: 10.3390/children10081427 -
Journal of Perinatal Medicine Nov 2023Dexamethasone administration can reduce bronchopulmonary dysplasia, our objective was to identify long term adverse effects. (Review)
Review
BACKGROUND
Dexamethasone administration can reduce bronchopulmonary dysplasia, our objective was to identify long term adverse effects.
CONTENT
A systematic review was performed to determine the childhood and adolescent cardiopulmonary and cognitive effects of dexamethasone systemically administered to preterm infants during neonatal intensive care. Relevant studies were identified by searching two electronic health databases and the grey literature. Spirometry assessments were used as respiratory outcomes, blood pressure and echocardiography assessments as cardiovascular outcomes and cognitive and motor function as cognitive outcomes. From 1,479 articles initially identified, 18 studies (overall 1,609 patients) were included (respiratory n=8, cardiovascular n=2, cognitive n=10); all were observational cohort studies. Dexamethasone exposure was associated with worse pulmonary outcomes in children and adolescents (more abnormal FVC and FEV1:FVC z scores). Dexamethasone exposure was associated in one study with lower IQ scores compared to preterm controls (mean 78.2 [SD 15.0] vs. 84.4 [12.6], [p=0.008]) and in two others was associated with lower total and performance IQ when compared to term controls (p<0.001).
SUMMARY AND OUTLOOK
Postnatal dexamethasone exposure has a negative influence on pulmonary and cognitive outcomes in childhood and adolescence. Medications with a better benefit to risk profile need to be identified.
Topics: Adolescent; Child; Humans; Infant; Infant, Newborn; Adrenal Cortex Hormones; Anti-Inflammatory Agents; Bronchopulmonary Dysplasia; Chronic Disease; Dexamethasone; Glucocorticoids; Infant, Premature
PubMed: 37606507
DOI: 10.1515/jpm-2023-0297 -
The Canadian Journal of Cardiology Nov 2023Spontaneous coronary artery dissection (SCAD) is a serious, noniatrogenic and nontraumatic cardiac event that predominantly affects women, with a high risk of... (Review)
Review
BACKGROUND
Spontaneous coronary artery dissection (SCAD) is a serious, noniatrogenic and nontraumatic cardiac event that predominantly affects women, with a high risk of recurrence. Secondary prevention strategies are not well understood in this population. Therefore, the aim of this systematic review is to determine the current evidence on secondary prevention strategies and their effect on recurrent cardiac events and quality of life (QOL).
METHODS
A literature search was conducted on August 21, 2021, of Ovid MEDLINE, Ovid Embase, CINAHL, Cochrane Library (via Wiley), Google Scholar, and ProQuest Dissertations & Theses Global. Literature on adult SCAD survivors who underwent secondary prevention measures with reported outcomes on major adverse cardiovascular events or QOL were included. Articles solely on pregnancy-associated SCAD or fibromuscular dysplasia were excluded.
RESULTS
Thirty studies were included in this review. A variety of research methodologies were explored. There were no randomized controlled trials. Overall, the quality of the evidence was moderate. Although evidence on secondary prevention was limited, tailored medical management was shown to have the most effect on decreasing recurrent events. Cardiac rehabilitation (CR) was supported as a safe and effective program for SCAD patients, with no reported associations with recurrent SCAD events or major adverse cardiovascular events. CR along with psychosocial interventions showed promise in improving QOL in SCAD survivors.
CONCLUSIONS
Medical management has the most effect in reducing recurrent events. CR, as a secondary prevention program, can provide interventions that might improve QOL. Randomized trial evidence on therapies for patients with SCAD are needed.
Topics: Adult; Pregnancy; Humans; Female; Myocardial Infarction; Quality of Life; Coronary Vessels; Secondary Prevention; Vascular Diseases; Coronary Vessel Anomalies; Coronary Angiography
PubMed: 37604409
DOI: 10.1016/j.cjca.2023.08.013 -
Stem Cells Translational Medicine Oct 2023Neonatal cell therapy applications are increasing; however, data on allogeneic cell therapy are limited.
BACKGROUND
Neonatal cell therapy applications are increasing; however, data on allogeneic cell therapy are limited.
OBJECTIVE
To summarize evidence on allogeneic cell therapy in term and preterm neonates.
METHODS
Cochrane Central Register of Controlled Trials, Embase, Ovid Medline, and various registries were searched for studies investigating the safety, feasibility, and efficacy of allogeneic cell therapy in neonates. Two authors independently selected the articles, extracted data, and assessed the risk of bias.
RESULTS
Twelve published (153 infants) and 21 ongoing studies were included. These studies predominantly sourced allogeneic cells from umbilical cord blood (UCB). Mesenchymal stromal cells (MSCs) were the main cell type used (134 of 153 infants); others included UCB-derived total nucleated cells (TNCs) and human amnion epithelial cells (hAECs). Applications included bronchopulmonary dysplasia (BPD; 113 infants), Krabbe disease (13 infants), intraventricular haemorrhage (10 infants), perinatal arterial ischemic stroke (10 infants), hypoxic-ischaemic encephalopathy (6 infants), and necrotizing enterocolitis (1 infant). Nine out of 12 studies did not report any serious adverse events (SAEs) related to cell administration. Three studies reported SAEs, such as graft versus host disease (GVHD) in 5 infants (UCB-derived TNCs for Krabbe disease); and transient cardiorespiratory compromise in 1 infant (hAECs for BPD). Data on efficacy outcomes were limited.
CONCLUSION
The safety and feasibility of allogeneic cell therapy applications in neonates are available, mainly from the use of MSCs. Further safety data for other cell types are required, and the risk of GVHD in different settings needs to be determined. Efficacy studies are largely lacking for all cell types.
PROTOCOL REGISTRATION
The protocol was registered with PROSPERO (registration number CRD42023397876), the international prospective register for systematic reviews (https://www.crd.york.ac.uk/PROSPERO).
PubMed: 37603845
DOI: 10.1093/stcltm/szad048 -
Journal of ISAKOS : Joint Disorders &... Oct 2023To analyze the effect of patellofemoral anatomical variations (patella alta, increased tibial tubercle-trochlear groove [TT-TG] distance, and trochlear dysplasia) on... (Review)
Review
OBJECTIVES
To analyze the effect of patellofemoral anatomical variations (patella alta, increased tibial tubercle-trochlear groove [TT-TG] distance, and trochlear dysplasia) on clinical outcomes after isolated medial patellofemoral ligament (MPFL) reconstruction.
METHODS
A comprehensive search from PubMed, Embase, and the Cochrane Library databases was conducted to identify studies that compared outcomes based on the presence or absence of patella alta, elevated tibial tubercle-trochlear groove (TT-TG) distance, and/or trochlear dysplasia. Exclusion criteria included reviews and meta-analyses, studies that included patients who underwent associated bony procedures, and those reporting outcomes after isolated MPFL reconstruction with no comparison between varying anatomical groups.
RESULTS
After application of selection criteria, 19 studies were included. Patella alta was not predictive of failure or poorer outcomes among 13 studies; however, 2 studies demonstrated poorer patient-reported outcome scores and/or higher failure rates with increasing patellar height. Increasing TT-TG distance demonstrated a statistically significant correlation with poorer outcomes in only one study, whereas 12 other studies showed no association. Trochlear dysplasia resulted in worse outcomes and greater failure rates in 6 studies, while 10 studies showed no statistically significant correlation between trochlear dysplasia and postoperative outcomes.
CONCLUSION
Patella alta and increased TT-TG distance did not adversely affect outcomes following isolated MPFL reconstruction in the preponderance of reviewed studies. Data are mixed regarding the impact of trochlear dysplasia on the outcomes of isolated MPFL reconstruction.
LEVEL OF EVIDENCE
IV.
Topics: Humans; Patellar Dislocation; Patellofemoral Joint; Patella; Joint Instability; Recurrence; Patient Reported Outcome Measures
PubMed: 37562573
DOI: 10.1016/j.jisako.2023.08.001