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Genome Research Apr 2024Mitochondrial DNA (mtDNA) variants cause a range of diseases from severe pediatric syndromes to aging-related conditions. The percentage of mtDNA copies carrying a...
Mitochondrial DNA (mtDNA) variants cause a range of diseases from severe pediatric syndromes to aging-related conditions. The percentage of mtDNA copies carrying a pathogenic variant, variant allele frequency (VAF), must reach a threshold before a biochemical defect occurs, termed the biochemical threshold. Whether the often-cited biochemical threshold of >60% VAF is similar across mtDNA variants and cell types is unclear. In our systematic review, we sought to identify the biochemical threshold of mtDNA variants in relation to VAF by human tissue/cell type. We used controlled vocabulary terms to identify articles measuring oxidative phosphorylation (OXPHOS) complex activities in relation to VAF. We identified 76 eligible publications, describing 69, 12, 16, and 49 cases for complexes I, III, IV, and V, respectively. Few studies evaluated OXPHOS activities in diverse tissue types, likely reflective of clinical access. A number of cases with similar VAFs for the same pathogenic variant had varying degrees of residual activity of the affected complex, alluding to the presence of modifying variants. Tissues and cells with VAFs <60% associated with low complex activities were described, suggesting the possibility of a biochemical threshold of <60%. Using Kendall rank correlation tests, the VAF of the m.8993T > G variant correlated with complex V activity in skeletal muscle (τ = -0.58, = 0.01, n = 13); however, no correlation was observed in fibroblasts ( = 0.7, n = 9). Our systematic review highlights the need to investigate the biochemical threshold over a wider range of VAFs in disease-relevant cell types to better define the biochemical threshold for specific mtDNA variants.
Topics: Humans; DNA, Mitochondrial; Gene Frequency; Genetic Variation; Mitochondria; Mitochondrial Diseases; Oxidative Phosphorylation
PubMed: 38627095
DOI: 10.1101/gr.278200.123 -
PloS One 2024Preterm infants have imperfect neurological development, uncoordinated sucking-swallowing-breathing, which makes it difficult to realize effective oral feeding after... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Preterm infants have imperfect neurological development, uncoordinated sucking-swallowing-breathing, which makes it difficult to realize effective oral feeding after birth. How to help preterm infants achieve complete oral feeding as soon as possible has become an important issue in the management of preterm infants. Non-nutritive sucking (NNS), as a useful oral stimulation, can improve the effect of oral feeding in preterm infants. This review aimed to explore the effect of NNS on oral feeding progression through a meta-analysis.
METHODS
We systematically searched PubMed, CINHAL, Web of Science, Embase, Cochrane databases, China's National Knowledge Infrastructure (CNKI), Wanfang and VIP database from inception to January 20, 2024. Search terms included 'non-nutritive sucking' 'oral feeding' and 'premature.' Eligibility criteria involved randomized controlled studies in English or Chinese. Studies were excluded if they were reviews, case reports, or observational studies from which valid data could not be extracted or outcome indicators were poorly defined. The meta-analysis will utilize Review Manager 5.3 software, employing either random-effects or fixed-effects models based on observed heterogeneity. We calculated the mean difference (MD) and 95% confidence interval (CI) for continuous data, and estimated pooled odds ratios (ORs) for dichotomous data. Sensitivity and publication bias analyses were conducted to ensure robust and reliable findings. We evaluated the methodological quality of randomized controlled trials (RCTs) utilizing the assessment tool provided by the Cochrane Collaboration.
RESULTS
A total of 23 randomized controlled trials with 1461 preterm infants were included. The results of the meta-analysis showed that NNS significantly shortened time taken to achieve exclusive oral feeding (MD = -5.37,95%CI = -7.48 to-3.26, p<0.001), length of hospital stay(MD = -4.92, 95% CI = -6.76 to -3.09, p<0.001), time to start oral feeding(MD = -1.41, 95% CI = -2.36 to -0.45, p = 0.004), time to return to birth weight(MD = -1.72, 95% CI = -2.54 to -0.91, p<0.001). Compared to the NNS group, the control group had significant weight gain in preterm infants, including weight of discharge (MD = -61.10, 95% CI = -94.97 to -27.23, p = 0.0004), weight at full oral feeding (MD = -86.21, 95% CI = -134.37 to -38.05, p = 0.0005). In addition, NNS reduced the incidence of feeding intolerance (OR = 0.22, 95% CI = 0.14 to 0.35, p<0.001) in preterm infants.
CONCLUSION
NNS improves oral feeding outcomes in preterm infants and reduces the time to reach full oral feeding and hospitalization length. However, this study was limited by the relatively small sample size of included studies and did not account for potential confounding factors. There was some heterogeneity and bias between studies. More studies are needed in the future to validate the effects on weight gain and growth in preterm infants. Nevertheless, our meta-analysis provides valuable insights, updating existing evidence on NNS for improving oral feeding in preterm infants and promoting evidence-based feeding practices in this population.
Topics: Infant; Female; Infant, Newborn; Humans; Infant Nutritional Physiological Phenomena; Infant, Premature; Birth Weight; Premature Birth; Weight Gain
PubMed: 38626172
DOI: 10.1371/journal.pone.0302267 -
Cancers Mar 2024Eccrine porocarcinoma, sharing many features with other skin tumours, is diagnostically challenging. A conventional biopsy might be misleading and surgical excision... (Review)
Review
Eccrine porocarcinoma, sharing many features with other skin tumours, is diagnostically challenging. A conventional biopsy might be misleading and surgical excision becomes a primary diagnostic tool and a treatment method. However, the data on surgical safety margins are not consistent. We present a systematic review analysing the surgical margins of porocarcinoma in the head and neck area, which was conducted across the PubMed, Cochrane, and Web of Science databases including studies published from inception to November of 2023. In this systematic review, the PRISMA-ScR checklist was used, and a Cohen's Kappa coefficient of 0.92 was applied, indicating very good agreement between reviewers. Out of 529 identified articles, 18 studies yielding 20 cases in total were selected for a thorough analysis. Nine (45%) cases were observed in the facial regions, eight (40%) on the scalp, and three (5%) on the neck. The primary treatment of choice was wide local excision with safety margins ranging from 3 to 22 mm (mean: 10.1). It demonstrated that surgical margins do not differ by age or anatomic regions, with the main point of reference being the tumour size. As observed, the bigger the tumour, the wider the safety margins were. However, the limited disclosure of surgical safety margins in analysed case reports impeded our ability to define the minimum safety margins. Further investigation and a consensus on recommended safety margins are required.
PubMed: 38610942
DOI: 10.3390/cancers16071264 -
Annals of Surgical Oncology Jul 2024Standard lymphadenectomy for pancreatoduodenectomy is defined for pancreatic ductal adenocarcinoma and adopted for patients with non-pancreatic periampullary cancer...
Differences in Lymph Node Metastases Patterns Among Non-pancreatic Periampullary Cancers and Histologic Subtypes: An International Multicenter Retrospective Cohort Study and Systematic Review.
BACKGROUND
Standard lymphadenectomy for pancreatoduodenectomy is defined for pancreatic ductal adenocarcinoma and adopted for patients with non-pancreatic periampullary cancer (NPPC), ampullary adenocarcinoma (AAC), distal cholangiocarcinoma (dCCA), or duodenal adenocarcinoma (DAC). This study aimed to compare the patterns of lymph node metastases among the different NPPCs in a large series and in a systematic review to guide the discussion on surgical lymphadenectomy and pathology assessment.
METHODS
This retrospective cohort study included patients after pancreatoduodenectomy for NPPC with at least one lymph node metastasis (2010-2021) from 24 centers in nine countries. The primary outcome was identification of lymph node stations affected in case of a lymph node metastasis per NPPC. A separate systematic review included studies on lymph node metastases patterns of AAC, dCCA, and DAC.
RESULTS
The study included 2367 patients, of whom 1535 had AAC, 616 had dCCA, and 216 had DAC. More patients with pancreatobiliary type AAC had one or more lymph node metastasis (67.2% vs 44.8%; P < 0.001) compared with intestinal-type, but no differences in metastasis pattern were observed. Stations 13 and 17 were most frequently involved (95%, 94%, and 90%). Whereas dCCA metastasized more frequently to station 12 (13.0% vs 6.4% and 7.0%, P = 0.005), DAC metastasized more frequently to stations 6 (5.0% vs 0% and 2.7%; P < 0.001) and 14 (17.0% vs 8.4% and 11.7%, P = 0.015).
CONCLUSION
This study is the first to comprehensively demonstrate the differences and similarities in lymph node metastases spread among NPPCs, to identify the existing research gaps, and to underscore the importance of standardized lymphadenectomy and pathologic assessment for AAC, dCCA, and DAC.
Topics: Humans; Lymphatic Metastasis; Retrospective Studies; Ampulla of Vater; Pancreaticoduodenectomy; Common Bile Duct Neoplasms; Duodenal Neoplasms; Male; Female; Pancreatic Neoplasms; Adenocarcinoma; Lymph Node Excision; Cholangiocarcinoma; Aged; Middle Aged; Prognosis; Follow-Up Studies; Lymph Nodes; Bile Duct Neoplasms; Carcinoma, Pancreatic Ductal
PubMed: 38602578
DOI: 10.1245/s10434-024-15213-z -
BMJ Global Health Apr 2024Traditionally associated with undernutrition, increasing evidence suggests micronutrient deficiencies can coexist with overnutrition. Therefore, this work aimed to... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Traditionally associated with undernutrition, increasing evidence suggests micronutrient deficiencies can coexist with overnutrition. Therefore, this work aimed to systematically review the associations between iron, zinc and vitamin A (VA) status and weight status (both underweight and overweight) in children and young people.
METHODS
Ovid Medline, Ovid Embase, Scopus and Cochrane databases were systematically searched for observational studies assessing micronutrient status (blood, serum or plasma levels of iron, zinc or VA biomarkers) and weight status (body mass index or other anthropometric measurement) in humans under 25 years of any ethnicity and gender. Risk of bias assessment was conducted using the American Dietetic Association Quality Criteria Checklist. Where possible, random effects restricted maximum likelihood meta-analyses were performed.
RESULTS
After screening, 83 observational studies involving 190 443 participants from 44 countries were identified, with many studies having reported on more than one micronutrient and/or weight status indicator. Iron was the most investigated micronutrient, with 46, 28 and 27 studies reporting data for iron, zinc and VA status, respectively. Synthesising 16 records of OR from seven eligible studies, overnutrition (overweight and obesity) increased odds of iron deficiency (ID) (OR (95% CI): 1.51 (1.20 to 1.82), p<0.0001, I=40.7%). Odds appeared to be higher for children living with obesity (1.88 (1.33 to 2.43), p<0.0001, I=20.6%) in comparison to those with overweight (1.31 (0.98 to 1.64), p<0.0001, I=40.5%), although between group differences were not significant (p=0.08).
CONCLUSIONS
Overnutrition is associated with increased risk of ID, but not zinc or VA deficiencies, with an inverted U-shaped relationship observed between iron status and bodyweight. Our results highlight significant heterogeneity in the reporting of micronutrient biomarkers and how deficiencies were defined. Inflammation status was rarely adequately accounted for, and the burden of ID may well be under-recognised, particularly in children and young people living with overnutrition.
PROSPERO REGISTRATION NUMBER
CRD42020221523.
Topics: Child; Humans; Adolescent; Iron; Vitamin A Deficiency; Zinc; Overweight; Anemia, Iron-Deficiency; Micronutrients; Overnutrition; Vitamin A; Obesity; Risk Factors; Biomarkers
PubMed: 38599666
DOI: 10.1136/bmjgh-2024-015135 -
Neuro-oncology Advances 2024Meningioma clinical trials have assessed interventions including surgery, radiotherapy, and pharmacotherapy. However, agreement does not exist on what, how, and when...
BACKGROUND
Meningioma clinical trials have assessed interventions including surgery, radiotherapy, and pharmacotherapy. However, agreement does not exist on what, how, and when outcomes of interest should be measured. To do so would allow comparative analysis of similar trials. This systematic review aimed to summarize the outcomes measured and reported in meningioma clinical trials.
METHODS
Systematic literature and trial registry searches were performed to identify published and ongoing intracranial meningioma clinical trials (PubMed, Embase, Medline, CINAHL via EBSCO, and Web of Science, completed January 22, 2022). Reported outcomes were extracted verbatim, along with an associated definition and method of measurement if provided. Verbatim outcomes were deduplicated and the resulting unique outcomes were grouped under standardized outcome terms. These were classified using the taxonomy proposed by the "Core Outcome Measures in Effectiveness Trials" (COMET) initiative.
RESULTS
Thirty published articles and 18 ongoing studies were included, describing 47 unique clinical trials: Phase 2 = 33, phase 3 = 14. Common interventions included: Surgery = 13, radiotherapy = 8, and pharmacotherapy = 20. In total, 659 verbatim outcomes were reported, of which 84 were defined. Following de-duplication, 415 unique verbatim outcomes remained and were grouped into 115 standardized outcome terms. These were classified using the COMET taxonomy into 29 outcome domains and 5 core areas.
CONCLUSIONS
Outcome measurement across meningioma clinical trials is heterogeneous. The standardized outcome terms identified will be prioritized through an eDelphi survey and consensus meeting of key stakeholders (including patients), in order to develop a core outcome set for use in future meningioma clinical trials.
PubMed: 38596717
DOI: 10.1093/noajnl/vdae030 -
Neuro-oncology Advances 2024The clinical management of patients with incidental intracranial meningioma varies markedly and is often based on clinician choice and observational data. Heterogeneous...
BACKGROUND
The clinical management of patients with incidental intracranial meningioma varies markedly and is often based on clinician choice and observational data. Heterogeneous outcome measurement has likely hampered knowledge progress by preventing comparative analysis of similar cohorts of patients. This systematic review aimed to summarize the outcomes measured and reported in observational studies.
METHODS
A systematic literature search was performed to identify published full texts describing active monitoring of adult cohorts with incidental and untreated intracranial meningioma (PubMed, EMBASE, MEDLINE, and CINAHL via EBSCO, completed January 24, 2022). Reported outcomes were extracted verbatim, along with an associated definition and method of measurement if provided. Verbatim outcomes were de-duplicated and the resulting unique outcomes were grouped under standardized outcome terms. These were classified using the taxonomy proposed by the "Core Outcome Measures in Effectiveness Trials" (COMET) initiative.
RESULTS
Thirty-three published articles and 1 ongoing study were included describing 32 unique studies: study designs were retrospective = 27 and prospective = 5. In total, 268 verbatim outcomes were reported, of which 77 were defined. Following de-duplication, 178 unique verbatim outcomes remained and were grouped into 53 standardized outcome terms. These were classified using the COMET taxonomy into 9 outcome domains and 3 core areas.
CONCLUSIONS
Outcome measurement across observational studies of incidental and untreated intracranial meningioma is heterogeneous. The standardized outcome terms identified will be prioritized through an eDelphi survey and consensus meeting of key stakeholders (including patients), in order to develop a Core Outcome Set for use in future observational studies.
PubMed: 38596715
DOI: 10.1093/noajnl/vdae042 -
Eating and Weight Disorders : EWD Apr 2024Eating disorder recovery is a poorly defined concept, with large variations among researchers' definitions. Weight maintenance is a key aspect of recovery that remains... (Review)
Review
PURPOSE
Eating disorder recovery is a poorly defined concept, with large variations among researchers' definitions. Weight maintenance is a key aspect of recovery that remains relatively underexplored in the literature. Understanding the role of weight maintenance may help guide the development of treatments. This paper aims to address this by (1) investigating the factors predicting long-term weight maintenance in anorexia nervosa (AN) patients; (2) exploring differences in predictive factors between adolescent and adult populations; and (3) exploring how weight maintenance is conceptualised in the literature.
METHODS
We conducted a systematic review following PRISMA guidelines to address our research questions. Five databases were searched and filtered according to our exclusion criteria.
RESULTS
From the search, 1059 studies were yielded, and 13 studies were included for review. A range of weight, biological and psychological factors were found to predict weight maintenance among these papers. BMI at admission and discharge from inpatient treatment was the most common predictor among the papers. Few studies investigated biological factors and mixed evidence was found for psychological factors. We found no observable differences between adult and adolescent populations. Finally, weight maintenance was defined and measured differently across studies.
CONCLUSION
This review's findings can help contribute to a well-rounded understanding of weight maintenance, and ultimately, of recovery. This can help support clinicians in tailoring interventions to improve long-term outcomes in AN. Future research should aim to replicate studies to better understand the relationship between the factors identified and weight maintenance.
LEVEL I
Systematic review.
Topics: Adult; Adolescent; Humans; Anorexia Nervosa; Body Weight Maintenance; Weight Loss; Feeding and Eating Disorders; Hospitalization
PubMed: 38582784
DOI: 10.1007/s40519-024-01649-5 -
Medicina (Kaunas, Lithuania) Feb 2024: Sudden cardiac death (SCD) represents a challenge to health systems globally and is met with increased frequency in the population. Over time, multiple screening... (Review)
Review
: Sudden cardiac death (SCD) represents a challenge to health systems globally and is met with increased frequency in the population. Over time, multiple screening methods have been proposed, including the analysis of various plasma biomarkers. This article aims to analyze for illustrative purposes the specialized literature in terms of current biomarkers and testing trends, in the case of cardiovascular diseases and implicitly sudden cardiac death. : In this regard, we searched the PubMed database from 2010 to the present time using the keywords "sudden cardiac death" and "biomarkers". The inclusion criteria were clinical trials that analyzed the effectiveness of screening methods in terms of biomarkers used in stratifying the risk of cardiac distress and/or sudden cardiac death. We excluded reviews, meta-analyses, and studies looking at the effectiveness of treatments. : An extended approach was found, through studies that brought to the forefront both classical markers analyzed by new, more performant methods, markers for other pathologies that also determined cardiovascular impact, non-specific molecules with effects on the cardiovascular system, and state-of-the-art markers, such as microRNA. Some molecules were analyzed simultaneously in certain groups of patients. : The observed current trend revealed the tendency to define the clinical-biological particularities of the person to be screened.
Topics: Humans; Death, Sudden, Cardiac; Biomarkers
PubMed: 38541144
DOI: 10.3390/medicina60030418 -
Genes Mar 2024Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature... (Review)
Review
BACKGROUND
Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay.
PROBLEM
The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.
Topics: Pregnancy; Female; Humans; Mosaicism; Prenatal Diagnosis; Trisomy; Chromosomes, Human, Pair 22; Uniparental Disomy; Chromosome Disorders
PubMed: 38540405
DOI: 10.3390/genes15030346