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CNS Neuroscience & Therapeutics Mar 2024Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia....
BACKGROUND
Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype.
METHODS
We screened a Chinese boy with weakness of limbs and his non-consanguineous parents by whole exome sequencing and targeted sequencing.
RESULTS
We report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719-732del, p.Leu240Serfs*17) of the TTC19 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance. We provide his clinical manifestation.
CONCLUSIONS
A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.
Topics: Male; Humans; Electron Transport Complex III; Membrane Proteins; Mutation; Peripheral Nervous System Diseases; Movement Disorders; Pedigree; Mitochondrial Diseases
PubMed: 37927170
DOI: 10.1111/cns.14425 -
Computers in Biology and Medicine Dec 2023The network meta-analysis (NMA) investigated the efficacy of six food supplements, namely glutamine, arginine, lactoferrin, prebiotics, synbiotics, and probiotics, in... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The network meta-analysis (NMA) investigated the efficacy of six food supplements, namely glutamine, arginine, lactoferrin, prebiotics, synbiotics, and probiotics, in preventing necrotizing enterocolitis in premature infants.
METHODS
MEDLINE, Embase, and Cochrane Library were searched. Randomized controlled trials comparing different food supplements for premature infants were included.
RESULTS
Probiotics (OR, 0.47; 95% CrI, 0.33-0.63), arginine (OR, 0.38; 95% CrI, 0.14-0.98), glutamine (OR, 0.30; 95% CrI, 0.079-0.90), and synbiotics (OR, 0.13; 95% CrI, 0.037-0.37). were associated with a decreased incidence of NEC. Only probiotics (OR, 0.81; 95% CrI, 0.69-0.95) and lactoferrin (OR, 0.74; 95% CrI, 0.54-0.92) achieved lower risk of sepsis. Probiotics (OR, 0.58; 95% CrI, 0.40-0.79), prebiotics (OR, 0.23; 95% CrI, 0.043-0.86), and synbiotics (OR, 0.15; 95% CrI, 0.035-0.50) were associated with lower odds of mortality. Probiotics (MD, -2.3; 95% CrI: -3.7- -0.63) appeared to have earlier age of attainment of full feeding.
CONCLUSIONS
Based on this NMA, probiotics and synbiotics had the potential to be the top two preferable food supplements.
Topics: Infant, Newborn; Humans; Enterocolitis, Necrotizing; Network Meta-Analysis; Lactoferrin; Glutamine; Infant, Premature; Probiotics; Infant, Newborn, Diseases; Arginine
PubMed: 37924642
DOI: 10.1016/j.compbiomed.2023.107601 -
Sleep Medicine Dec 2023Augmentation of restless legs syndrome (RLS) is an iatrogenic side effect induced by dopaminergic agents, and it is a major cause of therapeutic failure. Iron deficiency... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Augmentation of restless legs syndrome (RLS) is an iatrogenic side effect induced by dopaminergic agents, and it is a major cause of therapeutic failure. Iron deficiency is a risk factor for RLS, but its effects on the development of RLS augmentation are unclear. This meta-analysis aimed to elucidate the association between serum ferritin and RLS augmentation.
METHODS
We searched the PubMed, Cochrane Library, Embase, ClinicalKey, ScienceDirect, and ProQuest databases for studies comparing the serum ferritin levels of patients with augmented RLS and nonaugmented RLS. A meta-analysis based on a random-effects model was conducted. Levodopa equivalent dose (LED), International Restless Legs Study Group Severity Rating Scale (IRLS), and serum hemoglobin levels were also analyzed.
RESULTS
Six observational studies fulfilled the eligibility criteria of this meta-analysis. A total of 220 RLS patients with augmentation and 687 RLS patients without augmentation were included. The results revealed that augmented RLS was significantly associated with low serum ferritin levels (p = 0.002), high LEDs (p = 0.026), and nonsignificantly associated with high IRLS scores (p = 0.227).
CONCLUSIONS
A low serum ferritin level is associated with RLS augmentation. For patients with RLS who are iron deficient, iron supplements can not only relieve their fundamental RLS symptoms but also lower the risk of RLS augmentation. Moreover, non-dopminergic agents should be considered as the first-line treatment for patients with persistent low serum ferritin levels or those with moderate to severe RLS to prevent augmentation.
Topics: Humans; Restless Legs Syndrome; Dopamine Agents; Levodopa; Iron; Ferritins; Observational Studies as Topic
PubMed: 37879259
DOI: 10.1016/j.sleep.2023.10.022 -
International Forum of Allergy &... Jun 2024Beta-2 transferrin (B2-Tf) gel electrophoresis (GE) is the preferred non-invasive diagnostic modality for confirming cerebrospinal fluid (CSF) in body fluids. While...
BACKGROUND
Beta-2 transferrin (B2-Tf) gel electrophoresis (GE) is the preferred non-invasive diagnostic modality for confirming cerebrospinal fluid (CSF) in body fluids. While B2-Tf GE testing is highly sensitive and specific for CSF, false-positive (FP) and false-negative (FN) results can lead to diagnostic and therapeutic dilemmas. Several series have demonstrated potential causes of false B2-Tf GE results, but few studies have reported reasons for these errors. The purpose of this systematic review was to describe sources of B2-Tf GE errors.
METHODS
A systematic review was performed by searching OVID, EMBASE, and Web of Science databases for B2-Tf GE studies. After applying exclusion criteria, original research studies directly addressing erroneous B2-Tf GE results underwent qualitative analysis.
RESULTS
Of the 243 abstracts screened, 71 underwent full-text review and 18 studies reporting B2-Tf GE errors were included for analysis. There were 15 potential FPs, 12 actual FPs, 12 potential FNs, 19 actual FNs, and 14 indeterminate results. There were also 246 potentially indeterminate results from in vitro studies. Reasons for B2-Tf GE errors included serum transferrin alterations (n = 17; all potential), infection related (n = 13; 9 potential), orbital or salivary contamination (n = 2; 1 potential), and collection related (n = 255; 246 potential). There were 31 false or indeterminate results with unspecified reasons. There were no reported errors due to laboratory processing.
CONCLUSIONS
Multiple potential or actual reasons for false or indeterminate results have been reported for B2-Tf GE testing of rhinorrhea and otorrhea. Future studies should explore reasons for B2-Tf testing errors and how these may affect clinical decision making.
Topics: Humans; Transferrin; Diagnostic Errors; Cerebrospinal Fluid Rhinorrhea; Electrophoresis; Cerebrospinal Fluid Otorrhea
PubMed: 37864574
DOI: 10.1002/alr.23293 -
Clinical Nutrition ESPEN Oct 2023Iron deficiency anemia (IDA) is one of the leading causes of anemia, globally. Oral vitamin C enhances iron absorption and is commonly prescribed with iron for anemia... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Iron deficiency anemia (IDA) is one of the leading causes of anemia, globally. Oral vitamin C enhances iron absorption and is commonly prescribed with iron for anemia patients. Considering the lack of evidence to support this practice, we conducted this systematic review and meta-analysis to determine the treatment efficacy of experimental studies where oral vitamin C or ascorbate was given as co-intervention with iron compared to providing only iron among participants with anemia of all ages.
METHODOLOGY
A comprehensive strategy was used to search literature from PubMed, Cochrane and Google Scholar. Experimental studies conducted among participants with lab-confirmed anemia at baseline, with "oral ascorbic acid or vitamin C given as co-intervention with iron" as intervention and "only oral iron" as the comparator, and reported the outcomes hemoglobin or ferritin, were selected. Random-effects model was used to estimate standardized mean differences or odds ratio of outcomes, and sensitivity analyses were done. Sub-group and meta-regression analyses were conducted to evaluate the reasons for heterogeneity (PROSPERO number: CRD42022306612).
RESULTS
Of the total nine studies included in the review, seven studies with 905 participants were included for meta-analysis. The pooled estimate for standardized mean difference (SMD) of hemoglobin (g/dL) and Serum Ferritin (mcg/L) for intervention-type ferrous ascorbate were 0.44 (95% C.I.: -0.30, 1.26) and 0.03 (95% C.I.: -0.68, 0.73) respectively, and were not statistically significant. The pooled estimate for SMD of hemoglobin (g/dL) and Serum Ferritin (mcg/L) for intervention type 'oral iron and vitamin C' was 0.11 (95% C.I.: -0.05, 0.28) and -0.90 (95% C.I.: -1.09, -0.72) respectively, and were not statistically significant.
CONCLUSION
The SMD of hemoglobin or serum ferritin between the intervention group were not significantly favouring the intervention when the intervention group was ferrous ascorbate or oral iron and vitamin C, and the methodological quality of evidence of these effect measures was very low. This necessitates studying the treatment efficacy of oral vitamin C or ascorbate when given with oral iron for participants with anemia in future clinical trials.
Topics: Humans; Ascorbic Acid; Iron; Vitamins; Anemia; Ferritins; Treatment Outcome
PubMed: 37739692
DOI: 10.1016/j.clnesp.2023.07.081 -
Journal of Trace Elements in Medicine... Dec 2023Iron homeostasis disturbance has been suggested to play a role in the pathology of Alzheimer's disease (AD). Systemic iron levels are regulated by iron-related proteins,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND PURPOSE
Iron homeostasis disturbance has been suggested to play a role in the pathology of Alzheimer's disease (AD). Systemic iron levels are regulated by iron-related proteins, such as ferritin and transferrin. This meta-analysis was established to evaluate iron and iron-related proteins (ferritin, transferrin, lactoferrin, haptoglobin, hepcidin) in cerebrospinal fluid (CSF) and blood samples of AD patients compared with those in healthy controls (HCs).
METHODS
Iron and iron-related proteins in Alzheimer's disease was systematically searched within five databases (PubMed, EMBASE, Web of Science, Cochrane, Scopus) up to October 23, 2022. Fifty-four studies (with data for 5105 participants: 2174 AD patients and 2931 HCs) were included in this meta-analysis. This study was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), applying Stata 14.0 software.
RESULTS
Decreased iron in blood and increased ferritin in CSF were found in AD patients compared with the levels in HCs. AD patients also exhibited lower lactoferrin in serum. Other variables (iron in CSF, ferritin in blood, transferrin in CSF/blood, haptoglobin in CSF/blood, and hepcidin in blood) did not differ between the groups.
CONCLUSION
This meta-analysis indicated that iron and iron-related proteins were associated with the risk of AD, suggesting the value of further exploration of iron imbalance in AD using biofluids.
Topics: Humans; Alzheimer Disease; Iron; Hepcidins; Haptoglobins; Lactoferrin; Ferritins; Transferrin
PubMed: 37734209
DOI: 10.1016/j.jtemb.2023.127304 -
European Journal of Gastroenterology &... Nov 2023Restorative proctocolectomy (RPC) is the most common surgical procedure to restore gastrointestinal continuity after surgical resection of the colon and rectum.... (Meta-Analysis)
Meta-Analysis
Restorative proctocolectomy (RPC) is the most common surgical procedure to restore gastrointestinal continuity after surgical resection of the colon and rectum. Pouchitis is a common complication with several different modalities that can be used to aid diagnosis. This systematic review and meta-analysis aimed at exploring the sensitivity and specificity these diagnostic modalities. The medical literature was searched using MEDLINE, EMBASE and EMBASE classic and PubMed from 1978 to June 2022. We calculated descriptive statistics using sensitivity, specificity, and false-positive rate of the primary studies and also their positive and negative likelihood ratios, and their diagnostic odds ratios. The screen found 5477 records with 13 studies being included. Faecal lactoferrin was found to have the highest pooled sensitivity and specificity of 98% and 88% respectively with imaging modalities coming in second and faecal calprotectin third with pooled sensitivities and specificities of 87% and 79% and 74% and 81% respectively. Faecal biomarkers particularly lactoferrin and imaging modalities may have an important role to play in diagnosing pouchitis. Importantly due to delays in availability of pouchoscopy, our data supports early ordering of these tests to help delineate from other causes. Further studies are required with larger cohort sizes to further validate these tests.
Topics: Humans; Pouchitis; Lactoferrin; Proctocolectomy, Restorative; Sensitivity and Specificity; Feces
PubMed: 37695613
DOI: 10.1097/MEG.0000000000002638 -
The Turkish Journal of Gastroenterology... Sep 2023Previous studies have shown that hyperferritinemia is a common phenomenon in non-alcoholic fatty liver dis- ease patients. We aim to further explore the relationship... (Meta-Analysis)
Meta-Analysis
BACKGROUND/AIMS
Previous studies have shown that hyperferritinemia is a common phenomenon in non-alcoholic fatty liver dis- ease patients. We aim to further explore the relationship between serum ferritin levels and non-alcoholic fatty liver disease using a meta-analysis.
MATERIALS AND METHODS
Four Library databases were electronically searched from inception until December 2021 to find prospective cohort or case-control studies examining the relationship between serum ferritin levels and non-alcoholic fatty liver disease, and all kinds of literature were screened according to the inclusion and exclusion criteria. The odds ratio and other related data were extracted, and a meta-analysis was performed.
RESULTS
Eleven studies examining the relationship between serum ferritin levels and non-alcoholic fatty liver disease were included. The serum ferritin levels in the non-alcoholic fatty liver disease group were significantly higher than those without non-alcoholic fatty liver disease group (1.54 ng/mL, 95% CI: 0.85-2.23, P < .001). Serum ferritin levels were significantly associated with the risk of non-alcoholic fatty liver disease in both men and women (odds ratio = 2.36, 95% CI: 1.41-3.93, P = .001 and odds ratio = 2.93, 95% CI: 1.83-4.69, P < .001, respectively), and after adjusting for the parameters, the relationships were still shown to be significant in men and women (odds ratio = 2.24, 95% CI: 1.64-3.05, P < .001 and odds ratio = 3.30, 95% CI: 2.13-5.11, P < .001, respectively).
CONCLUSION
Serum ferritin levels were higher in patients with non-alcoholic fatty liver disease than in those without non-alcoholic fatty liver disease and were associated with the risk of non-alcoholic fatty liver disease in both men and women.
Topics: Male; Humans; Female; Non-alcoholic Fatty Liver Disease; Prospective Studies; Case-Control Studies; Databases, Factual; Ferritins
PubMed: 37674440
DOI: 10.5152/tjg.2023.22453 -
Biomarkers in Body Fluids as Indicators of Skeletal Maturity: A Systematic Review and Meta-analysis.Rambam Maimonides Medical Journal Aug 2023This review aimed to critically appraise the evidence for biomarkers in blood serum, gingival crevicular fluid (GCF), saliva, and urine in comparison with standard... (Review)
Review
OBJECTIVES
This review aimed to critically appraise the evidence for biomarkers in blood serum, gingival crevicular fluid (GCF), saliva, and urine in comparison with standard radiographic indices for skeletal maturation assessment.
MATERIALS AND METHODS
A thorough literature search in multiple databases was conducted for biomarkers in body fluids for skeletal maturation assessed with cervical vertebrae in lateral cephalograms or on hand-wrist radiographs. Different combinations including free text, MeSH terms, and Boolean operators were used. Two researchers used strict inclusion and exclusion criteria to screen title, abstract, and full text, and used the Quality Assessment of Diagnostic Accuracy Studies (QUADAS)-2 instrument for risk of bias assessment of individual studies. Meta-analysis was performed on eligible studies using RevMan 5 software.
RESULTS
A total of 344 articles were screened, of which 33 met the inclusion criteria and quality assessment. The skeletal maturity indicators included insulin-like growth factors (IGF-1), alkaline phosphatase (ALP), bone-specific alkaline phosphatase (BALP), dehydroepiandrosterone sulfate (DHEAS), vitamin D binding protein (DBP), parathormone-related protein (PTHrP), osteocalcin, metalloproteins, and serotransferrin (TF) along with different metabolites. At puberty, a significant rise was seen in IGF-1, DBP, ALP, osteocalcin, TF, and BALP. However, the serum DHEAS and PTHrP increased from pre-pubertal to post-pubertal stages. Due to the data heterogeneity, a meta-analysis could be performed on seven studies in total on IGF-1 in serum and blood. Of these, five were included for data in males and six in females, and four studies on IGF-1 in serum and blood. A significant difference in IGF-1 levels was seen between stages of peak pubertal growth spurt (CS3 and CS4) and decelerating pubertal growth (CS5) compared with growth initiation stage (CS2).
CONCLUSIONS
Pubertal growth spurts were correlated with peak serum IGF-1 and BALP in both sexes individually. Peak ALP levels in GCF were correlated with the pubertal spurt in a combined sample of males and females. Standard biofluid collection protocols and homogeneity in sampling and methodology are strongly recommended for future research.
PubMed: 37669407
DOI: 10.5041/RMMJ.10506 -
The Cochrane Database of Systematic... Sep 2023Anaemia affects approximately 1.8 billion people worldwide; over 60% of anaemia cases globally are due to iron deficiency (ID). Iron deficiency and anaemia contribute to... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Anaemia affects approximately 1.8 billion people worldwide; over 60% of anaemia cases globally are due to iron deficiency (ID). Iron deficiency and anaemia contribute to the global burden of disease and affect physical and cognitive development in children, and work productivity and economic well-being in adults. Fortification of food with iron, alone or in combination with other nutrients, is an effective intervention to control ID. Condiments and seasonings are ideal food vehicles for iron fortification in countries where they are commonly used.
OBJECTIVES
To determine the effects and safety of condiment and seasoning fortification with iron alone or iron plus other micronutrients on iron deficiency, anaemia, and health-related outcomes in the general population.
SEARCH METHODS
We searched CENTRAL, MEDLINE, Embase, CINAHL, and other databases up to 24 January 2023. We also searched the International clinical trials registry platform (ICTRP) for any ongoing trials.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) (randomisation at individual or cluster level), non-randomised controlled trials, interrupted time series with at least three measure points both before and after intervention, and controlled before-after studies. Participants were populations of any age (including pregnant women), from any country, excluding those with critical illness or severe co-morbidities. We included interventions in which condiments or seasonings have been fortified with any combination of iron and other vitamins and minerals, irrespective of the fortification technology used.
DATA COLLECTION AND ANALYSIS
Two review authors independently screened and assessed the eligibility of studies. Disagreements were resolved through discussion or input from a third review author. Two review authors extracted the data and assessed the risk of bias in all the included studies. We followed the methods laid out by Cochrane and used GRADE criteria for assessing certainty of the evidence.
MAIN RESULTS
Our search identified 15,902 records after removal of duplicates. We included 16 studies with 20,512 participants (18,410 participants after adjusting for clustering effects). They were all carried out in upper-middle- and lower-middle-income countries. Three studies were controlled before-after studies, one was non-randomised trial, and 12 were RCTs (including three cluster RCTs). Six studies took place in schools; seven in communities; and one each in a nursery/kindergarten, tea estate, and factory. Three studies involved only women, one study involved both women and their children, and all other studies focused on children and/or adolescents. Nine studies used salt as a vehicle for iron fortification, three used fish sauce, two used soy sauce, one used curry powder, and one a "seasoning powder". The dose of iron received by participants ranged from 4.4 mg to 55 mg/day. The sample sizes in the trials ranged from 123 to 14,398, and study durations ranged from three months to two years. Twelve RCTs contributed data for meta-analysis. Six trials compared iron-fortified condiments versus the unfortified condiment, and six trials provided data comparing iron fortification in combination with other micronutrients versus the same condiment with other micronutrients, but no added iron. In one trial, the fortificant contained micronutrients that may have affected the absorption of iron. Overall no studies were assessed as having a low risk of bias. All included studies were assessed to have a high overall risk of bias, with the most concerns being around allocation concealment, blinding, and random sequence generation. There was very high heterogeneity amongst studies in almost all examined outcomes. Condiments/seasonings fortified with iron versus unfortified condiments/seasonings We are uncertain about whether consuming condiments/seasonings fortified with iron in comparison to the same unfortified condiment reduces anaemia at the end of intervention (risk ratio (RR) 0.34, 95% confidence interval (CI) 0.18 to 0.65; 2328 participants; 4 studies; very low-certainty of evidence). We are uncertain about whether consuming iron-fortified condiments increases haemoglobin concentrations (mean difference (MD) 6.40 (g/L), 95% CI -0.62 to 13.41; 2808 participants; 5 studies; very low-certainty evidence). Fortification of condiments/seasonings with iron probably slightly reduces ID (RR 0.33, 95% CI 0.11 to 1.01; 391 participants; 2 studies; moderate-certainty evidence). We are uncertain about whether fortification with iron increases ferritin concentration (MD 14.81 (µg/L), 95% CI 5.14 to 24.48; 4459 participants; 6 studies; very low-certainty evidence). Condiments/seasonings fortified with iron plus other micronutrients versus condiments/seasonings fortified with other micronutrients except iron Consuming condiments/seasonings fortified with iron plus other micronutrients may reduce anaemia (RR 0.59, 95% CI 0.40 to 0.89; 1007 participants; 4 studies; low-certainty evidence). We are uncertain about whether fortification of condiments/seasonings with iron plus other micronutrients will improve haemoglobin concentration (MD 6.22 g/dL, 95% CI 1.60 to 10.83; 1270 participants; 5 studies; very low-certainty evidence). It may reduce ID (RR 0.36, 95% CI 0.19 to 0.69; 1154 participants; 4 studies; low-certainty evidence). We are uncertain about whether fortification with iron plus other micronutrients improves ferritin concentration (MD 10.63 µg/L, 95% CI 2.40 to 18.85; 1251 participants; 5 studies; very low -certainty evidence). Condiments/seasonings fortified with iron versus no intervention No trial reported data on this comparison. No studies reported adverse effects. Funding sources do not appear to have distorted the results in any of the assessed trials.
AUTHORS' CONCLUSIONS
We are uncertain whether consuming iron-fortified condiments/seasonings reduces anaemia, improves haemoglobin concentration, or improves ferritin concentration. It may reduce ID. Findings about ferritin should be interpreted with caution since its concentrations increase during inflammation. Consuming condiments/seasonings fortified with iron plus other micronutrients may reduce anaemia, and we are uncertain whether this will improve haemoglobin concentration or ferritin concentration. More studies are needed to determine the true effect of iron-fortified condiments/seasonings on preventing anaemia and improving health. The effects of this intervention on other health outcomes like malaria incidence, growth and development are unclear.
Topics: Female; Pregnancy; Anemia; Condiments; Ferritins; Hemoglobins; Iron; Iron Deficiencies; Powders
PubMed: 37665781
DOI: 10.1002/14651858.CD009604.pub2