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European Archives of... Jul 2024To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols...
PURPOSE
To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection.
METHODS
PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16 years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL. Electronic searches were performed through Medline, Embase, Cochrane, and Emcare.
RESULTS
37 studies were included. 21 showed an association between late-onset SNHL and congenital cytomegalovirus (cCMV) infection (age at hearing loss diagnosis 0.75 to 204 months, mean 45.6 ± 43.9), while 16 between late-onset SNHL and other congenital or perinatal factors, namely Neonatal Intensive Care Unit (NICU) stay, prematurity, neonatal respiratory failure, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) support, hypocapnia, hypoxia, alkalosis, seizure activity, congenital diaphragmatic hernia (CDH), inner ear malformation, and gene mutations (age at hearing loss diagnosis 2.5 to 156 months, mean 38.7 ± 40.7).
CONCLUSIONS
cCMV infection may cause late-onset SNHL, which can be missed on standard NHSP. There is, therefore, evidence to support universal screening programmes to enable detection in even asymptomatic neonates. Ongoing audiological follow-up for all children with cCMV is advisable, to enable timely treatment. In the paediatric population presenting conditions such as NICU stay > 5 days, prematurity ≤ 34 weeks gestation, severe neonatal respiratory failure, mechanical ventilation, ECMO support, and CDH surgery, an audiological follow-up from 3 months of age up to at least 3-4 years of age, and at least annually, should be recommended.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Age of Onset; Cytomegalovirus Infections; Disease Progression; Hearing Loss, Sensorineural; Neonatal Screening; Risk Factors
PubMed: 38411671
DOI: 10.1007/s00405-024-08527-x -
Clinical Journal of the American... May 2024Liddle syndrome was initially characterized by hypertension, hypokalemia, metabolic alkalosis, and suppressed plasma renin and aldosterone, resulting from...
BACKGROUND
Liddle syndrome was initially characterized by hypertension, hypokalemia, metabolic alkalosis, and suppressed plasma renin and aldosterone, resulting from gain-of-function variants in the epithelial Na + channel (ENaC). Efficient treatment with ENaC inhibitors is available, but the phenotypic spectrum of genetically confirmed Liddle syndrome is unknown, and some patients may remain undiagnosed and at risk of inefficient treatment. In this study, we used a reverse phenotyping approach to investigate the Liddle syndrome phenotypic spectrum and genotype-phenotype correlations.
METHODS
Pubmed, Embase, Scopus, and the Human Gene Mutation Database were searched for articles reporting Liddle syndrome variants. The genetic variants were systematically classified to identify patients with genetically confirmed Liddle syndrome. We identified 62 articles describing 45 unique variants within 86 Liddle syndrome families, and phenotypic data were pooled for 268 patients with confirmed Liddle syndrome.
RESULTS
The Liddle syndrome variants localized to exon 13 of SCNN1B and SCNN1G , disrupting the PPPxY motif critical for downregulating ENaC activity. Hypertension sensitive to ENaC inhibition was present in 97% of adults carrying Liddle syndrome variants while hypokalemia, metabolic alkalosis, and plasma renin and aldosterone suppression showed incomplete penetrance. In addition, 95% and 55% of patients had a family history of hypertension or cerebrovascular events, respectively. The genotype had minor phenotypic effects; however, probands compared with relatives showed significant phenotypic discrepancies consistent with selection bias for initial genetic screening.
CONCLUSIONS
Patients with genetically confirmed Liddle syndrome displayed a phenotypic spectrum, with ENaC-sensitive hypertension and family history of hypertension being the most common features. The phenotype seemed independent of the specific gene or variant type involved.
Topics: Humans; Liddle Syndrome; Epithelial Sodium Channels; Phenotype; Adult; Genetic Association Studies; Female; Male; Hypertension; Renin; Hypokalemia; Adolescent; Young Adult; Genetic Predisposition to Disease; Child; Mutation
PubMed: 38265765
DOI: 10.2215/CJN.0000000000000430 -
Medicina (Kaunas, Lithuania) Sep 2023: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and... (Review)
Review
: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. : Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. : Overall, 118 patients, 48 case reports, and 9 case series ( = 70) were identified. Out of these, the majority of patients were male ( = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III ( = 59), followed by Type II ( = 19), Type I ( = 14), Type IV ( = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. : Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
Topics: Humans; Male; Female; Bartter Syndrome; Potassium; Hyponatremia; Spironolactone; Europe
PubMed: 37763757
DOI: 10.3390/medicina59091638 -
Life (Basel, Switzerland) May 2023Anticoagulation is recommended to maintain the patency of the circuit in continuous renal replacement therapy (CRRT). However, anticoagulation-associated complications... (Review)
Review
Regional Citrate Anticoagulation in Continuous Renal Replacement Therapy: Is Metabolic Fear the Enemy of Logic? A Systematic Review and Meta-Analysis of Randomised Controlled Trials.
BACKGROUND
Anticoagulation is recommended to maintain the patency of the circuit in continuous renal replacement therapy (CRRT). However, anticoagulation-associated complications can occur. We performed a systematic review and meta-analysis to compare the efficacy and safety of citrate anticoagulation to heparin anticoagulation in critically ill patients treated with CRRT.
METHODS
Randomised controlled trials (RCTs) evaluating the safety and efficacy of citrate anticoagulation and heparin in CRRT were included. Articles not describing the incidence of metabolic and/or electrolyte disturbances induced by the anticoagulation strategy were excluded. The PubMed, Embase, and MEDLINE electronic databases were searched. The last search was performed on 18 February 2022.
RESULTS
Twelve articles comprising 1592 patients met the inclusion criteria. There was no significant difference between the groups in the development of metabolic alkalosis (RR = 1.46; (95% CI (0.52-4.11); = 0.470)) or metabolic acidosis (RR = 1.71, (95% CI (0.99-2.93); = 0.054)). Patients in the citrate group developed hypocalcaemia more frequently (RR = 3.81; 95% CI (1.67-8.66); = 0.001). Bleeding complications in patients randomised to the citrate group were significantly lower than those in the heparin group (RR 0.32 (95% CI (0.22-0.47); < 0.0001)). Citrate showed a significantly longer filter lifespan of 14.52 h (95% CI (7.22-21.83); < 0.0001), compared to heparin. There was no significant difference between the groups for 28-day mortality (RR = 1.08 (95% CI (0.89-1.31); = 0.424) or 90-day mortality (RR 0.9 (95% CI (0.8-1.02); = 0.110).
CONCLUSION
regional citrate anticoagulation is a safe anticoagulant for critically ill patients who require CRRT, as no significant differences were found in metabolic complications between the groups. Additionally, citrate has a lower risk of bleeding and circuit loss than heparin.
PubMed: 37240843
DOI: 10.3390/life13051198 -
Thorax Oct 2023Metabolic alkalosis may lead to respiratory inhibition and increased need for ventilatory support or prolongation of weaning from ventilation for patients with chronic... (Meta-Analysis)
Meta-Analysis
Acetazolamide for metabolic alkalosis complicating respiratory failure with chronic obstructive pulmonary disease or obesity hypoventilation syndrome: a systematic review.
BACKGROUND
Metabolic alkalosis may lead to respiratory inhibition and increased need for ventilatory support or prolongation of weaning from ventilation for patients with chronic respiratory disease. Acetazolamide can reduce alkalaemia and may reduce respiratory depression.
METHODS
We searched Medline, EMBASE and CENTRAL from inception to March 2022 for randomised controlled trials comparing acetazolamide to placebo in patients with chronic obstructive pulmonary disease, obesity hypoventilation syndrome or obstructive sleep apnoea, hospitalised with acute respiratory deterioration complicated by metabolic alkalosis. The primary outcome was mortality and we pooled data using random-effects meta-analysis. Risk of bias was assessed using the Cochrane RoB 2 (Risk of Bias 2) tool, heterogeneity was assessed using the I value and χ test for heterogeneity. Certainty of evidence was assessed using GRADE (Grading of Recommendations, Assessment, Development, and Evaluations) methodology.
RESULTS
Four studies with 504 patients were included. 99% of included patients had chronic obstructive pulmonary disease. No trials recruited patients with obstructive sleep apnoea. 50% of trials recruited patients requiring mechanical ventilation. Risk of bias was overall low to some risk. There was no statistically significant difference with acetazolamide in mortality (relative risk 0.98 (95% CI 0.28 to 3.46); p=0.95; 490 participants; three studies; GRADE low certainty) or duration of ventilatory support (mean difference -0.8 days (95% CI -7.2 to 5.6); p=0.36; 427 participants; two studies; GRADE: low certainty).
CONCLUSION
Acetazolamide may have little impact on respiratory failure with metabolic alkalosis in patients with chronic respiratory diseases. However, clinically significant benefits or harms are unable to be excluded, and larger trials are required.
PROSPERO REGISTRATION NUMBER
CRD42021278757.
Topics: Humans; Acetazolamide; Obesity Hypoventilation Syndrome; Pulmonary Disease, Chronic Obstructive; Alkalosis; Respiratory Insufficiency
PubMed: 37217290
DOI: 10.1136/thorax-2023-219988 -
Clinical and Applied... 2023In patients with liver failure complicated by acute kidney injury, renal replacement therapy (RRT) is often required to improve the internal environment. The use of... (Meta-Analysis)
Meta-Analysis Review
In patients with liver failure complicated by acute kidney injury, renal replacement therapy (RRT) is often required to improve the internal environment. The use of anticoagulants for RRT in patients with liver failure remains controversial. We searched the PubMed, Embase, Cochrane Library, and Web of Science databases for studies. The methodological quality of the included studies was assessed using the Methodological Index for Nonrandomized Studies. A meta-analysis was performed using R software (version 3.5.1) and Review Manager (version 5.3.5). During RRT, 348 patients from 9 studies received regional citrate anticoagulation (RCA), and 127 patients from 5 studies received heparin anticoagulation (including heparin and LMWH). Among patients who received RCA, the incidence of citrate accumulation, metabolic acidosis, and metabolic alkalosis were 5.3% (95% confidence interval [CI]: 0%-25.3%), 26.4% (95% CI: 0-76.9), and 1.8% (95% CI: 0-6.8), respectively. The potassium, phosphorus, total bilirubin (TBIL), and creatinine levels were lower, whereas the serum pH, bicarbonate, base excess levels, and total calcium/ionized calcium ratio were higher after treatment than before treatment. Among patients who received heparin anticoagulation, the TBIL levels were lower, whereas the activated partial thromboplastin clotting time and D-dimer levels were higher after treatment than before treatment. The mortality rates in the RCA and heparin anticoagulation groups were 58.9% (95% CI: 39.2-77.3) and 47.4% (95% CI: 31.1-63.7), respectively. No statistical difference in mortality was observed between the 2 groups. For patients with liver failure, the administration of RCA or heparin for anticoagulation during RRT under strict monitoring may be safe and effective.
Topics: Humans; Heparin; Citric Acid; Heparin, Low-Molecular-Weight; Calcium; Anticoagulants; Citrates; Renal Replacement Therapy; Liver Failure
PubMed: 37186766
DOI: 10.1177/10760296231174001 -
Journal of Environmental Sciences... May 2023Copper (Cu) exists in a variety of forms in different aquatic environments, and affects their bioavailability. In this study we provide a systematic review on toxicity...
Copper (Cu) exists in a variety of forms in different aquatic environments, and affects their bioavailability. In this study we provide a systematic review on toxicity of Cu which focuses on identifying evidence in the mechanisms of Cu toxicity, and apply an adverse outcome pathway (AOP) analysis to identify multiple potential mechanisms and their interactions of Cu toxicity to fish. This analysis process included the mechanisms of behavior toxicant, oxidative toxicant, ion regulation disruption toxicity, as well as endocrine disruption toxicity. It was found that at low levels of Cu exposure, swimming, avoid predators, locating prey and other sensory functions will be impaired, and the organism will suffer from metabolic alkalosis and respiratory acidosis following the inhibition of the carbonic anhydrase active. The main pathway of acute toxicity of Cu to fish is the inhibition of the Na/K-ATPase enzyme, and lead to reduced intracellular sodium absorption, as well as Cu-induced increased cell permeability, in turn resulting in increased sodium ion loss, leading to cardiovascular collapse and respiratory insufficiency. The endocrine disruption toxicity of Cu to fish caused growth inhibition and reproductive reduction. In addition, there are several key pathways of Cu toxicity that are affected by hardness (e.g., Ca) and intracellular DOC concentrations, including inhibiting Cu-induction, improving branchial gas exchange, altering membrane transport functions, decreasing Na loss, and increasing Na uptake. The results of the AOP analysis will provide a robust framework for future directed research on the mechanisms of Cu toxicity.
Topics: Animals; Copper; Adverse Outcome Pathways; Biological Availability; Water Pollutants, Chemical; Sodium; Fishes; Ions
PubMed: 36522080
DOI: 10.1016/j.jes.2022.06.002 -
European Journal of Sport Science Jun 2023This study aimed to investigate the isolated effects of NaHCO on cycling time-trial performance. Furthermore, we investigated whether the ingestion time of NaHCO,... (Meta-Analysis)
Meta-Analysis
This study aimed to investigate the isolated effects of NaHCO on cycling time-trial performance. Furthermore, we investigated whether the ingestion time of NaHCO, standardized or individualized based on time to peak, could be effective in improving cycling time-trial performance. A systematic review was carried out on randomized placebo-controlled studies. A random-effects meta-analysis assessed the standardized mean difference (SMD) between NaHCO and placebo conditions. Eighteen studies were qualitatively (systematic review) and quantitatively (meta-analysis) analysed concerning mean power output (W) ( = 182) and time performance ( = 201). The reviewed studies showed a low risk of bias and homogenous results for W (I = 0%) and performance time (I= 0%). Overall, when compared to placebo, the NaHCO ingestion improved the W (SMD: 0.42; 95% CI: 0.21-0.63; = 0.001) and performance time (SMD: 0.22; 95% CI: 0.02-0.43; = 0.03). Similarly, the NaHCO ingestion using a time-to-peak strategy improved the W (SMD: 0.39; 95% CI: 0.03-0.75; = 0.04; I= 15%) and performance time (SMD: 0.34; 95% CI: 0.07-0.61, = 0.01, I= 0%). The present findings reveal that NaHCO ingestion has the potential to increase the overall performance time and W in cycling time trials.NaHCO is an effective strategy to increase cycling time-trial performance.The standardized protocol did not improve the cycling time-trial performance parameters.The individualized time-to-peak NaHCO ingestion has a positive effect on time and W during cycling time-trial performance.
Topics: Humans; Sodium Bicarbonate; Randomized Controlled Trials as Topic; Bicycling; Eating
PubMed: 35633035
DOI: 10.1080/17461391.2022.2071171 -
Current Nutrition Reports Jun 2022To verify the effects of sodium bicarbonate (NaHCO) supplementation on biochemical and physical measurements of combat sports athletes. (Meta-Analysis)
Meta-Analysis Review
PURPOSE OF REVIEW
To verify the effects of sodium bicarbonate (NaHCO) supplementation on biochemical and physical measurements of combat sports athletes.
RECENT FINDINGS
A systematic review of articles indexed in three databases (PubMed, CAPES journal, and Google Scholar) was carried out until October 2020, using descriptors related to NaHCO supplementation in combat sports. First, 38 articles were identified. Next, eight articles were selected through the inclusion and exclusion criteria. The methodological quality of the articles was assessed using the Physiotherapy Evidence Database (PEDro) scale (8 and 9 points). Blood lactate, rating of perceived exertion, Special Judo Fitness Test, Dummy throw, and mean and peak powers for Wingate were evaluated. Random effects meta-analysis was used, the effect size was adjusted by corrected Hedges' g, and the heterogeneity is explored by I. The results were obtained through weighted average and 95% CI, and the significance limit was set as p < 0.05. NaHCO supplementation had a significant effect on increasing blood lactate (p = 0.006) of the athletes studied. However, the performance measures (rating of perceived exertion, power, and specific performance) did not show a significant difference (p ˂ 0.05). In conclusion, NaHCO supplementation causes a significant increase in blood lactate, indicating an ergogenic effect on buffer, which can delay the onset of fatigue and contribute to the performance of combat sports athletes. New experimental studies need to be published that assess the effect of acute and chronic NaHCO supplementation in specific combat sports tests and in women.
Topics: Athletic Performance; Dietary Supplements; Female; Humans; Lactates; Performance-Enhancing Substances; Sodium Bicarbonate
PubMed: 35394616
DOI: 10.1007/s13668-022-00396-2 -
Antibiotics (Basel, Switzerland) Feb 2021Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively... (Review)
Review
Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively investigated. We conducted a systematic review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations. Databases searched included United States National Library of Medicine, Excerpta Medica, and Web of Science. For the final analysis, we evaluated 46 reports, published after 1960, describing 82 cases. A total of 286 electrolyte and acid-base disorders were reported. Hypomagnesemia, hypokalemia, and hypocalcemia were reported in more than three quarter of cases. Further disorders were, in decreasing order of frequency, metabolic alkalosis, hyponatremia, hypophosphatemia, hypouricemia, hypernatremia, and metabolic acidosis. Six electrolyte and acid-base disorders were reported in seven cases, five in 12 cases, four in 16 cases, three in 31 cases, two in 11 cases, and one in five cases. Laboratory features consistent with a loop of Henle/distal tubular dysfunction were noted in 56 (68%), with a proximal tubular dysfunction in three (3.7%), and with a mixed dysfunction in five (6.1%) cases. The laboratory abnormality was unclassified in the remaining 18 (22%) cases. Treatment with aminoglycosides or colistin may trigger a proximal tubular or, more frequently, a loop of Henle/distal tubular dysfunction.
PubMed: 33535401
DOI: 10.3390/antibiotics10020140