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Kidney & Blood Pressure Research 2002Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be... (Review)
Review
BACKGROUND
Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance.
METHODS
All 26 exons of the human NCCT gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products.
RESULTS
In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion/insertion in the NCCT gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female.
CONCLUSIONS
The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance.
Topics: Adult; Alkalosis; Amino Acid Sequence; Calcium; Carrier Proteins; Female; Gene Deletion; Heterozygote; Humans; Hypokalemia; Magnesium; Middle Aged; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Receptors, Drug; Sodium Chloride Symporters; Solute Carrier Family 12, Member 3; Symporters
PubMed: 12590198
DOI: 10.1159/000068695 -
Journal of Cardiothoracic Surgery Jun 2024Systematic evaluation of the safety of del Nido cardioplegia compared to cold blood cardioplegia in adult cardiac surgery. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Systematic evaluation of the safety of del Nido cardioplegia compared to cold blood cardioplegia in adult cardiac surgery.
METHODS
We systematically searched PubMed, EMbase, The Cochrane Library and ClinicalTrials.gov for randomized clinical trials (published by 14 January 2024) comparing del Nido cardioplegia to cold blood cardioplegia in adult. Our main endpoints were myocardial injury markers and clinical outcomes. We assessed pooled data by use of a random-effects model or a fixed-effects model.
RESULTS
A total of 10 studies were identified, incorporating 889 patients who received del Nido cardioplegia and 907 patients who received cold blood cardioplegia. The meta-analysis results showed that compared with the cold blood cardioplegia, the del Nido cardioplegia had less volume of cardioplegia, higher rate of spontaneous rhythm recovery after cross clamp release, lower levels of postoperative cardiac troponin T and creatinine kinase-myocardial band, all of which were statistically significant. However, there was no statistically significant difference in postoperative troponin I and postoperative left ventricular ejection fraction. The clinical outcomes including mechanical ventilation time, intensive care unit stay time, hospital stay time, postoperative stroke, postoperative new-onset atrial fibrillation, postoperative heart failure requiring intra-aortic balloon pump mechanical circulation support, and in-hospital mortality of both are comparable.
CONCLUSION
Existing evidence suggests that del Nido cardioplegia reduced volume of cardioplegia administration and attempts of defibrillation. The superior postoperative results in CTnT and CK-MB may provide a direction for further research on improvement of the composition of cardioplegia.
Topics: Humans; Heart Arrest, Induced; Randomized Controlled Trials as Topic; Cardiac Surgical Procedures; Cardioplegic Solutions; Adult; Potassium Chloride; Mannitol; Lidocaine; Solutions; Electrolytes; Magnesium Sulfate; Sodium Bicarbonate
PubMed: 38909234
DOI: 10.1186/s13019-024-02846-0 -
Journal of Clinical Laboratory Analysis Dec 2020A common problem in clinical laboratories is maintaining the stability of analytes during pre-analytical processes. The aim of this study was to systematically summarize...
OBJECTIVE
A common problem in clinical laboratories is maintaining the stability of analytes during pre-analytical processes. The aim of this study was to systematically summarize the results of a set of studies about the biochemical analytes stability.
METHODS
A literature search was performed on the Advanced search field of PubMed using the keywords: "(stability) AND (analytes OR laboratory analytes OR laboratory tests OR biochemical analytes OR biochemical tests OR biochemical laboratory tests)." A total of 56 entries were obtained. After applying the selection criteria, 20 articles were included in the study.
RESULTS
In the 20 included references, up to 123 different analytes were assessed. The 34 analytes in order of the most frequently studied analytes were evaluated: Alanine aminotransferase, aspartate aminotransferase, potassium, triglyceride, alkaline phosphatase, creatinine, total cholesterol, albumin, lactate dehydrogenase, sodium, calcium, γ-glutamyltransferase, total bilirubin, urea, creatine kinase, inorganic phosphate, total protein, uric acid, amylase, chloride, high-density lipoprotein, magnesium, glucose, C-reactive protein, bicarbonate, ferritin, iron, lipase, transferrin, cobalamin, cortisol, folate, free thyroxine, and thyroid-stimulating hormone. Stable test results could be varied between 2 hours and 1 week according to the type of samples and/or type of blood collection tubes on a basic classification set as refrigerated or room temperature.
CONCLUSIONS
Biochemical analytes stability could be improved if the best pre-analytical approaches are used.
Topics: Biomarkers; Blood Chemical Analysis; Blood Specimen Collection; Humans; Sample Size; Time Factors
PubMed: 32869910
DOI: 10.1002/jcla.23551