-
Frontiers in Pediatrics 2021Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the...
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene , coding for the protein wolframin, cause Wolfram Syndrome and are associated with bipolar disorder and schizophrenia. This report aims to connect mutations to their impact on protein expression and structure, which ultimately translates to altered cell function and behavioral alterations of an individual. Published data were used to compile mutations associated with psychiatric symptoms, both in homozygous patients and heterozygous carriers of mutations. These mutations were evaluated using SNAP2, PolyPhen-2, and PROVEAN to predict the effects of sequence variants. Statistical analysis was performed to assess the correlation between the locations of the mutations and the damage prediction scores. Several mutations, clustering in the center and C-terminus of the polypeptide, such as A559T and R558C, are found in individuals with psychiatric diseases and appear particularly impactful on protein structure. Our analysis showed that mutations in all regions of wolframin were present in patients with schizophrenia whereas only cytoplasmic and ER luminal mutations were reported in patients with manic episodes and bipolar disorders. According to Poly-Phen-2 predictions, 82.4% of the ER lumen mutations and 85.7% of the membrane mutations are damaging. We propose mood disorders in Wolfram Syndrome and heterozygous carriers of mutations are the consequence of specific mutations in that alter the structure of wolframin, resulting in intracellular calcium dysregulations and impaired cell signaling, Understanding the effect of mutations on bipolar disorder and schizoprenia is integral to designing clinically targeted treatments for both diseases, which need more specialized treatments.
PubMed: 34746052
DOI: 10.3389/fped.2021.718132 -
Perioperative Medicine (London, England) 2018Dehydration is highly prevalent and is associated with adverse cardiovascular and renal events. Clinical assessment of dehydration lacks sensitivity. Perhaps a patient's... (Review)
Review
BACKGROUND
Dehydration is highly prevalent and is associated with adverse cardiovascular and renal events. Clinical assessment of dehydration lacks sensitivity. Perhaps a patient's thirst can provide an accurate guide to fluid therapy. This systematic review examines the sensitivity of thirst in responding to changes in plasma osmolality in participants of any age with no condition directly effecting their sense of thirst.
METHODS
Medline and EMBASE were searched up to June 2017. Inclusion criteria were all studies reporting the plasma osmolality threshold for the sensation of thirst.
RESULTS
A total of 12 trials were included that assessed thirst intensity on a visual analogue scale, as a function of plasma osmolality (pOsm), and employed linear regression to define the thirst threshold. This included 167 participants, both healthy controls and those with a range of pathologies, with a mean age of 41 (20-78) years.The value ±95% CI for the pOsm threshold for thirst sensation was found to be 285.23 ± 1.29 mOsm/kg. Above this threshold, thirst intensity as a function of pOsm had a mean ± SEM slope of 0.54 ± 0.07 cm/mOsm/kg. The mean ± 95% CI vasopressin release threshold was very similar to that of thirst, being 284.3 ± 0.71 mOsm/kg.Heterogeneity across studies can be accounted for by subtle variation in experimental protocol and data handling.
CONCLUSION
The thresholds for thirst activation and vasopressin release lie in the middle of the normal range of plasma osmolality. Thirst increases linearly as pOsm rises. Thus, osmotically balanced fluid administered as per a patient's sensation of thirst should result in a plasma osmolality within the normal range. This work received no funding.
PubMed: 29344350
DOI: 10.1186/s13741-017-0081-4 -
Psychiatry Research Jul 2014Life-threatening hyponatremia in psychotic patients is common and typically is attributable to either antipsychotic medication or to acute psychosis in those with the... (Meta-Analysis)
Meta-Analysis Review
Life-threatening hyponatremia in psychotic patients is common and typically is attributable to either antipsychotic medication or to acute psychosis in those with the polydipsia-hyponatremia syndrome. The preferred treatment for one situation may worsen the hyponatremia if caused by the other situation. Hence it is critical to distinguish between these two possibilities. Case reports and series were identified through electronic databases. Fifty-four cases of hyponatremia without recognized causes in psychotic patients were divided into those with dilute (
osmolality) or concentrated (>plasma osmolality) urine. The distribution of urine concentration and measures likely to be associated with psychotic illness and its treatment were compared in both groups. Naranjo׳s scale was utilized to determine the probability hyponatremia was drug-induced. Urine osmolality fit a bimodal distribution (intersection 219mOsm/kg) better than a unimodal distribution. 'Probable' drug-induced cases occurred 6.8 (95%CI=1.6-28.9) times more often in those with concentrated urine. Acute psychotic exacerbations occurred 4.5 (95%CI=0.4-54.1) times more often in those with dilute urine. These findings, as well as several other trends in the data, indicate that measures of urine concentration can help distinguish between antipsychotic-induced and psychosis-induced hyponatremia. Topics: Antipsychotic Agents; Humans; Hyponatremia; Osmolar Concentration; Psychotic Disorders
PubMed: 24726819
DOI: 10.1016/j.psychres.2014.03.021 -
Kidney International Nov 2005The role of osmolality of contrast media (CM) in the pathogenesis of contrast-induced nephropathy (CIN) has been suggested by studies comparing high osmolality CM (>1500... (Review)
Review
BACKGROUND
The role of osmolality of contrast media (CM) in the pathogenesis of contrast-induced nephropathy (CIN) has been suggested by studies comparing high osmolality CM (>1500 mOsm/kg) with low-osmolality CM (550-850 mOsm/kg), and by the results of a recent comparison of a CM isotonic to plasma (iodixanol, 290 mOsm/kg) with a low-osmolality CM (iohexol, 844 mOsm/kg) in high-risk patients undergoing cardiac or peripheral angiography.
METHODS
Using prospectively defined search criteria, we performed a systematic overview of prospective, randomized, controlled studies of CIN in renally impaired patients receiving intra-arterial doses of iodixanol or low-osmolality, nonionic CM, and conducted a systematic review of the data from those studies to determine whether the osmolality of CM was predictive of CIN incidence.
RESULTS
Seventeen primary studies met the selection criteria, for a total of 1365 patients. Overall, the incidence of CIN was 16.8%. A multivariate logistic regression model showed that the risk of CIN is similar with the iso-osmolality iodixanol and the low-osmolality iopamidol (796 mOsm/kg). The risk of CIN was significantly lower with iodixanol and iopamidol compared to iohexol. The incidence of CIN with iohexol was also significantly higher than with iopamidol, despite their similar osmolalities.
CONCLUSION
These data suggest that factors other than osmolality play a significant role in the pathogenesis of CIN, at least for agents with osmolalities of 800 mOsm/kg or less.
Topics: Acute Kidney Injury; Contrast Media; Humans; Incidence; Iohexol; Kidney Failure, Chronic; Osmolar Concentration; Risk Factors; Triiodobenzoic Acids
PubMed: 16221227
DOI: 10.1111/j.1523-1755.2005.00684.x -
Medicine Mar 2023Preventing contrast-induced acute kidney injury (CI-AKI) is critical because of its association with poor clinical outcomes, including extended hospital stays and... (Meta-Analysis)
Meta-Analysis
Preventing contrast-induced acute kidney injury with probucol and hydration in patients with coronary heart disease: A systematic review and meta-analysis of randomized controlled trials.
BACKGROUND
Preventing contrast-induced acute kidney injury (CI-AKI) is critical because of its association with poor clinical outcomes, including extended hospital stays and increased mortality. The effects of probucol on preventing CI-AKI have been controversial. Therefore, this systematic review and meta-analysis evaluated the influence of probucol combined with hydration on the CI-AKI risk in patients with coronary heart disease undergoing coronary angiography (CAG) or percutaneous coronary intervention (PCI).
METHODS
We retrieved data from the following databases from their inception to May 29, 2022: PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Chinese Biomedical Literature Database (Sinomed), Wanfang Database, and Chinese Scientific Journal Database. The methodological quality of the trials was assessed following the Cochrane Handbook guidelines, and Review Manager 5.3 and Stata 14.0 software were used for the data analysis.
RESULTS
We included 14 trials comprising 3306 patients in the analysis. All included trials reported the CI-AKI incidence rate (the primary outcome). Probucol with hydration significantly reduced the CI-AKI incidence compared to hydration alone (odds ratio [OR]: 0.33, 95% confidence interval [CI]: 0.25-0.44, P < .001). Subgroup analyses were performed based on the contrast medium type (iso-osmolality vs low-osmolality contrast medium [LOCM]) and volume (less than or more than 200 mL); the effects of probucol with hydration versus hydration-only on CI-AKI were comparable within each subgroup. Additionally, the serum creatinine (Scr) concentration 24 hours, 48 hours, and 72 hours and the estimated glomerular filtration rate (eGFR) 72 hours after contrast exposure were better in the probucol with hydration group than the hydration-only group. Finally, major clinical adverse events and adverse drug reactions were comparable between the probucol with hydration and hydration-only groups.
CONCLUSION
Probucol with hydration decreases the CI-AKI incidence compared to hydration only in patients with coronary heart disease undergoing CAG or PCI. However, more high-quality, large-sample, multicenter randomized trials are needed to confirm this conclusion.
Topics: Humans; Probucol; Contrast Media; Percutaneous Coronary Intervention; Randomized Controlled Trials as Topic; Coronary Angiography; Coronary Disease; Drug-Related Side Effects and Adverse Reactions; Acute Kidney Injury; Risk Factors; Multicenter Studies as Topic
PubMed: 36930109
DOI: 10.1097/MD.0000000000033273 -
Magnesium Research Dec 2011To understand humans' requirements for magnesium and the effect of magnesium on health, it is important to identify sensitive and population-specific biomarkers of... (Review)
Review
To understand humans' requirements for magnesium and the effect of magnesium on health, it is important to identify sensitive and population-specific biomarkers of magnesium status. Thus, we assessed the effectiveness of different magnesium status biomarkers through a systematic review of published magnesium supplementation and depletion trials in healthy humans. The methods used in this study included a structured search on Ovid MEDLINE, EMBASE (Ovid) and Cochrane databases up to September 2008, followed by the use of formal inclusion/exclusion criteria, data extraction, validity assessment, and meta-analysis. A total of 20 potential biomarkers of magnesium status were assessed from 21 included publications. The majority of studies included were magnesium supplementation studies. Fewer magnesium depletion studies were identified. Available data analysis suggests that serum/plasma magnesium concentration, red blood cell (RBC) concentration and urinary magnesium excretion responded to dietary manipulation. For other biomarkers with available data, it was not possible to draw any conclusions about their usefulness as magnesium status biomarkers. The lack of data prevented detailed subgroup analysis. In conclusion, although limited data were available, serum/plasma magnesium concentration, RBC magnesium concentration and urinary magnesium excretion appear to be useful biomarkers of magnesium status in the general population. Further high-quality studies are needed to assess the effectiveness of existing and newly developed biomarkers, especially in populations that are vulnerable to magnesium deficiency.
Topics: Algorithms; Biomarkers; Blood Chemical Analysis; Erythrocytes; Humans; Magnesium; Nutrition Assessment; Nutritional Status; Osmolar Concentration; Saliva; Urinalysis
PubMed: 22064327
DOI: 10.1684/mrh.2011.0292 -
Nutrients Jun 2020Although there are merits in using commercial "enteral nutrition formula" (ENF) compared with blended ENF, there is a growing preference for the use of blended ENF in... (Comparative Study)
Comparative Study Meta-Analysis
BACKGROUND
Although there are merits in using commercial "enteral nutrition formula" (ENF) compared with blended ENF, there is a growing preference for the use of blended ENF in many countries globally. However, the nutritional value and physical properties of blended ENF compared with commercial ENF may be limiting its use. We have not found any evidence of a meta-analysis on the nutritional value of blended diets in the adult population.
AIM
The aim of this review was to compare the nutritional value, physical properties, and clinical outcomes of blended ENF with commercial ENF.
METHODS
The preferred reporting items for systematic reviews and meta-analyses were used for this review. The search strategy was based on a Population, Intervention, Comparator, Outcome framework. The following databases; Pubmed, EMBASE, PSYCInfo, and Google scholar were searched for articles of interest using keywords, Medical Subject Heading (MeSH) and Boolean operators (AND/OR) from the inception of each database until 23 February 2020. The articles were evaluated for quality.
RESULTS
Based on the systematic review and meta-analysis, four distinct themes were identified; Nutritional value, Physical properties, Clinical outcomes; and Adverse events. The findings of this review showed inconsistencies in the macronutrient and micronutrient values of the blenderised ENF compared with the commercial ENF. The results of the meta-analysis demonstrated that there were no significant differences ( > 0.05) between the blenderised ENF and the commercial ENF in relation to the fat and protein contents of the diets. However, the blenderised ENF was significantly lower ( < 0.05) than the commercial ENF regarding the energy content of the diets, with an overall mean difference of -29.17 Kcal/100 mL (95% CI, -51.12, -7.22) and carbohydrate content with an overall mean difference of -5.32 g/100 mL (95% CI, -7.64, -3.00). In terms of sodium, potassium, and vitamin A, there were no significant differences ( > 0.05) between the blenderised and commercial ENF, although significant differences ( < 0.05) were observed between the two diets with respect to calcium, phosphorus, magnesium, zinc, iron, and vitamin C contents. Furthermore, the blenderised ENF showed significantly higher levels ( < 0.05) of viscosity and osmolality than the commercial ENF. The significantly lower levels of some of the macro-nutrients and micro-nutrients in the blenderised ENF compared with the commercial ENF and the difference in the expected nutritional values may be due to the fact blenderised ENF is produced from common foods. Thus, the type of foodstuffs, cooking, and processing methods may lead to loss of nutrients and energy density. The deficits in the energy content and some of the macro- and micro-nutrients in the blenderised ENF compared with commercial ENF may have implications for patients' health and clinical outcomes. The clinical implications of the underdelivering of nutrients may include increased risk of undernutrition, including energy malnutrition, which could have a negative effect on body composition and anthropometric parameters, morbidity, mortality, length of hospital stay, and costs. For outpatient care, this could increase the risk of hospital re-admission and homecare costs. Additionally, the higher viscosity and osmolality of the blenderised ENF compared with the commercial ENF can increase the risk of complications, including tube blockage, and impaired delivery of feed, water, and medications, with significant implications for patients' nutritional status and health outcomes.
CONCLUSION
The results of this systematic review and meta-analysis identified significant variability in the nutritional value of blenderised ENF compared with commercial ENF. Furthermore, the nutritional values of the blenderised ENF do not meet the expected recommended levels compared with commercial ENF and these may have implications for patients' nutritional status and health outcomes, including the effect on body composition, morbidity, mortality, hospital re-admission, and costs. Further studies are needed to elucidate the nutritional value of blenderised ENF on patients' clinical outcomes.
Topics: Adult; Aged; Aged, 80 and over; Commerce; Diet; Enteral Nutrition; Female; Food Handling; Food, Formulated; Hospitalization; Humans; Male; Malnutrition; Middle Aged; Nutrients; Nutritional Status; Nutritive Value
PubMed: 32575695
DOI: 10.3390/nu12061840 -
Brain and Behavior Jun 2018Introduce and evaluate a new model which explains the release of brain antidiuretic hormone (ADH) independent of plasma osmolality.
OBJECTIVE
Introduce and evaluate a new model which explains the release of brain antidiuretic hormone (ADH) independent of plasma osmolality.
METHODS
Systematic review and critical analysis of the professional literature.
RESULTS
Primary electronic database searches using key terms revealed 57,432 hits. Secondary searches with application of specific inclusion and exclusion criteria and manual inspection for completeness reduced the total number of studies to fourteen (N = 14). Twelve (N = 12) studies investigated human subjects in the hospital settings, and two (N = 2) studies investigated animals (rhesus monkeys and dog) under invasive experimental conditions. All fourteen studies included direct or indirect indicators of intracranial pressure (ICP), measurements of plasma ADH, and plasma osmolality or urine osmolality. Findings, in brief, reveal a stable and positive association between increased intracranial pressure (ICP) and increased ADH release, in patients with low or normal blood osmolality. Findings are reliable and reproducible across human and animal populations.
CONCLUSIONS
Findings support the proposed model, which explains increase secretion of brain ADH when plasma osmolality is low or within normal limits. Mechanical pressures exerted on hypothalamic nuclei, especially paraventricular and supra-optic nuclei, as a consequence of increased intracranial pressure, produce release of ADH, independent of plasma osmolality. The mechanical pressure model explains release of ADH previously unexplained by traditional plasma osmolality models. Findings have important clinical implications for the medical and surgical management of patients.
Topics: Animals; Female; Humans; Intracranial Hypertension; Intracranial Pressure; Male; Neurophysins; Osmolar Concentration; Protein Precursors; Vasopressins
PubMed: 29791061
DOI: 10.1002/brb3.1005 -
Archives of Disease in Childhood Oct 2003To assess what is known about the risks associated with errors in reconstituting the present generation of infant formula feeds, and to examine which methods are likely... (Review)
Review
AIMS
To assess what is known about the risks associated with errors in reconstituting the present generation of infant formula feeds, and to examine which methods are likely to be safest.
METHODS
Systematic review, and examination of the range of infant formula products currently on sale in the UK. Studies from developed countries conducted after 1977 were included. All studies investigating the reconstitution of formula feeds for full term, healthy babies were eligible. Parameters studied were: measures of accuracy of feed reconstitution including fat, protein, total solids, energy content, and osmolality of feed; weight of powder in scoop; and reported method of preparing feed and measuring powder. Formula products were collected from one large UK supermarket in 2002. Number of different types of infant formula preparations available for sale were determined, together with scoop sizes for powdered preparations.
RESULTS
Only five studies were identified, none of adequate quality or size. All found errors in reconstitution, with a tendency to over-concentrate feeds; under-concentration also occurred. Thirty one different formula preparations were available for sale in one UK supermarket, with a range of scoop sizes. Some preparations had never been tested.
CONCLUSIONS
There is a paucity of evidence available to inform the proper use of breast milk substitutes, and a large array of different preparations for sale. Given the impact incorrect reconstitution of formula feeds can have on the health of large numbers of babies, there is an important and urgent need to examine ways of minimising the risks of feed preparation.
Topics: Animals; Bottle Feeding; Food Handling; Humans; Infant; Infant Food; Milk; Risk Factors
PubMed: 14500301
DOI: 10.1136/adc.88.10.855 -
PloS One 2016Avian influenza viruses are able to persist in the environment, in-between the transmission of the virus among its natural hosts. Quantifying the environmental factors... (Meta-Analysis)
Meta-Analysis Review
Avian influenza viruses are able to persist in the environment, in-between the transmission of the virus among its natural hosts. Quantifying the environmental factors that affect the persistence of avian influenza virus is important for influencing our ability to predict future outbreaks and target surveillance and control methods. We conducted a systematic review and quantitative meta-analysis of the environmental factors that affect the decay of low pathogenic avian influenza virus (LPAIV) in water. Abiotic factors affecting the persistence of LPAIV have been investigated for nearly 40 years, yet published data was produced by only 26 quantitative studies. These studies have been conducted by a small number of principal authors (n = 17) and have investigated a narrow range of environmental conditions, all of which were based in laboratories with limited reflection of natural conditions. The use of quantitative meta-analytic techniques provided the opportunity to assess persistence across a greater range of conditions than each individual study can achieve, through the estimation of mean effect-sizes and relationships among multiple variables. Temperature was the most influential variable, for both the strength and magnitude of the effect-size. Moderator variables explained a large proportion of the heterogeneity among effect-sizes. Salinity and pH were important factors, although future work is required to broaden the range of abiotic factors examined, as well as including further diurnal variation and greater environmental realism generally. We were unable to extract a quantitative effect-size estimate for approximately half (50.4%) of the reported experimental outcomes and we strongly recommend a minimum set of quantitative reporting to be included in all studies, which will allow robust assimilation and analysis of future findings. In addition we suggest possible means of increasing the applicability of future studies to the natural environment, and evaluating the biological content of natural waterbodies.
Topics: Animals; Birds; Disease Outbreaks; Influenza A virus; Influenza in Birds; Salinity; Temperature; Water Microbiology
PubMed: 27736884
DOI: 10.1371/journal.pone.0161929