-
Materials (Basel, Switzerland) Jul 2023Composites synthesized from iron(III) citrate and carbon spheres, and activated with potassium compounds were prepared and then characterized using XRD, SEM, and...
Composites synthesized from iron(III) citrate and carbon spheres, and activated with potassium compounds were prepared and then characterized using XRD, SEM, and low-temperature nitrogen adsorption methods. The adsorption properties of the composites toward carbon dioxide were assessed using CO uptake measurement, as well as by measuring their selectivity toward carbon dioxide, given their further application as photocatalysts for the reduction of this gas. The effect of changing preparation conditions on the structural and adsorption properties of the material was assessed. The potential strength of such material is a synergistic effect between the high adsorption capacity related to the microporosity of carbon spheres combined with the catalytic properties of iron particles.
PubMed: 37569932
DOI: 10.3390/ma16155227 -
Children (Basel, Switzerland) Jul 2023Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and...
OBJECTIVES
Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
CASE PRESENTATION
We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented.
CONCLUSIONS
The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.
PubMed: 37508663
DOI: 10.3390/children10071166 -
Geochimica Et Cosmochimica Acta Jun 2023Green rusts (GR) are important drivers for trace metal and nutrient cycling in suboxic environments. We investigated whether green rusts would incorporate aluminum (Al)...
Green rusts (GR) are important drivers for trace metal and nutrient cycling in suboxic environments. We investigated whether green rusts would incorporate aluminum (Al) or other elements from naturally-formed clay minerals containing easily-weatherable clay minerals (e.g. mica, interlayered clays). We isolated the clay minerals from a Matapeake silt loam soil by removal of silt and sand, organic matter, and reducible oxides to study mechanisms of interaction between Fe(II) and soil-sourced clay minerals. We conducted batch Fe(II) sorption experiments at multiple near-neutral pHs (6.5-7.5) and reaction times (2 h-365 days). Mineral transformations were characterized by selective extractions, X-ray diffraction (XRD), and Fe X-ray absorption spectroscopy (XAS) analyzed by shell-fitting and linear combination fitting (LCF) with natural and synthetic standards. Clay mineral fraction contained a mixture of quartz, kaolinite, interlayered vermiculite, mica, and chlorite with significant structural Fe (2.6% wt). Uptake of Fe(II) increased with pH and kinetics were rapid until 5 days, followed by slow continuous Fe(II) uptake. Citrate-bicarbonate desorption kinetics from Fe(II) sorbed clay released more Al and silicon (Si) compared with unreacted soil clay fraction whereas magnesium (Mg) and potassium (K) were unaffected. Citrate-bicarbonate extracted Fe contained more Fe(II) than an ideal GR with an Fe(II)/Fe(III) molar ratio of 5.50. Analysis of the Fe EXAFS by both LCF and shell fitting was best modeled as a combination of Fe(III)-clay reduction to Fe(II) and precipitation of GR and Fe(II)-Al LDH. After 7 days of Fe(II) sorption, LCF identified 55.2% total Fe in clay, 33.4% GR(Cl) and 11.4% Fe(II)-Al LDH. These results provide novel evidence of Fe(II)-Al LDHs precipitating on naturally-formed soil clay minerals as a minor phase to GR. The geochemical implications are that GRs formed in soils and sediments should be considered to have Al and Si as well as Mg substitutions affecting their structure and reactivity.
PubMed: 37469621
DOI: 10.1016/j.gca.2023.04.001 -
Experimental and Therapeutic Medicine Aug 2023Distal renal tubular acidosis (RTA) is a rare adverse reaction to immune checkpoint inhibitors, which only occurs in a small number of cases. To the best of our...
Distal renal tubular acidosis (RTA) is a rare adverse reaction to immune checkpoint inhibitors, which only occurs in a small number of cases. To the best of our knowledge, distal RTA caused by sintilimab, a programmed cell death protein 1 (PD-1) inhibitor, has not been previously reported. In the present study, the case of a 62-year-old man with metastatic cardiac carcinoma treated with sintilimab anti-PD-1 therapy was reported. After the fourth administration of sintilimab, the treatment course was interrupted by metabolic hyperchloraemic acidosis with hypokalaemia. Following urine and blood tests, immunotherapy-induced distal RTA was suspected. Treatment with sintilimab and chemotherapy was stopped, and treatment with sodium bicarbonate and potassium citrate was started, which resulted in an adequate response. The present study provides the first case of distal RTA secondary to sintilimab treatment.
PubMed: 37456171
DOI: 10.3892/etm.2023.12084 -
American Journal of Translational... 2023Potassium voltage-gated channel subfamily Q member 1 (KCNQ1), is implicated in the onset and progression of gastric carcinoma (GC), one of the most common types of...
BACKGROUND
Potassium voltage-gated channel subfamily Q member 1 (KCNQ1), is implicated in the onset and progression of gastric carcinoma (GC), one of the most common types of stomach malignancies. This research aims to investigate the potential prognostic implications of KCNQ1 mRNA in GC using various databases such as The Cancer Genome Atlas (TCGA), The Human Protein Atlas (HPA), LinkedOmics, TISIDB, ESTIMATE, and TIMER.
METHODS
We searched the HPA database to obtain information on KCNQ1 levels in human normal tissues, organs, and cell lines as well as in pan-cancer tissues. Then, we used TIMER and UALCAN to comparatively analyze the KCNQ1 mRNA levels in different types of cancers relative to their adjacent normal counterparts. Based on TCGA and Gene Expression Omnibus, the correlation of clinical information with KCNQ1 expression was analyzed using logistic regression model. Univariable and Multivariate Cox analyses were then carried out to compare differences in survival among patients with different clinical characteristics. The multivariate methods, such as Kaplan-Meier plotter and GEPIA survival curves, were further employed to identify the correlation of KCNQ1 expression with overall survival (OS). Besides, LinkedOmics was used to identify differentially expressed genes for functional enrichment analysis.
RESULTS
KCNQ1 exhibited tissue-specific imprinting and expression in human normal tissues, organs and cell lines, while it was aberrantly expressed in pan-cancer tissues. Lower KCNQ1 mRNA expression was determined in GC tissue samples versus normal counterparts. In GC cases, elevated KCNQ1 levels were strongly linked to a longer OS and strongly correlated with invasion depth (χ=12.631, P=0.006), TNM stage (χ=8.750, P=0.033), differentiation grade (χ=7.426, P=0.024), and vital status (χ=5.676, P=0.017). Furthermore, KCNQ1 was identified by univariable and multivariate Cox analyses as an independent risk factor for GC. Based on Gene Ontology analysis, digestion as well as tricarboxylic acid metabolic, carbohydrate catabolic, and small molecule catabolic processes were differentially enriched in the up-regulated KCNQ1 phenotypic pathway. While carbon metabolism, fatty acid degradation, peroxisome, and citrate cycle (TCA cycle) were identified by the Kyoto Encyclopedia of Genes and Genomes-based analysis as pathways with differential enrichment.
CONCLUSION
Being a prognostic biomarker, KCNQ1 may play an inhibitory role and involve in the metabolic process of GC.
PubMed: 37434821
DOI: No ID Found -
CEN Case Reports Apr 2024A 11-year-old girl was referred to the pediatric nephrology services of our hospital for evaluation of vitamin-D-refractory rickets. She was born to second-degree...
A 11-year-old girl was referred to the pediatric nephrology services of our hospital for evaluation of vitamin-D-refractory rickets. She was born to second-degree consanguineous parents. On examination, she had wrist widening and bilateral genu varum. She had normal anion gap metabolic acidosis, hypokalemia, and hyperchloremia. The fractional excretion of bicarbonate was 3% and the urine anion gap was positive. She also had hypercalciuria, but no phosphaturia, glucosuria or aminoaciduria. In view of a family history of an elder sister having rigidity with cognitive and speech impairment, an ophthalmic evaluation by slit lamp examination was performed in the index case that revealed bilateral Kayser-Fleischer rings. Serum ceruloplasmin was low and 24-h urine copper was elevated in the index case. Whole exome sequencing unveiled a novel pathogenic variant in exon 2 of the ATP7B gene (chr13: c.470del; Depth: 142x) (homozygous) that resulted in a frameshift and premature truncation of the protein, 15 amino acids downstream to codon 157 (p. Cys157LeufsTer15; NM_000053.4) confirming Wilson disease. There were no mutations in the ATP6V0A4, ATP6V1B1, SLC4A1, FOXI1, WDR72 genes or other genes that are known to cause distal RTA. Therapy with D-penicillamine and zinc supplements was initiated. A low dose of 2.5 mEq/kg/day of potassium citrate supplementation normalized the serum bicarbonate levels. This case was notable for the absence of hepatic or neurological involvement at admission. Wilson disease is well known to cause proximal renal tubular acidosis and Fanconi syndrome, with relatively lesser involvement of the distal renal tubules in the literature. However, isolated distal renal tubular involvement as presenting manifestation of Wilson disease (without hepatic or neurological involvement) is rare and can lead to diagnostic confusion.
Topics: Aged; Child; Female; Humans; Acidosis, Renal Tubular; Bicarbonates; Forkhead Transcription Factors; Hepatolenticular Degeneration; Mutation; Potassium Citrate; Vacuolar Proton-Translocating ATPases
PubMed: 37415038
DOI: 10.1007/s13730-023-00806-6 -
Pharmaceuticals (Basel, Switzerland) May 2023Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations...
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations in the CLDN16 (FHHNC Type 1) or CLDN19 (FHHNC Type 2) genes, which are located on Chromosomes 3q27 and 1p34.2, respectively. There are no drug therapies for this condition. Although magnesium salts represent an important class of compounds and exhibit various therapeutic actions as a supplement for magnesium deficiency in FHHNC, various formulations on the market have different bioavailability. We report the case of a patient with FHNNC first treated, in our Pediatric Institute, with high doses of magnesium pidolate and magnesium and potassium citrate. The patient began to neglect this therapy after experiencing frequent daily episodes of diarrhoea. Our pharmacy received a request for an alternative magnesium supplement that would better comply by ensuring a good magnesium intake which will result in adequate blood magnesium levels. In response, we developed a galenic compound in the form of effervescent magnesium. Here, we report on the promise of this formulation not only for better compliance than pidolate, but also for better bioavailability.
PubMed: 37375733
DOI: 10.3390/ph16060785 -
Metagenomics reveals the effect of long-term fertilization on carbon cycle in the maize rhizosphere.Frontiers in Microbiology 2023Long-term fertilization can result in the changes in carbon (C) cycle in the maize rhizosphere soil. However, there have been few reports on the impacts of microbial...
Long-term fertilization can result in the changes in carbon (C) cycle in the maize rhizosphere soil. However, there have been few reports on the impacts of microbial regulatory mechanisms on the C cycle in soil. In the study, we analyzed the response of functional genes that regulate the C fixation, decomposition and methane (CH) metabolism in maize rhizosphere soil to different fertilization treatments using metagenomics analysis. As the dominant C fixation pathway in maize rhizosphere soil, the abundance of the functional genes regulating the reductive citrate cycle (rTCA cycle) including and was higher under the chemical nitrogen (N) fertilizer treatments [nitrogen fertilizer (N), compound chemical fertilization (NPK), the combination of compound chemical fertilizer with maize straw (NPKS)] than maize straw return treatments [maize straw return (S), the combination of phosphorus and potassium fertilizer with maize straw (PKS)]. The NPK treatment decreased the abundance of functional genes involved in 3-hydroxypropionate bicycle (3-HP cycle; , , and ), which was one of the major C fixation pathways in soil aside from dicarboxylate-hydroxybutyrate (DC/4-HB cycle) and Calvin cycle. The abundance of functional genes related to C degradation was higher in S, PKS and NPKS treatments than N and NPK treatments, and chemical N fertilizer application had a significant effect on C degradation. The dominant Methanaogenesis pathway in maize rhizosphere soil, used acetate as a substrate, and was significantly promoted under chemical N fertilizer application. The functional genes that were related to CH oxidation (i.e., and ) were reduced under N and NPK treatments. Moreover, soil chemical properties had a significant impact on the functional genes related to C fixation and degradation, with SOC (r = 0.79) and NO-N (r = 0.63) being the main regulators. These results implied that N fertilization rather than maize straw return had a greater influence on the C cycle in maize rhizosphere soil.
PubMed: 37275135
DOI: 10.3389/fmicb.2023.1170214