Metabolomics and physio-chemical analyses of mulberry plants leaves response to manganese deficiency and toxicity reveal key metabolites and their pathways in manganese tolerance.

Introduction: Manganese (Mn) plays a pivotal role in plant growth and development. Aside aiding in plant growth and development, Mn as heavy metal (HM) can be toxic in soil when applied in excess. Morus alba is an economically significant plant, capable of adapting to a range of environmental conditions and possessing the potential for phytoremediation of contaminated soil by HMs. The mechanism by which M. alba tolerates Mn stresses remains obscure. Methods: In this study, Mn concentrations comprising sufficiency (0.15 mM), higher regimes (1.5 mM and 3 mM), and deficiency (0 mM and 0.03 mM), were applied to M. alba in pot treatment for 21 days to understand M. alba Mn tolerance. Mn stress effects on the net photosynthetic rate (Pn), stomatal conductance (Gs), transpiration rate (Tr), intercellular CO2 concentration (Ci), chlorophyll content, plant morphological traits, enzymatic and non-enzymatic parameters were analyzed as well as metabolome signatures via non-targeted LC-MS technique. Results: Mn deficiency and toxicity decrease plant biomass, Pn, Ci, Gs, Tr, and chlorophyll content. Mn stresses induced a decline in the activities of catalase (CAT) and superoxide dismutase (SOD), while peroxidase (POD) activity, and leaf Mn content, increased. Soluble sugars, soluble proteins, malondialdehyde (MDA) and proline exhibited an elevation in Mn deficiency and toxicity concentrations. Metabolomic analysis indicates that Mn concentrations induced 1031 differentially expressed metabolites (DEMs), particularly amino acids, lipids, carbohydrates, benzene and derivatives and secondary metabolites. The DEMs are significantly enriched in alpha-linolenic acid metabolism, biosynthesis of unsaturated fatty acids, galactose metabolism, pantothenate and CoA biosynthesis, pentose phosphate pathway, carbon metabolism, etc. Discussion and conclusion: The upregulation of Galactinol, Myo-inositol, Jasmonic acid, L-aspartic acid, Coproporphyrin I, Trigonelline, Pantothenol, and Pantothenate and their significance in the metabolic pathways makes them Mn stress tolerance metabolites in M. alba. Our findings reveal the fundamental understanding of DEMs in M. alba's response to Mn nutrition and the metabolic mechanisms involved, which may hold potential significance for the advancement of M. alba genetic improvement initiatives and phytoremediation programs.

Assessment of aortic dilatation in Chinese children and adolescents with Turner syndrome: a single center experience.

BACKGROUND: Patients with Turner syndrome (TS) face an increased risk of developing aortic dilatation (AD), but diagnosing AD in children presents greater complexity compared to adults. This study aimed to investigate the application of various assessment indicators of AD in Chinese children and adolescents with TS. METHODS: This study included TS patients admitted to Shenzhen Children's Hospital from 2017 to 2022. Cardiovascular lesions were diagnosed by experienced radiologists. Patients without structural heart disease were divided into different body surface area groups, then the Chinese TS population Z-score (CHTSZ-score) of the ascending aorta was calculated and compared with other indicators such as aortic size index (ASI), ratio of the ascending to descending aortic diameter (A/D ratio), and TSZ-score (Quezada's method). RESULTS: A total of 115 TS patients were included, with an average age of 10.0 ± 3.7 years. The incidences of the three most serious cardiovascular complications were 9.6% (AD), 10.4% (coarctation of the aorta, CoA), and 7.0% (bicuspid aortic valve, BAV), respectively. The proportion of developing AD in TS patients aged ≥ 10 years was higher than that in those < 10 years old (16.6% vs. 1.8%, P = 0.009), and the proportion of patients with CoA or BAV who additionally exhibited AD was higher than those without these conditions (31.6% vs. 5.2%, P < 0.001). The ASI, A/D ratio, TSZ-score, and CHTSZ-score of the 11 patients with AD were 2.27 ± 0.40 cm/m2, 1.90 ± 0.37, 1.28 ± 1.08, and 3.07 ± 2.20, respectively. Among the AD patients, only 3 cases had a TSZ-score ≥ 2, and 2 cases had a TSZ-score ≥ 1. However, based on the assessment using the CHTSZ-score, 6 patients scored ≥ 2, and 5 patients scored ≥ 1. In contrast, the TSZ-score generally underestimated the aortic Z-scores in Chinese children with TS compared to the CHTSZ-score. CONCLUSIONS: The applicability of ASI and A/D ratio to children with TS is questionable, and racial differences can affect the assessment of TSZ-score in the Chinese population. Therefore, establishing the CHTSZ-score specifically tailored for Chinese children and adolescents is of paramount importance.

Comparative Physio-Biochemical and Transcriptome Analyses Reveal Contrasting Responses to Magnesium Imbalances in Leaves of Mulberry (Morus alba L.) Plants.

Magnesium (Mg) deficiency is a major factor limiting the growth and development of plants. Mulberry (Morus alba L.) is an important fruit tree crop that requires Mg for optimal growth and yield, especially in acid soils. However, the molecular mechanism of Mg stress tolerance in mulberry plants remains unknown. In this study, we used next-generation sequencing technology and biochemical analysis to profile the transcriptome and physiological changes of mulberry leaves under different Mg treatments (deficiency: 0 mM, low: 1 mM, moderate low: 2 mM, sufficiency: 3 mM, toxicity: 6 mM, higher toxicity: 9 mM) as T1, T2, T3, CK, T4, T5 treatments, respectively, for 20 days. The results showed that Mg imbalance altered the antioxidant enzymatic activities, such as catalase (CAT), peroxidase (POD), and superoxide dismutase (SOD), and non-enzymatic, including soluble protein, soluble sugar, malondialdehyde (MDA), and proline (PRO), contents of the plant. The Mg imbalances disrupted the ultrastructures of the vital components of chloroplast and mitochondria relative to the control. The transcriptome data reveal that 11,030 genes were differentially expressed (DEGs). Genes related to the photosynthetic processes (CAB40, CAB7, CAB6A, CAB-151, CAP10A) and chlorophyll degradation (PAO, CHLASE1, SGR) were altered. Antioxidant genes such as PER42, PER21, and PER47 were downregulated, but DFR was upregulated. The carbohydrate metabolism pathway was significantly altered, while those involved in energy metabolism processes were perturbed under high Mg treatment compared with control. We also identified several candidate genes associated with magnesium homeostasis via RT-qPCR validation analysis, which provided valuable information for further functional characterization studies such as promoter activity assay or gene overexpression experiments using transient expression systems.

Anti-synthetase syndrome in a child with pneumomediastinum: a case report and literature review.

BACKGROUND: Anti-synthetase syndrome (ASS) is a group of rare clinical subtypes within inflammatory myopathies, predominantly affecting adult females. Instances of critical illness associated with ASS in children are even rarer. CASE PRESENTATION: We report the case of a 7-year-old boy finally diagnosed with ASS, combined with pneumomediastinum. He presented with intermittent fever persisting for 12 days, paroxysmal cough for 11 days, chest pain, and shortness of breath for 4 days, prompting admission to our hospital. Pre-admission chest CT revealed diffuse pneumomediastinum, subcutaneous pneumatosis in the neck and bilateral chest wall, consolidation, atelectasis, and reticular nodular shadowing in both lungs, as well as pericardial effusion and bilateral pleural effusions. Laboratory tests revealed a positive result for serum MP immunoglobulin M (MP-IgM) and MP immunoglobulin G (MP-IgG). The patient was initially diagnosed with mycoplasma pneumoniae (MP) infection, and following 3 days of antibiotic treatment, the patient's tachypnea worsened. Positive results in muscle enzyme antibody tests included anti-PL-12 antibody IgG, anti-Jo-1 antibody IgG, and anti-RO-52 antibody IgG. Ultrasonography detected moderate effusions in the right shoulder, bilateral elbow, and knee joints. Corticosteroids pulse therapy was initiated on the 27th day following disease onset, and continued for 3 days, followed by sequential therapy for an additional 12 days. The child was discharged on the 43rd day, and subsequent follow-up revealed a significant improvement in consolidation and interstitial lesions in both lungs. CONCLUSIONS: ASS in children may combine with rapidly progressive interstitial lung disease (RPILD) and pneumomediastinum. It is crucial to promptly identify concurrent immunologic abnormalities during the outbreak of MP, particularly when the disease exhibits rapid progression with ineffective conventional antibiotic therapy.

Effectiveness of High-Speed T2-Corrected Multiecho MR Spectroscopic Method for Quantifying Thigh Muscle Fat Content in Boys With Duchenne Muscular Dystrophy.

OBJECTIVE. The purpose of this study was to investigate the potential of high-speed T2-corrected multiecho (HISTO) MR spectroscopy (MRS) for rapidly quantifying the fat content of thigh muscles in children with Duchenne muscular dystrophy (DMD). SUBJECTS AND METHODS. This study prospectively enrolled 58 boys with DMD (mean age, 7.5 years; range, 4-11 years) and 30 age-matched healthy boys (mean age, 7.2 years; range, 4-11 years) at one institution over a 1-year period. T1- and T2-weighted, multiecho Dixon, and HISTO sequences were performed on the right adductor magnus and vastus lateralis muscles. The fat fractions of these muscles were acquired from HISTO and multiecho Dixon images. An experienced radiologist graded the degree of fat infiltration of the adductor magnus and vastus lateralis muscles on axial T1-weighted images. The Bland-Altman method was used to assess the consistency and repeatability of the HISTO sequence. Pearson linear correlation analysis was used to determine the correlation coefficient relating HISTO fat fraction to multiecho Dixon fat fraction values. Spearman rank correlation analysis was used to assess the relation between the HISTO fat fraction values and T1-weighted image fat infiltration grades. The independent t test was used to compare the HISTO fat fraction values of the boys with DMD with those of the healthy control subjects. RESULTS. Bland-Altman analysis showed that 95.5% of the HISTO fat fraction values of the adductor magnus were within the 95% CI. HISTO fat fraction and multiecho Dixon fat fraction values of the adductor magnus and vastus lateralis muscles were highly positively correlated (adductor magnus, r = 0.983; vastus lateralis, r = 0.967; p < 0.0001). HISTO fat fraction values were also highly positively correlated with the grades of fat infiltration on T1-weighted images (adductor magnus, r = 0.911; vastus lateralis, r = 0.937; p < 0.0001). The HISTO fat fraction of the adductor magnus muscle was 33.3% ± 22.6% and of the vastus lateralis muscle was 25.6% ± 20.3% in patients with DMD. The corresponding values were 2.9% ± 2.1% and 2.3% ± 1.9% in the control group. The differences were statistically significant (p < 0.0001). CONCLUSION. The HISTO sequence is a rapid and feasible noninvasive MRS technique for quantifying the fat infiltration of thigh muscles in children with known or suspected DMD. It is useful for diagnosis and for assessment of disease activity and prognosis.

Evaluation of Unroofed Coronary Sinus Syndrome Using Cardiovascular CT Angiography: An Observational Study.

OBJECTIVE: The purpose of this study was to determine the prevalence of unroofed coronary sinus (CS) syndrome at a tertiary hospital and analyze the clinical information, cardiovascular CT angiography (CCTA) imaging findings, associated anomalies, and surgical treatment of the identified cases. MATERIALS AND METHODS: We retrospectively searched the database of a tertiary hospital for cases of unroofed CS syndrome among patients who underwent CCTA for known or suspected congenital heart disease. After the prevalence of unroofed CS syndrome was determined, CCTA findings, associated cardiovascular abnormalities, presence or absence of airway compression, clinical information, and surgical outcome were recorded. RESULTS: A total of 23 patients with unroofed CS syndrome were identified, with the syndrome therefore having a prevalence of 0.36% among patients with congenital heart disease who underwent CCTA. The diagnostic accuracy of CCTA for unroofed CS syndrome was 100%, whereas that of echocardiography was 69%. Type I unroofed CS syndrome was the most commonly noted type (52% of patients). All 23 patients had associated cardiovascular anomalies, including persistent left superior vena cava (65% of patients) and atrial septal defect (65%). Surgery was performed for 70% of patients because of cardiovascular anomalies. Seven patients (30%) had associated secondary airway compression but did not require surgical correction. CONCLUSION: At our institution, the prevalence of unroofed CS syndrome was 0.36% among patients with congenital heart disease who underwent CCTA. CCTA has excellent diagnostic performance, delineating different subtypes of unroofed CS syndrome and associated cardiovascular planning for treatment of unroofed CS syndrome abnormalities, improving clinical decision making, and permitting preoperative planning for treatment of unroofed CS syndrome.

Role of diffusion-weighted imaging for detecting bone marrow infiltration in skull in children with acute lymphoblastic leukemia.

PURPOSE: We aimed to determine whether diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurement can detect skull bone marrow infiltration in newly diagnosed acute lymphoblastic leukemia (ALL) children before therapy and normalization in complete remission after treatment. METHODS: Fifty-one newly diagnosed acute lymphoblastic leukemia (ALL) patients and 30 healthy age-matched subjects were included. Cranial magnetic resonance imaging (MRI) scans were reviewed, and skull marrow ADC values were compared before treatment and in complete remission after therapy. RESULTS: Skull marrow infiltration, manifested with abnormal DWI signals, was present in 37 patients (72.5%) before treatment. Of these, 23 (62.2%) showed scattered signal abnormalities and 14 (37.8%) showed a uniform abnormal signal pattern. Compared with the control group, ADC was significantly decreased in patients with ALL. DWI signal intensity and ADC normalized in patients with complete remission. CONCLUSION: DWI is a useful and noninvasive tool for detecting skull infiltration in ALL children before treatment and normalization at complete remission after therapy, and it is superior to conventional MRI in terms of conspicuity of these lesions. DWI could be used as an MRI biomarker for evaluation of treatment in ALL children.

Application of MR virtual endoscopy in children with hydrocephalus.

PURPOSE: To evaluate the performance of MR virtual endoscopy (MRVE) in children with hydrocephalus. MATERIALS AND METHODS: Clinical and imaging data were collected from 15 pediatric patients with hydrocephalus and 15 normal control children. All hydrocephalus patients were confirmed by ventriculoscopy or CT imaging. The cranial 3D-T1 weighted imaging data from fast spoiled gradient echo scan (FSPGR) were transported to working station. VE images of cerebral ventricular cavity were constructed with Navigator software. RESULTS: Cerebral ventricular MRVE can achieve similar results as ventriculoscopy in demonstrating the morphology of ventricular wall or intracavity lesion. In addition, MRVE can observe the lesion from distal end of obstruction, as well as other areas that are inaccessible to ventriculoscopy. MRVE can also reveal the pathological change of ventricular inner wall surface, and help determine patency of the cerebral aqueduct and fourth ventricle outlet. CONCLUSION: MR virtual endoscopy provides a non-invasive diagnostic modality that can be used as a supplemental approach to ventriculoscopy. However, its sensitivity and specificity need to be determined in the large study.

Relationship between renal apparent diffusion coefficient values and glomerular filtration rate in infants with congenital hydronephrosis.

The aim was to investigate the relationship between apparent diffusion coefficient (ADC) values measured by diffusion-weighted magnetic resonance imaging (DW MRI) and the split glomerular filtration rate (GFR) in infants with congenital hydronephrosis. Diffusion-weighted imaging (DWI) (b = 0 and 700 seconds/mm(2)) was performed with a General Electric Company (GE) Signa 1.5T MR unit in 46 infants suffering single congenital hydronephrosis and in 30 healthy infants as normal control group. The ADCs were calculated with regions of interest (ROIs) positioned in the renal parenchyma. The 46 obstructed kidneys were classified into four groups according to the GFR level: renal dysfunction compensated group, renal dysfunction decompensated group, renal failure group, and uremia group. The renal ADCs in six groups (normal kidneys in control group, contralateral kidneys, and four groups of hydronephrotic kidneys) were compared statistically using analysis of variance (ANOVA), and the correlative relationship between ADCs and GFR was examined by Pearson's correlation test. There were statistically significant differences in renal ADCs among the six groups. The ADCs of hydronephrotic kidneys were lower than that of the normal kidneys. There was a moderate positive correlation between the ADCs of hydronephrotic kidneys and split GFR (r = 0.744). This study indicated that the ADCs of congenital hydronephrotic kidneys were lower than that of normal renal parenchyma, and there was a positive correlation between the ADCs and split renal GFR, which demonstrates that the ADCs can reflect the filtration function of hydronephrotic kidneys and may provide some reference to help clinical physician to explore a novel noninvasive approach to evaluate the single renal function.