1.
Aldosterone signaling defect in young infants: single-center report and review.
Wijaya, M, Ma, H, Zhang, J, Du, M, Li, Y, Chen, Q, Guo, S
BMC endocrine disorders. 2021;(1):149
Abstract
BACKGROUND Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases. METHODS A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020. RESULTS A total of 187 patients with SW were enrolled, of which 90.4% (n = 169) were diagnosed with congenital adrenal hyperplasia (CAH). SW type 21-hydroxylase deficiency accounted for 98.8% (n = 167) of CAH diagnosis, while 1.2% (n = 2) was of lipoid CAH. Non-CAH comprised 9.6% (n = 18) of the total patients whose etiologies included SF-1 gene mutation (n = 1), X-linked adrenal hypoplasia congenita (n = 9), aldosterone synthase deficiency (ASD, n = 4), and pseudo-hypoaldosteronism type 1 (PHA1, n = 1). Etiologies were not identified in three patients. All of patients with ASD and PHA1 exhibited SW syndrome in their early neonatal period. DNA sequencing showed mutations of CYP11B2 for P1-P4 and NR3C2 for P5. P1 and P2 were sibling brothers affected by compound heterozygous mutations of c.1121G > A (p.R374Q) and c.1486delC p.(L496fs); likewise, P4 was identified with compound heterozygous mutations of c.1200 + 1G > A and c.240-1 G > T; meanwhile P3 demonstrated c.1303G > A p.(G435S) homozygous mutation in CYP11B2 gene. Lastly, P5 showed c.1768 C > T p.(R590*) heterozygous mutation in the NR3C2 gene. CONCLUSION Etiology of infant with aldosterone defect was mostly congenital. Renal and adrenal imaging are recommended to exclude renal causes. If clinical picture is suggestive, normal plasma Ald in early infancy cannot rule out aldosterone insufficiency.
2.
Hematoma Expansion: Clinical and Molecular Predictors and Corresponding Pharmacological Treatment.
Wang, G, Zhang, J
Current drug targets. 2017;(12):1367-1376
Abstract
BACKGROUND Hematoma expansion is a detrimental event of intracerebral hemorrhage (ICH) which results in progressive neurologic deteriorations and poor outcomes. OBJECTIVE To summariz the current understanding of the mechanisms underlying hematoma expansion and discuss the potential approaches of treatment and prevention. RESULTS Although the exact mechanism of hematoma expansion is unclear, accumulating evidences suggest that multiple clinical markers such as coagulation/hemostasis dysfunction, higher blood pressure and BRAIN scores, higher serum glucose and/or glycosylated hemoglobin A1c, serum creatinine, Factor XIII and international normalized ratio (INR), lower serum cholesterol or LDL cholesterol, and fibrinogen, may be correlated with incidents of hematoma expansion. Furthermore, activation of several molecular pathways (i.e. plasma kallikrein, von Willebrand factor, N-methyl-Daspartate and its receptor, cytokines/ adipokines, cellular fibronectin and apolipoprotein Eε2 allele) may lead to hematoma expansion. CONCLUSION Prospective study for hematoma expansion How to predict the patients Who are at highest risk of hematoma expansion is more challengeable than restricting hematoma expansion itself following acute ICH. Seeking and detecting risk markers in plasma that can be intervened appropriately is meaningful for patients with potential hematoma expansion, which may contribute to improve clinical outcomes in patients suffering from ICH.
3.
Longitudinal assessment of tau and amyloid beta in cerebrospinal fluid of Parkinson disease.
Zhang, J, Mattison, HA, Liu, C, Ginghina, C, Auinger, P, McDermott, MP, Stewart, T, Kang, UJ, , , Cain, KC, et al
Acta neuropathologica. 2013;(5):671-82
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Abstract
Tau gene has been consistently associated with the risk of Parkinson disease in recent genome wide association studies. In addition, alterations of the levels of total tau, phosphorylated tau [181P], and amyloid beta 1-42 in cerebrospinal fluid have been reported in patients with sporadic Parkinson disease and asymptomatic carriers of leucine-rich repeat kinase 2 mutations, in patterns that clearly differ from those typically described for patients with Alzheimer disease. To further determine the potential roles of these molecules in Parkinson disease pathogenesis and/or in tracking the disease progression, especially at early stages, the current study assessed all three proteins in 403 Parkinson disease patients enrolled in the DATATOP (Deprenyl and tocopherol antioxidative therapy of parkinsonism) placebo-controlled clinical trial, the largest cohort to date with cerebrospinal fluid samples collected longitudinally. These initially drug-naive patients at early disease stages were clinically evaluated, and cerebrospinal fluid was collected at baseline and then at endpoint, defined as the time at which symptomatic anti-Parkinson disease medications were determined to be required. General linear models were used to test for associations between baseline cerebrospinal fluid biomarker levels or their rates of change and changes in the Unified Parkinson Disease Rating Scale (total or part III motor score) over time. Robust associations among candidate markers are readily noted. Baseline levels of amyloid beta were weakly but negatively correlated with baseline Unified Parkinson Disease Rating Scale total scores. Baseline phosphorylated tau/total tau and phosphorylated tau/amyloid beta were significantly and negatively correlated with the rates of the Unified Parkinson Disease Rating Scale change. While medications (deprenyl and/or tocopherol) did not appear to alter biomarkers appreciably, a weak but significant positive correlation between the rate of change in total tau or total tau/amyloid beta levels and the change of the Unified Parkinson Disease Rating Scale was observed. Notably, these correlations did not appear to be influenced by APOE genotype. These results are one of the very first pieces of evidence suggesting that tau and amyloid beta are critically involved in early Parkinson disease progression, potentially by a different mechanism than that in Alzheimer disease, although their applications as Parkinson disease progression markers will likely require the addition of other proteins.
4.
Hydrogen peroxide in exhaled breath condensate in patients with asthma: a promising biomarker?
Teng, Y, Sun, P, Zhang, J, Yu, R, Bai, J, Yao, X, Huang, M, Adcock, IM, Barnes, PJ
Chest. 2011;(1):108-116
Abstract
BACKGROUND The measurement of hydrogen peroxide (H(2)O(2)) in exhaled breath condensate (EBC) has been proposed as a noninvasive way of monitoring airway inflammation. However, results from individual studies on EBC H(2)O(2) evaluation of asthma are conflicting. The purpose of this study was to explore whether EBC H(2)O(2) is elevated in people with asthma and whether it reflects disease severity and disease control or responds to corticosteroid treatment. METHODS Studies were identified by searching PubMed, Embase, Cochrane Database, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and www.controlled-trials.com for relevant reports published before September 2010. Observational studies comparing levels of EBC H(2)O(2) between patients with asthma who were nonsmokers and healthy subjects were included. Data were independently extracted by two investigators and analyzed using Stata 10.0 software. RESULTS Eight studies (involving 728 participants) were included. EBC H(2)O(2) concentrations were significantly higher in patients with asthma who were nonsmokers compared with healthy subjects, and higher values of EBC H(2)O(2) were observed at each level of asthma, classified either by severity or control level, and the values were negatively correlated with FEV(1). In addition, EBC H(2)O(2) concentrations were lower in patients with asthma treated with corticosteroids than in patients with asthma not treated with corticosteroids. CONCLUSIONS H(2)O(2) might be a promising biomarker for guiding asthma treatment. However, further investigation is needed to establish its role.