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Recent years have witnessed a surge in human sleep electroencephalography (EEG) studies, employing increasingly sophisticated analysis strategies to relate electrophysiological activity to cognition and disease. However, properly calculating and interpreting metrics used in contemporary sleep EEG requires attention to numerous theoretical and practical signal-processing details that are not always obvious. Moreover, the vast number of outcome measures that can be derived from a single dataset inflates the risk of false positives and threatens replicability. We review several methodological issues related to 1) spectral analysis, 2) montage choice, 3) extraction of phase and amplitude information, 4) surrogate construction, and 5) minimizing false positives, illustrating both the impact of methodological choices on downstream results, and the importance of checking processing steps through visualization and simplified examples. By presenting these issues in non-mathematical form, with sleep-specific examples, and with code implementation, this paper aims to instill a deeper appreciation of methodological considerations in novice and non-technical audiences, and thereby help improve the quality of future sleep EEG studies.
Variants of CACNA1G, which encodes Ca
3.1, have been reported to be associated with various neurological disorders.
Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and current-clamp analyses of HEK293T cells overexpressing these channels.
Two patients diagnosed with Rett syndrome and West syndrome were found to have known pathological CACNA1G mutations reported in cerebellar ataxia cohorts c.2881G>A, p.Ala961Thr and c.4591A>G, p.Met1531Val, respectively. One patient with Lennox-Gastaut syndrome was revealed to harbor a previously unreported heterozygous variant c.3817A>T, p.Ile1273Phe. Clinical symptoms of the two patients with known mutations included severe developmental delay without acquisition of the ability to walk independently. The patient with a potentially novel mutation showed developmental delay, intractable seizures, and mild cerebral atrophy on MRI, but the severity of symptoms was milder than in the former two cases. Electrophysiological study using HEK293T cells demonstrated significant changes of T-type Ca
currents by p.Ala961Thr and p.Met1531Val SNVs, which were likely to enhance oscillation of membrane potential at low frequencies. In contrast, p.Ile1273Phe showed no significant effects in our electrophysiological evaluations, with its pathogenesis remaining undetermined.
De novo variants of CACNA1G explain some neurodevelopmental disorders. Our study further provides information to understand the genotype-phenotype correlations of patients with CACNA1G mutations.
De novo variants of CACNA1G explain some neurodevelopmental disorders. Our study further provides information to understand the genotype-phenotype correlations of patients with CACNA1G mutations.The aim of the present study was to identify the clinical efficacy of glucocorticoid therapy on the treatment of patients with Coronavirus Disease 2019 (COVID-19) pneumonia. Clinical and laboratory parameters were collected from 308 patients with COVID-19 pneumonia from the fever clinic of Wuhan Pulmonary Hospital (Wuhan City, Hubei Province, China) between January 14, 2020 and February 9, 2020, of which 216 patients received low-dose (equivalent of methylprednisolone 0.75-1.5 mg/kg/d) glucocorticoid treatment. The effect of glucocorticoid on imaging progress, adverse events, nucleic acid results and the outcomes were investigated. Lymphocyte count and C-reactive protein (CRP) significantly differed between the glucocorticoid therapy and non-glucocorticoid therapy groups. Compared with the non-glucocorticoid therapy group, glucocorticoid therapy did not significantly influence the clinical course of COVID-19 pneumonia, including imaging progress and the time duration for negative transformation of nucleic acid. Glucocorticoid therapy did not significantly influence the outcomes nor the adverse events of COVID-19 pneumonia. selleck kinase inhibitor For the treatment of COVID-19 pneumonia, systemic and in-depth investigation is needed to determine the timing and dosage of glucocorticoids needed to inhibit overwhelming inflammatory response and not the protective immune response to COVID-19 pneumonia.Myocardial fibrosis is well-known to be the aberrant deposition of extracellular matrix (ECM), which may cause cardiac dysfunction, morbidity, and death. Traditional Chinese medicine formula Si-Miao-Yong-An Decoction (SMYAD), which is used clinically in cardiovascular diseases has been recently reported to able to resist myocardial fibrosis. The anti-fibrosis effects of SMYAD have been evaluated; however, its intricate mechanisms remain to be clarified. Here, we found that SMYAD treatment reduced the fibrosis injury and collagen fiber deposition that could improve cardiac function in isoprenaline (ISO)-induced fibrosis rat models. Combined with our systematic RNA-seq data of SMYAD treatment, we demonstrated that the remarkable up-regulation or down-regulation of several genes were closely related to the functional enrichment of TGF-β and AMPK pathways that were involved in myocardial fibrosis. Accordingly, we further explored the molecular mechanisms of SMYAD were mainly caused by AMPK activation and thereby suppressing its downstream Akt/mTOR and TGF-β/SMAD3 pathways. Moreover, we showed that the ECM deposition and secretion process were attenuated, suggesting that the fibrosis pathological features are changed. Interestingly, we found the similar AMPK-driven pathways in NIH-3T3 mouse fibroblasts treated with ISO. Taken together, these results demonstrate that SMYAD may be a new candidate agent by regulating AMPK-driven Akt/mTOR and TGF-β/SMAD3 pathways for potential therapeutic implications of myocardial fibrosis.
The secretory breast carcinoma is very rare in children. It represents less than 1% of malignancy cases in childhood and is even less common in males, with 15 cases reported until 2004. Therefore, the aim of this study is to report a male child with breast carcinoma and review literature.
A 14-year-old male patient with a history of a painless slow-growing lump in the left breast and, five years later, onset of yellow discharge from the papilla. Ultrasound scanning demonstrated a well- defined, regular, homogeneous and hypoechoic mass. Nodule excision was initially performed, followed by mastectomy, due to compromised radial margin. Immunohistochemistry revealed weakly positive estrogen and progesterone receptors. Adjuvant therapy was not required. Sixteen months after resection, the patient is well with no complaints or recurrence.
Due to its rarity, there is no therapeutic guideline. Although the recommended treatment is still surgical excision, there is no consensus as to its extent. Prognosis is usually favorable.
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