[Clinical features of peripheral neuropathy with livedo reticularis: an analysis of seven cases].

The clinical characteristics, auxiliary examinations, skin and neuropathological features of 7 patients who had reticular cyanosis with peripheral neuropathy from the Department of Neurology, Huashan Hospital, Fudan University from January 2019 to December 2022 were retrospectively analyzed. Among the 7 patients, 5 were female and 2 were male.The age of onset of peripheral neuropathy was (39.8±21.3) years and the disease duration of peripheral neuropathy was (2.7±2.3) years. Three patients had acute onset and 4 patients had chronic onset. All the patients had limb numbness, with limb weakness in 6 patients and pain in 5 cases. Neuroelectrophysiological examination revealed 1 case of mononeuropathy, 2 cases of polyneuropathy, 2 cases of peripheral neuropathy, and 2 cases of sensory neuron neuropathy. Skin biopsy was performed in 3 patients, which presented hyperplasia and expansion of blood vessels in the dermis with lymphocyte infiltration. Nerve biopsy was performed in 3 patients, indicating axonal damage. Reticular cyanosis with peripheral neuropathy characterizes with numbness and weakness of limbs, most of which were accompanied by pain. Electrophysiological changes are in various forms. The pathological changes are dominated by the damage of axonal.

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.

Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin. We present detailed phenotype and genotype data from a cohort of 40 cases with SCN4A gene mutations seen in neuromuscular diagnostic service in Huashan hospital, Fudan University. Cases were referred from 6 independent provinces from 2010 to 2018. A questionnaire covering demographics, precipitating factors, episodes of paralysis and myotonia was designed to collect the clinical information. Electrodiagnostic studies and muscle MRI were retrospectively analyzed. The clinical spectrum of patients included: 6 Hyperkalemic periodic paralysis (15%), 18 Hypokalemic periodic paralysis (45%), 7 sodium channel myotonia (17.5%), 4 paramyotonia congenita (10%) and 5 heterozygous asymptomatic mutation carriers (12.5%). Review of clinical information highlights a significant delay to diagnosis (median 15 years), reports of pain and myalgia in the majority of patients, male predominance, circadian rhythm and common precipitating factors. Electrodiagnostic studies revealed subclinical myotonic discharges and a positive long exercise test in asymptomatic carriers. Muscle MRI identified edema and fatty infiltration in gastrocnemius and soleus. A total of 13 reported and 2 novel SCN4A mutations were identified with most variants distributed in the transmembrane helix S4 to S6, with a hotspot mutation p.Arg675Gln accounting for 32.5% (13/40) of the cohort. Our study revealed a higher proportion of periodic paralysis in SCN4A-mutated patients compared with cohorts from England and the Netherlands. It also highlights the importance of electrodiagnostic studies in diagnosis and segregation studies.

[Clinical feature changes of a COVID-19 patient from mild to critical condition and cardiopulmonary pathological results].

Objective: To analyse the clinical history, laboratory tests and pathological data of a patient who suffered from novel coronavirus pneumonia(COVID-19) and provide reference for the clinical treatment of similar cases. Methods: Data of clinical manifestation, laboratory examination, bronchoscopy, echocardiography and cardiopulmonary pathological results were retrospectively reviewed in a case of COVID-19 with rapid exacerbation from mild to critical condition. Results: This patient hospitalized at day 9 post 2019 novel coronavirus(2019-nCoV) infection, experienced progressive deterioration from mild to severe at day 12, severe to critical at day 18 and underwent extracorporeal membrane oxygenation(ECMO) and continuous renal replacement therapy(CRRT) as well as heart lung transplantation during day 28-45 post infection, and died at the second day post heart and lung transplantation. The patient had suffered from hypertension for 8 years. At the early stage of the disease, his symptoms were mild and the inflammatory indices increased and the lymphocyte count decreased continuously. The patient's condition exacerbated rapidly with multi-organ infections, and eventually developed pulmonary hemorrhage and consolidation, pulmonary hypertension, right heart failure, malignant ventricular arrhythmias, liver dysfunction, etc. His clinical manifestations could not be improved despite viral RNAs test results became negative. The patient underwent lung and heart transplantation and finally died of multi organ failure at the second day post lung and heart transplantation. Pathological examination indicated massive mucus, dark red secretions and blood clots in bronchus. The pathological changes were mainly diffused pulmonary hemorrhagic injuries and necrosis, fibrosis, small vessel disease with cardiac edema and lymphocyte infiltration. Conclusions: The clinical course of severe COVID-19 can exacerbate rapidly from mild to critical with lung, liver and heart injuries.

Study of EGCG induced apoptosis in lung cancer cells by inhibiting PI3K/Akt signaling pathway.

OBJECTIVE: To investigate the role of phosphatidylinositol-3-kinase protein kinase B (PI3K/Akt) signaling pathway in the apoptosis of H1299 lung cancer cells induced by epigallocatechin gallate (EGCG). MATERIALS AND METHODS: H1299 lung cancer cells were treated with EGCG at a dose of 10 µM, 20 µM, and 40 µM, respectively. Cell culture was performed for 72 h and then: 1, cell proliferation was detected by MTT assay; 2, cell apoptosis rate was detected by flow cytometry; 3, expression of Caspase-3, Bax, and Bcl-2 was detected by Western blot; 4, expression of PI3K, p-PI3K, Akt, and p-Akt was detected by Western blot. RESULTS: The proliferation of H1299 cells was significantly inhibited 72 h after treatment with different doses of EGCG, and cell apoptosis rate was significantly increased (p<0.05). Compared with those in the control group, expression of PI3K and Akt in the lung cancer cells H1299 after EGCG treatment showed no significant differences (p>0.05), while expression levels of p-PI3K and p-Akt were significantly reduced (p<0.05). CONCLUSIONS: EGCG can inhibit the proliferation and induce apoptosis of H1299 lung cancer cells, and the effect is related to the inhibition of the activation of PI3K/Akt signaling pathway.

Oxygen defect engineering by the current effect assisted with temperature cycling in a perovskite-type La0.7Sr0.3CoO3 film.

Introducing and modulating the oxygen deficiency concentration have been received as an effective way to obtain high catalytic activity in perovskite oxides. However, it is difficult to control the oxygen vacancy in conventional oxygen defect engineering due to harsh reaction conditions at elevated temperatures and the reducing atmosphere, which make it impractical for many technological applications. Herein, we report a new approach to oxygen defect engineering based on the combination of the current effect and temperature cycling at low temperature. Our investigations revealed that the electrical conductivity of the (011)-La0.7Sr0.3CoO3/PMN-PT film changes continuously from metallicity to insulativity under repeated transport measurements below room temperature, which indicates the transformation of the Co4+ state to Co3+ in the film. Further experiments and analysis revealed that oxygen vacancies can be well regulated by the combined current effect and temperature cycling in repeated measurements, which results in a decrease of Co4+/Co3+ and thus the remarkable variation of conductive properties of the film. Our work provides a simple and highly efficient method to engineer oxygen vacancies in perovskite-type oxides and brings new opportunities in designing high-efficiency oxidation catalysts.

PROX1 promotes hepatocellular carcinoma proliferation and sorafenib resistance by enhancing ß-catenin expression and nuclear translocation.

Aberrant activation of the Wnt/ß-catenin pathway is frequent in hepatocellular carcinoma (HCC) and contributes to HCC initiation and progression. This abnormal activation may result from somatic mutations in the genes of the Wnt/ß-catenin pathway and/or dysregulation of the Wnt/ß-catenin pathway. The mechanism for the latter remains poorly understood. Prospero-related homeobox 1 (PROX1) is a downstream target of the Wnt/ß-catenin pathway in human colorectal cancer and elevated PROX1 expression promotes malignant progression. However, the Wnt/ß-catenin pathway does not regulate PROX1 expression in the liver and HCC cells. Here we report that PROX1 promotes HCC cell proliferation in vitro and tumor growth in HCC xenograft mice. PROX1 and ß-catenin levels are positively correlated in tumor tissues as well as in cultured HCC cells. PROX1 can upregulate ß-catenin transcription by stimulating the ß-catenin promoter and enhance the nuclear translocation of ß-catenin in HCC cells, which leads to the activation of the Wnt/ß-catenin pathway. Moreover, we show that increase in PROX1 expression renders HCC cells more resistant to sorafenib treatment, which is the standard therapy for advanced HCC. Overall, we have pinpointed PROX1 as a critical factor activating the Wnt/ß-catenin pathway in HCC, which promotes HCC proliferation and sorafenib resistance.

Mycobacterium tuberculosis and non-tuberculous mycobacteria isolates from HIV-infected patients in Guangxi, China.

BACKGROUND: Tuberculosis (TB) remains the leading cause of death among human immunodeficiency virus (HIV) infected persons. The prevalence of infection with Mycobacterium tuberculosis and non-tuberculous mycobacteria (NTM) in HIV-infected patients in China is unknown. OBJECTIVE: To estimate the prevalence of M. tuberculosis and NTM in HIV-infected patients in Guangxi Province, determine their drug resistance profiles, and evaluate the genotype patterns of M. tuberculosis strains. DESIGN: Samples were collected from two HIV designated hospitals in Guangxi Province between 2005 and 2008. HIV-infected patients who were culture-positive for mycobacteria were included. Drug susceptibility testing was performed for mycobacterial isolates. NTM species was identified by sequencing, and M. tuberculosis isolates were genotyped using the variable number of tandem repeats method. RESULTS: M. tuberculosis and NTM were identified in respectively 117 (53%) and 102 (47%) HIV-infected patients. Drug resistance was found in 27% and multi-drug-resistant TB (MDR-TB) in 11% of the patients with TB. Previous treatment for TB was significantly associated with MDR-TB. Twenty (17%) TB patients belonged to eight VNTR-defined clusters. CONCLUSION: The high frequency of NTM among HIV-infected patients raises concerns about accurate species identification before the determination of appropriate treatment. The potential for TB transmission exists among HIV-infected patients. Intensified screening and effective treatment of TB-HIV co-infected patients is urgently needed.

Structural phase transitions and out-of-plane dust lattice instabilities in vertically confined plasma crystals.

The formation of plasma crystals confined in an external one-dimensional parabolic potential well is simulated for a normal experimental environment employing a computer code called BOX_TREE. Under appropriate conditions, crystals were found to form layered systems. The system's structural phase transitions, including transitions between crystals with differing numbers of layers and the same number of layers but different intralayer structures, were investigated and found to agree with previous theoretical and experimental research results. One- to two-layer transitions were examined in detail and shown to start at the point where the out-of-plane lattice instability appears. The resulting three layer system caused by this instability was observed at the center of the system. Finally, growth rates for this out-of-plane lattice instability were obtained using the BOX_TREE simulation with these results shown to agree with those obtained from analytical theory.

Dispersion properties of the out-of-plane transverse wave in a two-dimensional Coulomb crystal.

The formation of a two-dimensional (2D) Coulomb crystal in a typical experimental environment was simulated with a computer code called BOX_TREE. The dispersion properties of a novel dust lattice wave (DLW) mode, the out-of-plane transverse wave, were obtained. The dispersion relation was determined to be an opticlike inverse dispersion when wave number k is lower than a critical value k(critical), and a positive dispersion when k>k(critical). The negative group velocity of the wave for kk(critical) depends on the propagation direction. The value of k(critical) depends on both kappa and propagation direction, but changes very little for all propagation directions and the range of kappa investigated. An analytical method has also been used to derive the dispersion relations assuming a hexagonal 2D lattice and Yukawa interparticle potential. These dispersion relations compare favorably with the simulation results. The dispersion relation for a 1D string was also obtained via BOX_TREE simulation and shown to agree with the analytical result given by Vladimirov [Physica A 315, 222 (2002)]. Comparison shows that the out-of-plane transverse DLW in a 2D lattice when k