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1.
World J Clin Cases ; 12(12): 2099-2108, 2024 Apr 26.
Article in English | MEDLINE | ID: mdl-38680271

ABSTRACT

BACKGROUND: The clinical incidence of spinal infection is gradually increasing, and its onset is insidious, easily leading to missed diagnosis and misdiagnosis, which may lead to serious complications such as nervous system dysfunction, spinal instability and/or deformity, and cause a huge burden on society and families. Early identification of the causative agent and precision medicine will greatly reduce the suffering of patients. At present, the main pathogenic bacteria that cause spinal infection are Staphylococcus aureus, Streptococcus, Pneumococcus, Escherichia coli, and Klebsiella. There are no reports of spinal infection caused by Pseudomonas fluorescens. CASE SUMMARY: We report a 32-year-old female patient with spinal infection. She presented with flank pain, initially thought to be bone metastases or bone tuberculosis, and had a family background of tumors. Her clinical features and changes in imaging and laboratory tests led to the suspicion of thoracic spine infection. Histopathology of the lesion showed inflammation, tissue culture of the lesion was negative several times, and the possible pathogen - Pseudomonas fluorescens was found after gene sequencing of the lesion. The patient recovered completely after a full course of antibiotic treatment. CONCLUSION: This report increases the range of pathogens involved in spinal infections, highlights the unique advantages of gene sequencing technology in difficult-to-diagnose diseases, and validates conservative treatment with a full course of antibiotics for spinal infections without complications.

2.
World J Clin Cases ; 12(4): 782-786, 2024 Feb 06.
Article in English | MEDLINE | ID: mdl-38322676

ABSTRACT

BACKGROUND: Venovenous extracorporeal membrane oxygenation (V-V ECMO) has become an important treatment for severe pneumonia, but there are various complications during the treatment. This article describes a case with severe pneumonia successfully treated by V-V ECMO, but during treatment, the retrovenous catheter, which was supposed to be in the right internal vein, entered the superior vena cava directly in the mediastinum. The ECMO was safely withdrawn after multidisciplinary consultation. Our experience with this case is expected to provide a reference for colleagues who will encounter similar situations. CASE SUMMARY: A 64-year-old man had severe pulmonary infection and respiratory failure. He was admitted to our hospital and was given ventilation support (fraction of inspired oxygen 100%). The respiratory failure was not improved and he was treated by V-V ECMO, during which the venous return catheter, which was supposed to be in the right internal vein, entered the superior vena cava directly in the mediastinum. There was a risk of massive mediastinal bleeding if the catheter was removed directly when the ECMO was withdrawn. Finally, the patient underwent vena cava angiography + balloon attachment + ECMO withdrawal in the operating room (prepared for conversion to thoracotomy for vascular exploration and repair at any time during surgery) after multidisciplinary consultation. ECMO was safely withdrawn, and the patient recovered and was discharged. CONCLUSION: Patients may have different vascular conditions. Multidisciplinary cooperation can ensure patient safety. Our experience will provide a reference for similar cases.

3.
Cancer Gene Ther ; 31(3): 454-463, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38135697

ABSTRACT

Nasopharyngeal carcinoma (NPC) originates in the epithelial cells of the nasopharynx and is a common malignant tumor in southern China and Southeast Asia. Metastasis of NPC remains the main cause of death for NPC patients even though the tumor is sensitive to radiotherapy and chemotherapy. Here, we found that the transmembrane protein tetraspanin1 (TSPAN1) potently inhibited the in vitro migration and invasion, as well as, the in vivo metastasis of NPC cells via interacting with the IKBB protein. In addition, TSPAN1 was essential in preventing the overactivation of the NF-kB pathway in TSPAN1 overexpressing NPC cells. Furthermore, reduced TSPAN1 expression was associated with NPC metastasis and the poor prognosis of NPC patients. These results uncovered the suppressive role of TSPAN1 against NF-kB signaling in NPC cells for preventing NPC metastasis. Its therapeutic value warrants further investigation.


Subject(s)
Carcinoma , Nasopharyngeal Neoplasms , Humans , Nasopharyngeal Carcinoma/pathology , NF-kappa B/genetics , NF-kappa B/metabolism , Nasopharyngeal Neoplasms/metabolism , Cell Line, Tumor , Signal Transduction , Cell Movement/genetics , Gene Expression Regulation, Neoplastic , Tetraspanins/genetics , Tetraspanins/metabolism
4.
Drug Dev Res ; 84(7): 1468-1481, 2023 11.
Article in English | MEDLINE | ID: mdl-37534761

ABSTRACT

Distant metastasis is the primary reason for treatment failure in patients with nasopharyngeal carcinoma (NPC). In this study, we investigated the effect of ulinastatin (UTI) on NPC metastasis and its underlying mechanism. Highly-metastatic NPC cell lines S18 and 58F were treated with UTI and the effect on cell proliferation, migration, and invasion were determined by MTS and Transwell assays. S18 cells with luciferase-expressing (S18-1C3) were injected into the left hind footpad of nude mice to establish a model of spontaneous metastasis from the footpad to popliteal lymph node (LN). The luciferase messenger RNA (mRNA) was measured by quantitative polymerase chain reaction (qPCR), and the metastasis inhibition rate was calculated. Key molecular members of the UTI-related uPA, uPAR, and JAT/STAT3 signaling pathways were detected by qPCR and immunoblotting. UTI suppressed the migration and infiltration of S18 and 5-8F cells and suppressed the metastasis of S18 cells in vivo without affecting cell proliferation. uPAR expression decreased from 24 to 48 h after UTI treatment. The antimetastatic effect of UTI is partly due to the suppression of uPA and uPAR. UTI partially suppresses NPC metastasis by downregulating the expression of uPA and uPAR.


Subject(s)
Nasopharyngeal Neoplasms , Animals , Mice , Humans , Nasopharyngeal Carcinoma/drug therapy , Nasopharyngeal Carcinoma/metabolism , Nasopharyngeal Carcinoma/pathology , Mice, Nude , Cell Line, Tumor , Nasopharyngeal Neoplasms/drug therapy , Nasopharyngeal Neoplasms/pathology , Luciferases , Cell Movement , Neoplasm Invasiveness , Neoplasm Metastasis
5.
Biochim Biophys Acta Mol Basis Dis ; 1869(5): 166696, 2023 06.
Article in English | MEDLINE | ID: mdl-36963524

ABSTRACT

BACKGROUND: Metastasis is one of the main obstacles impeding the survival of nasopharyngeal carcinoma (NPC) patients, with the molecular mechanism underlying NPC metastasis still unclear. RESULTS: In this study, Cystatin A (CSTA) was found downregulated in NPC tissues with metastasis compared with those without metastasis. Shorter overall survival and distant metastasis-free survival were found in NPC patients with lower CSTA expression. Using functional assays, we found that CSTA prevented both the in vitro motility of NPC cells and their ability to metastasize in vivo. Transcriptome sequencing and western blot analysis revealed that CSTA inhibited the phosphorylation of AKT. Moreover, activating AKT using AKT agonist SG79 rescued the motility of CSTA-overexpressing NPC cells, whereas, treatment with AKT inhibitor MK2206 inhibited the motility of CSTA-knockdown NPC cells. Mechanically, immunoprecipitation coupled mass spectrometry found that CSTA interacted with the N6-adenosine-methyltransferase subunit METTL3 and promoted its ubiquitin-proteasome-mediated degradation following the upregulation of NKX3-1 and LHPP, which are negative regulators of AKT. Furthermore, knock-down of NKX3-1 and LHPP enhanced the motility of CSTA-overexpressing NPC cells. CONCLUSIONS: The inhibitory effect of CSTA upon NPC metastasis mainly depended on suppressing AKT signaling by the upregulation of NKX3-1 and LHPP expression resulting from the binding between CSTA and METLL3. Our study suggests that the CSTA-METLL3-NKX3-1/LHPP-AKT axis could be of therapeutic value for inhibiting NPC metastasis.


Subject(s)
Carcinoma , Nasopharyngeal Neoplasms , Humans , Carcinoma/pathology , Cystatin A , Epithelial-Mesenchymal Transition , Methyltransferases , Nasopharyngeal Carcinoma/genetics , Nasopharyngeal Neoplasms/genetics , Nasopharyngeal Neoplasms/metabolism , Nasopharyngeal Neoplasms/pathology , Proto-Oncogene Proteins c-akt/metabolism
7.
Cancer Lett ; 498: 165-177, 2021 02 01.
Article in English | MEDLINE | ID: mdl-33152401

ABSTRACT

Nasopharyngeal carcinoma (NPC) originates in the nasopharyngeal epithelium and has the highest metastatic rate among head and neck cancers. Distant metastasis is the main reason for treatment failure with the underlying mechanisms remaining unclear. By comparing the expression profiling of NPCs versus non-cancerous nasopharyngeal tissues, we found LACTB was highly expressed in the tumor tissues. We found that elevated expression of the LACTB protein in primary NPCs correlated with poorer patient survival. LACTB is known to be a serine protease and a ubiquitous mitochondrial protein localized in the intermembrane space. Its role in tumor biology remains controversial. We found that the different methylation pattern of LACTB promoter led to its differential expression in NPC cells. Overexpressing LACTB in NPC cells promoted their motility in vitro and metastasis in vivo. While knocking down LACTB reduced the metastasis capability of NPC cells. However, LACTB did not influence cellular proliferation. We further found the role of LACTB in promoting NPC metastasis depended on the activation of ERBB3/EGFR-ERK signaling, which in turn, affected the stability and the following acetylation of histone H3. These findings may shed light on unveiling the mechanisms of NPC metastasis.


Subject(s)
MAP Kinase Signaling System/genetics , Membrane Proteins/genetics , Mitochondrial Proteins/genetics , Nasopharyngeal Carcinoma/genetics , Nasopharyngeal Neoplasms/genetics , Neoplasm Metastasis/genetics , Receptor, ErbB-3/genetics , Signal Transduction/genetics , beta-Lactamases/genetics , Animals , Cell Line, Tumor , Cell Movement/genetics , Cell Proliferation/genetics , ErbB Receptors/genetics , Female , Humans , Mice , Mice, Nude , Nasopharyngeal Carcinoma/pathology , Nasopharyngeal Neoplasms/pathology , Neoplasm Metastasis/pathology , Promoter Regions, Genetic/genetics
8.
Eur J Vasc Endovasc Surg ; 60(6): 916-924, 2020 12.
Article in English | MEDLINE | ID: mdl-33004280

ABSTRACT

OBJECTIVE: Thoracic aortic dissection (TAD) is associated with matrix changes, biochemical changes, and inflammatory markers like interleukin-1 beta (IL-1ß). However, the exact mechanism remains unknown. This study aimed to investigate the role of IL-1ß, matrix metalloproteinase (MMP)-2, MMP-9, smooth muscle cell apoptosis, and elastic fibre fracture in the development of TAD in a rat model. METHODS: The TAD rat model was induced by ß-aminopropionitrile (BAPN). TAD was investigated in 112 male Sprague-Dawley rats, which were equally divided into four groups of 28 rats (Control, BAPN, BAPN + IL-1ß, and BAPN + IL-1ß antibody). Systolic blood pressure, survival, and the development of TAD were measured after six weeks. Expression of IL-1ß, MMP-2, and MMP-9 was measured by Western blot. Apoptosis, aortic elastin concentration, and biomechanical characteristics were measured by the TdT mediated dUTP nick end labelling assay, Victoria blue staining, and in vitro testing. RESULTS: During six weeks, the mortality was 0% (0/28) in the control group, 53.6% (15/28) in the BAPN group (p < .001 compared with the control group), 75.0% (21/28) in the BAPN + IL-1ß group (p = .007 compared with the BAPN group), and 35.7% (10/28) in the BAPN + IL-1ß antibody group (p = .023 compared with BAPN group and p < .001 compared with the BAPN + IL-1ß group). IL-1ß treatment deteriorates BAPN induced mortality and aneurysm expansion, which were attenuated by anti-IL-1ß treatment. In BAPN + IL-1ß group, stress and strain parameters were decreased by 13.5%-53.5% and elastin content was decreased by 14%, and IL-1ß, MMP-2, and MMP-9 were expressed higher by 117%, 108%, and 75% when compared with the rats in the BAPN group. Contrarily, in the BAPN + IL-1ß antibody group, the above changes could be completely (strain, elastin content, and expression of MMP-2) or partly (elasticity modulus, stress, and expression of MMP-9) blocked by anti-IL-1ß treatment. CONCLUSION: IL-1ß plays a critical role in TAD formation by altering the expression of MMP-2 and MMP-9, degrading the aortic wall matrix, causing elastic fibre rupture, and changing the stress or strain of the aortic wall. Anti-IL-1ß reduces the later effects and could be one of the molecular targets for prognosis and drug treatment of TAD in the future.


Subject(s)
Aortic Aneurysm, Thoracic/metabolism , Aortic Dissection/metabolism , Interleukin-1beta/metabolism , Aminopropionitrile , Aortic Dissection/chemically induced , Aortic Dissection/pathology , Animals , Antibodies/pharmacology , Aorta, Thoracic/pathology , Aortic Aneurysm, Thoracic/chemically induced , Aortic Aneurysm, Thoracic/pathology , Apoptosis , Disease Models, Animal , Elastin/metabolism , Interleukin-1beta/antagonists & inhibitors , Interleukin-1beta/immunology , Male , Matrix Metalloproteinase 2/metabolism , Matrix Metalloproteinase 9/metabolism , Rats , Rats, Sprague-Dawley , Survival Rate
9.
ACS Med Chem Lett ; 11(9): 1745-1750, 2020 Sep 10.
Article in English | MEDLINE | ID: mdl-32944142

ABSTRACT

Neuraminidase (NA) is an important target for current research on anti-influenza drugs. The acylhydrazone derivatives containing the -CONHN=CH- framework have been shown to have good NA inhibitory activity. In this paper, a series of novel acylhydrazone NA inhibitors (9a-9n) were designed and synthesized, and the inhibitory activities against NA were evaluated in vitro. The NA inhibition results showed that compound 9j has the most potent inhibitory activity (IC50 = 0.6 µM) against NA, which is significantly lower than that of the positive control oseltamivir carboxylic acid (OSC) (IC50 = 17.00 µM). Molecular docking analysis indicates that the acylhydrazone group plays an important role in compound 9j, which can bind well to the residues Arg371 and Arg292 in the S1 subsite of NA. The good potency of 9j may be also ascribed to the extending of morpholinyl ring into the 430-cavity. The results of this work may contribute to the development of more potent NA inhibitors to against mutant influenza viruses.

10.
Int J Endocrinol ; 2020: 5401738, 2020.
Article in English | MEDLINE | ID: mdl-32733554

ABSTRACT

Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency. Scattered familial cases have been found, revealing some genetic variants. However, most of the previous research studies involved an affected sibling, and the gene spectra of the patients' entire family have rarely been reported. We conducted a study of a family consisting of a PSIS patient with his unaffected sibling and healthy parents of Han Chinese background using whole-genome sequencing. Bioinformatic analysis was carried out, and mutations related to PSIS, single-nucleotide variants (SNVs), insertion-deletion (InDELs), and structural variations (SVs) in all the four samples were filtered. After Sanger sequencing, we confirmed the variants obtained and selected three candidate genes for functional verification. The gene variations in this boy with PSIS and his lineal relatives are reported herein; de novo sequencing revealed that the NBPF9 gene may be involved in the pathogenesis of PSIS.

11.
Zhongguo Zhen Jiu ; 40(6): 623-8, 2020 Jun 12.
Article in Chinese | MEDLINE | ID: mdl-32538014

ABSTRACT

OBJECTIVE: To explore the clinical therapeutic effect of light and heat of moxibustion for knee osteoarthritis (KOA). METHODS: A total of 216 patients with KOA were randomized into a traditional moxibustion group (72 cases, 8 cases dropped off), a moxibustion light group (72 cases, 9 cases dropped off) and a moxibustion heat group (72 cases, 10 cases dropped off).The special light-heat separation moxibustion cup was applied, the patients in the traditional moxibustion group received the treatment of moxibustion, the patients in the moxibustion light group received the treatment of moxibustion light and the patients in the moxibustion heat group received the treatment of moxibustion heat. The acupoint selection of the three groups was Neixiyan (EX-LE 4), Dubi (ST 35) and Zusanli (ST 36), the treatment was given 20 min each time, 3 times a week, 4 weeks were required totally, and the follow-up surveys were made 4 and 8 weeks after treatment. The scores of Western Ontario and McMaster University osteoarthritis index (WOMAC) and visual analogue scale (VAS) were observed before treatment, after 2 and 4 weeks of treatment, 4 and 8 weeks after treatment. The therapeutic effects were evaluated according to the criterion of patient global assessment (PGA) after 4 weeks of treatment and 8 weeks after treatment. RESULTS: Compared with before treatment, the pain scores, stiffness scores, physical function scores and total scores of WOMAC were reduced after 2, 4 weeks of treatment and 4 weeks after treatment in the three groups (P<0.05). The pain scores, stiffness scores, physical function scores and total scores of WOMAC were reduced 8 weeks after treatment in the traditional moxibustion group and the moxibustion heat group (P<0.05). The stiffness score, physical function score and total score of WOMAC were reduced 8 weeks after treatment in the moxibustion light group (P<0.05). The pain score, physical function score and total score of WOMAC in the traditional moxibustion group after 4 weeks of treatment were lower than the moxibustion light group (P<0.05). Compared with before treatment, the VAS scores were reduced after 2, 4 weeks of treatment and 4 , 8 weeks after treatment in the three groups (P<0.05). The improvement rates in the traditional moxibustion group and the moxibustion heat group after 4 weeks of treatment and 8 weeks after treatment were superior to the moxibustion light group (P<0.05). CONCLUSION: The light and heat of moxibustion have therapeutic effect for KOA, and the therapeutic effect of moxibustion heat is superior to moxibustion light.


Subject(s)
Hot Temperature , Light , Moxibustion , Osteoarthritis, Knee/therapy , Acupuncture Points , Humans , Treatment Outcome
12.
Oncogene ; 39(30): 5307-5322, 2020 07.
Article in English | MEDLINE | ID: mdl-32555330

ABSTRACT

Nasopharyngeal carcinoma (NPC) is a unique head and neck cancer with highly aggressive and metastatic potential in which distant metastasis is the main reason for treatment failure. Till present, the underlying molecular mechanisms of NPC metastasis remains poorly understood. Here, we identified S100 calcium-binding protein A14 (S100A14) as a functional regulator suppressing NPC metastasis by inhibiting the NF-kB signaling pathway and reversing the epithelial-mesenchymal transition (EMT). S100A14 was found to be downregulated in highly metastatic NPC cells and tissues. Immunohistochemical staining of 202 NPC samples revealed that lower S100A14 expression was significantly correlated with shorter patient overall survival (OS) and distant metastasis-free survival (DMFS). S100A14 was also found as an independent prognostic factor for favorable survival. Gain- and loss-of-function studies confirmed that S100A14 suppressed the in vitro and in vivo motility of NPC cells. Mechanistically, S100A14 promoted the ubiquitin-proteasome-mediated degradation of interleukin-1 receptor-associated kinase 1 (IRAK1) to suppress NPC cellular migration. Moreover, S100A14 and IRAK1 established a feedback loop that could be disrupted by the IRAK1 inhibitor T2457. Overall, our findings showed that the S100A14-IRAK1 feedback loop could be a promising therapeutic target for NPC metastasis.


Subject(s)
Calcium-Binding Proteins/genetics , Interleukin-1 Receptor-Associated Kinases/genetics , Lung Neoplasms/genetics , NF-kappa B/genetics , Nasopharyngeal Carcinoma/genetics , Nasopharyngeal Neoplasms/genetics , Animals , Calcium-Binding Proteins/metabolism , Cell Line, Tumor , Cell Movement/genetics , Epithelial-Mesenchymal Transition/genetics , Feedback, Physiological , Gene Expression Regulation, Neoplastic , Heterografts , Humans , Interleukin-1 Receptor-Associated Kinases/metabolism , Lung Neoplasms/metabolism , Lung Neoplasms/secondary , Mice, Nude , NF-kappa B/metabolism , Nasopharyngeal Carcinoma/metabolism , Nasopharyngeal Carcinoma/pathology , Nasopharyngeal Neoplasms/metabolism , Nasopharyngeal Neoplasms/pathology , Proteasome Endopeptidase Complex/metabolism , RNA Interference , Signal Transduction/genetics , Survival Analysis
13.
Biochem Biophys Res Commun ; 527(3): 770-777, 2020 06 30.
Article in English | MEDLINE | ID: mdl-32446561

ABSTRACT

Nasopharyngeal carcinoma (NPC) is relatively sensitive to ionizing radiation, and radiotherapy is the main treatment modality for non-metastatic NPC. Radiation therapy generates overproduction of reactive oxygen species (ROS), which can cause DNA damage and induce apoptosis in tumors, thereby killing the malignant cells. Although dietary antioxidant supplementation reduces oxidative stress and promotes tumor progression, the effects of antioxidants on the NPC cells upon radiation have not been reported. In the present study, we showed that antioxidants (ß-Carotene, NAC, GSH) played an anti-apoptotic role in response to radiation via decreasing ROS production and inhibiting MAPK pathway in NPC cells. Based on that, we conclude that the use of supplemental antioxidants during radiotherapy should be avoided because of the possibility of tumor protection and reduced treatment efficacy.


Subject(s)
Antioxidants/pharmacology , Apoptosis/drug effects , Apoptosis/radiation effects , MAP Kinase Signaling System/drug effects , Nasopharyngeal Carcinoma/radiotherapy , Nasopharyngeal Neoplasms/radiotherapy , Cell Line, Tumor , Humans , Nasopharyngeal Carcinoma/drug therapy , Nasopharyngeal Carcinoma/metabolism , Nasopharyngeal Neoplasms/drug therapy , Nasopharyngeal Neoplasms/metabolism , Reactive Oxygen Species/metabolism
14.
Neurogenetics ; 21(2): 79-86, 2020 04.
Article in English | MEDLINE | ID: mdl-31832804

ABSTRACT

Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new causative and disease-associated genes have been identified for CMT2 in recent years, molecular diagnoses are still lacking for a majority of patients. We here studied a cohort of 35 CMT2 patients of Chinese descent, using whole exome sequencing to investigate gene mutations and then explored relationships among genotypes, clinical features, and mitochondrial DNA levels in blood as assessed by droplet digital PCR. We identified pathogenic variants in 57% of CMT2 patients. The most common genetic causes in the cohort were MFN2 mutations. Two patients with typical CMT phenotype and neuromyotonia were detected to harbor compound heterozygous variations in the HINT1 gene. In conclusion, our work supports that the molecular diagnostic rate of CMT2 patients can be increased via whole exome sequencing, and our data suggest that assessment of possible HINT1 mutations should be undertaken for CMT2 patients with neuromyotonia.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Mutation , Asian People/genetics , China , Female , GTP Phosphohydrolases/genetics , Genotype , Humans , Male , Mitochondrial Proteins/genetics , Nerve Tissue Proteins/genetics , Exome Sequencing
15.
Bioresour Technol ; 288: 121462, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31128542

ABSTRACT

The use of constructed wetlands in combination with microbial fuel cells (CW-MFC) to treat saline wastewater may enhance electricity production by increasing the ionic strength, reducing internal resistance and stimulating microbes to accelerate electron transfer. In this study, salinity did not significantly inhibit the removal of TP and COD, but TN and NH4+-N removal efficiencies during saline wastewater treatment (ST) were significantly lower than during non-saline wastewater treatment (NT). However, salinity significantly increased the power density (16.4 mW m-2 in ST and 3.9 mW m-2 in NT, a 4-fold enhancement) by increasing the electron transfer rate and reducing internal resistance (140.29â€¯Ω in ST and 415.21â€¯Ω in NT). The peptides in extracellular polymeric substances (EPS) acted as electron shuttles to promote the migration of electrons and protons in ST. From start-up to stable operation, though the microorganisms in ST were reduced in diversity relative to NT, the proportion of electrochemically active bacteria (EAB), such as Ochrobactrum, significantly increased (p < 0.05) and gradually predominated in the microbial community.


Subject(s)
Bioelectric Energy Sources , Electricity , Electrodes , Wastewater , Wetlands
16.
Neuro Endocrinol Lett ; 40(7-8): 299-304, 2019 Dec.
Article in English | MEDLINE | ID: mdl-32304364

ABSTRACT

OBJECTIVE: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease which results in hypopituitarism. Patients with PSIS often exhibit short stature due to their deficiency of growth hormone (GH). CASE PRESENTATION: Here, we present two rare cases of adults males with PSIS, in which the patients were of normal height and did not take any GH supplements. Sterility and multiple hormone deficiencies including GH were seen in both of them. Through whole exome sequencing of their DNA, we found novel mutations they shared, three in MUC4 (c.7815G>T, c.3548C>T, c.3399C>G) and one in NBPF10 (c.536C>A). CONCLUSION: The present cases suggest that there are exceptions in GH deficient patients where a select few can attain normal heights without GH therapy. Genetic screening can be a predictor for prognoses of rare types of hypopituitarism.


Subject(s)
Body Height/physiology , Growth Disorders/metabolism , Hypogonadism/metabolism , Hypopituitarism/metabolism , Pituitary Gland/abnormalities , Adolescent , Adult , Growth Disorders/physiopathology , Humans , Hypogonadism/drug therapy , Hypogonadism/physiopathology , Hypopituitarism/drug therapy , Hypopituitarism/physiopathology , Hypothyroidism/drug therapy , Hypothyroidism/metabolism , Magnetic Resonance Imaging , Male , Mucin-4/genetics , Pituitary Gland/diagnostic imaging
17.
Interact Cardiovasc Thorac Surg ; 28(3): 344-352, 2019 03 01.
Article in English | MEDLINE | ID: mdl-30169834

ABSTRACT

OBJECTIVES: Our goal was to examine whether interleukin-1 beta (IL-1ß) originates locally and its possible relationship with matrix metalloproteinases (MMPs), apoptosis, elastin fibres and biomechanics in aortic dissecting aneurysms (DAs). METHODS: Aortic DAs were induced in 24 rats with ß-aminopropionitrile (BAPN); another 12 rats without BAPN were designated as controls. Then IL-1ß levels were measured both in the circulation and in local aortic specimens. The expression of MMP-2 and MMP-9 and Victoria blue and TUNEL staining were also detected. Biomechanical parameters such as the elasticity modulus were used to detect the biomechanical changes in the aortic wall. The correlation of IL-1ß, MMP-2, MMP-9, apoptosis and biomechanical properties was analysed. RESULTS: Seventeen rats (17/24, 71%) in the BAPN-treated group died of DA rupture. IL-1ß levels were dramatically increased in the DA specimens but not in the circulation. Victoria blue staining confirmed the formation of the DA and the reduction of elastin content after induction by BAPN. The extent of apoptosis in the aortic media was dramatically higher in rats with BAPN-induced DA than that in the control group and that in rats treated with BAPN but without DA. MMP-2 and MMP-9 levels were significantly increased in BAPN-treated rats compared to the controls, but no statistical significance was found between rats with and without DA. There were significant differences in biomechanical parameters, such as the elasticity modulus. Among the 3 groups, IL-1ß was positively correlated with MMP-2 and MMP-9 levels and with the elasticity modulus but not with apoptosis. CONCLUSIONS: Local IL-1ß might participate in the formation of aortic DA through the upregulation of MMP-2 and MMP-9 and the breakage of elastin fibres, which finally weakens the biomechanical properties of the aortic wall.


Subject(s)
Aorta, Thoracic/metabolism , Aortic Aneurysm, Thoracic/metabolism , Aortic Dissection/metabolism , Interleukin-1beta/biosynthesis , Matrix Metalloproteinase 2/biosynthesis , Matrix Metalloproteinase 9/biosynthesis , Up-Regulation , Aortic Dissection/pathology , Aortic Dissection/physiopathology , Animals , Aorta, Thoracic/pathology , Aorta, Thoracic/physiopathology , Aortic Aneurysm, Thoracic/pathology , Aortic Aneurysm, Thoracic/physiopathology , Apoptosis , Biomechanical Phenomena , Blotting, Western , Disease Models, Animal , Immunohistochemistry , Male , Rats , Rats, Sprague-Dawley
18.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 25(5): 1544-1549, 2017 Oct.
Article in Chinese | MEDLINE | ID: mdl-29070141

ABSTRACT

OBJECTIVE: To study the therapeutic effect of rhSCF early administration on rhesus monkeys with severe acute radiation sickness(ARS). METHODS: Twelve adult monkeys totally exposed to 7.0 Gy 60Co were divided into radiation control and SCF groups, and monkeys in SCF group were subcutaneously injected recombinant human SCF(rhSCF) 200 µg/kg at half an hour and 24 hour after irradiation, while the radiation control monkeys were injected physiological saline. Survival was monitored and hematopoiesis was evaluated at 40 days following early treatment. RESULTS: 6 animals treated with rhSCF all survived, while 2 in irradiated controls survived on 40 day after radiation. rhSCF treatment promoted hematopoiesis recovery significantly, increased the nadir of white blood cells, neutrophils and platelets, and simplified supportive care in ARS rhesus monkeys. CONCLUSION: RhSCF injection soon after TBI taken shows an significant therapeutic efficiency on rhesus monkeys with severe acute radiation sickness.


Subject(s)
Radiation Injuries/therapy , Recombinant Proteins/therapeutic use , Stem Cell Factor/therapeutic use , Animals , Hematopoiesis , Humans , Macaca mulatta , Whole-Body Irradiation
19.
Int J Endocrinol ; 2016: 1896285, 2016.
Article in English | MEDLINE | ID: mdl-27190512

ABSTRACT

Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from -1.99 ± 1.91 (-6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to -1.47 ± 1.64 (-7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain.

20.
Guang Pu Xue Yu Guang Pu Fen Xi ; 36(12): 4063-6, 2016 Dec.
Article in Chinese | MEDLINE | ID: mdl-30256558

ABSTRACT

La(2)Zr(2)O(7) powder was prepared with combustion method with La(2)O(3), Zr(NO(3))(4) and glycine as raw materials. La(2)Zr(2)O(7) powders were characterized with ICP-AES, EDAX, XRD, IR and TG-DTA techniques, respectively. Effects of heat treatment temperature on the XRD spectra and IR spectra of La(2)Zr(2)O(7) powders were studied. The X-ray diffraction pattern of La(2)Zr(2)O(7) powder after heat treatment at 600 ℃ has one diffraction peak, and the diffraction peak is quite broad, therefore, the crystal structure of the La(2)Zr(2)O(7) powder is semi-crystal structure. With the increase of heat treatment temperature, diffraction peaks become gradually sharp and increase. The crystal structure of the La(2)Zr(2)O(7) powders after heat treatment in 750~800 ℃ are pyrochlore structure. Analysis results of IR spectra of La(2)Zr(2)O(7) powders after heat treatment in 650~750 ℃ show that the crystal structure of the La(2)Zr(2)O(7) powders after heat treatment at 750 ℃ is pyrochlore structure, and the analysis results of XRD and IR are the same. Analysis results of TG-DTG of La(2)Zr(2)O(7) powders show that the crystal structure of the La(2)Zr(2)O(7) powders are stability in 120~1 600 ℃.

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