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Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.

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Chronic granulomatous disease (CGD) is a rare type of primary phagocytic immunodeficiency disease.CGD is caused by a defective gene that encodes the components of reduced nicotinamide adenine dinucleotide phosphate (NADPH) in phagocytes.Due to genetic mutations causing phagocytic respiratory dysfunction,phagocytic cells are not effective in killing peroxidase-positive bacteria and fungi,and clinical manifestations are characterized by repeated severe bacterial,fungal infections and granuloma formation.The current clinical treatments include routine therapy and hematopoietic stem cell transplantation (HSCT).With the research development of CGD in genetics,molecular biology and vector science,clinical research on gene therapy of the disease has been carried out,in which CRISPR/Cas9 system has a good application prospect in gene therapy for genetic diseases.This article reviews the progress of gene therapy.

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Objective:To evaluate the efficacy,recurrent risk factors and transferable ratio of treatments with 3 different regiments on children with systematic myasthenia gravis (MG).Methods:The data of 104 children with ocular MG from June 2010 to March 2014 were collected from Department of Pediatric Neurology of Xiangya Hospital and they were retrospectively studied.The patients were divided into 3 groups:a methylprednisolone group (n=44),a prednisone group (n=48) and a bromine pyridostigmine group (n=12).Evaluative system from American MG foundation was used to evaluate the efficacy of treatment and the ratio of ocular MG transformed into systematic MG.Results:The efficacy in the methylprednisolone group was better than that in the prednisone group,and both of them were better than that in the bromine pyridostigmine group (both P＜0.05).Methylprednisolone,prednisone combined with bromine pyridostigmine could reach a better long-term efficacy in children with ocular MG.Early treatment with glucocorticoid could reduce clinical relapse.Conclusion:A treatment with high-dose methylprednisolone pulse can improve early clinical remission in children with ocular MG.However,there is a similar efficacy in the long run of different glucocorticoid therapeutic regiments.A relatively order onset age,infection and thyroid dysfunction are recurrent risk factors in children with ocular MG.

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Gitelman syndrome is a rare disease.It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms.A girl with long-term hypokalemia,who presented with intermittent pain of lower limb muscle and physical retardation,was treated in Xiangya Hospital,Central South University.Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis.Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome.Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis.Gene therapy is expected to be the most effective treatment for this disease.

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Objective To discuss the clinical features and prognosis of patients with childhood alternating hemiplegia (AHC).Methods The clinical presentation and follow up data of 9 patients diagnosed as AHC in our hospital from January 2010 and June 2014.Results Onset appeared within 18 months of born in these 9 patients;no migraine family history, repeated and alternated limbs dyskinesia, varying degrees of delayed psychomotor development, and with/without abnormal eye movements were noted in these patients.No specific auxiliary examination results were noted.All the patients were treated in our hospital with flunarizine (2.5-5 mg per time for one time every night), and among them, one also treated with topiramate.Two patients were lost to follow-up.One patient had fluctuated condition after taking drugs: the frequency of attack declined one month after drug taking, but then, rebounded gradually.One had frequency of attack declining to three times a month from four times a month.Two added the dose offlunarizine to 10 mg, leading to the obvious decline of both frequency and duration.Three had no release.Conclusion It is hoped to improve patients' life quality and prognosis by recognizing AHC early, insistting long-term pharmacotherapy and avoiding the inducing factors.

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<p><b>BACKGROUND</b>Suppression of myostatin (MSTN) has been associated with skeletal muscle atrophy and insulin resistance (IR). However, few studies link MSTN suppression by ladder-climbing training (LCT) and IR. Therefore, we intended to identify the correlation with IR between LCT and to analyze the signaling pathways through which MSTN suppression by LCT regulates IR.</p><p><b>METHODS</b>The rats were randomly assigned to two types of diet: normal pellet diet (NPD, n = 8) and high-fat diet (HFD, n = 16). After 8 weeks, the HFD rats were randomly re-assigned to two groups (n = 8 for each group): HFD sedentary (HFD-S) and high-fat diet ladder-climbing training (HFD-LCT). HFD-LCT rats were assigned to LCT for 8 weeks. Western blotting, immunohistochemistry and enzyme assays were used to measure expression levels and activities of MSTN, GLUT4, PI3K, Akt and Akt-activated targets (mTOR, FoxO1 and GSK-3β).</p><p><b>RESULTS</b>The LCT significantly improved IR and whole-body insulin sensitivity in HDF-fed rats. MSTN protein levels decreased in matching serum (42%, P = 0.007) and muscle samples (25%, P = 0.035) and its receptor mRNA expression also decreased (16%, P = 0.041) from obese rats after LCT. But the mRNA expression of insulin receptor had no obvious changes in LCT group compared with NPD and HFD-S groups (P = 0.074). The ladder-climbing training significantly enhanced PI3K activity (1.7-fold, P = 0.024) and Akt phosphorylation (83.3%, P = 0.022) in HFD-fed rats, significantly increased GLUT4 protein expression (84.5%, P = 0.036), enhanced phosphorylation of mTOR (4.8-fold, P < 0.001) and inhibited phosphorylation of FoxO1 (57.7%, P = 0.020), but did not affect the phosphorylation of GSK-3β.</p><p><b>CONCLUSIONS</b>The LCT significantly reduced IR in diet-induced obese rats. MSTN may play an important role in regulating IR and fat accumulation by LCT via PI3K/Akt/mTOR and PI3K/Akt/FoxO1 signaling pathway in HFD-fed rats.</p>

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