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Objective@#To study the mutational characteristics of KCNT1 and its clinical features in children with early-onset epileptic encephalopathy.@*Methods@#Retrospective analysis of clinical data of 175 children with early onset epilepsy from the Department of Pediatrics at Peking University First Hospital from January 2012 to December 2017. Gene-based analysis was performed on children with targeted capture second-generation sequencing and the source of mutations was verified by PCR-Sanger. The clinical features of children with KCNT1 mutation were summarized.@*Results@#In 175 infants with early-onset epileptic encephalopathy, 6 children were found to have KCNT1 mutations, all of which were new mutations with an overall mutation rate of 3.4% (6/175). All the mutations were missense mutations. The age of onset was from 2 days to 32 days. Five children were diagnosed with epilepsy of infancy with migrating focal seizure, one case was diagnosed with epilepsy, focal seizures, focal seizures with generalization. A total of 6 children were treated with multi-antiepileptic drugs. The disease in 4 patients were partially controlled, while in 2 patients, the disease was not significantly alleviated. One patient died of "severe pneumonia" at one year and 4 months of age. Then, four cases were treated with quinidine. The seizure frequency had no change in 3 cases, the frequency decreased and then relapsed in 1 case. The case once ketogenic diet and failed. Ketogenic diet treatment was applied to 5 cases, no significant effect was achieved. All the 6 patients had severe developmental delay. They could not sit alone, follow the light and objects and had no language.@*Conclusions@#The mutation of KCNT1 gene is mainly de novo. The onset of the disease was early, and mostly occurs in neonate and early infancy. The main seizure type was epilepsy of infancy with migrating focal seizure. Patients usually had severe psychomotor developmental delay. Antiepileptic drugs are ineffective. The efficacy of quinidine was not significant. Though, it still need studies on a large sample.
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<p><b>OBJECTIVE</b>To delineate the clinical and genetic characteristics of patients with Allan-Herndon-Dudley syndrome (AHDS).</p><p><b>METHODS</b>Genetic testing was carried out by next generation sequencing on 117 patients featuring intellectual disability and developmental delay. Clinical information including clinical manifestation, brain magnetic resonance imaging(MRI）, thyroid hormone levels, and electrocardiogram was collected for those with SLC16A2 mutations.</p><p><b>RESULTS</b>Five male patients with SLC16A2 gene mutations were identified, including 2 affected brothers and 3 sporadic cases. The ages of the patients ranged from 8 months to 8 years. All patients presented with severe intellectual disability and developmental delay including poor head control, inability to sit independently, no speech, and poor response to external stimuli. All patients presented with hypotonia, dystonia, and positive pyramidal signs. Three patients had sinus tachycardia. All patients had abnormal thyroid hormone levels with elevated free triiodothyronine (FT), decreased free tetraiodothyronine(FT), and normal thyroid stimulating hormone (TSH). Brain MRI on 3 patients showed delayed myelination. Among the 3 sporadic patients, 2 carried de novo mutations including c.61G to T(p.E21X) and c.695_699delATGGT(p.N232SfsX7), respectively, 1 carried a c.42delC(p.W15GfsX69)mutation, which was inherited from his heterozygous mother. A nonsense mutation (c.916C to T, p.Q306X) was discovered in the two brothers, for which their mother was heterozygous.</p><p><b>CONCLUSION</b>AHDS is characterized by severe psychomotor developmental delay as well as congenital hypotonia, dystonia and positive pyramidal signs. Affected males may present with distinctive thyroid hormone abnormalities including increased FT and low FT accompanied by normal TSH. Delayed meylination of white matter is common. It is an X-linked mental retardation caused by SLC16A2 gene mutations.</p>
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BACKGROUND:There is a great dispute on the choice of repair materials for ossicular chain damage. OBJECTIVE:To explore the effects of new hydroxyapatite-bone morphogenetic protein ossicular prosthesis versus al ogeneic cartilage ossicular prosthesis in patients with ossicular chain damage. METHODS:Sixty patients with chronic otitis media were equal y assigned into a control group and a test group. Two groups of patients underwent tympanoplasty and ossicular chain reconstruction with al ogeneic cartilage ossicular prosthesis or hydroxyapatite-bone morphogenetic protein ossicular prosthesis, respectively. Twelve months after surgery, fol ow-up results were compared between two groups. RESULTS AND CONCLUSION:Air conduction value and air-bone gap value were both improved significantly in the two groups after surgery (P Subject headings:Tympanoplasty;Otitis Media;Bone Morphogenetic Proteins;Tissue Engineering
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AIM:To explore the changes of plasma levels of soluble vascular endothelial growth factor receptor 2 ( sVEGFR2) and superoxide dismutase ( SOD) in hypertensive patients and hypertensive diabetic patients.METHODS:In this cross-sectional study, 88 cases were enrolled, which were divided into hypertensive group (n=31), hypertensive diabetic group ( n=31 ) and control group ( n=26 ) .Blood pressure was obtained from each participant with mercury sphygmomanometer.The levels of sVEGFR2 and SOD were measured by ELISA.Meanwhile, the levels of plasma glucose, glycosylated hemoglobin A1c ( GHbA1c) and lipid profile were detected.RESULTS:The levels of total cholesterol ( TC) and body mass index (BMI) were significantly higher in hypertensive group than those in control group (P<0.05).The levels of TC, low-density lipoprotein cholesterol ( LDL-C) , triglyceride ( TG) , BMI, waist circumference were significantly higher in hypertensive diabetic group than those in control group (P<0.05).The plasma levels of sVEGFR2 and SOD in both hypertensive diabetic group and hypertensive group were significantly decreased compared with control group ( P<0.05), while the mean plasma levels of sVEGFR2 and SOD in hypertensive diabetic group were significantly decreased compared to the hypertensive group ( P<0.05 ) .A significantly positive correlation between sVEGFR2 and SOD in the whole study population (P<0.05) was observed.CONCLUSION: The plasma level of sVEGFR2 is decreased in both hypertensive and hypertensive diabetic patients, and more significantly decreased in hypertensive diabetic patients.De-creased SOD level may be associated with to the reduction of sVEGFR2.
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AIM: To explore the effect of hydrogen sulfide on the senescence of human umbilical vein endothe -lial cells (HUVECs) induced by high glucose.METHODS: Senescence model was established by treating HUVECs with33 mmol/L glucose for 48 h.The parameters were detected to demonstrate the effect of hydrogen sulfide on senescence andthe mechanism involved was also investigated .RESULTS: In the cells treated with high glucose, the proliferation was attenuatedwith a higher number of senescence -associated β-galactosidase (SA-β-Gal) positive cells, and plasminogen activatorinhibitor 1 (PAI-1) protein expression, malondialdehyde (MDA) production and NF-κB p65 activity were increasedsignificantly, but the expression of superoxide dismutase 1 (SOD1) was decreased.However, the cell number and SOD1expression were increased, and the number of SA-β-Gal positive cells, PAI-1 protein expression, MDA production and theactivity of NF-κB p65 were decreased after sodium hydrosulfide (100 and 200 μmol/L) treatment.CONCLUSION: Exogenoushydrogen sulfide prevents HUVECs against high glucose -induced senescence by suppressing oxidative stress and NF -κB p65 activity.