Objective:To observe the effect of exogenous estrogen on the gene expression of genioglossus myosin heavy chain(MHC) gene expression in ovariectomized rats. Methods: 30 female Sprague-Dawley rats were assigned to three groups randomly: ovariectomized group (OVX), estrogen group(E_2)and sham-operated group (SO). All the rats were sacrificed at 30 days after injection, and the genioglossus was removed for analysis. The gene expression of MHCⅡa,MHCⅡx, MHCⅡb and ?-actin was examined by real-time quantitative RT-PCR (FQ-PCR). Results: Compared to the SO group, genioglossus MHCⅡb increased significantly in OVX group (P

Adult ; Female ; Humans ; Male ; Medical Staff, Hospital ; Middle Aged ; Occupational Diseases ; epidemiology ; Urticaria ; epidemiology ; Young Adult

Objective To evaluate the effect of nutritional intervention on neurological rehabilitation of the elderly stroke patients. Methods Forty elderly patients with sequelae of stroke were recruited and randomly divided into two groups (intervention group and control group). Nutritional intervention including patient and caregiver education and nutrient supplement was carried out for three months in intervention group in addition to the conventional pharmacotherapy and rehabilitative training, and only conventional pharmacotherapy and rehabilitative training were given to the patients of the control group. The nutritional status of both groups was examined monthly, and the infectious morbidity and neurological improvement in both groups were also monitored at the same time. Results There were significant differences between the intervention group and the control group with regard to the nutritional status as indicated by various parameters [albumin(39.65?6.11)g/L vs (37.48?6.57)g/L,hemoglobin(12.68?1.21)g/dl vs (11.72?1.81)g/dl,IgG(11.28?2.61)g/L vs (8.57?1.98)g/L,complement C3(0.84?0.11)g/L vs (0.62?0.09)g/L,BMI(25.26?3.81)vs (23.51? 3.73),all P

ObjectiveTo observe the effect of comprehensive therapy on forearm extensor myotenositis.Methods72 cases were divided into two groups: a control group of 36 cases who were given routine treatment,and an experiment group of 36 cases who were given thermotherapy,computerized medium-frequency electrotherapy,physiotherapy,and ADL instruction,etc.After two courses,a simple grading score(for forearms) was used to assess the effect.ResultsOf the control group,22 cases were cured,10 remarkably effective,4 effective;of the experiment,30 cured,4 remarkably effective,2 effective(u=2.04, P<0.05).The difference of average score for forearms before and after the treatment were(6.58±3.17) points for the control and(8.19±3.55) for the experiment(t=2.03,P<0.05).The average days of cure were(5.60±2.54) d for the experiment group,shorter than those for the control(7.00±2.27) d(t=2.05,P<0.05).ConclusionComprehensive therapy is effective on forearm extensor myotenositis.

Objective:To summarize the therapeutic effect of deep brain stimulation (DBS) for dystonia.Methods:Detailed clinical information and peripheral blood of children with dystonia at Peking University First Hospital from April 2017 to July 2020 were collected.The motor scores of Burke-Fahn-Marsden Dystonia Rating Scale were recorded of the dystonia before and after the treatment of DBS.Whole-exome sequencing was performed on children with dystonia.Then the effect of DBS was evaluated.Results:A total of 32 cases of patients with dystonia treated with DBS were enrolled, including 16 males and 16 females.Twelve cases were treated with globus pallidus internus DBS, and 20 cases were treated with subthalamic nucleus DBS.Twenty cases (62.5%) with pathogenic gene mutations were detected.Pathogenic variants in PANK2 (9 cases), KMT2B(3 cases), GNAO1 (2 cases), GCDH (2 cases), PINK1(1 case), NDUFAF6(1 case), DYT27(1 case) and ADCY5(1 case) were found.The follow-up period was 1 month to 3 years and 8 months.Only 1 case had local infection due to improper home care.The postoperative improvement was 5.66%-95.92%. Conclusions:All patients have a certain degree of relief after DBS without obvious adverse reactions.DBS is an effective treatment for pediatric dystonia.

Objective: To analyze the clinical phenotypes of epilepsies in children with GABRB2 variants. Methods: Data of 8 epileptic patients with heterozygous GABRB2 variants were retrospectively collected at the Department of Pediatrics, Peking University First Hospital from April 2016 to December 2018. The clinical, electroencephalographic, neuroimaging characteristics, therapeutic and follow-up were analyzed. Results: Eight patients (4 boys, 4 girls) with heterozygous GABRB2 gene pathogenic variants were enrolled. Eight patients had different GABRB2 variants, among whom 2 patients inherited the variants from either parent, and the other 6 patients had de novo variants. Seven variants were novel. Ages at seizure onset ranged from 1 day to 22 months after birth, and the median age was 6 months. The seizure was first observed within one month of age in 2 patients, 1-6 months in 2 patients, 7-12 months in 2 patients, and beyond 1 year of age in 2 patients. Multiple seizure types were observed, including focal seizures in 6 patients, generalized tonic clonic seizures (GTCS) in 4 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. Developmental delay was present in 6 patients. In 8 patients, Dravet syndrome was diagnosed in 3 patients, febrile seizures plus and West syndrome in 2 patients, respectively, Ohtahara syndrome in 1 patient. Six patients had epilepsy with fever sensitivity, and status epilepticus developed in all these patients. The ages at the last follow-up ranged from 8 months to 11 years, and the follow-up data showed that 5 patients were seizure-free, and 2 patients still had seizures, and 1 patient died of recurrent status epilepticus complicated with fungal infection. Conclusions Epilepsies associated with GABRB2 variants were characterized by an onset in infancy, and the clinical features were heterogenous in seizure types and severities. Most patients had multiple seizures with fever sensitivity, and status epilepticus was common. Their seizures were easily induced by fever or infection. Additionally, the majority of the patients had varying degrees of developmental delay.

Objective: To summarize the clinical phenotype and genotype features of 3 children with progre-ssive myoclonic epilepsy (PME) caused by KCNC1 gene mutations, and to review the related literatures. Methods: The phenotype and genotype of 3 children with KCNC1 mutations in the Department of Pediatrics, Peking University First Hospital from October 2016 to January 2019 were analyzed.The 25 patients with KCNC1 mutations which had been reported internationally were also collected and analyzed. Results: Three children in this study were identified with KCNC1 de novo mutations, in which 2 children were identified with c. 959G>A (p.Arg320His) mutation, and 1 child with c. 1262C>T (p.Ala421Val) mutation.The clinical features of 3 children were consistent with PME, and the seizure onset ages were 3 months, 10 years and 11 years, respectively.Three children all had myoclonic seizures, among whom 1 child had generalized tonic-clonic seizure and 2 children had focal seizures.Three children all had intellectual and/or motor development delay.The electroencephalograph showed generalized spike and waves or polyspike and waves in 3 children, and focal discharge in 2 children.The brain imaging of 3 children was normal.The last follow-up ages were 3 years old, 13 years old and 12 years old, respectively.Until March 2019, there were 25 cases with KCNC1 gene mutations reported internationally.Including 3 patients in this study, there were 28 patients in total, of which 25 patients were diagnosed with PME.In these 25 patients, 24 patients were identified with p. Arg320His variant in the transmembrane area, 1 patient was identified with p. Ala421Val variant in the transmembrane area.The remaining 3 patients were only found with psychomotor developmental delay without seizures, and they were identified with p. Arg339X variant in the intracellular area.In the 28 patients, 16 cases received cranial imaging data, in which 12 patients had ce-rebellar atrophy and 4 cases were normal.Of the 28 patients, 18 cases were mentally retarded, 27 cases were development retardation or retrogression among whom 9 cases could not walk independently.Ten patients were over 30 years old when reported, and only 1 patient died of pneumonia and respiratory failure at 63 years old. Conclusions KCNC1 gene mutation mainly leads to PME phenotype, and a few patients can only show mental retardation.p.Arg320His is the most common variant of KCNC1 gene.The variants in different structural regions result in different clinical phenotypes, and variants in the transmembrane region can lead to severer clinical phenotypes.The 3 patients with KCNC1 gene mutations in this study are firstly reported cases in China.

OBJECTIVETo study iodine nutrition of pregnant women in different occasions and thyroid function of their neonates.

METHODSUrinary iodine of pregnant women and their serum T(3), T(4), FT(3), FT(4) were determined by chloric acid-digestion thermostatic assay and RIA, TSH determination by IRMA; neonatal umbilical cord blood TSH was determined by ELISA.

RESULTSMedian urinary iodine of pregnant women were 206.3 microg/L, 161.4 microg/L, 203.3 microg/L at 10 - 14 (first occasion), 23 - 27 (second occasion) and 39 - 40 (third occasion) week but the percentage that lower than 100 microg/L were 14.6%, 17.1%, 11.1% respectively. Serum T(3), T(4) of pregnant women was significantly higher than those women of premarital health inspection (PHIW, P < 0.001). The difference of serum T(3), T(4) of pregnant women at 10 - 14 and 39 - 40 week was not significant. Serum FT(3), FT(4) of pregnant women at 39 - 40 week were 2.61 +/- 0.47 pmol/L and 5.50 +/- 1.57 pmol/L respectively. The difference of serum TSH concentration at third occasion and first occasion of pre-pregnancy was significant but the difference of TSH frequency distribution in three groups was not significant (chi(2) = 1.138, P > 0.5). Blood TSH median neonatal umbilical cord was 1.99 mU/L but the percentage that higher than 5 mU/L was 9.4%.

CONCLUSIONFor those areas with high iodized salt coverage, pregnant women had had sufficient iodine supplement and good thyroid function. The percentage of neonates from iodine sufficient pregnant women with TSH > 5 mU/L was lower than 10%. Using the normal range of nonpregnant FT(3) and FT(4) to estimate the thyroid function of pregnant women could cause mis diagnosis.

Female ; Fetal Blood ; chemistry ; Humans ; Infant, Newborn ; Iodine ; urine ; Pregnancy ; Thyroid Gland ; physiology ; Thyroid Hormones ; blood ; Thyrotropin ; blood

Objective: To compare the visual quality after topography-guided customized femtosecond laser-assisted in situ keratomileusis (FS-LASIK) and wavefront-optimized FS-LASIK treatment in myopic eyes. Methods: A non-randomized controlled clinical study was performed.Seventy-eight eyes of 39 myopic patients undergoing FS-LASIK in Beijing Tongren Hospital from October 2016 to February 2017 were enrolled in this study and divided into two groups according to each patient's opinion, with matched demography between the two groups.Topography-guided customized FS-LASIK was performed on 42 eyes of 21 myopia in the topography-guided group, and wavefront-optimized FS-LASIK was performed on 36 eyes of 18 patients in the wavefront-optimized group.Visual acuity, refractive error, higher order aberrations (HOAs) and contrast sensitivity(CS) were compared between the two groups before and 6 months after surgery.Written informed consent was obtained from each patient before the operation.This study protocol was approved by Ethic Committee of Beijing Tongren Hospital (No.TRECKY2014-026). Results: The postoperative uncorrected visual acuity (UCVA) levels were eaqual to or better than the preoperative best corrected visual acuity (BCVA) in 95.2% patients in the topography-guided group, and in 94.4% patients in the wavefront-optimized group 6 months after surgery, respectively.There were no significant differences in the spherical equivalent, sphere refraction and cylinder refraction between the two groups (all at P>0.05). The amount of induced coma was significantly lower in the topography-guided group than that in the wavefront-optimized group ([0.07±0.22]μm vs.[0.22±0.16]μm) at 6 mm pupil.LogCS improved under the 12.0 c/d in the background of mesopic in the topography-guided group and decreased under the 18.0 c/d both in the background of mesopic and mesopic + glare in the wavefront-optimized group 6 months after surgery, with signifcant differences between them (all at P<0.05). LogCS values under 6.0, 12.0 and 18.0 c/d in the background of mesopic and 18.0 c/d in the background of mesopic+ glare in the topography-guided group were significantly higher than those in the wavefront-optimized group 6 months after surgery, with significant differences between the two groups (all at P<0.05). Conclusions Topography-guided FS-LASIK has lower higher-order aberrations and better CS than wavefront-optimized FS-LASIK.

Objective:To summarize the genotypes and phenotypes of children with ALG13 gene related congenital disorders of glycosylation type Ⅰ. Methods:Four epilepsy patients with ALG13 variants visiting the Department of Pediatrics, Peking University First Hospital from January 2016 to July 2019 were included.Their clinical data and gene results were analyzed. Results:There were 1 boy and 3 girls.Three patients had p. N107S variant, and 1 case had p. W112X variant.Two patients inherited the variants from their asymptomatic mother and 2 patients had de novo variants.The seizure began at 3 months to 2 years old.Focal seizure was observed in 1 patient, and epileptic spasms in 2 patients.Focal seizure, tonic seizure and epileptic spasms were observed in 1 patient simultaneously.Three patients were diagnosed with infantile spasms.All patients with ALG13 variants had developmental delay, including autistic-like features in 3 cases, hypotonia in 2 cases, and visual disorders in 1 case.The electroencephalography showed hypsarrhythmia in 3 children, and focal spikes and waves in 1 child, and spasms in 2 children.The brain magnetic resonance imaging showed cerebral atrophy in 1 patient, while the other 3 cases were normal.The last follow-up age was 2 years and 2 months to 4 years and 4 months.Four patients still had frequent seizures after treatment with antiepileptic drugs. Conclusions:ALG13 variants were mainly de novo, and p. N107S is a hot variant.ALG13 gene variations mainly occur to infants, characterized by developmental delay and spasms.Infantile spasm is the most common phenotype.Some patients have autistic-like features, hypotonia, visual disorders and cerebral atrophy.