Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 22
Filter
1.
Chinese Journal of Applied Clinical Pediatrics ; (24): 706-709, 2022.
Article in Chinese | WPRIM | ID: wpr-930501

ABSTRACT

Objective:To analyze clinical data of 3 children with LMX1B-associated disease characterized by asymptomatic glomerular proteinuria, thus improving the recognition of asymptomatic proteinuria with genetic causes. Methods:Three patients with LMX1B-associated disease presented with prominent asymptomatic proteinuria diagnosed by the next-generation sequencing in Department of Pediatrics, Peking University First Hospital from April 2014 to October 2017 were included in this study.Clinical data, including renal and extrarenal manifestations, renal biopsy, and family history, were collected and retrospectively analyzed. Results:All 3 children were girls, the age of onset were 2 years, 1 year, and 4 years, respectively, and the diagnosis age were 11 years, 5 years and 6 years, respectively.All of them had glomerular proteinuria, and nephrotic-level proteinuria occurred in one patient.Microscopic hematuria was found in 2 patients.All of them had normal renal function.Only one patient underwent renal biopsy.Electron microscopy of the first time of biopsy revealed segmental thinning of the glomerular basement membrane.Re-biopsy 4 years later showed irregular thickening of the glomerular basement membrane, moth-eaten appearance and collagen fibrillar material deposition.No abnormalities of nails, limbs and joints were observed by physical examination.Two patients had a family history of renal disease.Conclusions:Genetic factors should be considered in children with obscure onset asymptomatic proteinuria without definite clinical causes.Genetic testing can help diagnose and guide treatment as early as possible.

2.
JOURNAL OF RARE DISEASES ; (4): 233-237, 2022.
Article in English | WPRIM | ID: wpr-1005009

ABSTRACT

Rare kidney diseases are important causes of chronic kidney disease (CKD) in children. The majority of rare kidney diseases in children are hereditary kidney diseases, accounting for about 29.7% to 52.1% of children with CKD. Next-generation sequencing has been widely used in clinical diagnosis in the past decade, leading to the improvement of the diagnosis of hereditary kidney diseases. In 2018, China announced the first list of rare diseases and greatly enhanced the diagnosis, treatment and research of rare diseases in China, including rare kidney disease. Meanwhile, China faces great challenges in the diagnosis and treatment of hereditary kidney diseases in Children, including the assessment of pathogenicity of gene variants, the lack of biomarkers for disease progression and therapy efficacy, lack of drugs, and others. The future lies in the cooperation between patients, physicians, researchers, and health policy markers, and the fast translation from research finding to clinical application, so as to meet the demand from the children with rare kidney diseases in China.

3.
Chinese Journal of Nephrology ; (12): 865-871, 2021.
Article in Chinese | WPRIM | ID: wpr-911906

ABSTRACT

Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.

4.
Chinese Journal of School Health ; (12): 1803-1807, 2019.
Article in Chinese | WPRIM | ID: wpr-815591

ABSTRACT

Objective@#To understand the needs of primary and secondary school students, parents and teachers for comprehensive sexuality education content, and to explore the applicability of comprehensive sexuality education content in China.@*Methods@#By using the method of stratified cluster sampling, 5 571 primary and middle school students and 4 835 parents from Beijing, Chongqing, Heilongjiang (Harbin and Jiamusi) and Hubei (Wuhan and Xiaogan) were selected for questionnaire survey. Depending on the physical health monitoring points of various provinces and cities, 176 sexuality education related teachers in nine regions were surveyed. The development of the questionnaire was based on the content framework of comprehensive sexuality education proposed in the International Technical Guidelines for Sexuality Education.@*Results@#Students had a higher demand for knowledge on the concepts of "relationship" (53.4% for primary school students, 57.6% for junior high school students) and "health and well-being skills" (71.1% for primary school students, 55.9% for junior high school students). Parents had higher demand for most comprehensive sexuality education content with the exception of lower need for "sex and sexual behavior (74.7% of primary school parents, 80.8% of junior high school parents)" and "sexual and reproductive health (primary parents 74.3%, junior high school parents 75.8%)". Teachers had a high demand for most comprehensive sexuality education content, but primary school teachers had a lower need for "values, rights, culture and sex(65.9%)", "sex and sexuality(60.1%)" and "sexual and reproductive health(66.8%)". The results of correspondence analysis showed that junior middle school teachers had the highest demand for comprehensive education content, followed by primary school parents, junior middle school parents, primary school teachers, junior middle school students and primary school students.@*Conclusion@#Teachers and parents have a higher demand for most comprehensive sexuality education content, while lower demand for some relatively sensitive content. Students have a relatively low demand for comprehensive sexuality education content. It is recommended to further improve the content of school sexuality education based on the actual needs of China.

5.
Chinese Journal of School Health ; (12): 515-518, 2019.
Article in Chinese | WPRIM | ID: wpr-818810

ABSTRACT

Objective@#To understand the awareness of sexual knowledge among primary and secondary school students, as well as their attitudes towards school sex education and to provide a reference for school-based sex education.@*Methods@#A total of 5 531 primary and secondary school students were selected from Beijing, Chongqing, Heilongjiang (Harbin and Jiamusi) and Hubei (Wuhan and Xiaogan) by stratified cluster sampling and were investigated with self-reported questionnaire.@*Results@#Sex-related knowledge scored 62.33±19.35, with a pass rate of 61.9%, and the excellent rate 17.5%. Sexual knowledge of junior high school students scored 64.30±19.07, with the pass rate of 64.7%, and the excellent rate 22.0%. A large proportion of primary students reported unaware of pubertal growth and HIV/AIDS-related knowledge, and a large proportion of junior high students unaware of reproductive physiology. Multivariate Logistic regression analysis showed region, grade, gender, and suburban areas were related to the level of sexual knowledge(P<0.05). More than 76.0% primary students and 85.9% middle school students agreed on the importance of school sexuality education. 59.7% of primary school students and 73.3% of junior high school students hoped to include school sexuality education in compulsory education courses; 59.8% of primary school students and 68.3% of junior high school students felt that school sexuality education should be equipped with specialized teachers.@*Conclusion@#Chinese primary and secondary school students are lack of sexual knowledge. As students have strong wills to get more information on sexual knowledge, schools should provide them with more comprehensive and effective sex education through appropriate courses and activities.

6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 338-340, 2019.
Article in Chinese | WPRIM | ID: wpr-752237

ABSTRACT

Objective To explore the feasibility of establishing such an on_line registry of hereditary kidney diseases in Chinese children. Methods Selecting disease categories,designing input parameters,data quality and secu_rity are key factors of establishing an on_line registry of hereditary kidney diseases including general information,clini_cal data,relevant examinations,genetic testing,medication and follow_up. Results The first on_line,multi_cen_tered registry of children with hereditary kidney diseases in China was established using Java language and MySQL data_base. It contained 1 580 parameters and covered 6 major hereditary kidney diseases including Alport syndrome,protei_nuria related kidney disease,renal tubular disease,renal cystic disease,congenital anomalies of kidney and urinary tract and other hereditary kidney diseases. To date,a total of about 2 200 families from 32 tertiary hospitals have been regis_tered. About 648 families have well_documented follow_up records with a maximum follow_up of 13. 5 years. The registration system has data screening,export and simple statistical functions. The registry system had a clear interface, and was convenient and friendly to use. The input data could be real_time updated,and dedicated personnel was re_sponsible for data review and quality control to ensure security and reliability. Conclusions The on_line registry of children with hereditary kidney diseases not only facilitates standardized management of patients. Moreover,it provides a platform and a good foundation for the establishment and expansion of clinical research cohort.

7.
Chinese Journal of Pediatrics ; (12): 658-662, 2017.
Article in Chinese | WPRIM | ID: wpr-809206

ABSTRACT

Objective@#Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder.@*Method@#Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed.@*Result@#Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases.@*Conclusion@#Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

8.
Chinese Journal of Disease Control & Prevention ; (12): 879-883,887, 2017.
Article in Chinese | WPRIM | ID: wpr-607926

ABSTRACT

Objective To analyze epidemic status and influencing factors for the poor vision of the students in Henan in 2014 and to provide the scientific basis of more targeted myopia prevention strategies.Methods The data of 34 886 students aged 9 to 18 who were involved in the students'physical fitness survey in Henan province in 2014 was used to analyze epidemic status and influencing factors for the poor vision.Results The prevalence rate of myopia among Henan students was 62.5%.In addition,high school was higher than middle school which was higher than primary school.Girl was higher than boy,and urban was higher than rural.Through the unconditional logistic regression,having breakfast three to five times a week,eating eggs three to five times a week,drinking milk unusually,doing exercise over two hours a day,and watching TV over two hours a day were the protective factors for poor vision,of which the OR were 0.850,0.883,0.864,0.830,0.738 respectively.Correspondingly,the 95% CI were 0.776-0.931,0.813-0.960,0.812-0.920,0.722-0.955,0.681-0.799.While sleeping less than seven hours,PE class one time a week or less,refusing to run longdistance,doing homework over two hours,and playing the e-productions over two hours were the risk factors of which OR were 1.100,1.091,1.100,1.375,1.155 respectively.Correspondingly,the 95% CI were 1.009-1.199,1.017-1.172,1.024-1.183,1.287-1.469,1.072-1.244.Conclusions The rate of the myopia among the students in Henan is still severe.There are multifarious factors related to poor vision.Therefore,much more targeted measures should be taken to prevent poor vision from developing.

9.
Journal of Clinical Pediatrics ; (12): 418-420, 2016.
Article in Chinese | WPRIM | ID: wpr-492736

ABSTRACT

Objective To explore the diagnosis and treatment of Dent’s disease.MethodsThe clinical characteristics, treatment process and disease-causing gene mutation were retrospectively analyzed in 6 pediatric patients with Dent’s disease misdiagnosed of nephritic syndrome from January 2014 to August 2015.ResultsIn these 6 male patients aged 4.5-9.8 years old, the main clinical manifestations were nephropathy-level of proteinuria and transient low serum albumin (26-30 g/L) without obvious edema or high serum cholesterol. In 4 patients who had renal biopsy, 2 cases showed mesangial proliferative glomerulonephritis and other 2 cases showed focal segmental glomerulosclerosis. All of 6 patients were treated with at least one immunosuppressive agent after resistance to full dose of hormone and no changes in proteinuria were observed. After admission, the indexes of early renal damage and urinary protein electrophoresis pointed to low-molecular proteinuria. The ratio of alpha 1 micro albumin (α1-MG) / micro albumin (MA) (the early renal damage index) was?>?1, there was hypercalciuria, and renal function was normal. The B ultrasonography showed renal calciifcation in 2 patients. The ifndings in all the patients were in accord with the clinical diagnosis of Dent’s disease. Further genetic analysis conifrmed the presence ofCLCN5 gene mutation in these 6 patients.ConclusionAs a type of rare inherited renal tubular disorder, Dent’s disease is easily misdiagnosed, to which pediatricians need to pay attention. The early renal damage index, α1-MG/MA?>?1, can be regarded as one of the diagnostic criteria of renal tubular proteinuria.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1318-1320, 2016.
Article in Chinese | WPRIM | ID: wpr-502119

ABSTRACT

Objective In this study,the phenotype heterogeneity of 2 male patients with X-linked Alport syndrome from one family was analyzed and the likely reasons were discussed by reviewing the literature.Methods The clinical data at the time of diagnosis and during 5 years follow-up of 2-male patients with X-linked Alport syndrome from one family were collected.The α5 (Ⅳ) chain expression in the epidermal basement membrane was detected by indirect immunofluorescence method.COL4A5 gene mutations in skin fibroblasts and genomic DNA were detected by using reverse transcription polymerase chain reaction and direct sequencing and PCR sequencing methods from skin fibroblasts and genomic DNA,respectively.Results The diagnostic age of patient Ⅲ 1 was 14 years old.He had only microscopic hematuria,and proteinuria was negative.A negative α5 (Ⅳ) chain staining pattern was detected in his epidermal basement membrane.After 5 years follow-up without drug treatment,he was 19 years old,had persistent microscopic hematuria and normal renal function.The urinary microalbumin was 19.2-31.8 mg/L.The diagnosis age of patient Ⅱ 4 was 29 years old.The hematuria and proteinuria were found at 22 years old.He was treated with tripterygium wilfordii for 1 year.His disease progressed to an end stage of renal disease and he received hemodialysis therapy at 24 years old.He had the renal transplantation surgery at 29 years old,just 2 months before he came to hospital.And his renal function was restored.After 5 years follow-up,his urine examination and renal function were normal.Both patients had a missense mutation c.3650G > A(p.G1217D) in exon 41 in COL4A5 gene.Conclusions The different phenotypes of 2 male patients from one family with X-linked Alport syndrome were reported.The most possible reason for this is somatic mosaic variants in COL4A5 gene based on literature review.Physicians should be alert to phenotype heterogeneity in male X-linked Alport syndrome despite having the same gene mutation.

11.
Chinese Journal of Tissue Engineering Research ; (53): 1745-1752, 2016.
Article in Chinese | WPRIM | ID: wpr-485680

ABSTRACT

BACKGROUND:In previous studies, the dehydrothermal cross-linking method was modified by the authors to improve the degradation property of colagen scaffolds. The cross-linking time was increased from 24 to 48 hours, and the cross-linking temperature increased from 105 to 115℃. OBJECTIVE:To verify the anti-degradation ability of colagen scaffolds prepared using the modified dehydrothermal cross-linking method and to obtain the optimal efficacy of the scaffolds on damaged tissue repair and regeneration. METHODS: Highly-purified type I colagen scaffolds with native triple helix structure were prepared and subjected to three different dehydrothermal cross-linking conditions: 105℃ for 24 hours, 105℃ for 48 hours and 115℃ for 24 hours. Material samples, 1 cm×1 cm, were implanted subcutaneously into the rat dorsum. The specimens were harvested at 3 days, 14 days and 42 postoperative days folowed by fixation and histological analysis using hematoxylin-eosin staining. RESULTS AND CONCLUSION:No untoward foreign body and immunological reactions were observed in any groups. In the group of 105℃ for 48 hours, the scaffold retention and degree of pore openness were better than the other two groups at 14 days after scaffold implantation (P < 0.05). These findings indirectly suggest that the anti-degradation ability of colagen scaffolds can be strengthened under certain dehydrothermal cross-linking conditions: the cross-linking time is increased from 24 to 48 hours.

12.
Journal of Pharmaceutical Practice ; (6): 357-358,384, 2016.
Article in Chinese | WPRIM | ID: wpr-790630

ABSTRACT

Objective To investigate the stability of torasemide injection and predict its expiration date in room temperatue .Methods The contents of torasemide were determined by HPLC .The expiration date was predicted by classical constant-temperature experiment .Results The contents of torasemide degradation with time according to a first order reaction at room temperature (25 ℃) .The disintegration rate constant K was K25 ℃ =5 .186 9 × 10-6 h-1 and the expiration date of to-rasemide injection was t0 .9 =2 .32 years .Conclusion The torasemide injection expiration date was tentatively scheduled for two years .

13.
Chinese Journal of Pediatrics ; (12): 61-64, 2016.
Article in Chinese | WPRIM | ID: wpr-351448

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of X-linked Alport syndrome (XLAS) in men positive for the collagen α5(Ⅳ) chain in epidermal basement membrane.</p><p><b>METHOD</b>This was a retrospective study. Totally 725 families were diagnosed as Alport syndrome in Department of Pediatrics of Peking University First Hospital during January 1998 to December 2014, among them 450 patients were males with XLAS. Patients who met both of the following two criteria were included in this study. (1)Patients underwent α5(Ⅳ) chain staining in the epidermal basement membrane. (2)Mutations in COL4A5 gene were detected.Mann-Whitney test and χ(2) test were used.</p><p><b>RESULT</b>Totally 140 males with XLAS were included in this study, 18 cases were α5 (Ⅳ)-positive and 122 cases were α5 (Ⅳ)-negative. The two groups of patients were compared, the median age at analysis was 11.0 vs. 7.2 years (Z = -1.839, P = 0.066), the 24-hour urine protein was 1.50 vs. 0.57 g/d (Z = -1.212, P = 0.226), the rate of hearing loss was 28% vs. 53% (χ(2) = 3.619, P = 0.067), the number of patients progressed to end stage renal disease (ESRD) was 4 vs. 12 (χ(2) =2.377, P = 0.128), the median age of ESRD was 31.0 vs. 16.6 years (Z = -2.554, P = 0.011), the rate of missense mutations in COL4A5 gene was 67% vs. 52% (χ(2) = 1.424, P = 0.313).</p><p><b>CONCLUSION</b>Compared the two groups of patients with positive and negative staining for the collagen Ⅳ α5 chain in epidermal basement membrane, there was no significant difference in the proteinuria level, the rate of hearing loss and genotype of COL4A5 gene. But the patients with positive staining progressed to ESRD significantly later than the patients with negative staining.</p>


Subject(s)
Child , Humans , Male , Basement Membrane , Pathology , Collagen Type IV , Genetics , DNA Mutational Analysis , Deafness , Kidney Failure, Chronic , Mutation, Missense , Nephritis, Hereditary , Genetics , Pathology , Proteinuria , Retrospective Studies
14.
Journal of Chinese Physician ; (12): 78-80, 2015.
Article in Chinese | WPRIM | ID: wpr-465961

ABSTRACT

Objective To investigate the clinical effect,safety,and value of bronchofibroscopeguided bronchoalveolar lavage and topical antibiotics in the treatment of pediatric patients with severe pneumonia.Methods A total of 60 patients with severe pneumonia was randomly divided into two groups with 30 cases in each group.Patients in the control group were treated with conventional anti-infection therapy,while patients in the treatment group were treated with bronchofibroscope-guided bronchoalveolar lavage and topical antibiotics on the basis of conventional therapy.The sputum positive rate,clinical effect,hospital stays,treatment costs,and adverse reactions were compared to analyze its value.Results The total effective rate of treatment group was 93.3%,which was significantly higher than that (60.0%) in the control group (P <0.01).The sputum positive rate of treatment group was 80.0%,which was significantly higher than that (43.3%) in the control group (P <0.01).The hospital stays and the treatment costs of the treatment group were both significantly less than those in control group (P <0.01 orP <0.05).No serious complications were found in patients of the treatment group.Conclusions Bronchofibroscope-guided bronchoalveolar lavage and topical antibiotics in the treatment of pediatric patients with severe pneumonia show exactly clinical effects and significant improvement in dyspnea,which shortens the hospital stays,reduces the treatment costs,and has no seriously adverse reactions.Therefore,it is worthy of clinical promotion and application.

15.
Journal of Clinical Pediatrics ; (12): 574-578, 2014.
Article in Chinese | WPRIM | ID: wpr-452254

ABSTRACT

Objective To improve the knowledge of primary gout in children. Methods Clinical data of a 12-year-old girl with primary gout was collected. Analysis of UMOD gene, REN gene and HNF-1βgene was performed using PCR and di-rect sequencing. Results The girl was admitted for 1-month history of left hallux pain accompanied with elevations of serum uric acid concentration and serum creatinine concentration. Several examinations showed serum uric acid/creatinine ratio was greater than 2.5. The fractional excretion of uric acid was 3.4%-6.6%. The X-ray showed that the proximal phalanxes of halluces were erosion. The diagnosis of renal biopsy was ischemic renal injury and chronic tubulointerstitial nephropathy. Blood uric acid concentrations of parents were normal, and the family history of gout was negative. Two single nucleotide polymorphisms (c.264C>T heterozygous and c.866-71 G>A heterozygous) in UMOD gene, 1 single nucleotide polymorphism (c.373+44C>G heterozygous) in REN gene, and 2 single nucleotide polymorphisms (c.100-50-49ins TCTG heterozygous and c.781-22T>C homozygous) in HNF-1βgene were detected. No pathological mutation was detected in these 3 genes. Conclusions This child is highly suspected to have primary gout caused by familial juvenile hyperuricemic nephropathy.

16.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 902-907, 2014.
Article in Chinese | WPRIM | ID: wpr-248030

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype.</p><p><b>METHODS</b>The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases.</p><p><b>RESULTS</b>Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS); 44 cases had normal hearing, but 14 young cases had abnormal OAE; 48 cases (52.2%, 35 male, 13 female) had sensorineural hearing loss. A total of 44 cases with XLAS had hearing loss (49.4%), wherein the incidence of hearing impairment was 55.0% in male XLAS, and 37.0% in female XLAS. Mild and moderate hearing loss were found in XLAS. Audiometric curves including groove type (21 cases), descending type (13 cases), flat type (10 cases), high frequency drop type (3 cases) and ascending type (1 case) were found in AS. Sixteen mutations of COL4A3, COL4A5 gene were found in 17 cases with Alport syndrome, including severe mutation in 8 cases with moderate hearing impairment.</p><p><b>CONCLUSIONS</b>Mild and moderate hearing impairment, and groove type of audiometric curve are mainly found in Chinese Alport syndrome, which is different from Alport syndrome in western countries. OAE in the early diagnosis of hearing loss is important. Hearing phenotype is related certainly with genotype.</p>


Subject(s)
Female , Humans , Male , Asian People , Base Sequence , Collagen Type IV , DNA , Deafness , Exons , Fibroblasts , Genotype , Mutation , Nephritis, Hereditary , Diagnosis , Phenotype , Polymerase Chain Reaction , RNA, Messenger
17.
Chinese Journal of Practical Nursing ; (36): 1-3, 2010.
Article in Chinese | WPRIM | ID: wpr-390892

ABSTRACT

Objective In order to know the effect of rehabilitation of pelvic organs by pelvic floor muscle training and electrical stimulation. Methods Divided 330 pregnant women into the integrated group(120 cases),the experimental group(100 cases) and the control group(100 cases) randomly. Rou-tine nursing cares was used in the control group, pelvic floor muscle training and electrical stimulation were used in the integrated group in addition, pelvic floor muscle training was used in the experimental group. Evaluated the rehabilitation condition of pelvic organs in the 42nd day after delivery among the three groups. Results All the indexes which can indicated the rehabilitation condition of pelvic or-gans in the integrated group and the experimental group were significant better than those of in the con-trol group, while there was no significant differences about the above indexes between the integrated group and the experimental group. Conclusions Pelvic floor muscle training combined with electrical stimulation can effective promote the rehabilitation of function of pelvic organs, and then prevent the in-cidence of related diseases.

18.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 314-315, 2008.
Article in Chinese | WPRIM | ID: wpr-965390

ABSTRACT

@#Objective To investigate the influence of rehmannia glutinosa oligosaccharide(RGOs)on apoptosis of human adipose tissue-derived mesenchymal stromal cells(ADMSCs)induced by hydrogen peroxide(H2O2).Methods Cultured human ADMSCs were randomly divided into three groups as the normal group(group N,without any treatment),H2O2 group(group H,treated with 0.1 mmol/L H2O2),and RGOs group(group R,treated with 0.2g/L RGOs plus 0.1 mmol/L H2O2).After 1 h,6 h and 24 h,morphological changes of ADMSCs apoptotic were observed,the apoptotic rate was determined by flow cytometry.Results After 1 h,6 h and 24 h,the apoptotic rate of group H was significantly higher than that of the group N and group R(P<0.05),and the apoptotic rate of group H was significantly higher than that of the group R(P<0.05).Conclusion RGOs can attenuate apoptosis of human ADMSCs induced by H2O2.

19.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 175-177, 2008.
Article in Chinese | WPRIM | ID: wpr-965080

ABSTRACT

@#Objective To evaluate the effect of metabolic syndrome(MS)on prognosis of patients with cardiovascular diseases(CVD).Methods The data of 143 CVD patients including the age,waistline,blood pressure,body mass index(BMI),coronary arteriongraphy,ultrasound and blood glucoset,total cholesterol(TC),triglycerides(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),uric acid(UA),creatinine(Cr)were analyzed to detect the incidence of MS,the position and degree of coronary atherosclerosis,organ functional failure(OFF)and ventricular remodelling in the MS patients and those without MS.Results Of 143 CVD patients,72 cases(50.35%)were diagnosed with MS,and UA,Cr,waistline,systolic blood pressure(SBP),diastolic blood pressure(DBP),blood sugar,TG,body mass index(BMI),MS index,HDL-C,left ventricular end-systolic diameter(LVESD),ejection fraction(EF),left atrial dimension(LAD),interventricular septum thickness(IVST),posterior wall thickness(PWT),left ventricular mass(LVM),left ventricular mass index(LVMI),myocardial infraction(MI),stroke,cardia insufficiency,the position and degree of coronary atherosclerosis had difference between the patients with MS and without MS(P<0.05).Conclusion MS is a condition characterized by clustering of CVD risk factors.MS not only increases the incidence of CVD and OFF in the patients,but also effects the prognosis.

20.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 175-177, 2008.
Article in Chinese | WPRIM | ID: wpr-965078

ABSTRACT

@#Objective To evaluate the effect of metabolic syndrome(MS)on prognosis of patients with cardiovascular diseases(CVD).Methods The data of 143 CVD patients including the age,waistline,blood pressure,body mass index(BMI),coronary arteriongraphy,ultrasound and blood glucoset,total cholesterol(TC),triglycerides(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),uric acid(UA),creatinine(Cr)were analyzed to detect the incidence of MS,the position and degree of coronary atherosclerosis,organ functional failure(OFF)and ventricular remodelling in the MS patients and those without MS.Results Of 143 CVD patients,72 cases(50.35%)were diagnosed with MS,and UA,Cr,waistline,systolic blood pressure(SBP),diastolic blood pressure(DBP),blood sugar,TG,body mass index(BMI),MS index,HDL-C,left ventricular end-systolic diameter(LVESD),ejection fraction(EF),left atrial dimension(LAD),interventricular septum thickness(IVST),posterior wall thickness(PWT),left ventricular mass(LVM),left ventricular mass index(LVMI),myocardial infraction(MI),stroke,cardia insufficiency,the position and degree of coronary atherosclerosis had difference between the patients with MS and without MS(P<0.05).Conclusion MS is a condition characterized by clustering of CVD risk factors.MS not only increases the incidence of CVD and OFF in the patients,but also effects the prognosis.

SELECTION OF CITATIONS
SEARCH DETAIL