Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 39
Filtrar
1.
Chinese Journal of Medical Genetics ; (6): 1155-1159, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009268

RESUMEN

OBJECTIVE@#To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS).@*METHODS@#A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents.@*RESULTS@#The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C>T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents.@*CONCLUSION@#The child was diagnosed with FSGSNEDS, for which the c.1375C>T variant of the TRIM8 gene may be accountable.


Asunto(s)
Masculino , Humanos , Niño , Preescolar , Variaciones en el Número de Copia de ADN , Glomeruloesclerosis Focal y Segmentaria/genética , Genómica , Heterocigoto , Cariotipificación , Proteínas Portadoras , Proteínas del Tejido Nervioso
2.
The Korean Journal of Pain ; : 163-172, 2023.
Artículo en Inglés | WPRIM | ID: wpr-969165

RESUMEN

Background@#Synaptic plasticity contributes to nociceptive signal transmission and modulation, with calcium/ calmodulin-dependent protein kinase II (CaMK II) playing a fundamental role in neural plasticity. This research was conducted to investigate the role of CaMK II in the transmission and regulation of nociceptive information within the nucleus accumbens (NAc) of naïve and morphine-tolerant rats. @*Methods@#Randall Selitto and hot-plate tests were utilized to measure the hindpaw withdrawal latencies (HWLs) in response to noxious mechanical and thermal stimuli. To induce chronic morphine tolerance, rats received intraperitoneal morphine injection twice per day for seven days. CaMK II expression and activity were assessed using western blotting. @*Results@#Intra-NAc microinjection of autocamtide-2-related inhibitory peptide (AIP) induced an increase in HWLs in naïve rats in response to noxious thermal and mechanical stimuli. Moreover, the expression of the phosphorylated CaMK II (p-CaMK II) was significantly decreased as determined by western blotting. Chronic intraperitoneal injection of morphine resulted in significant morphine tolerance in rats on Day 7, and an increase of p-CaMK II expression in NAc in morphine-tolerant rats was observed. Furthermore, intra-NAc administration of AIP elicited significant antinociceptive responses in morphine-tolerant rats. In addition, compared with naïve rats, AIP induced stronger thermal antinociceptive effects of the same dose in rats exhibiting morphine tolerance. @*Conclusions@#This study shows that CaMK II in the NAc is involved in the transmission and regulation of nociception in naïve and morphine-tolerant rats.

3.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 1209-1216, 2020.
Artículo en Chino | WPRIM | ID: wpr-905355

RESUMEN

Objective:To analyze the characteristics of athletes' sports injuries during the Winter Olympic and Winter Youth Olympic Games. Methods:The information of registered athletes during the 2010, 2014 Winter Olympics and 2012 Winter Youth Olympic Games, including the injury numbers of each sport, damage sites, types and severity of injuries were collected, and the epidemiological characteristics were analyzed. Results:A total of 6370 person-time registered athletes were collected and 789 sports injuries were recorded. The injury rate per 1000 registered athletes was 123.9. An average of 11% of athletes was injured at least once. There was a significant difference in the injury rate among these events (χ2 = 12.301, P = 0.002). Women were more likely to be injured than men (χ2 = 5.220, P = 0.022). The top three sports with the highest injury rate were snowboarding (23.9%), freestyle skiing (23.2%) and Bobsleigh (18.0%); the top three sports with the largest number of injuries were ice hockey (160 person-time, 20.3%), alpine skiing (128 person-time, 16.2%) and snowboarding (113 person-time, 14.3%). The top three most injured sites were knee (54 person-time, 13.6%), head (41 person-time, 10.3%) and lumbar spine/lower back (27 person-time, 6.8%); the top three types of injury were contusion/haematoma/bruise (123 person-time, 30.9%), sprain (dislocation/subluxation or ligamentous rupture) (71 person-time, 17.8%) and strain (muscle rupture/tear or tendon rupture) (47 person-time,11.8%). A total of 251 injuries (31.8%) were expected to result in time loss for the athlete, 81 out of whom were severe injuries (32.3%). Conclusion:There is a mass of sport injuries in winter sports events with different types and severities. The incidence of injury varies with sports, and it is focused on snowboarding, freestyle skiing and Bobsleigh, ice hockey and alpine skiing. It is needed to research the technical characteristics of specific sports, damage risk factors and mechanism to reduce the sports injuries, and to construct green channels for sports injuries, to promote the recovery of function.

4.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 1161-1166, 2020.
Artículo en Chino | WPRIM | ID: wpr-905347

RESUMEN

Spinal injuries caused by competitive sports are common. Spinal diseases are important issues that needs to be solved urgently in the fields of sports injury. Return to play recommendations are complicated due to a mix of medical factors, social pressures, and limited outcome data. This article reviewed the current situation of athletes return to play after spine and spinal cord injury based on disease classification, including cervical spine (cervical soft tissue injuries, cervical fracture and dislocation, cervical stenosis, cervical disk herniation, stingers and burners), thoracic spine (thoracic fracture), lumbar spine (lumbar strain, lumbar stenosis spondylolysis and spondylolisthesis, lumbar disk herniation), and spinal cord concussion and spinal cord injury. This article also analyzed the criteria for athletes to return to play after spine and spinal cord injuries. It may provide references for future clinical management and consensus/guidelines.

5.
Journal of Zhejiang University. Science. B ; (12): 164-169, 2019.
Artículo en Inglés | WPRIM | ID: wpr-1010430

RESUMEN

Non-syndromic hearing loss (NSHL) is a common defect in humans. Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral, moderate to profound NSHL. However, the role of MARVELD2 in NSHL susceptibility in the Chinese population has not been studied. Here we conducted a case-control study in an eastern Chinese population to profile the spectrum and frequency of MARVELD2 variants, as well as the association of MARVELD2 gene variants with NSHL. Our results showed that variants identified in the Chinese population are significantly different from those reported in Slovak, Hungarian, and Czech Roma, as well as Pakistani families. We identified 11 variants in a cohort of 283 NSHL cases. Through Sanger sequencing and bioinformatics analysis, we found that c.730G>A variant has detrimental effects in the eastern Chinese population, and may have relatively high correlation with NSHL pathogenicity.


Asunto(s)
Humanos , Estudios de Casos y Controles , Biología Computacional , Pérdida Auditiva/genética , Proteína 2 con Dominio MARVEL/genética , Polimorfismo de Nucleótido Simple
6.
Journal of Zhejiang University. Science. B ; (12): 170-179, 2019.
Artículo en Inglés | WPRIM | ID: wpr-1010413

RESUMEN

Auditory function in vertebrates depends on the transduction of sound vibrations into electrical signals by inner ear hair cells. In general, hearing loss resulting from hair cell damage is irreversible because the human ear has been considered to be incapable of regenerating or repairing these sensory elements following severe injury. Therefore, regeneration and protection of inner ear hair cells have become an exciting, rapidly evolving field of research during the last decade. However, mammalian auditory hair cells are few in number, experimentally inaccessible, and barely proliferate postnatally in vitro. Various in vitro primary culture systems of inner ear hair cells have been established by different groups, although many challenges remain unresolved. Here, we briefly explain the structure of the inner ear, summarize the published methods of in vitro hair cell cultures, and propose a feasible protocol for culturing these cells, which gave satisfactory results in our study. A better understanding of in vitro hair cell cultures will substantially facilitate research involving auditory functions, drug development, and the isolation of critical molecules involved in hair cell biology.


Asunto(s)
Animales , Ratones , Células Cultivadas , Células Ciliadas Auditivas/fisiología , Ratones Endogámicos C57BL
7.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 1450-1457, 2019.
Artículo en Chino | WPRIM | ID: wpr-905727

RESUMEN

Objective:To Compare and analyze the gut microbiota and biochemical indexes between patients with acute traumatic complete spinal cord injury and healthy subjects. Methods:From May, 2017 to May, 2018, a total of 44 patients with acute traumatic complete spinal cord injury (patient group) and 33 healthy controls (control group) were included. The clinical data and fresh blood, urine and fecal samples of the two groups were collected. The V3-V4 region of 16S rRNA gene was sequenced and analyzed. Results:The abundance of gut microbiota was higher in the patient group than in the control group, and the structural composition was different. Compared with the control group, the expression of Bacteroidetes decreased (P < 0.05), and the expression of Actinobacteria, Proteobacteria, Synergistetes, Saccharibacteria and Cyanobacteria increased in the patient group (P < 0.05). The serum glucose, low density lipoprotein, triglyceride and total cholesterol were significantly higher in the patient group than in the control group (P < 0 05). There was a significant correlation between these elevated markers and intestinal microbial community structure (P < 0.05). Conclusion:There is gut microbiota dysbiosis in patients with acute traumatic complete spinal cord injury, and the changes of the microbiota are related to the elevation of some serum biomarkers.

8.
Chinese Traditional Patent Medicine ; (12): 87-92, 2018.
Artículo en Chino | WPRIM | ID: wpr-710159

RESUMEN

AIM To prepare silymarin solid dispersions and to evaluate the dissolution rates of five constituents.METHODS Taking F68 and PVPk30 as a combined carrier,the solid dispersions were prepared by solvent fusion method.Then the effects of combined carrier ratio and drug-carrier ratio on dissolution rates of silybin,isosilybin,silydianin,silycristin and taxifolin were investigated.RESULTS The optimal conditions were determined to be 1 ∶ 3 for combined carrier ratio,and 1 ∶ 5 for drug-carrier ratio.These five constituents displayed much higher dissolution rates in solid dispersions than those in raw medicine and physical mixture (silymarin-carrier).CONCLUSION Solid dispersions can significantly increase the dissolution rates of effective components in silymarin.

9.
Chinese Journal of Comparative Medicine ; (6): 10-14, 2017.
Artículo en Chino | WPRIM | ID: wpr-668555

RESUMEN

Objective To investigate the correlation between cognitive development and levels of dopamine(DA) and 3,4-dihydroxyphenylacetic acid(DOPAC)in the hippocampus of 80-day-old neonatal rats born of fear-impaired pregnant rats. Methods The pregnant rat model of fear-impaired kidney was established by watching other rats shocked with electricity. The cognitive development of the neonatal rats was assessed by Morris water maze test at 80 days after birth. The brain microdialysis samples of the right hippocampus were collected using a stereotaxic instrument, and the levels of DA and DOPAC were determined by HPLC-ECD. Results Compared with the control group, the mean escape latency of the 80-day-old neonatal rats in the model group was increased. Their swimming speed was slower. The 20% time spent in the peripheral zone became longer, and the frequency of platform crossing was decreased, showing significant differences(P< 0.05). The levels of DA and DOPAC in the extracellular fluid of the hippocampus of the 80-day-old neonatal rats in the model group were decreased at each time points of perfusion, showing a significant difference(P <0.05). The level of DA, a kind of monoamine neurotransmitter in the hippocampus, was positively correlated with the mean escape latency,the frequency of passing the platform of the 80-day-old rats,while was negatively correlated with the 20% time spent in the peripheral zone, with a significant correlation(P < 0.05). In addition, there was a positive correlation between the DOPAC level and the mean escape latency, the frequency of passing the platform(P< 0.05). Conclusions Fear-impaired pregnant rats can affect the spatial learning and memory ability of their 80-day-old neonatal rats,with reduction in the levels of DA and DOPAC in the hippocampus, which is closely correlated with the cognitive development of the neonatal rats.

10.
China Medical Equipment ; (12): 109-113, 2017.
Artículo en Chino | WPRIM | ID: wpr-667327

RESUMEN

Objective: To study and design a software system of filling out and submitting on line for the utilization rate of medical equipment so as to realize automatic analysis for the utilization rate of medical equipment in accordance with the time slot. Methods: SQL Server2000 was used as backend database, and Visual Studi2005 that was object-oriented language was adopted as procedure software to research this system. The filled data of client-side were saved in internal storage array of client, and the array of internal storage could be visited through Socket C of client, and then all of these data were disposably send to server. The Socket of server saved these received data in array of internal storage through the link of Socket C at client-side. And server was used as bridge between client and database through to link active data object of Sql serve2000 database, and it saved these received data of client and visited these data of database, and then returned to client and displayed them at client. Results: The software system realized submission on line for the service situation of medical equipment and saved the times of department that used medical equipment and statistic staff who count utilization rate. Through statistic analysis of computer, the system tremendously reduced the error rate and enhanced the accuracy and work efficiency of statistic work for the utilization rate of medical equipment. Conclusion: The software system can effectively replace the manual filling and calculate the utilization situation of medical equipment, and it can enhance timeliness and accuracy of statistic analysis for the utilization of medical equipment.

11.
Protein & Cell ; (12): 439-445, 2017.
Artículo en Inglés | WPRIM | ID: wpr-757009

RESUMEN

Mesenchymal stem cells (MSCs) are progenitors of connective tissues, which have emerged as important tools for tissue engineering due to their differentiation potential along various cell types. In recent years, accumulating evidence has suggested that the regulation of mitochondria dynamics and function is essential for successful differentiation of MSCs. In this paper, we review and provide an integrated view on the role of mitochondria in MSC differentiation. The mitochondria are maintained at a relatively low activity level in MSCs, and upon induction, mtDNA copy number, protein levels of respiratory enzymes, the oxygen consumption rate, mRNA levels of mitochondrial biogenesis-associated genes, and intracellular ATP content are increased. The regulated level of mitochondrial ROS is found not only to influence differentiation but also to contribute to the direction determination of differentiation. Understanding the roles of mitochondrial dynamics during MSC differentiation will facilitate the optimization of differentiation protocols by adjusting biochemical properties, such as energy production or the redox status of stem cells, and ultimately, benefit the development of new pharmacologic strategies in regenerative medicine.


Asunto(s)
Animales , Humanos , Adipogénesis , Fisiología , Diferenciación Celular , Fisiología , Condrogénesis , Fisiología , Células Madre Mesenquimatosas , Biología Celular , Metabolismo , Mitocondrias , Genética , Metabolismo , Proteínas Mitocondriales , Genética , Metabolismo , Osteogénesis , Fisiología , ARN , Genética , Metabolismo , ARN Mensajero , Genética , Metabolismo , ARN Mitocondrial , Especies Reactivas de Oxígeno , Metabolismo
12.
Basic & Clinical Medicine ; (12): 1546-1551, 2017.
Artículo en Chino | WPRIM | ID: wpr-665109

RESUMEN

Objective To investigate the effect of hypoxia on the proliferation of nucleus pulposus-derived mesen-chymal stem cells ( NPMSCs) in vitro and explore its possible mechanism .Methods NPMSCs were isolated from nucleus pulposus of Sprague-Dawley rats.Cellular morphology was observed and expression of CD 11b, CD45, CD73, CD90 and CD105 was detected using flow cytometry .The third generation NPMSCs were cultured under nor-moxia (20%O2) and hypoxia (2%O2) for 14 days.Cell viability was determined by the annexin-V-FITC/propidi-um iodide doublestaining assay and cell proliferation was measured by MTT assay .The expressions of hypoxia-in-ducible factor-1α( HIF-1α) , glucose transporter 1( GLUT-1) , vascular endothelial growth factor ( VEGF) , silent information regulator protein 1( SIRT1) and silent information regulator protein 6 ( SIRT6) at the mRNA level were examined by semi-quantitative reverse transcription polymerase chain reaction ( RT-qPCR ).Results NPMSCs formed sunflower-like colony and the third passage NPMSCs became homogeneous and exhibited spindle -like mor-phology .Meanwhile , high expression level of stem cell-related positive antigen molecules and low expression levels of negative antigen molecules .Hypoxia promoted proliferation of NPMSCs and promoted gene expression of HIF-1α, GLUT-1, VEGF, SIRT1 and SIRT6 significantly(P<0.05).Conclusions Hypoxia has a significant impact on the proliferation of NPMSCs and SIRT 1, SIRT6 mediated HIF-1αpathway is potentially involved in the mechanism .

13.
Chinese Journal of Tissue Engineering Research ; (53): 5655-5660, 2017.
Artículo en Chino | WPRIM | ID: wpr-663975

RESUMEN

BACKGROUND: This team modified the arthroscopic reduction and internal fixation with canulated screw through very high-posteromedial portal approach to perform direct compression. Thus, the pressure of the fracture block is evenly distributed on the healing line, and the operation is convenient and fixed firmly, but its clinical effect remains to be further confirmed. OBJECTIVE: To compare the clinical outcome of arthroscopic reduction and internal fixation with canulated screw through very high-posteromedial portal approach and double bundle suture fixation for avulsion fracture of the tibial attachment of posterior cruciate ligament. METHODS: From January 2011 to May 2017, 60 cases of the avulsion fracture of posterior cruciate ligament (transverse diameter of fracture block > 10 mm) were treated operatively at the Orthopedics and Arthroscopic Ward Two, First Hospital of Qinhuangdao, China. According to different modes of operation in different periods, patients were assigned to two groups. In the canulated screw group (n=31), patients were treated with canulated screw through very high-posteromedial portal approach. In the suture group (n=29), patients were treated with double bundle suture fixation through posteromedial portal approach. General conditions were compared between the two groups. Knee function was assessed with the Intemational Knee Documentation Committee and Lysholm scores. Knee stability was evaluated with KT-2000 and posterior drawer test. RESULTS AND CONCLUSION: (1) All the patients were followed up (range 6-12 months). (2) The average operation time was (63.49±3.97) minutes in the canulated screw group and (87.28±3.46) minutes in the suture group (P < 0.05). At 3 months after surgery, all the patients were healed. (3) At the final follow-up, in the canulated screw group, the negative rate of posterior drawer test was 90%. Lysholm scores were 94.89±4.75. IKDC scores were 94.01±3.25. In the suture group, the negative rate of posterior drawer test was 90%. Lysholm scores were 95.56±3.63. IKDC scores were 95.52±4.72. No significant difference was determined between the two groups (P > 0.05). (4) KT-2000 measurement results revealed that there were no significant differences between the surgical knee and the normal knee in both groups (canulated screw group:(2.53±1.02)mm versus(2.12±0.83)mm;suture group:(2.65±0.82)mm versus(2.19±0.63)mm (P > 0.05). Moreover, no significant difference was detected in the affected knee of KT-2000 results between the two groups. (5) Both arthroscopic reduction with canulated screw through very high-posteromedial portal approach and double bundle suture fixation can achieve satisfactory clinical outcomes, but arthroscopic reduction with canulated screw through very high-posteromedial portal approach in patients with fracture block diameter > 10 mm can result in shorter operation time, more reliable fixation, and thus permit an early postoperative functional exercise.

14.
Protein & Cell ; (12): 862-870, 2015.
Artículo en Inglés | WPRIM | ID: wpr-757217

RESUMEN

Mitochondrial genome is responsible for multiple human diseases in a maternal inherited pattern, yet phenotypes of patients in a same pedigree frequently vary largely. Genes involving in epigenetic modification, RNA processing, and other biological pathways, rather than "threshold effect" and environmental factors, provide more specific explanation to the aberrant phenotype. Thus, the double hit theory, mutations both in mitochondrial DNA and modifying genes aggravating the symptom, throws new light on mitochondrial dysfunction processes. In addition, mitochondrial retrograde signaling pathway that leads to reconfiguration of cell metabolism to adapt defects in mitochondria may as well play an active role. Here we review selected examples of modifier genes and mitochondrial retrograde signaling in mitochondrial disorders, which refine our understanding and will guide the rational design of clinical therapies.


Asunto(s)
Animales , Humanos , Núcleo Celular , Genética , ADN Mitocondrial , Genética , Enfermedades Mitocondriales , Genética , Patología , Mutación , Transducción de Señal
15.
Clinical Psychopharmacology and Neuroscience ; : 263-268, 2015.
Artículo en Inglés | WPRIM | ID: wpr-209628

RESUMEN

OBJECTIVE: To analyze the sociodemographic and clinical factors related to anxiety in patients with major depressive disorder (MDD). METHODS: This study involved a secondary analysis of data obtained from the Diagnostic Assessment Service for People with Bipolar Disorders in China (DASP), which was initiated by the Chinese Society of Psychiatry (CSP) and conducted from September 1, 2010 to February 28, 2011. Based on the presence or absence of anxiety-related characteristics, 1,178 MDD patients were classified as suffering from anxious depression (n=915) or non-anxious depression (n=263), respectively. RESULTS: Compared with the non-anxious group, the anxious-depression group had an older age at onset (t=-4.39, p<0.001), were older (t=-4.69, p<0.001), reported more lifetime depressive episodes (z=-3.24, p=0.001), were more likely to experience seasonal depressive episodes (chi2=6.896, p=0.009) and depressive episodes following stressful life events (chi2=59.350, p<0.001), and were more likely to have a family history of psychiatric disorders (chi2=6.091, p=0.014). Their positive and total scores on the Mood Disorder Questionnaire (MDQ) and the 32-item Hypomania Checklist (HCL-32) (p<0.05) were also lower. The logistic regression analysis indicated that age (odds ratio [OR]=1.03, p<0.001), a lower total MDQ score (OR=0.94, p=0.011), depressive episodes following stressful life events (OR=3.04, p<0.001), and seasonal depressive episodes (OR=1.75, p=0.039) were significantly associated with anxious depression. CONCLUSION: These findings indicate that older age, fewer subclinical bipolar features, an increased number of depressive episodes following stressful life events, and seasonal depressive episodes may be risk factors for anxiety-related characteristics in patients with MDD.


Asunto(s)
Humanos , Ansiedad , Pueblo Asiatico , Trastorno Bipolar , Lista de Verificación , China , Depresión , Trastorno Depresivo , Trastorno Depresivo Mayor , Modelos Logísticos , Trastornos del Humor , Factores de Riesgo , Estaciones del Año
16.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 978-984, 2013.
Artículo en Chino | WPRIM | ID: wpr-271630

RESUMEN

<p><b>OBJECTIVE</b>We reported here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA(mtDNA) in a Chinese family with maternally transmitted non-syndromic hearing loss and investigated the influence of the mitochondrial tRNA(Asp) A7551G mutation to the phenotypic manifestation of the deafness.</p><p><b>METHODS</b>One Chinese Han pedigrees of maternally transmitted nonsyndromic hearing loss were collected. The proband and family members underwent clinical, genetic, and molecular evaluations, such as audiological examinations, mutational analysis of mitochondrial genome and mutational analysis of GJB2 gene.</p><p><b>RESULTS</b>Six people of this pedigree suffered from hearing loss, including four matrilineal members, and others did not have significant clinical abnormalities. Sequence analysis of the complete mitochondrial genome in the proband showed that there were 28 mtDNA polymorphisms belonging to East -Asian haplogroup A4.In addition to the A7551G homogeneity mutation, there were no other functionally significant variants found in this family. The A7551G mutation located immediately at the three prime end to the anticodon, corresponding with the conventional position 37 of tRNA(Asp), and its' CI value was 100% compared with other 15 primate species. The A7551G mutation was absent in other Chinese controls. The mutations on GJB2 were detected by direct sequence analysis,GJB2 235delC and 299delAT which was associated with hearing loss were found in the genomic DNA of the proband and some matrilineal members. Clinical evaluation showed a variable phenotype of severity, age-at-onset and audiometric configuration of hearing loss in the matrilineal relatives in these families.</p><p><b>CONCLUSIONS</b>The A7551G mutation may modify the secondary structure of the tRNA, and affect the stabilization of tRNA(Asp), produce non-normal functional tRNA(Asp) ultimately. And it may cause the phenotypic manifestation of the deafness that associated with A7551G mutation. Therefore, the mitochondrial tRNA(Asp) A7551G mutation may be a new mitochondrial mutation for hearing loss.</p>


Asunto(s)
Adulto , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios de Casos y Controles , Conexina 26 , Conexinas , Genética , Análisis Mutacional de ADN , ADN Mitocondrial , Genética , Sordera , Genética , Mutación , Linaje , Fenotipo , ARN Ribosómico , Genética , ARN de Transferencia de Aspártico , Genética
17.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 991-995, 2013.
Artículo en Chino | WPRIM | ID: wpr-271628

RESUMEN

<p><b>OBJECTIVE</b>To assess the possible genotype-phenotype correlation for GJB2.</p><p><b>METHODS</b>Retrospectively analyzed GJB2 gene mutations with non-syndromic hearing impairment (NSHI) patients and their families audiological data. Individuals were grouped, according to non-truncated mutant (non-truncating, NT) and truncating mutations (truncating, T), into T/T group, T/NT group and NT/NT group. And according to whether they carry 235delC, grouped into 235delC/235delC group, 235delC/Non-235del group and Non-235delC/Non-235delC group.</p><p><b>RESULTS</b>Grouped according to whether the truncation mutants:Fisher exact statistical analysis showed that the degree of hearing loss among the three groups did not meet the random distribution (P = 0.003) , T/T group was significantly higher than T/NT group (P = 0.000) and NT/NT group (P = 0.000) on the degree of hearing loss. Grouped according to whether they carry 235delC mutation: degrees of hearing loss among the three groups were statistically significant differences. Respectively pairwise comparisons (Fisher exact test) found 235delC/235delC group was significantly higher than 235delC/Non-235delC on the degree of hearing loss group (P = 0.001) and Non-235delC/Non-235delC group (P = 0.000), 235delC/Non-235delC group higher than Non-235delC/Non-235delC group (P = 0.033). In GJB2 mutations homozygous and compound heterozygous mutation genotype:G109A/G109A, 235delC/512insAACG, 299delAT/G109A and 235delC/G109A degree of hearing loss caused by genotype was significantly lower than 235delC/235delC group.</p><p><b>CONCLUSIONS</b>235delC homozygotes have significantly more hearing impairment, when compared with 235delC/non-235delC compound heterozygotes. People with two non-235delC mutations have even less hearing impairment. Patients with non-truncation mutants (G109A) suffer from lighter hearing loss than truncation mutations(235delC, 299delAT).</p>


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Humanos , Lactante , Recién Nacido , Persona de Mediana Edad , Adulto Joven , Conexina 26 , Conexinas , Genética , Sordera , Genética , Genotipo , Heterocigoto , Mutación , Linaje
18.
Chinese Journal of Plastic Surgery ; (6): 25-28, 2013.
Artículo en Chino | WPRIM | ID: wpr-271249

RESUMEN

<p><b>OBJECTIVE</b>To evaluate the efficacy and security of propranolol gel in treatment of Infantile hemangiomas.</p><p><b>METHODS</b>51 consecutive infants with hemangiomas from October 2010 to September 2011 in Department of General Surgery Fuzhou General Hospital of Nanjing Military Command were treated with propranolol hydrochloride 3% gel. Changes in hemangioma size, texture, color, tumor blood flow peak were recorded.</p><p><b>RESULTS</b>The results were evaluated using Achauer system, responses of IHs to propranolol were considered scale I (poor) in 4 patient (17.24%), scale II (moderate) in 18 patients (24.14%), scale III (good) in 22 patients (44.83%) and scale IV (excellent) in 7 patients (13.79%). The response of superficial hemangiomas was significantly better than other hemangiomas (P < 0.05), and no significant differences in response among different primary sites (P > 0.05).</p><p><b>CONCLUSIONS</b>Topical use of propranolol hydrochloride 3% gel is an effective option for superficial hemangiomas.</p>


Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Masculino , Hemangioma Capilar , Quimioterapia , Hidrogeles , Propranolol , Usos Terapéuticos , Neoplasias Cutáneas , Quimioterapia , Resultado del Tratamiento
19.
Acta Physiologica Sinica ; (6): 333-340, 2012.
Artículo en Chino | WPRIM | ID: wpr-333193

RESUMEN

It has been shown that mitochondria not only control their own Ca(2+) concentration ([Ca(2+)]), but also exert an influence over Ca(2+) signaling of the entire cell, including the endoplasmic reticulum or the sarcoplasmic reticulum, the plasma membrane, and the nucleus. That is to say, mitochondria couple cellular metabolic state with Ca(2+) transport processes. This review focuses on the ways in which the mitochondrial Ca(2+) handling system provides integrity and modulation for the cell to cope with the complex actions throughout its life cycle, enumerates some indeterminate aspects about it, and finally, prospects directions of future research.


Asunto(s)
Transporte Biológico , Señalización del Calcio , Membrana Celular , Fisiología , Retículo Endoplásmico , Fisiología , Mitocondrias , Fisiología , Retículo Sarcoplasmático , Fisiología
20.
Acta Physiologica Sinica ; (6): 481-488, 2012.
Artículo en Chino | WPRIM | ID: wpr-333175

RESUMEN

Although the basic principles for the function of peripheral auditory system have been known for many years, the molecular mechanisms which affect deafness are not clear. In recent years, the study of hereditary deafness associated mouse models has revealed the molecular basis which is related with the formation and function of the hair bundle and the mechanosensory organelle of hair cell. This review focused on the role of protein network, which is formed by the proteins encoded by the Usher syndrome type 1 genes, in hair-bundle development and mechanotransducer channel gating. And the review also showed how the stereocilia rootlets contribute to the hair bundle's mechanical properties and how the hair bundle produces suppressive masking. Finally, the review revealed multiple roles of the tectorial membrane and extracellular matrix in the hair bundles stimulating in the cochlea.


Asunto(s)
Animales , Humanos , Ratones , Cóclea , Modelos Animales de Enfermedad , Matriz Extracelular , Fisiología , Células Ciliadas Auditivas , Patología , Pérdida Auditiva Sensorineural , Genética , Mecanotransducción Celular , Síndromes de Usher , Genética
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA