Genetic analysis of 10 children with cerebral palsy / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of cerebral palsy (CP).@*METHODS@#A pair of twins with cerebral palsy and different phenotypes were subjected to whole genome sequencing, and other 8 children with CP were subjected to whole exome sequencing. Genetic variations were screened by a self-designed filtration process in order to explore the CP-related biological pathways and genes.@*RESULTS@#Three biological pathways related to CP were identified, which included axon guiding, transmission across chemical synapses and protein-protein interactions at synapses, and 25 susceptibility genes for CP were identified.@*CONCLUSION@#The molecular mechanism of CP has been explored, which may provide clues for development of new treatment for CP.

The research progress of unilateral enlargement of the vestibular aqueduct / 临床耳鼻咽喉头颈外科杂志

Unilateral enlargement of the vestibular aqueduct (EVA)is a relatively rare disease. Bilateral EVA was found to be more common than unilateral EVA. There are significant differences in clinical features and molecular etiology between unilateral EVA and bilateral one. This article reviewed related researches of the unilateral EVA in clinical characteristics, molecular etiology and pathogenic mechanism.

Development of physical penetration enhancement technology for Chinese medicine transdermal drug delivery / 国际生物医学工程杂志

Transdermal drug delivery is an important medicine delivery methodology in Chinese medicine, and the core procedure of which is to get the effective components of medicine into the body through the skin barrier successfully.Physical penetration enhancement is an important method to promote the transdermal delivery of Chinese medicine, which by physically changing certain properties of the skin or medicine in order to promote the transdermal absorption.Physical penetration enhancement is mainly via sound, light, electricity, magnet, and micro needle technology applications by the corresponding equipment.Chinese medicine transdermal technology is mainly through the skin absorption and acupoint stimulating absorption.The focus of this review is trying to predict the development direction of transdermal drug equipment in Chinese medicine by analyzing the transdermal drug delivery technology and pathway.

Qi-deficiency Identification Means and Methods with NIRS Technique Application in SaO2 Acquisition and Relevant Information Quantification / 世界科学技术-中医药现代化

This article summarized the technique research and application status of near-infrared spectroscopy (NIRS), in order to explore hypoxia,qi-deficiency and their connections with typical symptoms. It also discussed NIRS acquired oxygen saturation (SaO2) and its relevant means and methods for information quantification ofqi-deficiency. The accurate obtained SaO2 value was applied in the association with the strength of chest distress in the subjective sensation due toqi-deficiency. According to current data, the normal value,qi-deficiency degree and uncomfortable degree of subjective sensation among patients of different altitudes and ages were summarized. It can be applied to assist TCM physicians in the quick quantification of qi-deficiency.

Significance of monitoring indexes of coagulation and fibrinolytic before and after delivery / 国际检验医学杂志

Objective To investigate the significance of detection of blood coagulation and fibrinolytic indexes before and after delivery.Methods 212 cases in the postpartum hemorrhage group(bleeding amount ≥500 mL)and 235 cases in the normal deliver-y group were retrospectively analyzed.The prothrombin time(PT),international normalized ratio(PT-INR),activated partial throm-boplastin time(APTT),thrombin time(TT),fibrinogen(FIB),D-dimer(DD),blood platelets(PLT)and hemoglobin(HB)were de-tected before delivery and at 72 h after delivery.85 women with the physical examination were selected as the healthy group.Results Before delivery,PT/PT-INR,APTT,TT,PLT and HB in the normal delivery group were lower than those in the healthy group, while FIB and DD were higher than those in the healthy group;PT/PT-INR,APTT,TT and DD in the postpartum hemorrhage group were higher than those in the normal delivery group,while FIB and PLT were lower than those in the normal delivery group. At 72 h after delivery,there was no statistically significant differences in PT/PT-INR,APTT,TT and DD between the normal de-livery group and the healthy group(P >0.05),but FIB was higher than that in the healthy group;PT/PT-INR,APTT,TT and DD in the postpartum hemorrhage group were higher than those in the normal delivery group,while FIB,PLT and HB were lower than those in the normal delivery group.Conclusion Dynamically monitoring the change of the blood coagulation and fibrinolysis indexes before and after delivery has important significance in preventing postpartum hemorrhage and thrombosis.

Investigation of SLC26A4 mutations associated with inner ear malformations / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS.@*METHOD@#DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ear malformations excluding IVAS probands. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. GJB2 gene and also mt12SrRNA were analyzed by direct sequencing.@*RESULT@#In 14 cases of LVAS, two mutations were detected in 12 patients (85.7%, either homozygous or compound heterozygous mutations), and one mutation was found in two patients (14.3%). In six cases of Mondini dysplasia, two mutations were detected in all of patients (100%). No mutation could be found in the seven cases of other inner ear abnormalities not accompanied with LVAS. No pathogenic mutation was detected in all of these 27 probands in GJB2 gene and mt12SrRNA 1555/1494T.@*CONCLUSION@#We have shown that LVAS and Mondini dysplasia closely correlate with SLC26A4 gene. No mutation was detected in seven probands of inner ear malformations not accompanied with LVAS. We should study the molecular pathogenesis of this disease in depth.

Short-term Modulation of Scalp Acupuncture on Cortical Excitability and Motor-related Cortical Potential / 世界科学技术-中医药现代化

This study was aimed to investigate short-term modulation mechanism of scalp acupuncture according to the experimentation of cortical excitability and motor-related cortical potentials in ten normal volunteers.Through scalp needle stimulation in specific theoretical areas related to underlying cerebral surfaces,scalp acupuncture can be used as an effective therapy by changes in relative cerebral function,which is the basic principle.According to the available neurophysiological data in our study,the modulation of scalp acupuncture displayed in late part of motor-related cortical potential noticed mainly in the motor and sensory cortexes,contralateral to the needle stimulate site.Also,acupuncture can develop inhibition at longer interstimulus intervals,in paired pulse magnetic stimulation,from the somatosensory input of contralateral sensory cortex via scalp needle stimulation.In our study,it might be difficult to produce more acupuncture inhibition.The maintaining of scalp needles subcutaneously without other management after achieving needling sensations cannot achieve the requested strength of the acupuncture stimulation.

NX-8-type pulse information acquisition and analysis system and its application / 国际生物医学工程杂志

With the development of translational medicine,medical equipment has become a booster of clinical and basic research,and the visualization of the Chinese traditional pulse diagnosis apparatus,NX-8-type pulse information acquisition and analysis system achieved the digital pulse diagnosis and sublimated the method of diagnosis.By using the visual sensing technology and image acquisition and processing technology,NX-8 displays the B-type ultra-sound images.With the parameter set and added,not only the pulse beat can be seen clearly,as well as border,thickness and deformation,and hens to perform direct analysis of the blood vessel elasticity,but also the objective observing and study of the dual diagnostic pulse,Anti-off pulse and other special physiological structure can be realized.By measuring pulse wave velocity (PWV) and other indicators,NX-8-type pulse information acquisition and analysis system provides diagnosis and significant prevention of arteriosclerosis,hypertension,high cholesterol,angina and other cardiovascular diseases,and is expected to achieve a digital auxiliary diagnostic equipment of traditional Chinese medicine (TCM) Sizhen,and be applied to telemedicine and the field of space science and technology.It is like a milestone in the development of TCM diagnostic techniques.

The Short-term Modulation of Scalp Acupuncture on the Cortical Excitability in Patients with Parkinson's Disease: A Pilot Study / 世界科学技术-中医药现代化

Acupuncture was frequently used for alternative treatments in Parkinson's disease because of its safety,but there was an argument whether acupuncture improves motor symptoms or not.Besides,few electrophysiological studies were designed for acupuncture combined with Parkinson's disease Using the technique of paired transcranial pulse magnetic stimulation,we measured the excitability of corticocortical inhibitory circuits to investigate effects of scalp acupuncture from 9 patients with Parkinson's disease.Although patients didn't take any short-term benefit in motor symptoms through the treatment of scalp acupuncture,there was no any adverse event,and some electrophysical effects developed in patients.The enhanced corticocortical inhibition on motor cortex possibly developed at longer interstimulus intervals,and there was a relatively increase in later part of motor-related cortical potentials on the central part and right-side near vertex around over sensory cortex,but was not significant in early potentials.So a further long-term study is essential to ascertain the physical mechanism and clinical effects in scalp acupuncture.

GJB6 gene mutation analysis in Chinese nonsyndromic deaf population / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the contribution of GJB6 gene (encoding connexin 30) mutation in Chinese population with sporadic non-syndromic hearing impairment.@*METHOD@#Three hundred and seventy-two nonsyndromic hearing impairment patients and 182 normal controls were first tested for GJB6 del(GJB6 > D13S1830) using specific PCR primers. Then PCR was performed with a pair of primer flanking the whole coding sequence of GJB6 gene. Sequencing of GJB6 whole coding sequence PCR products was subsequently applied in all subjects with hearing loss and normal controls.@*RESULT@#None of the patients and normal controls carried GJB6 del (GJB6 > D13S1830). Two single base pair changes were detected , one in the patient group and the other in the control group. The mutation found in the patient group was not detected in the control subjects.@*CONCLUSION@#Mutation of GJB6 gene is not frequent in Chinese non-syndromic hearing-loss population. Screening for GJB6 gene can be ranked as unconventional deaf gene test in China temporarily.

Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the prevalence of an A-to-G mutation at nucleotide 1555 of the mitochondrial genome in patients with nonsyndromic hearing impairment (NSHI) of northwest region of China.@*METHOD@#A standardized program of epidemiological design, administrative support, sample collection and mutation screening for mtDNA 12SrRNA A1555G were used performed to study the general condition and the molecular etiology of patients with severe to profound hearing loss from 5 provinces of northwest region of China.@*RESULT@#Five-hundred-seventy-three cases with severe profound hearing loss from 5 provinces were collected and 31 cases were found to carry mtDNA 12SrRNA A1555G mutation.@*CONCLUSION@#Among the patients with severe to profound hearing loss from 5 provinces of northwest region, there was a high proportion of hereditary hearing impairment caused by mtDNA 12SrRNA A1555G mutation. Screening and testing for this mutation are effective methods to prevent ototoxicity in A1555G carriers and their maternal family members.

Genotypic and phenotypic analysis of SLC26A4 gene in deaf patients of Chifeng area by whole gene sequencing strategy / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate the genetic causes of deaf patients in a special educational school of Chifeng city, Inner Mongolia by SLC26A4 whole gene sequencing. This study focused on analyzing mutations of coding sequence of SLC26A4 gene and their relevant phenotype. METHODS DNA were extracted from peripheral blood of 134 deaf patients of Chifeng special educational school and 100 normal hearing controls in Northern China. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. All individuals found with SLC26A4 mutation were given temporal bone CT scan, and those with confirmed enlarged vestibular aqueduct and/or other malformation of inner ear were then given further ultrasound scan of thyroid and thyroid hormone assays. RESULTS The sequencing results revealed 32 cases carried SLC26A4 mutation. Twenty-nine cases underwent temporal bone CT scan. Twentycases were confirmed to have malformation of inner ear by CT scan (eighteen were EVA, one was EVA and other inner ear malformation and one was Mondini Syndrome). The shape and function of thyroid were confirmed to be normal by ultrasound scan of thyroid and thyroid hormone assays in nineteen of these 20 patients except one who had cystoid change in the right side of thyroid. Twelve types of novel variants of SLC26A4 gene were found. CONCLUSION Byscreening SLC26A4 gene coupled with temporal bone CT scan ,we could determine genetic cause related to this gene up to 14.93 % of deaf patients in special educational school of Chifeng city. SLC26A4 is another common gene besides GJB2 that cause deafness in this area. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.

Study on the relationship between cyclical power of radial artery motion and pulse force / 中华中医药杂志

Objective:To study the relationship between different pulse forces and cyclical power(CP)of radial artery motion.Methods:39 patients’and 20 healthy persons’ ECG and pressure sphygmograms were collected synchronously with NX-1 sphygmograph.On the basis of automatic detecting R waves of ECG and FFT analysis of pressure sphygmograms with SPTool of MATLAB 7.0.1,change in frequency domain of radial artery motion with different forces was observed and CP was worked out.Results: There is signifi cant deviation between CP of pulse tracings with different forces(pulse tracings with powerful force〉pulse tracings with normal force〉pulse tracings with weak force).Conclusion: CP of radial artery motion can be used to discriminate pulse force.

Methodology Approach of Pulse Diagnosis Research Based on Complexity Science Theory / 中华中医药杂志

Pulse diagnosis system of traditional Chinese medicine is a complicated nonlinear macrosystem.Directed by complexity science theory,and introduced with idea of complex-simple-complex,the pulse diagnosis message is multidimensionally extracted,analyzed with reduced integration,and integrated with upgrade stage and dimension,according to four kinds of attributes "the Position,the Rate,the Shape,the Force".After the digitization,the new kind of pulses diagnosis instrument is manufactured with this mechanism.

Formulation of the upper limit threshold of fasting urinary calcium to creatinine ratio in healthy premenopausal women in Quzhou,Zhejiang Province / 解放军医学杂志

0.05).Conclusion The upper limit threshold of fasting U-Ca/Cr ratios in healthy premenopausal women is established,which can provide a reference for the bone metabolism of patients on the high-turnover status.