ABSTRACT
BACKGROUND@#Brachydactyly, a developmental disorder, refers to shortening of hands/feet due to small or missing metacarpals/metatarsals and/or phalanges. Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. BDE is often accompanied by other anomalies that are parts of many congenital syndromes. In this study, we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature.@*METHODS@#A four-generation Chinese family was recruited in June 2016. After informed consent was obtained, venous blood was collected, and genomic DNA was extracted by standard procedures. Whole-exome sequencing was performed to screen pathogenic mutation, array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations, and quantitative real-time polymerase chain reaction (PCR), stride over breakpoint PCR (gap-PCR), and Sanger sequencing were performed to confirm the candidate variation.@*RESULTS@#A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this family. The deletion region encompasses 23 annotated genes, one of which is PTHLH which has been reported to be causative to the BDE. PTHLH is an important regulator of endochondral bone development. The affected individuals showed bilateral, severe, and generalized brachydactyly with short stature, pectus carinatum, and prematurely fusion of epiphyses. The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously.@*CONCLUSIONS@#The haploinsufficiency of PTHLH might be responsible for the disease in this family. This study has expanded the knowledge on the phenotypic presentation of PTHLH variation.
ABSTRACT
Background@#Brachydactyly, a developmental disorder, refers to shortening of hands/feet due to small or missing metacarpals/metatarsals and/or phalanges. Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. BDE is often accompanied by other anomalies that are parts of many congenital syndromes. In this study, we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature.@*Methods@#A four-generation Chinese family was recruited in June 2016. After informed consent was obtained, venous blood was collected, and genomic DNA was extracted by standard procedures. Whole-exome sequencing was performed to screen pathogenic mutation, array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations, and quantitative real-time polymerase chain reaction (PCR), stride over breakpoint PCR (gap-PCR), and Sanger sequencing were performed to confirm the candidate variation.@*Results@#A 3.06-Mb deletion (chr12:25473650–28536747) was identified and segregated with the phenotype in this family. The deletion region encompasses 23 annotated genes, one of which is PTHLH which has been reported to be causative to the BDE. PTHLH is an important regulator of endochondral bone development. The affected individuals showed bilateral, severe, and generalized brachydactyly with short stature, pectus carinatum, and prematurely fusion of epiphyses. The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously.@*Conclusions@#The haploinsufficiency of PTHLH might be responsible for the disease in this family. This study has expanded the knowledge on the phenotypic presentation of PTHLH variation.
ABSTRACT
Objective To optimize the processes of extraction and inclusion of volatile oil from Citri Grandis Exocarpium. Methods With yield ratio of volatile oil as evaluation index, single factor experiments were used to study the extraction process of volatile oil. With the inclusion rate of the volatile oil and the yield of inclusion as evaluation indexes, saturated aqueous solution was used to the L9(34) orthogonal experiments to reach the best inclusion process optimization. And the microscopic imaging analysis and X-ray scattering technology were adopted to character the inclusion compound. Results The optimum extraction process of volatile oil was extracted for 10 hours with 10 folds the amount of water, and without soaking. The optimum conditions of inclusion process were as follows: volatile oil (mL): β-CD (g): water (mL) ratio was 1:8:80; inclusion temperature was 50 ℃; inclusion time was 3 hour. The validation experiments of the inclusion rate of the volatile oil and the yield of inclusion were 91.50% and 88.36%. Microscopic imaging analysis and X-ray scattering technology proved the inclusion compound had been formed. Conclusion Optimal extraction and inclusion process are feasible and stable, which can provide certain supporting data for preparation and production.
ABSTRACT
Objective To explore the clinical characteristics and molecular diagnosis of 4H syndrome.Methods The clinical data of 1 patient with 4H syndrome diagnosed by gene was retrospectively analyzed , and the clinical characteristics were analyzed combined with the literature .Results This child patient was male , 6 years and 8 months old, with hands shake for 1 years, mental and movement development backwardness , walking instability, teething delay .Ophthalmic examination showed myopia and optic atrophy .Brain MRI suggested a wide range of cerebral white matter lesions on both sides of the cerebral hemisphere .Gene examination showed POLR3A compound heterozygous mutation (c.1781T>G,c.2693delT).He was diagnosed as 4H syndrome.Conclusions The early manifestations of 4H syndrome are mental and movement development backwardness and teething delay .The main clinical features of 4H syndrome are leukodystrophy, myopia and ataxia.The genetic characteristics are POLR3A or POLR3B mutation.
ABSTRACT
Objective To optimize the processes of extraction and inclusion of volatile oil from Citri Grandis Exocarpium. Methods With yield ratio of volatile oil as evaluation index, single factor experiments were used to study the extraction process of volatile oil. With the inclusion rate of the volatile oil and the yield of inclusion as evaluation indexes, saturated aqueous solution was used to the L9(34) orthogonal experiments to reach the best inclusion process optimization. And the microscopic imaging analysis and X-ray scattering technology were adopted to character the inclusion compound. Results The optimum extraction process of volatile oil was extracted for 10 hours with 10 folds the amount of water, and without soaking. The optimum conditions of inclusion process were as follows: volatile oil (mL): β-CD (g): water (mL) ratio was 1:8:80; inclusion temperature was 50 ℃; inclusion time was 3 hour. The validation experiments of the inclusion rate of the volatile oil and the yield of inclusion were 91.50% and 88.36%. Microscopic imaging analysis and X-ray scattering technology proved the inclusion compound had been formed. Conclusion Optimal extraction and inclusion process are feasible and stable, which can provide certain supporting data for preparation and production.
ABSTRACT
Objective To study the influence of follower load on contact force of facet joints under various postures of lumbar spine. Methods A 3D nonlinear finite element model of lumbar spine (L1-S1) was developed, with consideration of the non-uniform thickness and nonlinear material properties of the cartilage layer in facet joints. The model was then applied with different follower preload (0, 0.5, 0.8, 1.2 kN), under pure moment of 7.5 N•m in different directions (flexion, extension, lateral bending, extension and torsion). The contact forces of facet joints on the two sides of each segment under different loading conditions were compared. The asymmetry influence of follower load on contact force of facet joints was also quantitatively studied. Results The follower preload increased the facet force under flexion-extension and bending (ipsilateral), while decreased the force on the contralateral facet under lateral bending. All the effects of follower load on facet force became weaker with the increase of preload. For torsion loading, the preload had almost no effect on facet force. The greatest asymmetry influence of follower load on facet force was under bending (the ipsilateral side), followed by flexion, bending (contralateral side), extension and torsion. Conclusions The follower load shows obviously different effects on contact force of facet joints with different postures. The asymmetry of facet joints should be fully considered in biomechanical studies of lumbar spine, especially in studies on post-structures of lumbar spine under physiological loads.
ABSTRACT
The clinical application of surgical robot was introduced historically, comprehensive description was executed on its research progress in foreign countries and China, planning and skill modeling, clinical application and development trend, and the clinical application of Da Vinci surgical system was described particularly. It's pointed out that universal surgical robot, autonomous surgical robot and micro/nano surgical robot would flourish in the future. Kinds of surgical robots applied clinically contributed to healthcare service greatly.
ABSTRACT
Purpose To report a rare case of renal rhabdoid synovial sarcoma and review the literature,in order to improve the realization for this disease and reduce misdiagnosis.Method The clinicopathological data of 1 case rhabdoid renal synovial sarcoma were retrospectively analyzed.The tumors were examined by immunohistochemical of EnVision two-step staining and FISH,the related literatures were reviewed.Result A 31-year-old male patient accepted the right kidney radical operation in November 2014 after imaging examination of right kidney tumor.Microscopically,the tumor cells showed short spindle cells with rich cytoplasm and eosinophilic bodies in the cytoplasm.The pathological diagnosis is the renal rhabdoid tumor for this time.The patient was found a tumor between the liver and the diaphragm by imaging examination in October 2015.The second operation was carried out successfully.Microscopically,the tumor cells were spindle with little cytoplasm and without eosinophilic bodies in the cytoplasm.It was a typical synovial sarcoma in morphology for this time.Immunohistochemical staining showed positive for vimentin,EMA,CD56,and TLE1,SS18SSX fusion gene was disclosed in the primary and recurrent tumor cells,it was therefore corrected as rhabdoid synovial sarcoma for the primary tumor.Conclusion Renal rhabdoid synovial sarcoma is rare.Renal primary rhabdoid synovial sarcoma is easily misdiagnosed as renal rhabdoid tumor.The renal rhabdoid synovial sarcoma has broadened the differential diagnosis of renal rhabdoid tumors spectrum.Even for a tumor with typical rhabdoid morphology,molecular biology method for differential diagnosis is needed.SS18-SSX fusion gene is the basis for diagnosis of synovial sarcoma.
ABSTRACT
Abdominal obesity is a core factor in and necessary condition of diagnosing metabolic syndrome. Abdominal fat contains two parts: subcutaneous fat and visceral fat. Both are related to hypertension, impaired fasting blood glucose, diabetes and metabolic syndrome. Current studies often focus on visceral fat, but subcutaneous fat accumulation also has an inseparable relationship. Physical and chemical changes in abdominal fat cells result in abdominal fat thickening and density increase and cause changes in secretion of adipokines in this process. The common action of the two aspects leads to a number of metabolic problems. The sanjiao dysfunction brings about abdominal accumulation of phlegm, heat and stagnant turbidity and infiltration of them into blood vessels, which are the basic pathogenesis of metabolic syndrome. Abnormal Dai Meridian function plays a key role in this process. Unblocking and regulating the Dai Meridian as a core means, promoting functional activities of qi in the whole body and especially in the middle jiao and restoring the sanjiao function help the clinical treatment of metabolic syndrome.
ABSTRACT
Objective To explore the clinical characteristics and molecular diagnosis of 4H syndrome.Methods The clinical data of 1 patient with 4H syndrome diagnosed by gene was retrospectively analyzed , and the clinical characteristics were analyzed combined with the literature .Results This child patient was male , 6 years and 8 months old, with hands shake for 1 years, mental and movement development backwardness , walking instability, teething delay .Ophthalmic examination showed myopia and optic atrophy .Brain MRI suggested a wide range of cerebral white matter lesions on both sides of the cerebral hemisphere .Gene examination showed POLR3A compound heterozygous mutation (c.1781T>G,c.2693delT).He was diagnosed as 4H syndrome.Conclusions The early manifestations of 4H syndrome are mental and movement development backwardness and teething delay .The main clinical features of 4H syndrome are leukodystrophy, myopia and ataxia.The genetic characteristics are POLR3A or POLR3B mutation.
ABSTRACT
The 40-year experiences in the clinical application of eye acupuncture in our hospital are summarized. The manipulation of needle insertion, withdrawal and puncture procedure is analyzed. The keys of the techniques of eye acupuncture are explained. The basic needling manipulations are determined. In the insertion of needle, professor Peng stressed on the stability, accuracy and fast, without lifting, thrusting, rotating, and opening/closing techniques involved. TIAN Wei-zhu emphasizes the gentle insertion, pain avoiding, apparent needling sensation and needling sensation transmission. In terms of acupuncture operation, skin stretching, patient's attention shifting, quick insertion of needle and slow-down moving of needle body are required. The outside orbit transverse needling method is recommended basically.
Subject(s)
Humans , Acupuncture Therapy , Methods , Eye , Needles , SensationABSTRACT
<p><b>OBJECTIVE</b>To study effects of different intraabdominal pressure of carbon dioxide (Cq2) pneumoperitoneum on hemorrheology and microcirculation in rabbits.</p><p><b>METHODS</b>Eighteen female healthy rabbits weighing 2.2 kg to 3.5 kg were randomly divided into three groups equally based on pneumoperitoneum pressure: 0 mmHg group (group I),10 mmHg group (group II) and 15 mmHg (group III). Each group received 1 h pneumoperitoneum under different pressure. Blood samples were taken at 5 min before CO2 pneumoperitoneum, at 30 and 60 min after pneumoperitoneum for the measurements of indexes of hemorrheology. Hemodynamics including heart rate (HR), mean arterial pressure (MAP) and the volume and velocity of the microcirculation of auricle were continuously monitored, such indexes were recorded at the related time.</p><p><b>RESULTS</b>Afer pneumoperitoneum at 30 and 60 min, compared with group I, HR, MAP, the whole blood viscosity, the aggregation and rigid indexes of RBC were significantly raised in group II (P < 0.05), the deformability indexes of RBC, the volume and velocity of the microcirculation were markedly decreased (P < 0.05). Even more significant changes were observed in group III (P < 0.01). The plasma viscosity and the hematocrit changed little.</p><p><b>CONCLUSION</b>After CO2 pneumoperitoneum, hemorrheology is decreased; Although HR, MAP are raised, the volume and velocity of the microcirculation are decreased.</p>
Subject(s)
Animals , Female , Rabbits , Abdomen , Blood Viscosity , Carbon Dioxide , Hematocrit , Hemorheology , Microcirculation , Pneumoperitoneum, Artificial , Methods , PressureABSTRACT
<p><b>OBJECTIVE</b>To explore the risk factors related to the formation of myocardial fatty infiltration and possible pathological consequences.</p><p><b>METHODS</b>The macroscopic and microscopic findings in 117 autopsy cases with myocardial fatty infiltration were examined during October, 2001 to June, 2009.</p><p><b>RESULTS</b>There was a significant positive correlation between the macroscopic grading of subepicardial adipose tissue and the microscopic myocardial fatty infiltrative degree(r(s) = 0.57, P < 0.01) but there was no correlations between the myocardial fatty infiltrative degree and age as well as coronary arteriosclerosis (all P > 0.05). The percent of myocardial atrophy was 39.32% (46/117), and the rate of myocardial atrophy in mild myocardial fatty infiltration group (13/63, 20.63%) was significantly lower than that in moderate myocardial fatty infiltration group (22/39, 34.92%; chi(2) = 12.14, P < 0.01) and in severe myocardial fatty infiltration group (11/15, 73.33%; chi(2) = 13.42, P < 0.01). There were 28 sudden cardiac deaths among the 117 cases including 6 deaths due to myocardial fatty infiltration.</p><p><b>CONCLUSIONS</b>Myocardial fatty infiltration is often associated with myocardial atrophy, even with sudden cardiac death but is not an accompanying pathologic changes of aging and coronary arteriosclerosis.</p>
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Adipose Tissue , Pathology , Cardiomyopathies , Pathology , Heart Ventricles , Pathology , Myocardial Infarction , Pathology , Myocardium , PathologyABSTRACT
<p><b>OBJECTIVE</b>To study the pathologic findings seen in lethal cases due to accidental electrocution.</p><p><b>METHODS</b>The macroscopic and microscopic findings in 16 autopsy cases died of electrocution encountered during the period from January, 2001 to July, 2008 were retrospectively reviewed.</p><p><b>RESULTS</b>Typical electric marks were found on gross examination in 5 of the 16 cases studied. Histologically, 11 of the 16 cases showed evidence of electric burn. The morphologic features of atypical electric marks varied. Simple epidermal exfoliation and color changes were relatively common. Pathologic changes in internal viscera included disarray of myocardial fibers. Rupture of myocardial fibers was readily identified than in non-electrocution death. Sometimes, focal interstitial hemorrhage and polarization of endothelial cells were seen.</p><p><b>CONCLUSIONS</b>The electric marks on the skin, as confirmed by histologic examination, remain important sequelae of electrocution. The pathologic changes seen in myocardium provide additional clues to the diagnosis.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Autopsy , Burns, Electric , Pathology , Electric Injuries , Pathology , Myocardium , Pathology , Retrospective Studies , Skin , PathologyABSTRACT
OBJECTIVE@#To study the histopathological changes in drug-related death cases in order to provide valuable information for its diagnosis.@*METHODS@#Thirty cases of drug-related death were collected for systemic autopsy and histopathology examination. Ante mortem history and other informations of each case were also reviewed and analyzed.@*RESULTS@#Injection marks, emaciation, asphyxia and histopathological changes in critical organs and tissues correlated with addiction behavior. In the 30 cases, 20% died of diseases, 33.3% acute drug intoxication, 26.7% quitting drug, 10% sudden death, and 10% outside violence.@*CONCLUSION@#Systemic autopsy and histopathology examination in drug-related death are useful for determination of the cause of death in these cases.
Subject(s)
Adult , Female , Humans , Male , Autopsy , Cause of Death , Forensic Pathology , Substance-Related Disorders/pathologyABSTRACT
@#Objective To observe the effect of rehabilitation on unilateral spatial neglect(USN) in stroke patients with hemiplegia.Methods 42 stroke patients with hemiplegia and USN accepted several kinds of rehabilitation therapies for 8 weeks.Before and after the treatment,they were assessed with 4 kinds of USN assessments,Barthel Index and National Institutes of Health Stroke Scale(NIHSS).Results After the treatments,the scores of the Barthel Index and the NIHSS had obviously improved,while the abnormal ratio emerged through the 4 kinds of USN assessments obviously decreased.Conclusion Rehabilitation can improve the activity of daily living and promote the recovery of neural function of patients with USN after stroke.
ABSTRACT
<p><b>OBJECTIVE</b>To observe effect of acupuncture on hemiplegia spasticity of the patient with stroke and to probe an effective acupuncture method for treatment of the hemiplegia spasticity.</p><p><b>METHODS</b>Ninety-six cases of hemiplegia spasticity were randomly divided into a common acupuncture group, and a balance yin-yang acupuncture group. All the patients were treated with routine medicine and rehabilitation training. In the common acupuncture group, traditional acupoint selection method was used with the acupoints on the yang channels such as Jianyu (LI 15), Quchi (LI 11), Shousanli (LI 10) selected; in the balance yin-yang acupuncture group, the acupoints on the yin channels and the yang channels were combined, with Jiquan (HT 1), Chize (LU 5), Shaohai (HT 3) etc. selected, according to the TCM theory of yin for chronic and yang for acute and imbalance of muscular tension between the extensor and flesor in the patient of hemiplegia. Before and after treatment, neurological defect scoring criterion, modified Ashworth, daily living ability (ADL-Barthel index) and SIAS were respectively used for evaluation of the therapeutic effects.</p><p><b>RESULTS</b>Acupuncture could significantly improve spastic dyskinesia of the patient of hemiplegia due to stroke and increase daily living ability. After treatment, the neurological defect score was 16.56 +/- 7.97, ADL-Barthel index was 57.20 +/- 12.80 in the treatment group, and 21.62 +/- 7.17, 30.66 +/- 11.34 in the control group, with very significant differences (both P < 0.001).</p><p><b>CONCLUSION</b>Acupuncture can improve spastic dyskinesia of the patient of hemiplegia due to stroke and increase daily living ability, but different needling methods have different effects.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Acupuncture Therapy , Methods , Hemiplegia , Therapeutics , Medicine, Chinese Traditional , Stroke , TherapeuticsABSTRACT
Objective To construct the recombinant plasmid carrying shRNA to ATX and analyze the nucle- ic acid sequence for further searching new gene therapy method of tumor.Methods Two DNA sequences containing short hairpin structure were designed and synthesized.The complement form was obtained by annealing and inserted into vector Psilcncer2.1-U6 neo,and the recombinant plasmid was transformed into DH5a strain.Finally the plasmid identified by restriction enzyme was used for sequence analysis.Results The recombinant Psileneer2.1-U6 neo car- rying shRNA to ATX had been constructed and the aim sequence had been obtained.Conclusion The construction of the recombinant plasmid carrying shRNA to ATX lays the basis for the study of its inhibitive effect on tumor.
ABSTRACT
OBJECTIVE:To improve the efficiency and quality of adverse drug reaction(ADR)monitoring in China.METHODS:The current situation,existing difficulties,as well as problems yet to be solved in the construction of informa-tionalized reporting system of ADR in our country were discussed.RESULTS&CONCLUSION:The management software at national,provincial and individual levels should be developed.Also,The data collection should be improved for variety,quickness,and timeliness as well as modularization and expansion.