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The development of human organ transplantation technology has brought the hope of rebirth to countless patients with organ failure. Human organ donation and transplantation need the joint efforts of various levels of Red Cross societies, human organ procurement organizations, medical institutions, etc. Medical social workers, as new forces, are gradually playing their own role. By summarizing the professional advantages of medical social work in organ donation after citizen’s death, this paper proposed that medical social workers can provide professional services for donors and their families through practical work, such as clarifying their willingness to donate and providing crisis intervention services to their families, assisting them in completing donation matters and holding farewell ceremonies, and following up and carrying out grief counseling activities. Regarding the problems encountered in practice process, suggestions were proposed to expand the scale of medical social workers and improve their management, increase social awareness of medical social work, and provide all-round support for the implementation of later service.
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Medicine is essentially an anthropology, and the patient role is characterized by integrity and subjectivity. With the progress of science and technology and social development, the contemporary patient role has become alienated. The specific manifestations of patient role alienation were analyzed from four aspects, including the objectification of the patient role and the blurring of the patient boundaries in sociology, the objectification of the patient role and the indexing of patients’ pain in technology, the challenge of patient life and health rights and the alienation of informed consent rights in law, and the instrumentalization of patient role and the fragility of patient subjectivity in economics. This paper proposed that the coordination of technology and humanities, the return to the nature of patients, and the concern for the needs of patients are essential in the development of modern medicine.
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Objective:To study the correlation between the acute-phase characteristics of motor evoked potential (MEP) and severities of spinal cord injury in patients with acute cervical hyperextension injury and central cord syndrome (CCS).Methods:Retrospectively analyzed were the data of 45 patients with acute cervical hyperextension injury and CCS (observation group) who had been admitted to Department of Orthopedics, Tongji Hospital Affiliated to Tongji University from December 2018 to July 2021 and 20 healthy controls. Examination of transcranial magnetic stimulation-induced MEP was performed in patients with CCS and healthy controls using a magpro x100 magnetic stimulator, and recording was conducted in bilateral abductor pollicis brevis (APB). The characteristics of MEP waveform latency, amplitude and motor threshold were described and compared between the healthy control and observation groups; the correlations were analyzed between the MEP latency and the severity of spinal cord injury [American Spinal Injury Association (ASIA) total score and motor function of Upper Extremity Motor Subscores (UEMS)] in the observation group. According to different MEP-induced states, the patients in the observation group were divided into a resting group ( n=19), a facilitation group ( n=18), and a no-waveform group ( n=8). The severity of spinal cord injury (ASIA total score) and the functional independence of the spinal cord (SCIM-Ⅲ score) were compared among the 3 groups to analyze the correlation between the MEP-induced state and the severity of spinal cord injury (ASIA total score). Results:The observation group had a significantly longer MEP latency [(30.16±6.32) ms], a significantly smaller amplitude [(0.54±0.30) mV] and a significantly higher motor threshold [(65%±11%)] than the healthy control group (all P<0.05). The MEP latency in the observation group was significantly correlated with ASIA total score ( r=-0.730, P<0.001) and UEMS ( r=-0.740, P<0.001). The ASIA total score and SCIM-Ⅲ score were significantly different among the 3 groups ( P<0.05), and the MEP-induced state was significantly correlated with the severity of spinal cord injury (ASIA total score) ( r=0.668, P<0.001). Conclusions:In patients with acute cervical hyperextension injury and CCS, the MEP latency is prolonged, the amplitude lowered, and the motor threshold enhanced. The MEP latency is strongly correlated with the severity of spinal cord injury and upper limb motor function. The MEP-induced state is also closely related to the severity of spinal cord injury.
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Objective:To establish a method of measuring the contents of gallic acid, brevifolin, corilagin, geraniin, ellagic acid and rutin in Phyllanthus urinaria L. simultaneously with fingerprint study for analysis. Methods:Phyllanthus urinaria L. was extracted by ultrasound with 50% methanol. Chromatographic separation was performed on a Phenonmenex Luna C18 (4.6 mm×250 mm, 5 μm). The mobile phase consisted of acetonitrile (A) and 0.1% phosphoric acid aqueous solution (B) with gradient elution. The flow rate was 1.0 ml/min. The column temperature was 25 ℃, and the injection volume was 10 μl. The detection wavelength was 270 nm. HPLC fingerprints of Phyllanthus urinaria L. from different habitats was established. PCA and OPLS-DA were used to analyze the differences in chemical components of different habitats. Results:Gallic acid, brevifolin, corilagin, geraniin, ellagic acid and rutin showed good linearity at 0.042 8-0.641 6, 0.033 4-0.501 4, 0.142 2-2.133 1, 0.383 1-5.746 5, 0.063 1-0.946 2 and 0.019 2-0.287 8 μg, respectively. The average recovery rate of them was 103.65%, 96.39%, 101.85%, 95.04%, 98.79% and 98.33%, respectively. The HPLC fingerprints of different habitats contained 14 characteristic common peaks, and six compounds characteristic peaks were identified. PCA analysis showed that the chemical components of Phyllanthus urinaria L. from different habitats were different. Geraniin, ellagic acid and corilagin were screened by OPLS-DA. Conclusions:The method is efficient, accurate and sensitive, which can be used to measure the six components in Phyllanthus urinaria L.. The established HPLC fingerprint of different habitats combined with the measrurement method of six components can be used for the quality control and evaluation of Phyllanthus urinaria L..
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N6-Methyladenosine (m6A) is the most abundant internal modification in eukaryotic mRNA, playing critical role in various bioprocesses. Like other epigenetic modifications, m6A modification can be catalyzed by the methyltransferase complex and erased dynamically to maintain cells homeostasis. Up to now, only two m6A demethylases have been reported, fat mass and obesity-associated protein (FTO) and alkylation protein AlkB homolog 5 (ALKBH5), involving in a wide range of mRNA biological progress, including mRNA shearing, export, metabolism and stability. Furthermore, they participate in many significantly biological signaling pathway, and contribute to the progress and development of cancer along with other diseases. In this review, we focus on the studies about structure, inhibitors development and biological function of FTO and ALKBH5.
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Objective:To investigate the expression of hsa_circ_0019413 in the peripheral blood of patients with primary Sj?gren's syndrome (pSS) and its role in the development of pSS disease.Methods:Microarray screening of circ ribonucleic acid (circRNA) changes was first performed in the peripheral blood of 4 pSS patients and 4 healthy controls. Real-time quantitative reverse transcription polymerase chain reaction (qPCR) was used to verify the difference in the expression of hsa_circ_0019413 in the peripheral blood of 30 pSS patients and 30 controls. By establishing the receiver operating characteristic (ROC) curve, the potential diagnostic value of hsa_circ_0019413 in peripheral blood was analyzed, and the expression level of hsa_circ_0019413 was correlated with the clinical presentations of patients with pSS.Results:① By microarray analysis, 437 circRNAs were differentially expressed between the two groups (FC≥2.0, P<0.05), of which 365 were up-regulated and 72 were down-regulated. ② The expression level of hsa_circ_0019413 in pSS patients was significantly higher than that in healthy controls by qPCR. The difference between the two groups was statistically significant ( P<0.05). It showed that hsa_circ_0019413 in peripheral blood of pSS patients had potential diagnostic value by ROC curve analysis [area under the curve (AUC)=0.883, 95% CI (0.782, 0.984), P<0.01]. ③ The expression level of hsa_circ_0019413 was positively correlated with the ESSDAI, ANA, titer of the pSS patients by correlation analysis ( r=0.721, P=0.012; r=0.625, P=0.040), but not with (immunoglobulin (Ig)G or erythrocyte sedimentation rate (ESR). Conclusion:Hsa_circ_0019413 in the peripheral blood may be involved in the development of pSS and may be a biomarker for the diagnosis of pSS.
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Objective@#To explore the application of endoscopy and clinical effect of endoscopic resection of benign tumor in infratemporal fossa.@*Methods@#The clinical data of 11 patients with benign tumors in infratemporal fossa admitted to the Department of Otorhinolaryngology Head and Neck Surgery and Skull Base Surgery of the Affiliated Hospital of Qingdao University from January 2016 to September 2018 were retrospectively analyzed. There were 6 males and 5 females, with the age ranging from 11 to 63 years old. The main clinical manifestations were pharyngeal foreign body sensation, submaxillary pain, maxillofacial numbness and tongue numbness. Imaging examination showed that the tumor was round and had a clear boundary with the surrounding tissue. All the patients underwent endoscopic surgery. Appropriate surgical approach was selected according to the location of the tumor and its relationship with the internal carotid artery. The endoscopic surgical approaches included trans-oropharyngeal approach in 7 cases, trans-lateral pterygomandibular raphe approach in 1 case and trans-medial pterygomandibular raphe approach in 3 cases. The pathological results, prognosis, complications and relapse of patients were summarized through descriptive statistics.@*Results@#The tumors were completely resected under endoscope in all patients, and there was no significant complication occurred after surgery. The average pain VAS score was 3.1 after surgery and average hospital stay was 5.9 d. The postoperative pathological diagnoses consisted of 6 cases of pleomorphic adenoma, 4 cases of neurilemmoma and 1 case of basal cell adenoma. All patients were followed up regularly from 6 to 39 months without recurrence of tumor.@*Conclusion@#Endoscopic resection of benign tumors in infratemporal fossa has the advantages of minimal damage, rapid recovery, few complications, and definite curative effect, which can be used as an important alternative for surgical treatment of benign tumors.
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Objective@#To analyze the clinical features of respiratory epithelial adenomatoid hamartoma (REAH) in the nasal cavity.@*Methods@#Clinical datas of 23 patients, who were hospitalized in Department of Otorhinolaryngology Head and Neck Surgery, the Affiliated Hospital of Qingdao University, from February 2016 to February 2018 with histopathologically proved REAH in the nasal cavity were reviewed. There were 18 males and 5 females, with the age range from 16 to 71 years old. The most common area, main symptoms, surgical methods and follow-up results were analyzed.@*Results@#The most common area was olfactory cleft (21 cases), and the mainly symptom was nasal congestion (18 cases). All the patients received transnasal endoscopic surgery and had no recurrence during following-up from three months to one year.@*Conclusions@#The most common area of REAH in the nasal cavity is the olfactory cleft. Histopathological result is needed to make a definite diagnosis. Complete surgical resection is the main treatment.
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OBJECTIVE@#To use single nucleotide polymorphism microarray (SNP array) to screen whole genome copy number variations (CNVs) in a fetus with multiple malformation.@*METHODS@#Amniotic fluid sample was subjected to routine G banding chromosomal analysis and CNVs detection, and its parents were tested in order to determine the origin of fetal chromosomal aberration.@*RESULTS@#SNP array has detected a large fragment repetition spanning approximately 16 Mb in the 17q24.2-q25.3 region in the fetus. The karyotype of amniotic fluid was 46,XY,der(21),t(17;21)(q23;p12). The karyotype of the mother was normal, while its father has a karyotype of 46,XY,t(17;21)(q23;p12).@*CONCLUSION@#The large repetition at 17q24.2-q25.3 probably underlies the multiple fetal malformation. Abnormal fetuses carrying apparently balanced chromosomal translocations may harbor CNVs outside the breakpoint regions involved in the rearrangements. SNP array has provided a useful supplement for the conventional G banding karyotyping analysis.
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Humans , Chromosome Banding , Chromosomes, Human , DNA Copy Number Variations , Fetus , Karyotyping , Microarray Analysis , Prenatal Diagnosis , TrisomyABSTRACT
OBJECTIVE@#To explore the value of single nucleotide polymorphism (SNP) array for molecular diagnosis.@*METHODS@#A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.@*RESULTS@#G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.@*CONCLUSION@#SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
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Female , Humans , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 22 , In Situ Hybridization, Fluorescence , Polymorphism, Single NucleotideABSTRACT
Objective@#This study was to investigate the effects of MEHP on isolated rat heart and explore its mechanism.@*Methods@#The experiments were performed with Langendorff-perfused rat heart with a Langendorff apparatus. 35 SD rats were used in the experiment and there were 5 rats per group. MEHP at doses of 3.125, 6.250, 12.500 and 25.000 μmol/L were given to the hearts for 25 minutes. Effects of NAC at concentration of 5 mmol/L were evaluated by co-treatment with 12.500 or 25.000 μmol/L MEHP. Data was collected per 5 minutes for 25 minutes. The heart rate, LVDP, LVEDP, dp/dtmax, and dp/dtmin were measured and analyzed using a PL3508 Data Acquisition and Analysis System. 200 waves at least were required each time. LDH contents in heart lavage fluid were determined by photometric assays using the automated biochemical analyzer. A section of the heart tissue was used for histopathological examination. DCFH-DA method was used to detect the levels of reactive oxygen species in different groups of heart tissues.@*Results@#There was a concentration dependent decrease of heart rate (P<0.05) . At concentrations of 6.250, 12.500 and 25.000 μmol/L, MEHP significantly decreased the LVDP, dp/dtmax and dp/dtmin (P<0.05) , and this decrease is more pronounced with perfusion time. As the MEHP was given up to 6.250, 12.500 and 25.000 μmol/L, a statistical significance was found in the increase of LVEDP (P<0.05) . For dp/dtmin, a significant increase was observed at the concentration of 3.125 μmol/L when perfused with 10 and 15 min (P<0.05) , but this increase disappeared over time. LDH in cardiac perfusate increased as the MEHP given a higher concentration (P<0.05) . Compared with the control group, Histopathological analysis showed edema of myocardial tissue and cells, and inflammatory cells infiltration and myocardial cells necrosis were obvious in the MEHP perfusion groups. Myocardial ROS levels of the four MEHP treatment groups were all significantly higher than that of control group (P<0.05) . These heart damage induced by MEHP could be attenuated by NAC in different degrees.@*Conclusion@#MEHP can induce damage to myocardial tissue of isolated rat heart and one possible mechanism is the oxidative stress
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Objective To investigate surgical interventions for periprosthetic joint infection (PJI) after total knee arthroplasty and characteristics of prognosis.Methods Sixty-two patients with PJI after total knee arthroplasty from January 2000 to November 2016 were reviewed retrospectively,included with 17 males and 45 females.The mean age was 66.0± 10.2 years old (37-85).Fourty-nine patients were diagnosed with osteoarthritis,9 with rheumatoid arthritis,2 with secondary ankyloses after suppurative arthritis and 2 with hemophilia arthritis.Forty-one patients underwent unilateral total knee arthroplasties,and 21 bilateral total knee arthroplasties.Characteristics of PJI,including infection types,existence of sinus tract,infectious pathogen,surgical intervention and patients' prognosis,were collected.Results Twenty-four patients underwent open debridement with prothesis retention.In the 14 successful cases,medial time interval between primary total knee arthroplasty and debridement was 33 days.One case of positive Methicillin resistant Staphylococcus aureus culture of joint aspiration,and 1 case formed sinus tract.In 10 cases of failed debridement,the medial time interval was 270 d.Intra-articular culture presented 4 cases of antibiotic resistant bacteria,and 6 cases formed sinus tract.Except for one patient gave up treatment and another received arthrodesis,the other 8 failed cases were all treated with revisions.In 46 revisions,nine patients underwent one-stage revisions.The mean time interval between primary total knee arthroplasty and revision was 15.9± 14.5 d.Intra-articular culture presented 3 cases of antibiotic resistant bacteria,and 1 case formed sinus tract.In the other 37 two-stage revisions,the mean time interval was 1 045.7±1 044.1 d.Intra-articular culture showed 15 cases of antibiotic resistant bacteria,and 12 cases formed sinus tract.The mean follow-up duration was 73.9±48.2 months.At the last follow-up,all patients were free of antibiotics treatment.The mean Knee Society Score (KSS) was 85.9±4.3 after successful open debridement with prothesis retention.The KSS of one-stage revision patients was 78.5±3.3,while that of two stage revision patients was 65.7±7.4.Statistical difference was found among groups (P＜0.05).Conclusion For PJI within 3 weeks after total knee arthroplasty without sinus tract or intra-articular culture of antibiotic resistant bacteria,open debridement with prosthesis retention could be recommended.One stage revision could be applied in infectious cases which appeared between 3 weeks to 1 month after primary surgery or in cases with unstable prostheses found in open debridement.For infectious cases longer than 1 month after primary procedure or those with sinus tract,severe soft tissue deficiency,intra-articular culture of antibiotic resistant bacteria,two-stage revision could be recommended.
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To evaluate whether the in vitro fertilization-embryo transfer (IVF-ET) procedures could increases the risks of adverse pregnancy outcomes (APOs) in offspring. Methods: A hospital-based prospective cohort design was conducted, which contained a control group of singleton pregnancies with indicators of subfertility who were still conceived naturally after using simple medical treatment (e.g. minimal medical intervention or ovulation induction), and an exposure group consisted of singleton pregnancies who had a history of infertility and IVF-ET treatment. All factors different between two groups in the univariate analysis were included in the multivariable logistic regression to evaluate the independent effect of IVF-ET procedures themselves on APOs. Results: After controlling for confounding factors by using multivariate logistic regression analysis, our results showed that pregnancies after IVF-ET experienced a higher risk of preterm birth (OR=1.28, 95% CI 1.05 to 1.56), low birth weight (OR=1.69, 95% CI 1.27 to 2.31), perinatal mortality (OR=5.33, 95% CI 2.44 to 11.81), and congenital malformations (OR=1.83, 95% CI 1.12 to 2.94). Conclusion: The IVF-ET operational factors may increase the risk of APOs.
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Female , Humans , Infant, Newborn , Pregnancy , Cohort Studies , Embryo Transfer , Fertilization in Vitro , Logistic Models , Pregnancy Outcome , Prospective StudiesABSTRACT
Objective To compare the effects of propylthiouracil and methimazole in the treatment of hyperthyroidism.Methods From January 2014 to January 2015,100 patients with hyperthyroidism in Tengnan Hospital of Zaozhuang Mining Group were selected as study objects,and they were divided into control group and research group according to the digital table,with 50 cases in each group.The control group was treated with propylthiouracil,the research group was treated with methimazole.The clinical effects,thyroid associated antibody level,other relevant indicators and adverse reactions between two groups were compared.Results The total effective rate of the research group was higher than that of the control group(84％ vs.80％),the difference was not statistically significant (x2 =0.271,P ＞ 0.05).Before treatment,the thyrotropin receptor antibody(TRAb) and anti-thyroid peroxidase antibody (TPOAb) between the two groups had no statistically significant differences(t =0.141,0.199,all P ＞ 0.05).After treatment,TRAb of the research group was lower than that of the control group [(7.84 ± 4.26) U/L vs.(8.67 ±4.48) U/L],TPOAb of the research group was higher than that of the control group[(167.62 ± 45.53) IU/mL vs.(158.37 ± 49.40) IU/mL],but the differences were not statistically significant (t =0.949,0.974,all p ＞ 0.05).After treatment,FT3 [(7.34 ± 2.36) pmol/L vs.(13.78 ± 2.91) pmoL/L] and FT4 [(18.52 ± 6.79) pmol/L vs.(23.71 ±6.52) pmol/L] of the research group were lower than those of the control group,the differences were significantly significant (t =12.154,3.899,all P ＜0.05).In the 2 years follow-up,24 cases(48％) in the research group stopped taking medicine,and 14 cases(28％) in the control group,the rate between the two groups had statistically significant difference (x2 =4.244,P ＜ 0.05).The thyroid-stimulating hormone (TSH) recovery time,symptom control time,liver injury time of the research group were (7.45 ± 4.01) months,(6.86 ± 3.49) weeks,(20.85 ± 8.34) d,respectively,which were shorter than those of the control group [(10.36 ± 5.14) months,(9.75 ± 3.42)weeks,(39.21 ± 27.65) d],the differences were statistically significant(t =4.i82,3.156,4.495,all P ＜ 0.05).The incidence rate of liver injury and total incidence rate of adverse reaction of the research group were 8％,54％,which were significantly lower than those of the control group (22％,74％) (x2 =3.843,4.340,all P ＜ 0.05).Conclusion Both propylthiouracil and methimazole have good treatment effects in hyerthyroidism,but methimazole works rapidly,and with good safety.
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<p><b>OBJECTIVE</b>To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.</p><p><b>RESULTS</b>The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.</p><p><b>CONCLUSION</b>SLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.</p>
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Adult , Child , Female , Humans , Male , Amino Acid Sequence , Exons , Hearing Loss, Sensorineural , Genetics , Membrane Transport Proteins , Genetics , Molecular Sequence Data , Pedigree , Vestibular Aqueduct , Congenital AbnormalitiesABSTRACT
Objective To explore the effect of lentiviral delivery green fluorescent protein in different brain regions on the transfection of dentate gyrus neurons.Methods Lenti-pSyn-EGFP was stereotaxic injected into dentate gyrus (DG),Cornu Ammonis 1 (CAl) of hippocampus and medial entorhinal cortex (EC) of rats.All animals were perfused with 4％ paraformaldehyde.Their brains were cut into 30 μm sections which were performed with Nissl fluorescent staining.Results The resuts showed that the GFP positive cells in DG area of DG,CA1,EC,DG-EC groups were (18.0± 1.0),(17.0±0.6),(17.3±0.6),(18.3±0.6) respectively,and there was no statistical difference among each group(P＞0.05).Conclusion Lentivirus delivery in EC and CA1 both can transfect DG neurons.This is a useful method to transfect dentate gyrus neurons instead of injecting lentivirus into DG directly and avoid the lesion of DG.
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ObjectiveTo measure the expression of NOB1 in liver cancer tissues, and to investigate the relationship between NOB1 and clinicopathological features of liver cancer. MethodsA total of 48 liver cancer samples were collected from the patients who underwent liver cancer surgery in our hospital from February 2011 to May 2015, and 22 samples of cirrhotic liver tissues and 22 samples of normal liver tissues were collected as controls. The immunohistochemical SP method was used to measure the expression of NOB1 in different tissues, and the relationship between the expression of NOB1 and clinicopathological features was analyzed. The chi-square test was applied for comparison of categorical data between groups. ResultsThe expression of NOB1 in liver cancer tissues was significantly higher than that in cirrhotic liver tissues and normal liver tissues (72.9% vs 36.4%/31.8%; P=0.004 and 0.001), while the expression of NOB1 showed no significant difference between cirrhotic liver tissues and normal liver tissues (P＞0.05). The patients with a tumor diameter of ＞5 cm had a significantly higher positive rate of NOB1 than those with a tumor diameter of ≤5 cm (χ2=4.355, P=0.037), and the patients with Edmondson grade Ⅲ/Ⅳ tumor had a significantly higher positive rate of NOB1 than those with Edmondson grade Ⅰ/Ⅱ tumor (χ2=5.127, P=0.024). The expression of NOB1 in liver cancer tissues was not correlated with age, sex, presence or absence of microvascular invasion, presence or absence of lymph node metastasis, and clinical TNM stage (all P＞0.05). ConclusionNOB1 is highly expressed in liver cancer tissues. The expression of NOB1 is closely related to tumor size and Edmondson grade, and can be used as an important tumor marker for liver cancer.
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<p><b>OBJECTIVE</b>To screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.</p><p><b>METHODS</b>In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.</p><p><b>RESULTS</b>Twenty women (6.17%) have carried mutations. These included 11 (3.40%) carrying a GJB2 gene mutation, 7 (2.16%) carrying a SLC26A4 gene mutation, 1 (0.31%) simultaneously carrying GJB3 and GJB2 gene mutations, and 1 (0.31%) carrying a mtDNA 12s rRNA gene mutation.</p><p><b>CONCLUSION</b>Women of child-bearing age have a high rate for carrying mutations of common deafness-related genes, among which 235delC in GJB2 was most common. Prenatal screening of couples with normal hearing is an effective way to prevent birth of affected children.</p>
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Adult , Female , Humans , Connexin 26 , Connexins , Genetics , Deafness , Genetics , MutationABSTRACT
Epigenetics is the study of heritable changes in gene expression other than the changes in the underlying DNA sequence. Such changes include DNA methylation,genomic imprinting,X chromosome inactivation and non-coding RNA regulation. Recent progresses on epigenetics offer new ideas to tackling these problems in forensic science,including determination of the necessary allele in paternity,identification of fetal paternity testing in embryonic period,discrimination of identical twins,origination analysis of tissue,and individual age estimation. This review focuses on the main concept of epigenetics and its application in the field of forensic science.
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Objective To study the surgical treatment strategy for heamophilic arthropathy and musculoskeletal appara?tus. Methods A total of 120 heamophilic patients underwent 166 primary operations from January 1996 to June 2015 in Pe?king Union Medical College Hospital, with the average age of 29.7±12 years (from 6 to 61 years). Hemophilic type A accounted for 109 patients and hemophilic type B accounted for 11. Eighty?seven patients presented with bleeds within the joints, with 63 cases for knee involved, 29 cases for hip, 11 cases for ankle. Fifteen patients presented with intramuscular bleeds, 21 patients with heamophilic pseudotumors. Strategy of clotting factor replacement therapy was designed according to the different level of opera?tion procedure. The clinical manifestation, operative strategy, clinical outcome and complications were retrospectively recorded. Results 41 cases (34.2%) of patients underwent surgeries for more than one location. Totally, 166 procedures were performed for 120 patients. There were 103 procedures of joint arthroplasty (62.0%, 103/166), 21 procedures of pseudotumor resection (12.7%, 21/166), 15 procedures of tendon lengthening, 12 procedures of ankle arthrodesis, 13 procedures for knee flexion contracture. There were 30 cases of postoperative complications, with the rate of 18.1% (30/166). The coagulation related complication was 4.8%in this group (8/166). The surgical procedure related complication was 7.2%(12/166). All the preoperative symptoms were relieved during the follow?up. Conclusion Surgical treatment was effective for the heamophilic arthropathy and lesion of mus?culoskeletal apparatus, under the reasonable clotting factor replacement therapy. The incidence of perioperative complication in heamophilic patients is higher than that in non?hemophilic patients. Closely inspection was inevitable for perioperative treat?ment in hemophilic patients.