The history of Medical Genetics is briefly reviewed.It is evident that Medical Genetics with its inseparable part,clinical genetics,started out as a clinical science from the very beginning.Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics service.In China,however,clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties.This is in marked contrast to the situation in the West.It is high time to acknowledge that medical genetics together with clinical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.

Objective To investigate the significance of routine exposure of recurrent laryngeal nerve (RLN)in thyroidectomy.Methods The data of consecutive 232 patients with thyroidectomies during 2009-2010 were retrospectively reviewed.All operations,either lobectomy or total thyroidectomy were performed by the same surgeons.The RLN was identified routinely during the operation.Results Totally 280 RLNs were exposed in 181 thyroid lobectomies and 51 total thyroidectomies(98.9%).Ten patients experienced post-operative hoarseness(3.6%).Seven patients were diagnosed with paralysed vocal cord post-operatively,although the RLN were identified intact during the surgeries,and their voice became normal in 2 months.Another 3 patients'RLNs were transected injured and re-anastomosed during the same procedures and their voice became normal in 4 months.Conclusions Exposing the recurrent laryngeal nerve in the thyroidectomy is an effective way to prevent permanent injury to RLN.

ObjectiveTo evaluate oncoplastic techniques on breast conservative surgery.MethodsClinical data of 50 breast cancer patients who received oncoplastic breast conservative surgery from October 2009 to August 2011 were retrospectively analyzed.The indication,methods,outcome and morbility of oncoplastic surgery were assessed. ResultsAll patients had solitary tumors.Twelve patients received neoadjuvant therapy and thirty-eight received upfront surgical therapy.Different oncoplastic surgery techniques were applied based on the location of tumor.There were 20 tumors located in upper outer quadrant receiving lateral radial or horizontal excision; Four lower inner and seven lower outer tumors received V and J shape excision respectively; Three low pole and seven upper pole tumors received inverted T and batwing excision respectively; Six tumors located periareolar area and three tumors located retroareolar area were removed using round block and J shape excision.Two patients experienced postoperative hematoma and three patients had incisional dehiscence followed by secondary infection. Another developed skin ischemia and necrosis. Thirty-five patients have finished the postoperative adjuvant radiotherapy. The appearances of the breasts were satisfactory in all patients except one having deviation of nipple and two patients suffering from dimpling in incisional region.Patients gave high scores about their breast appearance.After 4- 27 months follow-up,two patients had local recurrence and received mastectomy.Other patients were free of recurrence.ConclusionsBreast oncoplastic surgery technique benefits those whose tumors located in special area of the breast resulting in a satisfactory cosmetical appearance of the breast.

G (E165E) in exon 1 of KRT6A gene, were found in this patient. Conclusions A novel single nucleotide polymorphism of KRT16 gene which can result in the change of amino acid sequence is firstly reported and some known single nucleotide polymorphisms in KRT16 and KRT6A genes are also found in this study.

Objective To investigate the diagnosis and treatment of idiopathicgranulomatous mastitis.MethodsThis study was to retrospectively review the clinical presentation,radiological investigation,histopathological features,treatment and outcome of idiopatbic granulomatoos mastitis of women presenting to Xuanwu Hospital between January 2002 and June 2010.ResultsTwenty-four patients with a mean age of 34.5 years presented with a diagnosis of idiopathic granulomatous mastitis.Patients presented with a palpable breast lump,breast abscess,fistula formation in different periods of the disease; the role of radiological imagings was found to be limited in differentiating idiopathic granulomatous mastitis from other inflammatory and maliguant conditions of the breast.All patients underwent a surgical procedure as the main treatment; in the form of excision or incision and drainage of the breast lesions. Mean follow-up was 47.38 ( range 6-96 ) months with recurrence in 3(12.5％) patients.ConclusionsIdiopathic granulomatous mastitis presents clinically with a palpable breast lump.The diagnosis is often only made histopathologically after surgical excision or core biopsy.Wide excision of the lesions or incision and drainage of the lesion are the main treatment modalities.

Purpose To investigate the relation of Epstein-Barr virus ( EBV) infections and malignant lymphoma. Methods EBV-co-ded RNA ( EBER) was detected by in situ hybridization in tumor tissue of 81 cases of malignant lymphoma in oral, maxillofacial and neck regions, with analysis of the clinical pathological features. Results The detection frequencies of EBER was 44. 44%. The posi-tive detection of EBER in Hodgkin′s lymphomas was 40% and that in non-Hodgkin lymphomas was 45. 1%, including 75% in T cell lymphomas, 87. 5% in NK/T cell lymphomas and 2. 9% in B-cell lymphoma. The positive rates of EBER in T cell lymphomas and NK/T cell lymphomas were significantly higher than that in B-cell lymphoma (P<0. 05). There was a significant difference in the pos-itive rates of EBER between intra-nodal ( 17. 9%) and extra-nodal ( 58. 5%) lymphomas ( P<0. 05 ) . But there was no significant difference the positive rates of EBER between in lymphoma patients over 50 years of age and under the age of 50 patients (55. 9%) (P>0. 05). Conclusion Oral and maxillofacial and neck lymphoma is closely associated with EBV infection in Guangxi region, espe-cially, in which NK/T cell lymphoma most typically occurs in extra-nodal diffuse lymphoid tissues.

【Objective】 To explore the effect mechanism of Salvia miltiorrhiza and safflower on combined anti-ischemic stroke and verify relevant action targets in middle cerebral artery occlusion (MCAO) rat model based on network pharmacology. 【Methods】 ①Traditional Chinese Medicine Systems Pharmacology (TCMSP) and GeneCards databases were used to screen the active components, component targets and ischemic stroke targets of Salvia miltiorrhiza and safflower respectively. The above data were imported into STRING database for protein interaction network analysis, and Cytoscape3.8.0 software was used to construct protein interaction network (PPI) and component target interaction network. Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway annotation analysis of target genes were performed using David online analysis tool. ② In this experiment, a rat model of ischemic stroke was prepared by using improved MCAO method, and immunohistochemical method and Real-time quantitative polymerase chain reaction (REAL-TIME PCR) to detect the positive expressions of NLRP3 inflammatory body and NF P65 protein in the brain tissue of rats in each group so as to explore the functional mechanism of anti-inflammation reaction against cerebral ischemia injury. 【Results】 ① A total of 87 effective components, corresponding to 253 targets, 1448 targets for ischemic stroke and 161 targets related to drugs and diseases, were screened from the Salvia milticorrhiza and safflower drug pairs. We obtained 730 biological processes, 81 cell components and 128 molecular functions through GO analysis, and 127 signal pathways through KEGG analysis. ②Immunohistochemical method and Real-time PCR determination results showed that compared with control group rats, model group rats had significantly increased tissue NLRP3 inflammatory body and NFkBp65 protein expressions (P<0.01). Compared with those in the model group, NLRP3 inflammatory body and NFkBp65 protein expressions significantly decreased in Dan red compatibility groups and nim horizon groups (P<0.01). 【Conclusion】 Compatibility of effective components in salvia miltiorrhiza, and carthamus tinctorius can further downregulate the release of inflammatory corpuscle NLRP3 through NFkB signaling pathway by blocking inflammatory lesions and thus plays the role of fighting against inflammatory damage.

BACKGROUNDThoracic endovascular aortic repair (TEVAR) is an emerging treatment modality, which has been rapidly embraced by clinicians treating thoracic aortic disease. However, the clinical manifestations of systemic inflammatory response after TEVAR as post-implantation syndrome (PIS) resemble the perioperative infection. This study aimed to evaluate changes and diagnostic value of procalcitonin (PCT) and other traditional inflammatory markers for infections after TEVAR.

METHODSWe conducted a prospective clinical study that enrolled 162 consecutive aortic dissection cases, who underwent TEVAR in our institution between July 2011 and November 2012. The PCT, C-response protein (CRP), erythrocyte sedimentation rate (ESR) and blood routine examination were monitored before the operation and on days 1, 2, 3 and 5 after the operation. The diagnosis of infection was confirmed by the infection control committee with reference to Hospital Acquired Infection Diagnostic Criteria Assessment, released by the Ministry of Health of the People's Republic of China.

RESULTSPost endovascular repair of thoracic aorta, PCT changes significantly at different time points (χ(2) = 13.225, P = 0.021), without significant difference between the PIS group and the control group (0.24 ± 0.04 vs.0.26 ± 0.10, P = 0.804). PCT values were significantly higher in the first day after TEVAR than the preoperative levels (0.18 ± 0.03 vs. 0.11 ± 0.02, P < 0.001). Compared with PIS patients, the level of PCT, CRP, White blood cell (WBC) and neutrophil (NEU) in the infection patients elevated significantly (relatively χ(2) = 6.062, P = 0.048; χ(2) = 6.081, P = 0.048; χ(2) = 11.030, P = 0.004; χ(2) = 14.632, P = 0.001). According to the ROC analysis, the PCT levels in the first day after TEVAR (AUC = 0.785, P = 0.012) had better predictive values of infection than WBC, NEU CRP and ESR (AUC = 0.720, P = 0.040; AUC = 0.715, P = 0.045; AUC = 0.663, P = 0.274; AUC = 0.502, P = 0.991). The best predictive index was the changes of PCT between preoperative and postoperative (PCT), which possess AUC as 0.803 (P = 0.014). And PCT = 0.055 could be considered as an infection diagnosis cutoff value with a sensitivity of 83.3% and specificity 69.0%.

CONCLUSIONSPCT provides better diagnostic value of infection compared with other inflammatory markers. The potential applications of PCT in differential diagnosis of PIS and infection after percutaneous TEVAR deserve further studies.

Adult ; Aged ; Blood Sedimentation ; C-Reactive Protein ; metabolism ; Calcitonin ; metabolism ; Calcitonin Gene-Related Peptide ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Protein Precursors ; metabolism ; Vascular Surgical Procedures