Objective To use the DNA-pool technology to sequence patients with essential hypertension(EH) for exploring the single nucleotide polymorphism(SNP) mutation situation in Chinese patients with EH.Methods One hundred EH outpatients in the Shenzhen Sun Yat-sen Cardiovascular Hospital from March to June 2014 were continuously collected.The genomic DNA was performed the fragmentation process to 400-800 bp for conducting the database creation and sequencing.The sequencing results were compared with hg19 in the human gene bank(National Center of Biotechnology Information).Results A total of 120.8 Gb original sequence data were generated.The sequencing depth was 36.13 times,the coverage rate reached 99.88%.A total of 4 305 668 SNP loci were detected by the bioinformatic analysis,in which the C:G→T:A motation types were miximal,reaching 12 314 variation sites.Conclusion This study verifies that the data obtained by using the DNA-pool whole genome resequencing method replenishes the Chinese gene database of EH and provides some help for EH gene reasearch in the future.

Malignant tumor is one of the important diseases that affect human health. The occurrence and development of tumors are closely related to the imbalance of immune function. When the body’s immune function is low or suppressed, the traditional treatment methods can not improve the survival of cancer patients. Therefore, improving immunity and reducing immune tolerance have become one of the hotspots in anti-tumor research. Studies have shown that Chinese medicine can regulate T lymphocytes, dendritic cells, natural killer cells and macrophages, so as to improve the body’s immunity and inhibit the occurrence and development of tumors. This article reviews the role of traditional Chinese medicine in regulating tumor immunity and inhibiting tumor progression.

Objective To investigate the relationships between the concentration of serum NT-proBNP,New York Heart Association(NYHA) classification,left ventricular ejection fraction((LVEF),)and the value of serum NT-proBNP in the evaluation of cardiac function and the diagnosis of chronic heart failure.Methods One hundred and two subjects were selected,including 30 healthy controls and 72 patients with heart failure.The concentration of serum NT-proBNP was determined by an automated electrochemiluminescence immunoassayan Roche Elecsys 2010.LVEF was measured by the modified Simpson′s equation with echocardiography.The diagnosis of clinical physician was considered to be the golden standard for heart failure.Results The relationships between the concentration of serum NT-proBNP and NYHA,serum NT-proBNP levels(287.7 pg/ml) was significantly higher in heart failure patients(287.7 pg/ml) than that in healthy controls 287.7 pg/ml vs (46.1 pg/ml),P

OBJECTIVE: To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province. METHODS: Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test. RESULTS: Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05). CONCLUSION Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.
Infant, Newborn ; Humans ; Connexins/genetics* ; Retrospective Studies ; Deafness/genetics* ; Connexin 26/genetics* ; Neonatal Screening/methods* ; Mutation ; Genetic Testing/methods* ; China/epidemiology* ; Hearing ; DNA Mutational Analysis

A case of cytomegalovirus infection with skin lesions as the primary manifestation is reported.A 46-year-old female patient presented with a 3-month history of painful perioral blisters and erosions,and a 6-week history of erythema,blisters and erosions on the left ann.The patient was ever diagnosed with systemic lupus erythematosus and lupus nephritis 12 years prior to the presentation.Systemic lupus erythematosus was exacerbated 5 months prior to this presentation,and glucocorticoids and mycophenolate mofetil were administered.Skin examination revealed irregularly shaped perioral blisters with erosions and crusts,localized patchy erythema with erosion in the center on the flexor aspect of the left forearm,erythema and blisters on the left upper arm,and multiple petechiae and ecchymoses on the abdomen.Histopathological examination of the skin lesion on the left upper limb showed epidermal necrolysis with scattered viral inclusion bodies.Immunohistochemical examination revealed positive staining for cytomegalovirus antigen in giant cells in the necrolytic epidermis.Cytomegalovirus DNA was detected in exudates from lesions.However,cytomegalovirus DNA was not detected in the serum in the initial test,but became positive (8.04 × 103 copies/ml) 1 week later.In addition,anti-cytomegalovirus IgG antibodies were detected in the serum.The patient was diagnosed with cutaneous cytomegalovirus infection.Affter the treatment with both oral and topical ganciclovir,the lesions were improved gradually,followed by severe pulmonary infection,and the patient was finally died of multiple organ failure.

Objective To study the clinicopathological features of sarcomatoid hepatocellular carcinoma (SHC).Methods The clinical data of 42 patients with SHC who underwent surgical resection in the Peking University People's Hospital (n =33) and the Department of Pathology of the Peking University Health Science Center (n=9) from January 2008 to May 2017 were retrospectively analyzed.Results The average age was 58.3 (aged 32～84) years;the ratio of male to female was 2.2 ∶ 1;the average diameter of the lesions was 8.2 cm;the median AFP value was 45.2 ng/ml.The median survival time was 10.5 months,the average progression-free survival time was 2.9 months,and the 5-year survival rate was 25.0％.On histopathology,the tumor consisted of various degrees of different differentiated carcinomas with aligned sarcomatoid spindle cells.Immunohistochemical results in the sarcomatoid region expressed both mesenchymal markers and epithelial-derived markers.Conclusions SHC tumors were highly aggressive,with high rates of lymph node metastasis and poor prognosis.The diagnosis of SHC mainly depended on histopathology.Immunohistochemistry was very important for its diagnosis and differential diagnosis.Surgical resection was the treatment modality of choice to achieve prolonged survival time.

Objective To investigate the clinicopathological characteristics and significance of solid, endometrioid and transitional (SET) ovarian high-grade serous carcinoma (HGSC). Methods A total of 408 cases of ovarian HGSC admitted to Peking University People's Hospital from January 2011 to September 2016 were collected. (1) According to the proportion of tumors with SET form in all tumors, they were divided into three groups: HGSC-classic group (<25%), HGSC-SET Ⅰ (25%-50%) and HGSC-SETⅡ (>50%) group. The clinical and pathological characteristics of three groups of ovarian HGSC patients were compared respectively. (2) According to the growth pattern, that was, the proportion of pushing/expanding invasive tumors in the whole pelvic disseminated tumors of pelvic disseminated tumors, the three groups were divided into four subgroups: group A (0-25%), group B (26%-50%), group C (51%-75%) and group D (>75%). Differences in progression-free survival (PFS) among the four subgroups in each group were compared respectively. Results The median age of 408 cases with ovarian HGSC was 63.3 years (47-78 years), including 152 cases premenopausal and 256 cases postmenopausal. Among 408 cases of ovarian HGSC, 290 cases were in HGSC-classic group, 91 cases in HGSC-SETⅠand 27 cases in HGSC-SET Ⅱ group. (1) There were significant differences in age, proportion of menopausal patients, tumor necrosis (including map necrosis or acne necrosis), response rate to primary chemotherapy, 5-year mortality rate and PFS between HGSC-SET Ⅰ and HGSC-SET Ⅱ (P<0.05). There was no significant difference among the above indexes between HGSC-SETⅠand HGSC-SETⅡ(P>0.05). In HGSC-classic group, HGSC-SET Ⅰ and HGSC-SET Ⅱ, the proportion of family members or patients with history of epithelial ovarian cancer or breast cancer increased in turn, and the detection rate of serous tutal intraepithelial carcinoma (STIC) in fallopian tube tissue decreased in turn. There were significant differences between the two groups (P<0.05). (2) In HGSC-classic group, there were 147 cases in group A, 124 cases in group B and 19 cases in group C (0 case in group D), with median PFS of 17.4, 17.7 and 16.5 months respectively (P<0.05); 10, 6, 29 and 46 cases in group A, B, C and D in HGSC-SETⅠ, with median PFS of 9.6, 12.7, 30.1 months and 39.0 months respectively, which there were significant difference among group A and C and D (all P＜0.05); among group B, C and D group in HGSC-SET Ⅱ, there were respectively 3, 12 and 12 cases (0 case in group A), and the median PFS was 13.5, 34.2 and 47.8 months (P＜0.05). PFS was positively correlated with the increase of push/expansive infiltration ratio. Conclusions The detection rate of STIC in ovarian HGSC patients with SET is higher, the effect of primary chemotherapy is better, and PFS is prolonged. PFS was significantly prolonged in patients with pelvic disseminated tumors of HGSC-SET, the infiltration of which were predominated by pushing or expanding boarder.

Objective To study the value of serum human epididymal protein 4 (HE4) ,cytokeratin 19 frag-ment (CYFRA21-1) ,neuron-specific enolase (NES) and gastrin release precursors (Pro-GRP) in the diagnosis of female lung cancer .Methods A total of 100 cases of female lung cancer patients in the hospital were select-ed as the research object ,100 cases of benign lung diseases and 100 female health examiners as the control ,the serum levels of HE4 ,CYFRA21-1 ,NES and Pro-GRP were measured ,and the related statistical analysis was carried out .Results The serum levels of HE4 ,CYFRA21-1 ,NES and Pro-GRP in patients with lung cancer were significantly higher than those of benign lung disease and healthy control group (P<0 .05) ,and there was no significant difference between the benign lung disease group and the healthy control group (P>0 .05) . There was no significant difference in serum HE4 expression in different stages and pathological types of lung cancer (P>0 .05) .The ROC curve analysis showed that the area (AUC) of HE4 ,CYFRA21-1 and NES/Pro-GRP w ere 0 .927 ,0 .758 ,0 .652 and 0 .799 respectively ,and the best critical values w ere 63 .38 ,2 .05 ,14 .05 and 58 .50 respectively ,and the sensitivity was 88 .0％ ,80 .0％ ,60 .0％ ,71 .0％ respectively ,and the speci-ficity was 96 .0％ ,73 .0％ ,87 .0％ and 89 .0％ respectively .HE4 was obviously better than the other 3 items . Combined detection of HE4 ,CYFRA21-1 ,NES and Pro-GRP could also improve the diagnostic sensitivity of lung cancer ,which was 89 .0％ ,but the specificity had decreased by 88 .0％ .Conclusion The level of serum HE4 in female patients with lung cancer is significantly higher ,which can be used as a candidate marker for differential diagnosis of pulmonary benign and malignant diseases .The combined detection of these 4 markers has a high sensitivity for the diagnosis of female lung cancer ,which is suitable for the survey of female lung cancer in clinical .

Objective To investigate the effects of light acute hypervolemic hemodilution on early postop-erative cognitive function in elderly patients. Methods A total of 60 patients treated by radical surgery were equally randomized to an AHH and a non-AHH control group.Using the Mini-Mental State Examination scale (MMSE),we evaluated the cognitive function of the patients.We made comparisons between the two groups in the plasma S100β levels at T0(before anesthesia induction),T1(immediately after hemodilution),T2(immediately after operating),T(36 hour after operating)and T(424 hour after operating).Results The S-100β lever at T2、T3 and T4were markedly higher than T0in both groups(P<0.05);At T3and T4,the S-100β lever was higher in non-AHH control group than AHH group(P<0.05).There was no significant difference in the incidence of postopera-tive cognitive dysfunction between the two groups(P>0.05)There was no significant difference in the incidence of postoperative cognitive dysfunction between the two groups(P > 0.05). Conclusions AHH can significantly reduce plasma S100β in elderly patients,but there is no effect on early postoperative cognitive function.

Objective:To investigate the clinical effect of modified arrow flap for nipple reconstruction.Methods:From Jan. 2018 to Oct. 2019, 10 patients in Nanjing Hospital of Traditional Chinese Medicine who received the modified arrow flap for nipple reconstruction were collected. The rate of nipple retraction, patient satisfaction and the incidence of local flap complications were evaluated.Results:The operation time of 10 patients was 13-18 minutes, and the average operation time was (15.10±1.52) minutes. All patients were followed up for 3-24 months, with an average follow-up time of (14.60±1.07) months. The retraction rate of nipple height was 23.5%-33.2%, the average retraction rate of nipple height was (28.53±3.02) %, the diameter retraction rate of nipple was 7.1%-10.5%, and the average diameter retraction rate of nipple was (8.92±1.05) %. The patients’ satisfaction was 96%-100%, with an average of (97.9±1.60) %. None of the 10 patients had complications such as bad wound healing, incision dehiscence or flap necrosis.Conclusion:The design of the improved arrow flap is simple, the operation is simple, the curative effect is satisfactory, and the incidence of postoperative complications is low.