Objective To investigate the clinical features of and GJB2 gene mutations in a Chinese Han patient with keratitis-ichthyosis-deafness syndrome (KID syndrome),in hope to offer evidence for the clinical and genetic diagnosis of KID syndrome.Methods Clinical data were collected from a patient with KID syndrome.DNA was extracted from peripheral blood of the patient and his two family members (mother and brother).PCR was performed to amplify the exon 2 and its flanking splicing sites of GJB2 gene followed by bidirectional direct DNA sequencing. Results The patient presented with the typical triad of vascularizing keratitis,ichthyosis and congenital deafness.A G148A mutation in the exon 2 of GJB2 gene,resulting in the substitution of aspartic acid by asparagine at position 50 of the junction protein connexin 26 (Cx26),was identified in the patient,but not in either of his family members.Conclusion The G148A mutation in GJB2 gene may be responsible for the clinical phenotype of KID syndrome in this Chinese patient.

Objective:To observe the effect of large pushing Tianheshui manipulation intervention on the body temperature of young rabbits with endotoxin-induced fever and discuss its antipyretic mechanism.Methods:Thirty-two young rabbits meeting the standards were selected from 40 ordinary young male New Zealand rabbits after being adapted for 7 d,and randomly divided into a normal group,a model group,a large pushing Tianheshui group,and an ibuprofen group according to the random number table method,with 8 rabbits in each group.Rabbits in the model group,the large pushing Tianheshui group,and the ibuprofen group were subjected to preparing the endotoxin-induced fever model by intravenous lipopolysaccharide from the marginal ear vein.Rabbits in the large pushing Tianheshui group received Tuina(Chinese therapeutic massage)manipulation intervention 1.5 h and 2.5 h after modeling,respectively.Rabbits in the ibuprofen group were intragastrically given ibuprofen suspension 1.5 h after modeling.The dynamic changes in body temperature were observed for the young rabbits after fever modeling.Enzyme-linked immunosorbent assay was used to determine the content changes in positive mediators of hypothalamic body temperature,including prostaglandin(PG)E2 and cyclic adenosine monophosphate(cAMP),as well as negative mediators of hypothalamic body temperature,including arginine vasopressin(AVP)and α-melanocyte stimulating hormone(α-MSH).Results:The body temperature of the young rabbits in the model group was significantly higher than that in the normal group at 0.5-4.0 h,5.0 h,and 5.5 h after modeling(P＜0.01),showing two obvious fever peaks in the model group at 1.5 h and 3.0 h after modeling,respectively,with the highest peak at 1.5 h.Compared with the model group,body temperatures of the large pushing Tianheshui group and the ibuprofen group decreased significantly after 0.5 h of intervention(P＜0.05).Compared with the normal group,the contents of PGE2 and cAMP were significantly increased(P＜0.05),and the contents of AVP and α-MSH were significantly decreased(P＜0.01)in the hypothalamus of the model group.Compared with the model group,the contents of PGE2 and cAMP were significantly decreased(P＜0.01),and the levels of AVP and α-MSH were significantly increased(P＜0.01)in the hypothalamus in the large pushing Tianheshui group and the ibuprofen group.There were no significant differences in the PGE2,cAMP,AVP,and α-MSH contents in the hypothalamus between the ibuprofen group and the large pushing Tianheshui group(P＞0.05).Conclusion:Large pushing Tianheshui manipulation has a significant antipyretic effect on endotoxin-induced fever in young rabbits.The mechanism may be related to inhibiting the positive regulators(PGE2 and cAMP)and promoting the negative regulators(AVP and α-MSH)of hypothalamic control of body temperature.

Objective:To investigate the correlation between age and tongue pressure in healthy individuals using a newly-developed tongue pressure measuring device.Methods:A total of 154 healthy volunteers aged 20 to 97 years, without noticeable swallowing difficulties, were selected and divided into seven age groups: 20-29 years ( n=24), 30-39 years ( n=22), 40-49 years ( n=20), 50-59 years ( n=24), 60-69 years ( n=22), 70-79 years ( n=22), and 80 years or more ( n=20). Their maximum, minimum, average and initial pressures, work done, and coefficients of variation were measured using the newly designed tongue pressure measuring device in its intermittent and continuous measurement modes. The tongue pressures were correlated with age and gender. Results:The pressure data obtained using the new device were completely consistent with those from a manometer ( R=1). In the intermittent measurement mode, the readings showed that the maximum, minimum and average tongue pressures decreased significantly with age. In the continuous measurement mode, the initial tongue pressure, average pressure and work done also decreased significantly with age, while the coefficient of variation generally increased with age. There was a negative correlation between age and average tongue pressure ( R2=0.4). The relationship could be expressed as y=-0.8595x+ 103.3 (where x is age, and y is tongue pressure). However, no significant correlation was found between gender and tongue pressure. Conclusions:Tongue pressure and its stability are negatively correlated with age in healthy individuals without swallowing dysfunction, showing no significant correlation with gender.

OBJECTIVETo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.

METHODSClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.

RESULTSTwo missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.

CONCLUSIONMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.

Objective To analyze the recurrence factors of the patients with intermediate risk papillary thyroid carcinoma(PTC)after radioactive iodine treatment(RAIT).Methods A total of 254 intermediate risk PTC patients after RAIT from January 2018 to May 2020 in our hospital were enrolled into this study.Chi square test and multivariate analysis were applied to analyze the main recurrence factors after RAIT.Results Thirty four(13.4%)patients with intermediate risk PTC relapsed after RAIT.The primary tumor size,lymph node metastasis staging,and pre-ablation stimulated thyroglobulin(psTg)were associated with tumor recurrence.According to the receiver operating characteristic(ROC)curve,psTg 25.6 μg/L was the best cutoff value for predicting recurrence.Further multivariate analysis revealed that lymph node metastasis staging and psTg levels were independent factors of predicting PTC recurrence.When the patients with N1b and psTg≥25.6 μg/L,the incidence of tumor recurrence after RAIT was 58.3%.While the patients with N1a and psTg<25.6 μg/L,the incidengce of tumor recurrence was only 2.3%.Conclusions Lymph node metastasis staging and psTg level are the important indicators of PTC recurrence,and combining these two indicators can help predict tumor recurrence after RAIT.

Objective: To analyze the survival time of people living with HIV/AIDS and related influencing factors in Sichuan province during 1991-2017. Methods: A retrospective cohort study was conducted to analyze the data of 143 988 HIV/AIDS cases. The data were collected from Chinese HIV/AIDS Comprehensive Information Management System. Life table method was used to calculate the survival proportion of the cases, and Cox proportion hazard regression model was used to identify the factors related with survival time. Results: Among 143 988 HIV/AIDS cases a total of 30 420 cases died of AIDS related diseases (21.1%) and the average survival time was 11.51 years (95%CI: 11.39-11.64). Multivariate Cox regression analysis showed that the influencing factors for the survival of HIV/AIDS cases were gender (male vs. female, HR=1.35, 95%CI: 1.32-1.40), education level (primary school or below vs. junior middle school: HR=1.15, 95%CI: 1.12-1.18), ethnic group (Han vs. other ethnic groups, HR=1.46, 95%CI: 1.41-1.52), occupation (farmer vs. other occupations: HR=1.26, 95%CI: 1.22-1.29), age (≥55 years old vs. 15-24 years old: HR=3.18, 95%CI: 3.02- 3.36), disease phase (AIDS vs. HIV infection: HR=1.44, 95%CI: 1.39-1.48), antiretroviral therapy (ART) (receiving ART vs. receiving no ART: HR=0.20, 95%CI: 0.19-0.20), and CD₄⁺T cell counts at diagnosis (>500 cells/μl vs.<200 cells/μl: HR=0.42, 95%CI: 0.40-0.45). Conclusions The average survival time of HIV/AIDS cases was 11.51 years in Sichuan during 1991- 2017. The risk factors for the survival of the cases were male, education level of primary school or below, Han ethnic group, farmer, old age at diagnosis, disease phase, The protective factors for the survival of HIV/AIDS cases were receiving ART and higher CD₄⁺ T cell counts at diagnosis.