OBJECTIVE: To explore the clinical features and management of a child with Chitayat syndrome. METHODS: A child presented at the Fengqing People's Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child and his father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01). RESULTS: The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that he has harbored a heterozygous c.266A>G p.(Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p.Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+PM2_Supporting+PM6+PS1+PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. CONCLUSION Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.
Humans ; Male ; Exome Sequencing ; Female ; Mutation ; Child, Preschool ; Infant ; Developmental Disabilities/genetics*

Objective:To investigate the effect of tumor-associated macrophage(TAM) on proliferation of renal carcinoma cells and its related mechanism.Methods:The model of TAM was established by stimulating human monocytic leukemia cell line THP-1 with phorbol myristate acetate (PMA), bacterial endotoxin (LPS) and interferon-γ (IFN- γ). Then the TAM model was co-cultured with carcinoma cell lines ACHN and 786-O in vitro .The cytokines IL-6, TNF-α and IL-1β in TAM supernatant were detected by enzyme-linked immunosorbent assay (ELISA). MTT method was used to detect the proliferation of ACHN and 786-O cells treated with supernatant of TAM or TAM/Tocilizumab. Western blot was used to detect lactate dehydrogenase A (LDHA) expression of both renal cancer cells co-cultured with TAM or TAM/Tocilizumab. The ACHN and 786-O cells with LDHA-overexpression and LDHA-knockdown were cultured in TAM supernatant in vitro. The cell proliferation was detected by MTT and the relative proliferation rate was calculated.Results:THP-1 cells was differentiated into TAM through the treatment of 80 ng/ml PMA combined with 20 ng/ml LPS and 20 ng/ml IFN- γ.The expression rate of CD68, a cell surface marker on TAM, was (36.2 ±4.5)%. When TAM was co-cultured with ACHN cells, the results of ELISA showed that the secretion of IL-6 in the supernatant was significantly elevated compared with that in the supernatant when ACHN cells cultured alone [(138.0 ±12.4) pg/ml and (19.7±4.9) pg/ml], and the secretion of TNF- α [(122.5 ±14.2) pg/ml and (12.6 ±2.3) pg/ml] and IL-1 β [(89.2 ±6.4) pg/ml and (69.2 ±3.5) pg/ml] were also significantly increased. The secretion of IL-6 [(119.2 ±14.8) pg/ml and (17.1 ±3.3) pg/ml], TNF- α [(122.6 ±14.4) pg/ml and (45.7 ±7.2) pg/ml] and IL-1 β [(95.1 ±11.8) pg/ml and (88.2 ±12.7) pg/ml] in the supernatant were also significantly elevated when 786-O cells co-cultured with TAM compared with 786-O cells cultured alone. After treated with the supernatant of TAM for 72 hours, the relative proliferation rates of ACHN and 786-O cells [(128.6 ±21.4)% and (124.2 ±19.7)%] were significantly higher than that of the control group (100.0%). At the same time, the expression of LDHA in ACHN and 786-O cells increased significantly. After 72 hours of treatment with the supernatant of TAM combined with tocilizumab, the relative proliferation rates of ACHN and 786-O cells [(76.5±13.7)% and (74.8±12.5)%] were significantly lower than that of the control group(100.0%), and the expression of LDHA was also significantly decreased at the same time. The relative proliferation rates of ACHN and 786-O cells in LDHA overexpression group [(121.5 ±17.2)% and (122.7±21.6)%]were significantly higher than that in blank-vector-transfection group[(93.3±10.7)% and (89.8±11.2)%], while the relative proliferation rates in LDHA-knockdown group [(61.4±11.2)% and (58.0 ±10.6)% ]were significantly lower than that in blank-vector-transfection group.Conclusions:By secreting IL-6, TAM can up-regulate the expression of LDHA and promote the proliferation of renal cancer cells.

To detemine the expression pattern of mTOR complex subunits Raptor and Rictor in the hair follicles of mice at different hair follicle stages, and to explore its significance. 
 Methods: Immunostaining of Ki-67, a proliferative marker, was used to determine the precise hair follicle stages of mouse dorsal skin at different postnatal time points. Real-time PCR was used to detect the mRNA expression of Raptor and Rictor in mouse dorsal skin at 43 days after birth (P43, early telogen), 56 days after birth (P56, mid-telogen), 69 days after birth (P69, late telogen) and 74 days after birth (P74, early anagen). The expression intensity and localization of Raptor and Rictor at different stages of hair cycle were tested by co-immumostaining.
 Results: Ki-67 immunostaining showed that the time points (P43, P56, P69, P74) and hair follicle stages (early telogen, mid-telogen, late telogen, early anagen) of the dorsal skin were consistent with each other. The results of real-time PCR and immunostaining were consistent, showing that the expression of Raptor and Rictor did not changed in the early-, mid-, late telogen, and early anagen. However, Raptor was specifically expressed in the bulge where hair follicle stem cells (HFSCs) are residing in, and Rictor was mainly detected in inner root sheath (IRS) cells. 
 Conclusion: The expression of Raptor and Rictor does not altered in the hair follicles at different hair follicle stages, but Raptor and Rictor are specifically expressed in the HFSCs and IRS cells, respectively, indicating that Raptor might be a molecular marker for HFSCs, and Rictor might be involved in the maintenance of IRS and formation of hair shaft.
Animals ; Hair ; Hair Follicle ; Mice ; Rapamycin-Insensitive Companion of mTOR Protein ; Raptors ; Skin ; TOR Serine-Threonine Kinases

Objective: To identify the time window during which the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway plays a key role in telogen-to-anagen transition of hair follicles, and to explore whether the pathway specifically promotes the proliferation of hair follicle stem cells (HFSCs) . Methods: Totally, 36 newborn ICR mice were randomly and equally divided into 3 groups: RAPA-P19 group intraperitoneally injected with 5 mg·kg^-1·d^-1 sirolimus on days 19-24 after birth, RAPA-P21 group intraperitoneally injected with 5 mg·kg^-1·d^-1 sirolimus on days 21-24 after birth, and control group intraperitoneally injected with the same volume of solvent on days 19-24 after birth. Four mice were sacrificed in each group on days 22, 23 and 24 separately. Skin tissues were resected from the back, and hematoxylin-eosin staining of the skin tissues were performed followed by observation of hair follicle morphology to evaluate whether murine hair follicles progressed into the anagen phase on day 24. Immunofluorescence costaining was conducted to determine the expression and localization of mTORC1 downstream molecular marker pS6 and cell proliferation marker Ki67 on days 22 and 23. Results: On day 24, hematoxylin-eosin staining showed anagen hair follicles in the control group and RAPA-P21 group, but telogen hair follicles in the RAPA-P19 group. On days 22 and 23, immunofluorescence costaining revealed positive staining for both pS6 and Ki67 in HFSCs in the control group, negative staining for both pS6 and Ki67 in the RAPA-P19 group, negative staining for pS6 and positive staining for Ki67 in the RAPA-P21 group. On day 23, epidermal cells and sebaceous gland cells in the upper hair follicle bulge were stained positively for Ki67 in all the 3 groups. Conclusion mTORC1 signaling specifically promotes the proliferation of HFSCs during telogen-to-anagen transition, but not affects proliferation of other cells in hair follicles.

Objective To evaluate the CT features of small lung invasive adenocarcinoma with air?containing space and its relationship with pathological types, and to explore the pathological basis of air?containing space. Methods CT and pathological data of fifty patients with surgically proven lung invasive adenocarcinoma with air?containing space in our hospital from January 2012 to December 2017 were retrospectively reviewed. CT image analysis included image features of tumor and air?containing space. Pathological analysis included pathological subtype, differentiation degree. CT features of tumor and air?containing space were compared with regard to pathological types using chi?square test or Fisher exact text. Analysis of variance was used to compare quantitative data satisfying normal distribution, while those data not satisfying normal distribution were compared with Kruskal?Wallis test. In addition, Spearman correlation was used to analyze the correlation between nodule density and pathological types. Results (1) CT features of tumors: Tumors were predominantly located in peripheral lungs (46/50). Most of the tumors were subsolid nodules (37/50). Tumor?lung interface was generally clear (46/50). Tumors are often accompanied by malignant signs such as lobulation (37/50), spicule sign (27/50), air bronchogram sign (43/50), and pleural indentation (36/50). The mean diameter of nodules ranged from 7.50 mm to 18.12 mm, with an average of (12.91±2.85)mm. The nodule density ranged from-657.00 to 73.00 HU with an average of (-213.88±206.16) HU. (2) CT features of air?containing space:Air?containing spaces were commonly solitary (37/50) and were found to be mainly in an eccentric distribution (29/37). The maximum diameter of air?containing space ranged from 1.00 to 16.00mm, and the average diameter was (4.23±3.14)mm. Air?containing spaces less than 5mm were found in 35 cases (70%), and air?containing spaces more than 5mm were found in 15 cases. (3) Comparison of CT features and corresponding pathological types: Nodule density, number of air?containing space, and type of nodule density in different pathological types were statistically different (P<0.05). There was a correlation between nodule density and pathological subtypes (r=0.371, P=0.008). Differences of nodule density, short?dimension of nodule, type of nodule density, spicule sign, pleural indentation among different tumor differentiation degrees were significant (P<0.05). The degree of tumor differentiation was negatively correlated with nodule density (r=-0.451, P=0.001). Conclusion The detection rate of air?containing space in lung invasive adenocarcinomas is 12.7%. Most small lung invasive adenocarcinomas with air?containing space are presented as peripheral subsolid nodule, and there is a certain correlation between their CT features and pathological types. The pathological basis of air?containing space was supposed to be dilated distal bronchiole induced by check?valve mechanism and destruction of alveolar structure by tumor.

Objective: To evaluate the CT features of small lung invasive adenocarcinoma with air-containing space and its relationship with pathological types, and to explore the pathological basis of air-containing space. Methods: CT and pathological data of fifty patients with surgically proven lung invasive adenocarcinoma with air-containing space in our hospital from January 2012 to December 2017 were retrospectively reviewed. CT image analysis included image features of tumor and air-containing space. Pathological analysis included pathological subtype, differentiation degree. CT features of tumor and air-containing space were compared with regard to pathological types using chi-square test or Fisher exact text. Analysis of variance was used to compare quantitative data satisfying normal distribution, while those data not satisfying normal distribution were compared with Kruskal-Wallis test. In addition, Spearman correlation was used to analyze the correlation between nodule density and pathological types. Results: (1) CT features of tumors: Tumors were predominantly located in peripheral lungs (46/50). Most of the tumors were subsolid nodules (37/50). Tumor-lung interface was generally clear (46/50). Tumors are often accompanied by malignant signs such as lobulation (37/50), spicule sign (27/50), air bronchogram sign (43/50), and pleural indentation (36/50). The mean diameter of nodules ranged from 7.50 mm to 18.12 mm, with an average of (12.91±2.85)mm. The nodule density ranged from-657.00 to 73.00 HU with an average of (-213.88±206.16) HU. (2) CT features of air-containing space: Air-containing spaces were commonly solitary (37/50) and were found to be mainly in an eccentric distribution (29/37). The maximum diameter of air-containing space ranged from 1.00 to 16.00mm, and the average diameter was (4.23±3.14)mm. Air-containing spaces less than 5mm were found in 35 cases (70%), and air-containing spaces more than 5mm were found in 15 cases. (3) Comparison of CT features and corresponding pathological types: Nodule density, number of air-containing space, and type of nodule density in different pathological types were statistically different (P<0.05). There was a correlation between nodule density and pathological subtypes (r=0.371, P=0.008). Differences of nodule density, short-dimension of nodule, type of nodule density, spicule sign, pleural indentation among different tumor differentiation degrees were significant (P<0.05). The degree of tumor differentiation was negatively correlated with nodule density (r=-0.451, P=0.001). Conclusion The detection rate of air-containing space in lung invasive adenocarcinomas is 12.7%. Most small lung invasive adenocarcinomas with air-containing space are presented as peripheral subsolid nodule, and there is a certain correlation between their CT features and pathological types. The pathological basis of air-containing space was supposed to be dilated distal bronchiole induced by check-valve mechanism and destruction of alveolar structure by tumor.

Objective To understand present status and coping strategies on lateral violence among emergency department nurses, and to analyze relevant reasons. Methods This study adopted a questionnaire designed by ourselves based on literatures analysis to investigate the present situation of occurrence, coping strategies, negative effects, reasons and improvement measures. Overall sampling methodology was used for 125 emergency department nurses from a grade Class A hospital in Shanghai. Results Occurrence of lateral violence among emergency department nurses during the latest three months was 56.6％(60/106). Lateral violence led to physical discomfort including insomnia 51.67％(31/60), fatigue 56.67％ (34/60) and mental discomfort including anxiety 58.33％ (35/60), subjective discomfort 51.67％(31/60) , and also enthusiasm declined by 75.00％(45/60), leaving 21.67％(13/60), or even turnover 33.33％ (20/60). Most emergency nurses considered "the person's personality problem"78.30％ (83/106) and job factors including "work rhythm fast" 66.04％ (70/106), "lack of manpower"63.21％(67/106),"poor working environment" 53.77％(57/106) as the primary cause of lateral violence. Accordingly, rational human resources management (86.79％, 92/106) and improved working environment (64.15％, 68/106) were selected as the most important measures to reduce lateral violence. Conclusions Lateral violence is exist among emergency nurses. Factors of individuals, working, management and society may leads to occurrence of lateral violence. Scientific human resource management, rational working environment, support and coping system and education may reduce emergency lateral violence.

Objective To improve fresh nurses′ implementation rate of standard clinical administration checking by applying situational simulation method, and enhancetheir ability of identifying hidden perils in nursing. Methods Totally 75 fresh nurses who graduated in 2016 were enrolled and divided into two groups (36 in control group and 39 in experimental group) according to randomized digital table method. Situational simulation method was applied in the experimental group, while the control group applied traditional nursing safety check training method. Then both groups′ satisfaction rate of lessons and self-confidence after training were recorded. Besides, their clinical administration checking behaviors after 3 months, the errors, hidden perilsand examining situations related to administration checking after 6 months,were also evaluated. Results Significant statistical differences were shown in satisfaction score (23.62 ± 2.02 in experimental group vs. 21.39 ± 1.98 in control group, t=4.818, P<0.01) and self-confidential evaluating score (35.67±2.02 in experimental group vs. 21.39±1.98 in control group, t=2.768, P<0.01). Observation of clinical administration checking behaviors 3 months after training had indicated significant differences in the number of nurses who check drug concentration (33 vs. 8, χ2=29.406, P<0.05) and executing time (30vs. 12, χ2=14.436, P<0.05).Statistical differences (χ2= 5.080-29.545, P< 0.01 or < 0.05) were also observed in the number of nurses checking bed number, patient name, drug name, dose, drug concentration and methods in and after operation. The potential nursing perils identified, and the number of nurses who identify hidden nursing perils 3 months and 6 months after training were significantly larger (χ2=50.591, 23.658, 3.914, P<0.05) in experimental group (33, 2, 10) than in control group (18, 1, 3),and there were no significant differences in the rate of potential perils and nursing error between both groups. Conclusion Situational method of administration, which is applied for fresh nurses in their initial working phase, transforms the basic and core checking system into clinical real-situation cases. It also shows an advantage of boosting their self-confidence of learning, improving the implementation rate of standard clinical administration checking and the ability of avoiding potential nursing perils.

Objective From knowledge,attitude,practice,and environment dimensions to investigate the status of oral health self-management in adolescents receiving fixed orthodontics and analyze its influencing factors.Methods A self-designed questionnaire developed from an evaluation index system for adolescents receiving fixed orthodontics was used to investigate 300 adolescent orthodontic patients in a stonatological hospital in Shanghai,who were 11 to 17 years old,receiving fixed orthodontics for more than three months.Results For adolescents receiving fixed orthodontics,self-management knowledge score was 0.99-±0.18,attitude score was 0.92±0.13,practice score was 1.11±0.21,and environment score was 0.66±0.15.The scores of oral health self-management knowledge,attitude,practice,and environment were significantly different between boys and girls(P＜0.01).There was significant difference in the scores of oral health self-management practice in adolescents with different age(P＜0.05).The scores of oral health selfmanagement were significantly different for adolescents with different stages of receiving fixed orthodontics(P＜0.05).Multiple stepwise regression analysis showed that oral health self-management status was affected by gender and age.Conclusion The oral health self-management status of adolescents receiving fixed orthodontics needs to be further improved.Female adolescents have better oral health self-management status than male adolescents.The increasing of age cannot necessarily improve self-management status.Orthodontic time has the greatest influence on oral health self-management practice.Medical staffs can provide targeted health education and guidance based on the status and influencing factors for adolescent orthodontic patients in order to improve their oral health self-management status.

[Summary] 45 male SD rats with 4 week old were assigned to 3 groups after normal feedstuff for 2 weeks:control group(n=15), diabetic group(n=15), and calcitriol group(n=15).Diabetic rat model were induced using intraperitoneal injection with streptozotocin( STZ) after 12 h fasting.Calcitriol group and diabetic group were treated with calcitriol for 24 weeks.Femoral biomechanics indexes were measured at end of the study.Total 30 SD rats ( 10 rats of each groups) were analyzed.Compared to normal controls, the rats in diabetic group had lower body weight [(437.02±18.66vs267.93±15.64)g,P<0.05],decreasedserumcalciumconcentration[(2.89±0.31vs2.60 ±0.38) mmol/L, P<0.05], and increased serum phosphorus concentration[(2.21 ±0.35 vs 2.80 ±0.66) mmol/L, P<0.05].At the end of the study, the ultimate force[(98.07 ±2.94 vs 70.87 ±5.75) N, P<0.05], ultimate displacement[(0.66 ±0.02 vs 0.51 ±0.02) mm, P<0.05], Young′s modulus[(139 188.51 ±10 617.69 vs 81 969.06 ±6 393.21) N/mm2, P<0.05], and modulus for toughness[(22 492.59 ±2 429.15 vs 8 292.87 ± 1 291.43) N/mm2 , P<0.05 ] of diabetic group were significantly lower than normal control group.However, calcitrol could reverse these changes at some extent.SD rats with diabetes had significant disorder of bone metabolism and decreased bone strength.Calcitriol could improve the decreased bone strength in diabetic rats.