Objective To explore the genome-wide distribution of histone H3K27ac in intestinal type gastric cancer,analyze remodeling features of enhancers and regulome and construct a prediction model for prognosis.Methods H3K27ac CUT&Tag sequencing and RNA sequencing were performed in intestinal type gastric cancer tissues from 15 patients and normal gastric mucosa tissues from 18 healthy volunteers.Bioinformatics analysis was performed to identify the differences in genome distribution of H3K27ac modifications.Based on the distribution characteristics of H3K27ac,the enhancer elements were identified and the remodeling characteristics of enhancer and related regulome were explored.The prediction model for prognosis based on enhancer related target genes was constructed by univariate Cox and multivariate Cox regression analyses.Results The histone H3K27ac modification was mainly distributed in the enhancer region and displayed no significant differences in the genomic distribution patterns between normal and cancer tissues.Compared with normal gastric mucosa,the level of enhancer H3K27ac modification was higher in intestinal type gastric cancer.A total of 8847 enhancers with increased activity in intestinal type gastric cancer were identified,accounting for 8.3%of all enhancers,which might promote malignant behaviors such as proliferation and adhesion of gastric cancer cells.A prognosis-predicting model established based on a panel of 6 genes that upregulated by the acquired enhancer in cancers,which was able to predict the overall survival of patients.Conclusion Enhancer remodeling is one of the significant epigenetic features of intestinal type gastric cancer.These enhancers may drive malignant growth and adhesion of cancer cells by upregulating the expression of MYC,E2F3 and other genes.A prognosis model based on enhancer target genes is constructed.

Objective: To evaluate the health risk of drinking water in Ningbo City, Zhejiang Province from 2021 to 2022, so as to provide insights into ensuring the safety of drinking water. Methods: The monitoring data of drinking water from 2021 to 2022 in Ningbo City were collected from the Chinese Disease Prevention and Control Information System. The routine indicators and disinfectant indicators (radioactivity indicators were excluded) of drinking water were evaluated according to the reference limits issued by Standards for Drinking Water Quality (GB 5749-2006), and the qualification rates were calculated. The indicators with detection rate higher than 50% were selected, and assessed the carcinogenic and non-carcinogenic risks via drinking water using the risk assessment model recommended by the United States Environmental Protection Agency. Results: A total of 1 678 samples were monitored in Ningbo City from 2021 to 2022. Sodium hypochlorite was the main disinfectant among 1 558 samples from centralized water supply (1 079 samples, 64.30%), and none of the 120 samples from decentralized water supply underwent disinfection treatment. The qualification rate of 88.38%, and the pollutants with a detection rate higher than 50% were nitrate, fluoride, trichloromethane and aluminum. The median carcinogenic risk value of trichloromethane was 2.964×10-6 (interquartile range, 3.909×10-6), and the median hazard quotient values of nitrate, fluoride, trichloromethane and aluminum were 1.631×10-2 (interquartile range, 1.361×10-2), 3.955×10-2 (3.164×10-2), 2.231×10-2 (2.942×10-2) and 2.136×10-4 (6.573×10-4), respectively. Conclusion The carcinogenic and non-carcinogenic risks through drinking water for 17 pollutants in drinking water of Ningbo City from 2021 to 2022 were at low levels.

The individualized precision management of hereditary pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes (PPGLs) based on molecular diagnosis and molecular subtype is becoming more popular. The newly discovered MAX germline mutation-associated PPGLs are autosomally dominant and rare. To raise awareness and explore the effective management of individual diagnosis and treatment, the relevant literature published between January 2011 and February was systematically reviewed. There were a total of 101 patients in the 77 families, involving all 5 exons, containing 44 types of MAX germline mutations and mostly concentrated in exons 3 and 4 (64.4%), the main mutations were nonsense mutations and missense mutations (72.3%), and some were large fragment deletions or insertions, intron variant, gene fusion mutations were relatively infrequent. Furthermore, about 10% of the patients had a paternal parent-of-origin effect. Among the 101 patients, 96 (95.0%) developed PHEO including 15 metastatic PHEO, 61 bilateral PHEO and 35 unilateral PHEO. The age of diagnosis was (31.7±10.9) years (range: 13 to 80 years). The male to female ratio was 1.2∶1. Eleven were accompanied with chest and abdominal PGL. Eight (7.9%) were accompanied by functional pituitary adenoma. And 12 (11.9%) developed other neuroendocrine tumors (NET), of which 8 were accompanied by PHEO, including 4 hyperparathyroidism, 1 gangliocytoma and neuroblastoma, 1 pancreatic NET, 1 medullary thyroid carcinoma and 1 C cell hyperplasia. Six presented concomitant non-NET, including 1 tongue squamous cell carcinoma, 1 papillary thyroid carcinoma, 1 prostate cancer, 1 renal oncocytoma, 1 breast cancer with renal oncocytoma, and 1 thoracic chondrosarcoma with multifocal adenocarcinoma of lung. The remaining 5 cases (5.0%), including 4 other NET (2 ganglioblastoma, 1 abdominal neuroblastoma and 1 pancreatic NET) and 1 asymptomatic child, did not present PHEO. The MAX germline mutation may cause a novel multiple endocrine neoplasia, which can be described as type 5. A comprehensive baseline assessment of neural crest cell-derived diseases such as PPGL, pituitary adenoma, hyperparathyroidism, and/or gangliocytoma (neuroblastoma) was recommended for all people with MAX germline mutations, and the risk of bilateral and/or metastatic PHEO should also be considered. In contrast, patients with PPGLs combined with other NET, such as functional pituitary adenoma, should undergo genetic testing and pedigree screening that includes at least the MAX gene.

To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

The individualized precision management of hereditary pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes (PPGLs) based on molecular diagnosis and molecular subtype is becoming more popular. The newly discovered MAX germline mutation-associated PPGLs are autosomally dominant and rare. To raise awareness and explore the effective management of individual diagnosis and treatment, the relevant literature published between January 2011 and February was systematically reviewed. There were a total of 101 patients in the 77 families, involving all 5 exons, containing 44 types of MAX germline mutations and mostly concentrated in exons 3 and 4 (64.4%), the main mutations were nonsense mutations and missense mutations (72.3%), and some were large fragment deletions or insertions, intron variant, gene fusion mutations were relatively infrequent. Furthermore, about 10% of the patients had a paternal parent-of-origin effect. Among the 101 patients, 96 (95.0%) developed PHEO including 15 metastatic PHEO, 61 bilateral PHEO and 35 unilateral PHEO. The age of diagnosis was (31.7±10.9) years (range: 13 to 80 years). The male to female ratio was 1.2∶1. Eleven were accompanied with chest and abdominal PGL. Eight (7.9%) were accompanied by functional pituitary adenoma. And 12 (11.9%) developed other neuroendocrine tumors (NET), of which 8 were accompanied by PHEO, including 4 hyperparathyroidism, 1 gangliocytoma and neuroblastoma, 1 pancreatic NET, 1 medullary thyroid carcinoma and 1 C cell hyperplasia. Six presented concomitant non-NET, including 1 tongue squamous cell carcinoma, 1 papillary thyroid carcinoma, 1 prostate cancer, 1 renal oncocytoma, 1 breast cancer with renal oncocytoma, and 1 thoracic chondrosarcoma with multifocal adenocarcinoma of lung. The remaining 5 cases (5.0%), including 4 other NET (2 ganglioblastoma, 1 abdominal neuroblastoma and 1 pancreatic NET) and 1 asymptomatic child, did not present PHEO. The MAX germline mutation may cause a novel multiple endocrine neoplasia, which can be described as type 5. A comprehensive baseline assessment of neural crest cell-derived diseases such as PPGL, pituitary adenoma, hyperparathyroidism, and/or gangliocytoma (neuroblastoma) was recommended for all people with MAX germline mutations, and the risk of bilateral and/or metastatic PHEO should also be considered. In contrast, patients with PPGLs combined with other NET, such as functional pituitary adenoma, should undergo genetic testing and pedigree screening that includes at least the MAX gene.

Objective:To investigate the application effect of Precede-Proceed model nursing in postoperative anti-osteoporosis treatment of patients with osteoporotic thoracolumbar fracture (OTLF).Methods:A retrospective cohort study was conducted to analyze the clinical data of 168 patients with OTLF admitted to the Second Affiliated Hospital of Soochow University from September 2021 to June 2022, including 32 males and 136 females, aged 56-81 years [(72.0±6.6)years]. The fractured segments were T 1-T 10 in 29 patients, T 11-L 2 in 114 and L 3-L 5 in 25, all of whom were treated with percutaneous kyphoplasty (PKP). The 86 patients admitted from September 2021 to January 2022 were treated with conventional care (conventional nursing group) and the 82 patients admitted from February to June 2022 with Precede-Proceed model care (Precede-Proceed model nursing group). The compliance rates of anti-osteoporosis treatment at 1 and 6 months postoperatively and at the last follow-up were compared between the two groups, mainly including standardized medication, balanced diet, exercise and regular return visit. Chinese Osteoporosis Quality of Life (COQOL) questionnaire, including pain degree, physical function, social interaction ability, psychological and mental function, and total score were assessed before, at 6 months after surgery and at the last follow-up. Bone mineral density was measured preoperatively and at the last follow-up. Recurrence rate was recorded at the last follow-up. Results:All the patients were followed up for 12-16 months [(13.2±1.0)months]. There were 3 patients in the conventional nursing group and 2 in the Precede-Proceed model nursing group who were lost to follow-up. The compliance rates of standardized medication and regular return visit at 1 month after surgery were 97.5% (78/80) and 98.8% (79/80) in the Precede-Proceed model nursing group, which had no significant difference compared with 90.3% (75/83) and 96.4% (80/83) in the conventional nursing group ( P>0.05). The compliance rates of balanced diet and exercise at 1 month after surgery were 92.5% (74/80) and 91.3% (73/80) in the Precede-Proceed model nursing group, which were higher than those in the conventional nursing group [78.3% (65/83) and 73.5% (61/83)] ( P<0.05 or 0.01). The compliance rates of standardized medication, balanced diet, exercise and regular return visit at 6 months after surgery were 86.3% (69/80), 83.8% (67/80), 82.5% (66/80) and 90% (72/80) in the Precede-Proceed model nursing group, which were higher than those in the conventional nursing group [57.8% (48/83), 60.2% (50/83), 38.6% (32/83) and 37.3% (31/83)] ( P<0.01). At the last follow-up, the compliance rates of all the aspects in the Precede-Proceed model nursing group were 80% (64/80), 75% (60/80), 70% (56/80) and 82.5% (66/80), which were all higher than those of the conventional nursing group [36.1% (30/83), 54.2% (45/83), 26.5% (22/83) and 27.7% (23/83)] ( P<0.01). There were no statistical differences in COQOL scores including pain degree, physical function, social interaction ability, psychological and mental function and total scores between the two groups before surgery ( P>0.05). The pain degree, social interaction ability, psychological and mental function and total scores of COQOL in the Precede-Proceed model nursing group were lower than those in conventional nursing group at 6 months after surgery and at the last follow-up ( P<0.05 or 0.01). There was no statistical difference in the physical function of COQOL scores at 6 months after surgery ( P>0.05). The physical function of COQOL scores in the Precede-Proceed model nursing group were significantly lower than that of the conventional nursing group at the last follow-up ( P<0.05). There was no statistical difference in preoperative bone mineral density between the two groups ( P>0.05). Bone mineral density in the Precede-Proceed model nursing group was (-2.7±0.9)SD at the last follow-up, which was higher than that in the conventional nursing group [(-3.1±0.9)SD] ( P<0.05). At the last follow-up, bone mineral density of the Precede-Proceed model nursing group was significantly improved compared with that before surgery ( P<0.01), while there was no significant difference in the conventional nursing group ( P>0.05). The incidence of refracture in the Precede-Proceed model nursing group was 3.8% (3/80), which was lower than that in conventional nursing group [13.3% (11/83)] ( P<0.05). Conclusion:Compared with the conventional nursing mode, the Precede-Proceed model nursing can significantly improve the compliance rate of OTLF patients with postoperative anti osteoporosis treatment, improve their quality of life and bone quality, and reduce the incidence of refracture.

OBJECTIVE: To explore the pathological characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A) with cutaneous lichen amyloidosis (CLA). METHODS: Clinical data of 51 members from 7 unrelated pedigrees of MEN2A-CLA were collected. Systemic clinical investigations including biochemical testing, imaging examination, germline RET variant screening and histopathological examination were carried out. RESULTS: RET gene variants were detected in 28 patients with MEN2A (C634G/F/R/S/W and C611Y) including 12 males and 16 females, with the mean age of diagnosis being (41.1 ± 18.3) years old, which were consistent with their clinical manifestations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), hyperparathyroidism (HPTH) and CLA among 28 MEN2A patients were 89.3%, 28.6%, 7.1% and 28.6%, respectively. Comparison of the incidence of MTC/PHEO/HPTH and CLA between C611Y and C634G/F/R/S/W, only PHEO and CLA in C611Y were lower than those in C634G/F/R/S/W (P < 0.05; P < 0.05). Among 8 patients with CLA, the male to female ratio was 2 : 6. The clinical features included pruritus in the interscapular region and presence of dry, thickened, scaly, brown pigment, clustered or desquamate-like plaques. The mean onset age of CLA [(18.4 ± 4.6) years] versus the mean age at diagnosis of CLA or MEN2A were significantly different (P < 0.001; P < 0.001). CONCLUSION MEN2A-CLA may be the early clinical manifestation of MEN2A and most frequently occurred along with RET-C634 variant. To facilitate the recognition of MEN2A-CLA, to combine family investigation and screening of RET variant are helpful for early diagnosis and standardized treatment, which can improve the long-term outcome of MEN2A-specific tumors.
Adolescent ; Adrenal Gland Neoplasms ; Adult ; Amyloidosis, Familial ; Carcinoma, Neuroendocrine ; China ; Female ; Humans ; Lichens ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/genetics* ; Pheochromocytoma ; Proto-Oncogene Proteins c-ret/genetics* ; Skin Diseases, Genetic ; Thyroid Neoplasms/genetics* ; Young Adult

Objective:To investigate the current situation of cytomegalovirus (CMV) infection in infants in Lishui, and summarize the related factors of CMV infection, evaluate its influence on the growth and development of infants, and provide evidence for the prevention and control of CMV infection.Methods:In this study, 2 254 cases of infants admitted in pediatric ward in Lishui Maternal and Child Health Hospital, Qingtian County People′s Hospital, Suichang County People′s Hospital, Qingyuan County People′s Hospital from January 1, 2015 to December 31, 2017 with integral clinical data were selected. All the babies were followed up from the time when they were born to 1 year old. The serum CMV antibody and the urine CMV-DNA were screened, the general situation and clinical features of CMV infection were summarized, and the relevant factors of infants CMV infection were analyzed and screened by the single factor and multiple factors analysis. They were followed up to 1 year old to clarify the influence of CMV infection on the growth and development of infants.Results:From 2015 to 2017, the total positive infection rate of CMV-IgM in infants under 1 year old in Lishui was 10.43%(235/2 254), and CMV-IgM positive infection decreased year by year. The positive rate of CMV-IgG did not change significantly with time. The positive rate of CMV-IgM was the highest at 1—3 months, and up to 15.29% (61/399). The positive rate of CMV-IgM decreased with the age of the babies. The positive rate of CMV-IgG increased with the age of the babies. The positive rate of CMV-IgM in infants showed no significant difference in gender ( P>0.05). The positive rate of CMV-IgM was higher in men than that in women [65.43% (810/1 238) vs. 55.51% (564/1 016)], and there was significant difference ( P<0.05). The gestational age of the infected group was lower than that of the non-infected group [(37.41 ± 1.63) weeks vs. (38.97 ± 0.97) weeks], and the breast-feeding rate of the infected group was higher than that of the non-infected group [57.87%(136/235) vs. 40.00%(40/100)], and there were significant differences ( P<0.05). Thrombocytopenia, the increase of transaminase, necrotizing enterocolitis of newborn, and hepatosplenomegaly of infected group is higher that of the non-infected group [18.72%(44/235) vs. 1.00% (1/100), 29.36% (69/235) vs. 13.00% (13/100), 26.81% (63/235) vs. 10.00% (10/100), 9.79% (23/235) vs. 0], and there were significant differences ( P<0.05). Gestational age and breast-feeding were possible risk factors for CMV infection in infants under 1 year old ( P<0.05). There was no significant difference in height, weight, head circumference and intelligence score between the infected group and the non-infected group at the age of 1 year ( P>0.05). The total abnormal rate of hearing development and the abnormal detection rate of B-ultrasound in the infected group were higher than those in the non-infected group [13.62%(64/470) vs. 1.00%(2/200), 6.38%(15/235) vs. 0], and there were significant differences ( P<0.05). Conclusions:The CMV active infection rate of infants under 1 year old in Lishui is relatively high and decreases year by year. It decreases with the prolongation of birth time, and there is no gender difference. Gestational age and breast-feeding are the risk factors for active CMV infection in infants. CMV infection affects the hearing development and the brain development of infants under 1 year old, which is the main cause of hepatitis. It is necessary to pay attention to the prevention of CMV infection, strengthen maternal perinatal health care, and strengthen the screening of CMV infection in high-risk groups.

Objective: To develop a native adaptive behavior scale for children with autism spectrum disorder(ASD) and to explore its reliability and validity. Methods: Items of ASD adaptive behavior rating scale were selected based on the scale development theory, ASD knowledge and adaptive behavior concept through preliminary survey and statistical, and 301 ASD children aged 2 to 12 from hospitals in Guangzhou, Huizhou, Shenzhen who met the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition were selected, data was analyzed by the item analysis. Results: After item analysis and exploratory factor analysis, the final version of the scale contains 58 items, and 64.24% of the total variation could be explained by 6 factors; The Cronbach’s α coefficient of the full scale was 0.98, and the coefficient value of dimen sional factors were 0.94，0.93，0.91，0.95，0.88，0.94. The test-test reliability r of full scale was 0.86, the r of the factor were 0.88，0.81，0.81，0.87，0.88，0.79. The criterion-related validity r with the ABAS-Ⅱ scale was -0.77, the criterion-related validity r with the CARS scale was 0.64. Conclusion The ASD Child Adaptive Behavior Scale showed good reliability and validity, and could be used widely.