AIM:To explore the effect of high aspherical lenticule on controlling low myopia.METHODS: Prospective study. A total of 100 patients aged 7 to 12 years old with low myopia who visited our hospital from May 1 to 31, 2022 were collected. They were divided into two groups with 50 cases in each group according to the wishes of patients. The control group was given single vision glasses after optometry, while the study group was given high aspherical lenticule. The myopia progression(absolute value), axial length(AL)growth, transition rate to moderate myopia, and AL negative growth rate over 6 mo and 1 a were compared between the two groups.RESULTS: The myopia progression and the AL growth of study group was lower than that of the control group after 6 mo and 1 a(all P<0.001).The negative growth rate of AL after 6 mo of treatment was significantly higher than that of the control group(P<0.001). The transition rate to moderate myopia between the two groups was not statistically significant(P=0.62); while the transition rate to moderate myopia in the study group was significantly lower than that in the control group after wearing lens for 1 a(P<0.001), and there was no statistically significant difference in AL negative growth rate between the two groups(P=0.12). Compare with single vision glasses, high aspherical lenticule achieved an 88.2% control rate for low myopia progression over 6mo and a 90.0% control rate of AL growth. The control rate for low myopia to moderate myopia was 66.7%; while the control rate of myopia progression growth was 75.6% after wearing lens for 1a, the control rate of AL growth was 69.2%, and the control rate of the transition rate to moderate myopia was 88.9%.CONCLUSION: For children and adolescents aged 7 to 12 with low myopia, high aspherical lenticule was more effective than single vision glasses in controlling myopia, making it one of the optimal choices for myopia control.

Chronic myeloid leukemia (CML) with e6a2 transcript type is very rare in clinic,which is usually related to disease aggressiveness. Its clinical characteristics and relationship with tyrosine kinase inhibitor efficacy are still unclear. In this paper, the clinical characteristics and related laboratory tests of a patient with e6a2 fusion gene positive CML characterized by multiple osteolytic bone destruction throughout the body and eosinophil infiltration in gastrointestinal tract, lymph nodes and other organs were retrospectively analyzed, and the relevant literature was reviewed. The patient was Ph chromosome positive with chromosome +8, and the common BCR::ABL1 transcript of CML was negative, but e6a2 transcript was positive detected by RT-PCR. The patient was treated with dasatinib 100 mg/d. Three months later, the patients achieved CHR, CCyR and MR4.0. However, the e6a2 transcript is very rare in clinical practice, and more cases of e6a2 transcript need to be studied to clarify its clinical characteristics and improve the treatment effect of these rare cases.

Objective:To explore the effect of adult growth hormone deficiency on cognitive function in adults.Methods:A total of 19 hypophyseal or craniopharyngioma patients who underwent surgical treatment and were diagnosed with adult growth hormone deficiency in Department of Endocrinolog, the Second Affiliated Hospital, School of Medicine, Zhejiang University from June 2017 to June 2018 were selected as the case group, and 19 normal people were included as the control group. All the members were assessed with the cognitive function scale and brain functional magnetic resonance examination, data between the groups were analyzed.Results:The body weight within a year of case group was significantly increased than that of the control group( P=0.017). Compared with the control group, the case group was relatively inattentive and had decreased memory(Time of stroop color words test-a, test-c, and trail-making test-A, P values were 0.009, 0.018, 0.020 respectively; Auditory word learning test N6, P=0.008). The executive function and language ability of the case group were weakened compared with the control group(Raven′s matrices score E1-E12, P=0.022; Time cost and the number of arrivals in 1 min of connection test B, P values were 0.023, 0.004; Symbol digit modalities test, P=0.037; The number of words spoken in 46-60 s and total number in 0-60 s of the case group was less than the control, P values were 0.030, 0.006). The general mental state of the case group was worse than the control group( P=0.018). The accuracy of the 2-back task of the case group was significantly lower and the activation signal of the left frontal lobe in the case group was significantly weaker( P<0.005). Conclusions:Adult growth hormone deficiency may increase obesity risk and have a detrimental influence on patients′ overall mental health, resulting in varying degrees of cognitive impairment. Working memory impairments associated with adult growth hormone deficiency may be a result of decreased frontal lobe brain activity.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

Although primary vesical calculi is an ancient disease, the mechanism of calculi formation remains unclear. In this study, we established a novel primary vesical calculi model with d,l-choline tartrate in mice. Compared with commonly used melamine and ethylene glycol models, our model was the only approach that induced vesical calculi without causing kidney injury. Previous studies suggest that proteins in the daily diet are the main contributors to the prevention of vesical calculi, yet the effect of fat is overlooked. To assay the relationship of dietary fat with the formation of primary vesical calculi, d,l-choline tartrate-treated mice were fed a high-fat, low-fat, or normal-fat diet. Genetic changes in the mouse bladder were detected with transcriptome analysis. A high-fat diet remarkably reduced the morbidity of primary vesical calculi. Higher fatty acid levels in serum and urine were observed in the high-fat diet group, and more intact epithelia in bladder were observed in the same group compared with the normal- and low-fat diet groups, suggesting the protective effect of fatty acids on bladder epithelia to maintain its normal histological structure. Transcriptome analysis revealed that the macrophage differentiation-related gene C-X-C motif chemokine ligand 14 (Cxcl14) was upregulated in the bladders of high-fat diet-fed mice compared with those of normal- or low-fat diet-fed mice, which was consistent with histological observations. The expression of CXCL14 significantly increased in the bladder in the high-fat diet group. CXCL14 enhanced the recruitment of macrophages to the crystal nucleus and induced the transformation of M2 macrophages, which led to phagocytosis of budding crystals and prevented accumulation of calculi. In human bladder epithelia (HCV-29) cells, high fatty acid supplementation significantly increased the expression of CXCL14. Dietary fat is essential for the maintenance of physiological functions of the bladder and for the prevention of primary vesical calculi, which provides new ideas for the reduction of morbidity of primary vesical calculi.

Objective:To summarize and analyze the clinical treatment of aspergillus infection in the central nervous system.Methods:Data was obtained from a recipient who were diagnosed with invasive aspergillosis in the central nervous system after liver transplantation.We retrospectively analyzed the clinical character of the recipient." Liver transplantation" , " Aspergillus" , " brain" and " aspergillus" were searched for literature published in English or Chinese in Wanfang data, CNKI and PubMed database for nearly 5 years until January 2022.Results:A 33 years old recipient was admitted to the hospital with fatigue, chest distress and shortness of breath after liver transplantation on postoperative day(POD)48.On the computed tomography(CT)scan of the chest, multiple exudative lesions was observed in both lungs.Multiple sputum cultures were grown as Candida albicans.The symptoms of chest tightness and shortness of breath were significantly improved by treating with caspofungin compared before.On POD 79, the recipient developed stubborn nausea and vomiting.Cranial enhanced magnetic resonance imaging(MRI)showed central nervous system(CNS)infection.Numerous traditional pathogenic microorganisms tests of cerebrospinal fluid(CSF)were all negative.With the help of metagenomics next generation sequencing(mNGS), aspergillus fumigatus was detected in CSF.The recipient received therapy with voriconazole and rehabilitation.Therapy with voriconazole was continuous for 8 months.Unfortunately, the recipient developed cholestasis due to repeated biliary infection and eventually died of liver failure 13 months later.Conclusions:Although the mortality rate of aspergillus infection in the central nervous system is very high after liver transplantation, timely and effective treatment is still expected to improve its prognosis.

Objective:To summarize the patient profiles and therapeutic efficacies of ABO-incompatible living-related kidney transplantations at 19 domestic transplant centers and provide rationales for clinical application of ABOi-KT.Methods:Clinical cases of ABO-incompatible/compatible kidney transplantation (ABOi-KT/ABOc-KT) from December 2006 to December 2009 were collected. Then, statistical analyses were conducted from the aspects of tissue matching, perioperative managements, complications and survival rates of renal allograft or recipients.Results:Clinical data of 342 ABOi-KT and 779 ABOc-KT indicated that (1) no inter-group differences existed in age, body mass index (BMI), donor-recipient relationship or waiting time of pre-operative dialysis; (2) ABO blood type: blood type O recipients had the longest waiting list and transplantations from blood type A to blood type O accounted for the largest proportion; (3) HLA matching: no statistical significance existed in mismatch rate or positive rate of PRA I/II between two types of surgery; (4) CD20 should be properly used on the basis of different phrases; (5) hemorrhage was a common complication during an early postoperative period and microthrombosis appeared later; (6) no difference existed in postoperative incidence of complications or survival rate of renal allograft and recipients at 1/3/5/10 years between ABOi-KT and ABOc-KT. The acute rejection rate and serum creatinine levels of ABOi-KT recipients were comparable to those of ABOc-KT recipients within 1 year.Conclusions:ABOi-KT is both safe and effective so that it may be applied at all transplant centers as needed.

Objective: The purpose of this study is to explore the biological function of long non-coding RNA (lncRNA) HMMR-AS1 in proliferation and metastasis of lung adenocarcinoma (LUAD). Methods: Real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) was used to detect the expression of HMMR-AS1 and its sense strand HMMR in LUAD cell lines. Then we knock down the HMMR-AS1 expression through small interfering RNA and evaluate the transfection efficiency and its effect on the expression of HMMR. CCK-8 (cell counting kit), clone formation, flow cytometric analysis, wound scratch assay and transwell assay were used to assess the biological function of A549 and H1299 cells. Western blot was used to detect the protein expression of HMMR in the two cell lines after transfection with si-HMMR-AS1. Results: The expression of HMMR-AS1 in A549 and H1299 cells of LUAD cell line was markedly higher than that in normal lung epithelial cell BEAS-2A by upregulating approximately 3.06 and 5.02 folds (P＜0.05), respectively. After transfection with si-HMMR-AS1, the expression of HMMR-AS1 markedly reduced in both levels of transcription and protein (P＜0.05). Furthermore, knocking down of HMMR-AS1 significantly inhibited the proliferation, migration and invasion abilities, and increased the apoptosis rates of A549 and H1299 cells. Conclusion LncRNA HMMR-AS1 could promote malignant progression of LUAD cells through enhancing the growth, migration and invasion ability of LUAD cells.

Objective? To explore the application of information technology in continuous nursing after laparoscopic gastrointestinal tumor surgery. Methods? Using convenient sampling method, we selected a total of 118 patients who underwent laparoscopic gastrointestinal tumor surgery at the Second Affiliated Hospital of Fujian Medical University from April 2015 to April 2017. They were randomly assigned into the control group and the observation group, with 59 cases in each group. Patients in the control group were treated with traditional continuous care, while patients in the observation group were treated with information technology integrated continuous care. Self-efficacy and quality of life before and after intervention were compared between the two groups using the Chinese version of the Cancer Self-Efficacy Assessment Scale and the European Five-Dimensional Health Scale. Results? There was no significant difference in self-efficacy between the two groups before intervention (P＞0.05). The overall and different dimensions of self-efficacy of the patients in the observation group were higher than those in the control group (P＜ 0.01). There was no significant difference in quality of life between the two groups before intervention (P＞0.05). The daily activity and self-care ability of the observation group were higher than those of the control group (P＜0.05). Conclusions? Compared with traditional continuous care, information technology based continuous care can improve the self-efficacy and quality of life of patients undergoing laparoscopic gastrointestinal tumor surgery, and its promotion is worthwhile.

Objective To investigate the relationship between the onset of cerebral infarction in anterior and posterior circulation and the "three high" risk factors in Guangzhou communities. Methods From Jan. 2014 to Jan.2016,367 patients from Guangzhou communities were diagnosed with new cerebral infarction by head diffu-sion weighted imaging(DWI).The data were divided into two groups of anterior and posterior circulation,and uni-variate and multivariate methods were used to analyze the relationship between the "three high" and other risk factors and the onset of cerebral infarction in anterior and posterior circulation.The data of anterior circulation cere-bral infarction were further divided into two subgroups of lacunar and non-lacunar infarction,and the same statisti-cal methods were employed to analyze differences of risk factors between the two subgroups. Results The frequen-cies of hypertension(P = 0.040)and large atherosclerotic infarction(P = 0.012)were significantly higher,and the serum high-density lipoprotein(HDL)level(P = 0.045)was significantly lower in posterior circulation than those in anterior circulation,respectively;and the onset of posterior circulation cerebral infarction was more associ-ated with the incidence of hypertension(OR = 1.767,P = 0.035)and the decrease of HDL(OR = 0.380,P =0.021). In anterior circulation,the levels of systolic blood pressure(SBP)(P = 0.011)and diastolic blood pres-sure(DBP)(P=0.000),as well as the frequency of large atherosclerotic infarction(P=0.000)in non-lacunar infarction subgroup were significantly higher than those in lacunar infarction subgroup respectively,and the onset of non-lacunar infarction was more closely related to increased SBP levels(OR=1.045,P=0.001). Conclusions Among the"three high"risk factors,the onset of posterior circulation cerebral infarction is more closely related to the incidence of hypertension and the decrease of HDL.In anterior circulation,and the onset of non-lacunar infarc-tion is more closely related to the increased levels of DBP and SBP,especially to the elevated levels of SBP.