Objective:To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP).Methods:A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c. 942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 942G>C variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP1). Conclusion:The c. 942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.

Objective To study the action and mechanism of Sancai Lianmei Particle on cell apoptosis of liver cells in Type 2 Diabetes Mellitus(T2DM)combined with Non-alcoholic Fatty Liver Disease(NAFLD).Methods High fat and sugar + STZ induced diabetic with fatty liver rats used as models,intervention with Sancai Lianmei Particle,intraperitoneal glucose tolerance test(IPGTT)to assess insulin resistance,ELISA method to detect the mice serum biochemistry,insulin levels;ELISA method to detect inflammatory factors in liver homogenate;SOD and MDA levels were monitored to assess the degree of oxidative stress;ASK1/JNK/NF-κB mRNA expression in liver tissue was monitored by Real-time PCR;apoptotic-related proteins were detected by Western blot,apoptosis of hepatocytes was assayed by TUNEL;HE staining was conducted to observe the liver tissue.Results Sancai Lianmei Particle can obviously reduce the body weight of T2DM with NAFLD model rats;reduce the levels of GHb,INS,TC,TG,LDL-C,ALT,AST,IL-1β,IL-6,TNF-α,MDA;improve insulin resistance and oxidative stress.HE staining of liver tissue showed that Sancai Lianmei Particle could alleviate the vacuolar degeneration of liver and deposition of lipid droplets.Sancai Lianmei Particle can effectively down-regulate the expressions of ASK1,JNK and NF-κB mRNA in liver tissues of model rats.Western Blot results exhibited that Sancai Lianmei Particle could significantly regulate the expression of apoptotic proteins of Bax,Caspase-3,and Bcl-2 and inhibit the apoptosis of hepatocytes.Conclusion This study proved that Sancai Lianmei Particle can improve hepatic insulin resistance and oxidative stress,slow the progression of NAFLD by regulating liver cell apoptosis based on ROS-ASK1-JNK/NF-κB pathway.

OBJECTIVE: To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS). METHODS: A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4). CONCLUSION Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
Pregnancy ; Child ; Female ; Humans ; Walker-Warburg Syndrome ; Prenatal Diagnosis ; Fetus ; Genetic Counseling ; Genomics ; Mutation

Objective:To explore the classification characteristics of sense of work gain of diabetes specialist nurses in Anhui Province, and analyze the influencing factors among different latent profiles.Methods:From January to March 2023, 305 diabetes specialist nurses in Anhui Province were selected by convenience sampling. The nurses were surveyed using the General Information Questionnaire, Employees' Sense of Work Gain Scale, Role Stressors Scale, and Behavioral Trust Inventory. Latent profile analysis was used to explore the latent classes of sense of work gain of diabetes specialist nurses. Multi classification unordered Logistic regression was used to analyze influencing factors.Results:The sense of work gain of diabetes specialist nurses in Anhui Province could be divided into three latent profiles, including low gain-low salary satisfaction type, medium gain-medium to high dignity type, and high gain-high capacity perception type. Multi classification unordered Logistic regression analysis showed that age, participation in or hosting the project, role overload, perceived trust form superiors were the influencing factors of different latent classes of sense of work gain of diabetes specialist nurses, and the difference was statistically significant ( P<0.05) . Conclusions:There is heterogeneity in the sense of work gain of diabetes specialist nurses in Anhui Province. Nursing managers should intervene with different types of diabetes specialist nurses according to the influencing factors to improve their sense of work gain.

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

Objective? To investigate the correlation between insulin-related information literacy and insulin knowledge level of nurses in non-endocrinology department, and to explore the influencing factors of their insulin knowledge level. Methods? General Information Questionnaire, Information Literacy Questionnaire and Insulin Knowledge Questionnaire were used to investigate 437 clinical nurses in 31 non-endocrine departments of Southern District of Anhui Provincial Hospital. The influencing factors of insulin knowledge level of nurses were analyzed by single factor analysis, Pearson correlation analysis and multiple linear regression analysis. Results? The score of insulin-related information literacy of nurses in non-endocrinology department was (3.35±0.41) and insulin knowledge level was (19.37±3.22); Pearson correlation analysis indicated that the scores of insulin-related information literacy of nurses in non-endocrinology department were positively correlated with their insulin knowledge level (P＜ 0.05). Multivariate linear regression analysis indicated that whether or not the nurses had received insulin-related knowledge training, education level, working life, information awareness and information ability were all the influencing factors of insulin-related information literacy of non-endocrinological nurses (P＜ 0.05). Conclusions? The insulin knowledge of nurses in non-endocrinology department is in the upper and middle level. The information literacy of insulin related to nursing staff is closely related to the knowledge level of insulin. When administrators carry out insulin related knowledge training, on the one hand, they should focus on nurses in non-endocrinology department with low educational level and short working life, on the other hand, they should focus on improving nurse staff's insulin-related information literacy level.

Objective To analyze clinicopathologic features of sebaceoma. Methods Clinical, pathologic and immunohistochemical findings from 31 cases of sebaceoma were retrospectively analyzed. The clinicopathologic features of sebaceoma were investigated. Results There were 9 males and 22 females. The patients′ age was 53.90 ± 15.40 years, and the clinical course was 9.41 ± 13.75 years. Sebaceoma predominantly affected the face. The common lesion of sebaceoma was red, yellowish?red, skin?colored or slight brown papules, with no subjective symptoms in most cases. Histopathologically, neoplasms had symmetric structures, and were located in the dermis. Epidermal involvements were found in 9 cases. The neoplasm cells were mainly composed of basaloid cells, a few mature sebocytes and some transition cells. The proportion of mature sebocyts was less than 1%in 26 cases, less than 20%in 2 cases, and 20%-40%in 3 cases. Mitoses were occasionally found in 5 cases. One patient was complicated by eccrine poroma. Varying amounts of ducts were found in all the patients. Immunohistochemical staining showed that epithelial membrane antigen was expressed on ducts and mature sebocytes in all the patients, while epithelial antigen was undetected in any of the patients. Carcinoembryonic antigen, androgen receptor and D2?40 were found in 20, 24 and 28 patients with sebaceoma, respectively. Conclusions The diagnosis of sebaceoma mainly depends on histopathological examination. Combined immunohistochemical detection of epithelial membrane antigen, androgen receptor and D2?40 is beneficial to its differential diagnosis.

Objective To explore the effect of the transtheoretical model of health behavior change on initial insulin injection in elderly patients with type 2 diabetes mellitus. Methods Thirty elderly patients with type 2 diabetes, receiving traditional training of insulin injection , were recruited as control group ( n = 30 ) between December 2013 and March 2014 . Another 30 elderly patients with type 2 diabetes, who received an education program based on the transtheoretical model of health behavior change for insulin injection training ( 30 minutes for each time and 4 times in total ) , were recruited as experiment group ( n=30 ) between April 2014 and July 2014. The knowledge of insulin injection and the operational skills in the two groups were compared between the two groups. Result Both the knowledge and operational skills at insulin injection in the experiment group were significantly better than those in the control group (P<0.01). Conclusion The transtheoretical model of health behavior change can be significant for improving the operational skills at insulin injection and therefore it can be effective in controling of blood sugar.

OBJECTIVETo characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria.

METHODSBy stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene.

RESULTSThirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected.

CONCLUSIONPrenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Fetal Diseases ; diagnosis ; enzymology ; genetics ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Male ; Microsatellite Repeats ; Middle Aged ; Pedigree ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; diagnosis ; enzymology ; genetics ; Point Mutation ; Pregnancy ; Prenatal Diagnosis ; Young Adult

Objective To investigate the expressions of advanced glycosylation end products (AGE) in skin of mice with diabetes mellitus (DM) for different durations,and to evaluate their influence on collagen fibers.Methods Forty healthy 8-week-old male C57BL/6J mice were divided into DM group (n =20) and control group (n =20) to receive multiple intraperitoneal injections of low dose streptozotocin (50 mg/kg) and citric acid buffer (0.1 mol/L),respectively,for 5 consecutive days.Ten mice were sacrificed in each group on week 4 and 12 respectively after the last intraperitoneal injection,and full-thickness skin tissue samples were harvested from the middorsal region of each mouse.Then,hematoxylin-eosin (HE) staining was performed to observe histological changes,and total collagen content was estimated according to hydroxyproline content measured by an alkalinehydrolysis method.The cross-linking degree of collagen was determined by Edman degradation method using pepsin,the mRNA expression level of collagen type Ⅰ and Ⅲ by real-time quantitative PCR,the content of AGE by fluorospectrophotometry and Western blotting,and the level of malondialdehyde (MDA) by using a thiobarbituric acid method.Statistical analysis was carried out by t test.Results As light microscopy showed,the skin became obviously thinner in the diabetic mice with a progressive decrease in the number of collagen fibers in comparison with the control mice.On week 4 and 12 after the last injection,the diabetic mice exhibited a significant reduction in the content of hydroxyproline ((684.5 ± 76.7) vs.(787.7 ± 87.7) rg/g,(558.1 ± 73.1) vs.(757.8 ± 75.3) mg/g,both P ＜ 0.01) and in the levels of cross-linked collagen as well as mRNA expressions of collagen Ⅰ and Ⅲ (P ＜ 0.01 or 0.05),but a significant increase in the content of AGE ((37.47 ± 10.65) vs.(26.39 ± 3.74) AUF/mg hydroxyproline,(47.70 ± 5.66) vs.(29.91 ± 6.50) AUF/mg hydroxyproline,both P ＜ 0.01) and MDA ((6.62 ± 0.47) vs.(4.82 ± 0.56) μmol/L,(8.63 ± 0.36) vs.(5.15 ± 0.46) μmol/L,both P＜ 0.01) in skin tissue,compared with the control mice.The level of non-cross-linked collagen in skin tissue was also lower in the diabetic mice than in the control mice on week 12 (P ＜ 0.05).Moreover,the contents of hydroxyproline and the expression levels of collagen I in skin were significantly lower (P ＜ 0.05),but the levels of AGE and MDA were significantly higher (P ＜ 0.01) in the diabetic mice on week 12 than in those on week 4.Conclusions The characteristics of collagen fibers in skin are altered in diabetic mice when compared with normal control mice,which may be associated with increased AGE content and oxidative injury in skin.