Objective:To summarize the clinical phenotype and genetic characteristics of a case of autosomal dominant mental retardation-42 (MRD42) caused by GNB1 gene mutation. Methods:The clinical and genetic data of a case of MRD42 caused by a GNB1 gene missense mutation diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2023 were retrospectively analyzed. The child was followed-up, the child′s data were summarized, and related literature was reviewed. Results:The patient is a 6-month-old female infant, who was admitted to hospital because of "developmental delay for 3 months, intermittent convulsions for 1 month". The clinical manifestations included generalized tonic-clonic seizures, focal seizures, intellectual disability, delayed language and motor development. Long-term video electroencephalogram showed slightly slower background activity, bilateral occipital spike and wave discharges, multispike and wave complexes during sleep. Three focal onset seizures were captured. Cranial magnetic resonance imaging suggested that the subarachnoid space of the bilateral frontotemporal areas was slightly wide. Chromosome karyotype and copy number variation analysis showed no abnormality. The results of whole exon sequencing showed a de novo heterozygous missense mutation in the GNB1 gene [NM_002074:c.155(exon5)G>A;p.Arg52Gln], which had not been reported. The seizure was effectively controlled by function rehabilitation training and anti-epileptic drug therapy. Conclusions:MRD42 is a rare autosomal dominant disorder caused by mutation in the GNB1 gene. The clinical manifestations include infantile-onset seizures, mental retardation, speech and motor development delay, etc. The de novo heterozygous missense mutation in the GNB1 gene c.155G>A(p.Arg52Gln) is the genetic cause of the proband.

Objective:To construct a transcultural nursing competency framework for master of nursing specialist, providing reference for the cultivation and evaluation of transcultural nursing competency for master of nursing specialist.Methods:From December 2022 to March 2023, based on the cultural awareness, cultural skill, cultural knowledge, cultural encounter and cultural desire (ASKED) model of cultural competency and the group discussion, a preliminary pool of transcultural nursing competency elements for master of nursing specialist was formed using literature analysis, questionnaire survey, and semi-structured interviews. From April to July 2023, purposive sampling was used to select 20 nursing experts from universities and their affiliated hospitals in seven provinces, autonomous regions, and municipalities including Guangdong Province, Guangxi Zhuang Autonomous Region, Beijing City, Zhejiang Province, Hebei Province, Hunan Province, and Shaanxi Province as consultant experts. The transcultural nursing competency framework for master of nursing specialist was established using the Delphi method.Results:A total of 17 experts completed two rounds of consultation. The positive coefficients of the two rounds of expert consultation were 85.00% (17/20) and 100.00% (17/17), respectively. The authority coefficients of the two rounds of consultant experts were 0.826 and 0.878, respectively. The Kendall harmony coefficients for the first and second level elements in the second round of expert consultation were 0.302 ( P<0.01) and 0.304 ( P<0.01). After two rounds of expert consultations, a transcultural nursing competency framework for master of nursing specialist was established, which included five first-level elements of cultural awareness, cultural attitude, cultural knowledge, cultural skills, and cultural interaction, as well as 21 second-level elements. Conclusions:The transcultural nursing competency framework for master of nursing specialist is scientific and reliable, which can provide reference for formulating transcultural nursing competency standards for master of nursing specialist and lay a foundation for improving their cross-cultural nursing competency.

Objective To explore the association between iron metabolism indexes and the risk of gestational diabetes mellitus(GDM)in pregnant women with advanced age.Methods A total of 292 pregnant women,whose age were≥35 years old and gave birth in Taicang First People's Hospital from April 2021 to April 2023,were retrospectively included and divided into GDM group and non-GDM group.The differences of iron metabolism indexes[serum ferritin(SF),serum iron(SI)and hemoglobin(Hb)]measured from the 20 to 24 weeks of gestation were compared between the two groups.Multivariable Logistic regression model was used to explore the association of SF,SI and Hb with GDM.Based on the data of single nucleotide polymorphism from IEU OpenGWAS(http://gwas.mr-cieu.ac.uk/)and FinnGen datasets,two samples Mendelian randomization analysis were conducted to explore the causal relationship between iron metabolism indexes and GDM by using the methods of Inverse Variance Weighted(IVW).Results In the maximally ad-justed multi-factor logistic models,the statistically significant association between SF measured from 20 to 24 weeks of gestation and the risk of GDM was found[odds ratio(95％confident interval)=1.02(1.01-1.04),P=0.001].The association between Hb and GDM was marginally significant[odds ratio(95％confident interval)=1.04(1.00-1.07),P=0.044],but no association between SI and GDM reached statistical significance.However,Mendelian randomization analysis showed there was no significant evidence for causal association between SF,Hb and GDM.Conclusion SF examined at 20 to 24 weeks of gestation could be used as a biomarker of GDM in the pregnant women with advanced age,but no evidence supported the causal association between SF and GDM.

Objective:To explore the correlation between frailty and foot care behavior in elderly patients with high-risk diabetic foot.Methods:From January to June 2022, 220 patients with high-risk diabetic foot who were admitted to the Department of Endocrinology and Department of Geriatrics of Xuanwu Hospital of Capital Medical University were selected by convenience sampling as the research object. The patients were investigated with the General Information Questionnaire, Gavin's Weighted Scale for Diabetic Foot Risk Factors for Progression to Ulceration, the Chinese version of the Frail Scale and the Foot Care Behavior Questionnaire for Diabetic Patients. Spearman correlation analysis was used to explore the correlation between frailty and foot care behavior in elderly patients with high-risk diabetic foot. Multiple linear regression was used to analyze the influencing factors of foot care behavior in elderly patients with high-risk diabetic foot. A total of 220 questionnaires were distributed, and 210 valid questionnaires were collected, with an effective response rate of 95.45% (210/220) .Results:The standardized score of the Foot Care Behavior Questionnaire for Diabetic Patients among 210 elderly patients with high-risk diabetic foot was (56.65±11.27), which was in the middle to low level. Among them, 126 patients (60.00%) were at a low level, and 80 patients (38.10%) were at a middle level. The incidence of frailty in 210 elderly patients with high-risk diabetic foot was 27.14% (57/210). The results of correlation analysis showed that the frailty score of elderly patients with high-risk diabetic foot were negatively correlated with the scores of the foot and footwear examination, foot cleaning and maintenance, footwear selection, and the total score of Foot Care Behavior Questionnaire for Diabetic Patients ( P<0.05). The results of multiple linear regression analysis showed that gender, frailty, foot risk classification and living conditions were the influencing factors of foot care behavior in elderly patients with high-risk diabetic foot ( P<0.05) . Conclusions:The foot care behavior of elderly patients with high-risk diabetic foot needs to be improved. The higher the degree of frailty, the lower the level of foot care behavior. Medical and nursing staff should formulate targeted intervention measures according to the characteristics of patients to improve or delay the progression of patients' frailty, thereby improving their foot care behavior and preventing the occurrence of diabetic foot.

【Objective】 To investigate the activity level of coagulation factor Ⅺ(FⅪ) in IVIG products, which would provide support for improving the safety and quality control of IVIG products in China. 【Methods】 A total of 71 batches of IVIG products(half of which were closed to expiry date) from 23 domestic manufacturers (brands) were submitted for inspection and assayed for procoagulant activity including FⅪa, FⅪ and NAPTT activity with a chromogenic assay, coagulation proenzymes levels using one stage clotting assays and non-activated partial thromboplastin time (NAPTT). 【Results】 FⅪa(mIU/mL): 32 lots of IVIGs from 15 manufacturers(brands) possessed activities below 0.1 or the detection limit of the assays, 24 IVIG lots from 12 manufacturers were between 0.1~1(0.39±0.20), the remaining 15 IVIG lots from 6 manufacturers had FⅪa activity greater than 1 up to 47(13.27±15.61). FⅪ(mIU/mL): there were no detectable activities of FⅪ in 58 lots from 21 manufacturers, the other 13 lots from 6 manufacturers had IVIGs between 13~309(69.0±98.1), which included in 15 lots of IVIG whose FⅪa activity were greater than 1mIU/mL. NAPTT(s): The coagulation times for aforementioned 15 IVIG lots were all above 150s in the NAPTT test. The NAPTT ratios varied between 0.67 and 0.94(0.83±0.07), and 7 of 15 IVIGs had NAPTT ratios below or equal to 0.8. 【Conclusion】 There are substantial differences in the FⅪ and FⅪa activities in the IVIG preparations from 23 different manufacturers. Most of them had a lower activities; certain lots from specific manufacturers had relatively higher FⅪa activities. Manufactures should evaluate the manufacturing processes and monitor IVIG preparations for the presence of factor Ⅺ-like activity in case of thrombotic risks.

Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

Objective:To explore the effects of trust-building in nebulized inhalation nursing for bronchopneumonia children.Methods:From January 2017 to February 2018, we selected 96 bronchopneumonia children with nebulized inhalation in the First People's Hospital of Shangqiu. All children were randomly divided into observation group and control group with the block randomization, 48 cases in each group. Children of two groups were all treated with the nebulized inhalation and routine nursing after admission. On the basis of this, observation group established trust with the children and then implemented the nebulized inhalation. We compared the length of hospitalization, symptom relief time, hospitalization expense as well as treatment compliance of children between two groups.Results:The length of hospitalization, symptom relief time, hospitalization expense of children, and the number of crying in observation group were lower than those in control group, the score of subjective compliance of children in observation group was higher than that in control group, the differences were all statistical differences ( P<0.05) . The pulmonary function indexes in observation group were higher than those in control group, and the differences were statistically significant ( P<0.05) . Conclusions:Implementation of trust-building in nebulized inhalation nursing for bronchopneumonia children can reduce the length of hospitalization and symptom relief time, and improve the lung function as well as treatment compliance of children which is worthy of popularization.

Objective To observe the features of fetus unilateral pulmonary agenesis in antenatal ultrasonography and analyse the causes of misdiagnosed,so that fetus unilateral pulmonary agenesis can be known more deeply.Methods From January 2012 to October 2017,8 fetuses underwent prenatal ultrasound examination of fetal system in Guangdong Maternal and Child Health Hospital.The prenatal ultrasound data and postnatal clinical data were retrospectively analyzed.Results Among 8 cases of unilateral pulmonary agenesis,there were 4 males and 4 females,5 cases involving right lung,3 cases involving left lung,3 cases of single lung absence,and 5 cases combined with other deformities.There were 4 cases of induced labor,and 4 cases of surviving children were confirmed unilateral pulmonary agenesis by chest computed tomography (CT) examination.2 cases of missed prenatal diagnosis were left pulmonary agenesis,including 1 case only found left pulmonary artery absence and 1 case only found left axis deviation and cardiac enlargement before delivery.Conclusions Cardiac displacement and absence of left or right pulmonary artery are important clues for prenatal ultrasound diagnosis of fetal unilateral pulmonary absence.Prenatal ultrasound is the preferred method to detect and diagnose fetal unilateral pulmonary absence.

OBJECTIVE To develop a new method for detecting 22q11.2 deletion syndrome (22q11.2 DS) in clinical settings. METHODS Specific primers and fluorescence probes were designed to target the TBX1 gene within the 22q11.2 deletion region and a reference gene RPP30. Multiplexed droplet digital PCR (ddPCR) was run to detect the 22q11.2 microdeletion by calculating the ratio of positive droplet number of TBX1/RPP30. RESULTS Three cases of 22q11.2 microdeletion previously confirmed by array comparative genome hybridization were successfully identified. Subsequently, the ddPCR detected two further cases of 22q11.2 microdeletion among 14 children with congenital heart diseases. CONCLUSION The ddPCR technique has provided a rapid and cost-effective method for detecting 22q11.2 microdeletion in clinical settings.

Objective To explore the technique and significance of intraoperative neuromonitoring (IONM) for scarless in the neck endoscopic thyroidectomy (SET) via breast approach.Methods From Apr.2015 to Oct.2015,101 consecutive patients undergoing SET with IONM were included.During the operation,patients received radical resection of the thyroid cancer by Wang's seven-step method.The lymph nodes in the central area were dissected and Wang's multi-functional separation forceps were implemented for recurrent laryngeal nerve (RLN) positioning,monitoring and protection.Also,time required for RLN positioning and exposure,postoperative transient and permanent RLN damage incidence were calculated to assess the feasibility of IONM under SET.Results Among 101 patients,130 RLNs in total were exposed.The average time required for RLN positioning under IONM was (3.26 ± 1.08)min,with round-nerve management time of (13.95 ± 4.58)min.Nerve signal change happened in 16.9％(22/130) patients.Positive predictive value was 13.6％ and negative predictive value was 100％.The overall accuracy rate was 85.4％.Conclusion IONM during SET is feasible,and can be helpful for the localization and functional protection of RLN and was useful to predict vocal cord paralysis.