[This corrects the article DOI: 10.1016/j.apsb.2022.05.019.].

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OBJECTIVE: To explore the spectrum of genetic variants and phenotypes of Phenylalanine hydroxylase deficiency (PAHD) in Lianyungang area and the correlation between genotype and phenotypes among the patients. METHODS: Eighty children with Hyperphenylalaninemia (HPA) diagnosed at the Lianyungang Branch of Jiangsu Provincial Newborn Screening Center between January 2015 and December 2022 were enrolled. Peripheral blood samples were collected for genetic analysis using next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) to identify the variants of PAH gene. Clinical and phenotypic data were concurrently analyzed to investigate the correlation between the types of PAH gene variant and phenotypes. This study was approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No.: XM2022041). RESULTS: PAH gene variants were identified in 93.75% (75/80) of the children, classified as PAHD cases, while 6.25% (5/80) harbored PTS gene variants. Of the 150 PAH alleles from 75 PAHD children, a total of 152 variants (55 distinct types) were detected, with a detection rate of 100%. 80.26% (122/152) of the variants were located in exons, with the main types being missense variants (67.11%, 102/152). 53.29% (81/152) of coding sequence variants have occurred in the PAH gene's catalytic center region, while 19.74% (30/152) of the variants involved non-coding sequences. The phenotypes of the 75 PAHD children were evenly distributed. The re-screened Phe concentrations and Phe/Tyr ratios of classic-phenylketonuria (CPKU) and mild-phenylketonuria (MPKU) patients were markedly higher than initial screening values (P < 0.001, P < 0.001; P = 0.004, P = 0.016). The genotypes of the PAHD patients mostly occurred as compound heterozygotes, and different mutation positions and variant types have significantly affected the phenotypes (P = 0.042, P = 0.045). APV/GPV genotype-phenotype analysis of 61 patients showed high consistency between predicted and actual phenotypes (κ = 0.755, P < 0.001). CONCLUSION PAH gene variants were detected in most HPA children from Lianyungang area. The location and type of PAH gene variants has correlated with the severity of the phenotype, and the non-coding sequence variants and non-missense variants may aggravate the phenotype, and the APV/GPV model has predicted the phenotype with high consistency with the actual phenotype.
Humans ; Phenylalanine Hydroxylase/genetics* ; Female ; Phenylketonurias/enzymology* ; Male ; Phenotype ; Genotype ; Child ; Infant ; Infant, Newborn ; Child, Preschool ; China ; Mutation ; Alleles

Objective In this study,the potential profile characteristics of exercise self-efficacy of patients with inflammatory bowel disease(IBD)were explored,and the influencing factors of different types of patients were an-alyzed,so as to provide a reference for nurses to formulate standardized management measures.Methods From June 2023 to May 2024,a total of 342 hospitalized patients with IBD in tertiary A hospital in Wuxi were recruited as research subjects by a convenience sampling method.The General Information Questionnaire,Exercise Self-effica-cy Scale,Exercise Behavioral Stage Distribution Scale and the Social Support Rating Scale were used for investiga-tion.The latent profile analysis was conducted to classify exercise self-efficacy levels,while multiple Logistic regres-sion analysis was utilized to evaluate the influencing factors.Results A total of 320 valid questionnaires were col-lected,and the effective questionnaire recovery rate was 93.57％.The total score of exercise self-efficacy for IBD pa-tients was(64.61±14.83)points.The exercise self-efficacy was classified into 3 latent categories:low efficacy-somatic emotion group(n=64,20.00％),medium efficacy-work conflict group(n=158,49.38％),and high efficacy-social interfer-ence group(n=98,30.62％).Occupation,recurrence times,comorbid chronic diseases,self-assessed economic pressure,and social support level were found to be influencing factors of the latent profile classification of exercise self-effi-cacy in IBD patients(P＜0.05).Conclusion The levels of exercise self-efficacy of patients with IBD are significant-ly heterogeneous,and there are several important influencing factors.Nursing staff should formulate targeted inter-vention strategies based on the characteristics of exercise self-efficacy in such patients,so as to improve patients' exercise self-efficacy and the effectiveness of disease rehabilitation.

Objective:To explore the spectrum of genetic variants and phenotypes of Phenylalanine hydroxylase deficiency (PAHD) in Lianyungang area and the correlation between genotype and phenotypes among the patients.Methods:Eighty children with Hyperphenylalaninemia (HPA) diagnosed at the Lianyungang Branch of Jiangsu Provincial Newborn Screening Center between January 2015 and December 2022 were enrolled. Peripheral blood samples were collected for genetic analysis using next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) to identify the variants of PAH gene. Clinical and phenotypic data were concurrently analyzed to investigate the correlation between the types of PAH gene variant and phenotypes. This study was approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No.: XM2022041). Results:① PAH variants were identified in 93.75% (75/80) of the children, classified as PAHD cases, while 6.25% (5/80) harbored PTS variants. ② Of the 150 PAH alleles from 75 PAHD children, a total of 152 variants (55 distinct types) were detected, with a detection rate of 100%. 80.26% (122/152) were located in exons, with the main types of variants were missense variants (67.11%, 102/152). 53.29% (81/152) of coding sequence variants occurred in the PAH gene catalytic center region of PAH protein, while 19.74% (30/152) of variants involved non-coding sequences. ③The phenotypes of the 75 PAHD children were evenly distributed. The rescreening Phe concentrations and Phe/Tyr ratios of classic-phenylketonuria (CPKU) and mild-phenylketonuria (MPKU) patients were markedly higher than initial screening values ( P<0.001, P<0.001; P=0.004, P=0.016). The genotypes of the PAHD patients mostly occurred as compound heterozygotes, and different mutation positions and variant types significantly affect the phenotype ( P=0.042, P=0.045). ④APV/GPV genotype-phenotype analysis of 61 patients showed high consistency between predicted and actual phenotypes ( κ=0.755, P<0.001). Conclusion:PAH variants were detected in the most of HPA children in Lianyungang area. The location and type of PAH variants were related to the severity of the phenotype, and the non-coding sequence variants and non-missense variants may aggravate the phenotype, and the APV/GPV model predicted the phenotype was highly consistent with the actual phenotype.

Objective This study aims to compare the efficacy of video stylets and video laryngoscopes in facilitating nasotracheal intubation during oral surgery.Methods A total of 80 patients,aged between 18 and 70 years old,with ASA grade Ⅰ or Ⅱ,scheduled for elective oral surgery under general anesthesia,were randomly assigned to either the video stylet group(Group N)or the video laryngoscope group(Group C),with 40 patients in each group.In Group N,a video stylet was used to shape the tracheal tube at a 90-degree angle,with the shaping position being the vertical distance from the Adam's apple to the nostril.The tube was inserted from the nasal cavity into the throat under direct visualization,and positioned behind the glottis.In Group C,the tube was initially blindly inserted into the nasal cavity without a core.Upon reaching the throat,a video laryngoscope was employed to lift the epiglottis and expose the glottis from the mouth.The tube was then inserted with the aid of intubation forceps or cuff inflation.The primary outcome measure was the intubation time.Additional measures included the time taken for nasal passage,glottis exposure,and the number of intubation attempts and assistant interventions required.Vital signs,including MAP and HR,were recorded at five minutes of quiet rest upon entering the room(T0),during glottis exposure(T1),upon passage of the tube through the glottis(T2),and one minute after the tube entered the trachea(T3).Complications such as epistaxis,oral mucosal bleeding,loose incisors,and postop-erative sore throat were also documented.Results The intubation time and nasal passage time in Group N were significantly shorter than those in Group C(P<0.05).The number of cuff inflations and intubation forceps assisted cases in Group N was significantly lower than in Group C(P<0.05).There were no significant differences between the two groups in terms of glottis exposure time,first successful intubation times,C-L glottis classification,and mandibular lift-assisted intubation(P>0.05).The increase in MAP and HR in Group N at T1 and T2 was signifi-cantly less than in Group C(P<0.05).The number of cases with mild epistaxis in Group N was significantly lower than in Group C(P<0.05).Similarly,the number of cases with loose incisors and oral mucosal bleeding in Group N was significantly less than in Group C(P<0.05).Conclusion Compared to the video laryngoscope,the video stylet-guided nasotracheal intubation results in a shorter intubation time,less damage to the oronasopharynx,eliminates the need for intubation forceps,and reduces the patient's stress and vascular stress response during intubation.

Objective This study aims to compare the efficacy of video stylets and video laryngoscopes in facilitating nasotracheal intubation during oral surgery.Methods A total of 80 patients,aged between 18 and 70 years old,with ASA grade Ⅰ or Ⅱ,scheduled for elective oral surgery under general anesthesia,were randomly assigned to either the video stylet group(Group N)or the video laryngoscope group(Group C),with 40 patients in each group.In Group N,a video stylet was used to shape the tracheal tube at a 90-degree angle,with the shaping position being the vertical distance from the Adam's apple to the nostril.The tube was inserted from the nasal cavity into the throat under direct visualization,and positioned behind the glottis.In Group C,the tube was initially blindly inserted into the nasal cavity without a core.Upon reaching the throat,a video laryngoscope was employed to lift the epiglottis and expose the glottis from the mouth.The tube was then inserted with the aid of intubation forceps or cuff inflation.The primary outcome measure was the intubation time.Additional measures included the time taken for nasal passage,glottis exposure,and the number of intubation attempts and assistant interventions required.Vital signs,including MAP and HR,were recorded at five minutes of quiet rest upon entering the room(T0),during glottis exposure(T1),upon passage of the tube through the glottis(T2),and one minute after the tube entered the trachea(T3).Complications such as epistaxis,oral mucosal bleeding,loose incisors,and postop-erative sore throat were also documented.Results The intubation time and nasal passage time in Group N were significantly shorter than those in Group C(P<0.05).The number of cuff inflations and intubation forceps assisted cases in Group N was significantly lower than in Group C(P<0.05).There were no significant differences between the two groups in terms of glottis exposure time,first successful intubation times,C-L glottis classification,and mandibular lift-assisted intubation(P>0.05).The increase in MAP and HR in Group N at T1 and T2 was signifi-cantly less than in Group C(P<0.05).The number of cases with mild epistaxis in Group N was significantly lower than in Group C(P<0.05).Similarly,the number of cases with loose incisors and oral mucosal bleeding in Group N was significantly less than in Group C(P<0.05).Conclusion Compared to the video laryngoscope,the video stylet-guided nasotracheal intubation results in a shorter intubation time,less damage to the oronasopharynx,eliminates the need for intubation forceps,and reduces the patient's stress and vascular stress response during intubation.

Objective In this study,the potential profile characteristics of exercise self-efficacy of patients with inflammatory bowel disease(IBD)were explored,and the influencing factors of different types of patients were an-alyzed,so as to provide a reference for nurses to formulate standardized management measures.Methods From June 2023 to May 2024,a total of 342 hospitalized patients with IBD in tertiary A hospital in Wuxi were recruited as research subjects by a convenience sampling method.The General Information Questionnaire,Exercise Self-effica-cy Scale,Exercise Behavioral Stage Distribution Scale and the Social Support Rating Scale were used for investiga-tion.The latent profile analysis was conducted to classify exercise self-efficacy levels,while multiple Logistic regres-sion analysis was utilized to evaluate the influencing factors.Results A total of 320 valid questionnaires were col-lected,and the effective questionnaire recovery rate was 93.57％.The total score of exercise self-efficacy for IBD pa-tients was(64.61±14.83)points.The exercise self-efficacy was classified into 3 latent categories:low efficacy-somatic emotion group(n=64,20.00％),medium efficacy-work conflict group(n=158,49.38％),and high efficacy-social interfer-ence group(n=98,30.62％).Occupation,recurrence times,comorbid chronic diseases,self-assessed economic pressure,and social support level were found to be influencing factors of the latent profile classification of exercise self-effi-cacy in IBD patients(P＜0.05).Conclusion The levels of exercise self-efficacy of patients with IBD are significant-ly heterogeneous,and there are several important influencing factors.Nursing staff should formulate targeted inter-vention strategies based on the characteristics of exercise self-efficacy in such patients,so as to improve patients' exercise self-efficacy and the effectiveness of disease rehabilitation.

Objective:To explore the spectrum of genetic variants and phenotypes of Phenylalanine hydroxylase deficiency (PAHD) in Lianyungang area and the correlation between genotype and phenotypes among the patients.Methods:Eighty children with Hyperphenylalaninemia (HPA) diagnosed at the Lianyungang Branch of Jiangsu Provincial Newborn Screening Center between January 2015 and December 2022 were enrolled. Peripheral blood samples were collected for genetic analysis using next generation sequencing (NGS), Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) to identify the variants of PAH gene. Clinical and phenotypic data were concurrently analyzed to investigate the correlation between the types of PAH gene variant and phenotypes. This study was approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No.: XM2022041). Results:① PAH variants were identified in 93.75% (75/80) of the children, classified as PAHD cases, while 6.25% (5/80) harbored PTS variants. ② Of the 150 PAH alleles from 75 PAHD children, a total of 152 variants (55 distinct types) were detected, with a detection rate of 100%. 80.26% (122/152) were located in exons, with the main types of variants were missense variants (67.11%, 102/152). 53.29% (81/152) of coding sequence variants occurred in the PAH gene catalytic center region of PAH protein, while 19.74% (30/152) of variants involved non-coding sequences. ③The phenotypes of the 75 PAHD children were evenly distributed. The rescreening Phe concentrations and Phe/Tyr ratios of classic-phenylketonuria (CPKU) and mild-phenylketonuria (MPKU) patients were markedly higher than initial screening values ( P<0.001, P<0.001; P=0.004, P=0.016). The genotypes of the PAHD patients mostly occurred as compound heterozygotes, and different mutation positions and variant types significantly affect the phenotype ( P=0.042, P=0.045). ④APV/GPV genotype-phenotype analysis of 61 patients showed high consistency between predicted and actual phenotypes ( κ=0.755, P<0.001). Conclusion:PAH variants were detected in the most of HPA children in Lianyungang area. The location and type of PAH variants were related to the severity of the phenotype, and the non-coding sequence variants and non-missense variants may aggravate the phenotype, and the APV/GPV model predicted the phenotype was highly consistent with the actual phenotype.

Objective To explore the predictive effect of empowerment and theory of planned behavior(TPB)on the four core behaviors of type 2 diabetes mellitus(T2DM)self-management,and analyze the influence path of TPB model and behavioral intention on the four core behaviors.Methods A total of 500 T2DM patients who were hospitalized in the Endocrinology Department of three tertiary general hospitals in different provinces from December 2022 to May 2023 were selected for investigation.Hierarchical multiple regression analysis was used to explore the predictive effects of empowerment and TPB models on self-management behaviors.Bootstrap method was used to analyze the influence path of TPB model and behavior intention on self-management behaviors.Results Empowerment had a predictive effect on self-management behavior,which was improved after the addition of TPB,with medication R2=0.194,blood glucose monitoring R2=0.308,regular diet R2=0.337 and regular exercise R2=0.343,respectively.Mediation effect analyses revealed that attitude,subjective norm,and perceived behavioral control were observed to predict behavior intention across the four behaviors,and the three except through the behavior intention indirectly affect behavior,can also directly affect the behavior.Conclusions Empowerment can predict self-management behavior,and adding TPB to this can improve the prediction effect.Attitude,subjective norms and perceived control can indirectly or directly affect self-management behavior through behavioral intention.