Objective:To investigate the clinical manifestations, pathological features, and genetic variant characteristics of children with glycogen storage disease type Ⅸa (GSD Ⅸa).Methods:A retrospective case series analysis was conducted to collected and analyzed the medical history, biochemical markers, liver ultrasound results, liver histopathological findings, genotypes, treatment regimens, and follow-up data of 4 pediatric patients diagnosed with GSD IXa in the Department of Infectious Diseases at Xiamen Children′s Hospital from January 2018 to May 2024. All patients were confirmed by genetic testing.Results:All 4 pediatric patients diagnosed with GSD Ⅸa were male. The ages of onset were 8 months, 2 years, 3 years and 3 months, 1 year and 5 months, respectively, with initial presentations including chronic diarrhea (Case 1), incidentally detected transaminase elevation during routine examinations (Cases 2 and 3), and delayed motor development (Case 4). Diagnosis was confirmed at ages 10 months, 3 years, 3 years 4 months and 1 year 6 months, respectively.At diagnosis, anthropometric parameters and biochemical profiles revealed:Height: 68 cm (< P3), 96 cm ( P25-50), 94 cm ( P3-10), and 94 cm ( P3-10).Weight: 7 kg (< P3), 17 kg ( P90-97), 14.4 kg ( P25-50), and 10.5 kg ( P25-50).Alanine aminotransferase: 299, 500, 271, and 313 U/L (reference range 0-40 U/L).Aspartate aminotransferase: 285, 543, 337 and 357 U/L (reference range 0-40 U/L).Fasting glucose: 2.80, 3.67, 2.98, and 3.66 mmol/L (reference range 3.90-6.10 mmol/L).Lactate: 4.3, 2.1, 1.3, and 2.6 mmol/L (reference range 0.5-2.2 mmol/L).Triglycerides: 5.22, 1.38, 1.32, and 1.88 mmol/L (reference range 0.56-1.70 mmol/L).Case 1 exhibited poor adherence to uncooked cornstarch therapy during initial treatment, with no significant improvement in biochemical parameters. Follow-up imaging at age 4 revealed hepatic adenoma. Subsequent improvement in therapeutic compliance led to biochemical normalization, reduced hepatic adenoma size, and growth parameters of 113 cm ( P10-25) and 26 kg ( P90-97) at 6 years 2 months. Cases 2-4 demonstrated biochemical improvement with regular uncooked cornstarch therapy and no evidence of hepatic adenoma.Liver histopathology in Cases 1-3 confirmed glycogen accumulation consistent with GSD, without cirrhotic changes. Genetic analysis identified PHKA2 variations in all cases: 2 missense variants, 1 frameshift variant and 1 nonsense variant. The c.2839dup and c.3267G>A variants represent novel pathogenic mutations. Conclusions:GSD Ⅸa in pediatric patients is predominantly characterized by hepatomegaly, hepatic dysfunction, and hypoglycemia. While uncooked cornstarch therapy typically yields favorable prognoses, a subset of patients may develop hepatic adenomas. Notably, children with hepatic adenoma exhibited younger age of onset, significant growth retardation, and more severe metabolic disturbances, suggesting that hepatic adenoma development may be closely linked to the severity of metabolic dysregulation.

Objective:To explore the characteristics of attention bias and the role of embodied emotion prim-ing in college students with different traits of anxiety.Methods:From 2 310 college students,28 from low trait anxi-ety group and 30 from high trait anxiety group were selected based on the scores of the Trait Anxiety Scale.The at-tention bias index,attention orientation index and attention detachment difficulty index were calculated by point de-tection experiment.By asking two groups of subjects to change their body posture to induce embodied emotion,and then responding to the location of the detection point,the effects of embodied emotion priming on the attention bias of college students with different traits of anxiety were investigated.Results:The point detection experiment found that the attention detachment difficulty index of negative emotional faces in the high trait anxiety group was signifi-cantly greater than 0,and the attention orientation index of positive emotional faces in the low trait anxiety group was significantly greater than 0(Ps＜0.05).The attention bias index for positive emotional faces in low trait anxie-ty group was significantly higher than that in high trait anxiety group(P＜0.05).Under embodied negative prim-ing,the attention bias index of negative emotional faces in low trait anxiety group was significantly greater than 0(P＜0.05).The attention orientation indices of negative emotional faces were significantly higher than that of posi-tive emotional faces in both groups(P＜0.05).Conclusion:College students with high trait anxiety have difficulty in escaping attention to negative faces,while those with low trait anxiety have accelerated attention orientation to positive emotional faces.Embodied negative priming may have a greater impact onattention bias of towards negative emotional faces in students with low trait anxiety.

Objective:To explore the characteristics of attention bias and the role of embodied emotion prim-ing in college students with different traits of anxiety.Methods:From 2 310 college students,28 from low trait anxi-ety group and 30 from high trait anxiety group were selected based on the scores of the Trait Anxiety Scale.The at-tention bias index,attention orientation index and attention detachment difficulty index were calculated by point de-tection experiment.By asking two groups of subjects to change their body posture to induce embodied emotion,and then responding to the location of the detection point,the effects of embodied emotion priming on the attention bias of college students with different traits of anxiety were investigated.Results:The point detection experiment found that the attention detachment difficulty index of negative emotional faces in the high trait anxiety group was signifi-cantly greater than 0,and the attention orientation index of positive emotional faces in the low trait anxiety group was significantly greater than 0(Ps＜0.05).The attention bias index for positive emotional faces in low trait anxie-ty group was significantly higher than that in high trait anxiety group(P＜0.05).Under embodied negative prim-ing,the attention bias index of negative emotional faces in low trait anxiety group was significantly greater than 0(P＜0.05).The attention orientation indices of negative emotional faces were significantly higher than that of posi-tive emotional faces in both groups(P＜0.05).Conclusion:College students with high trait anxiety have difficulty in escaping attention to negative faces,while those with low trait anxiety have accelerated attention orientation to positive emotional faces.Embodied negative priming may have a greater impact onattention bias of towards negative emotional faces in students with low trait anxiety.

Objective:To investigate the clinical manifestations, pathological features, and genetic variant characteristics of children with glycogen storage disease type Ⅸa (GSD Ⅸa).Methods:A retrospective case series analysis was conducted to collected and analyzed the medical history, biochemical markers, liver ultrasound results, liver histopathological findings, genotypes, treatment regimens, and follow-up data of 4 pediatric patients diagnosed with GSD IXa in the Department of Infectious Diseases at Xiamen Children′s Hospital from January 2018 to May 2024. All patients were confirmed by genetic testing.Results:All 4 pediatric patients diagnosed with GSD Ⅸa were male. The ages of onset were 8 months, 2 years, 3 years and 3 months, 1 year and 5 months, respectively, with initial presentations including chronic diarrhea (Case 1), incidentally detected transaminase elevation during routine examinations (Cases 2 and 3), and delayed motor development (Case 4). Diagnosis was confirmed at ages 10 months, 3 years, 3 years 4 months and 1 year 6 months, respectively.At diagnosis, anthropometric parameters and biochemical profiles revealed:Height: 68 cm (< P3), 96 cm ( P25-50), 94 cm ( P3-10), and 94 cm ( P3-10).Weight: 7 kg (< P3), 17 kg ( P90-97), 14.4 kg ( P25-50), and 10.5 kg ( P25-50).Alanine aminotransferase: 299, 500, 271, and 313 U/L (reference range 0-40 U/L).Aspartate aminotransferase: 285, 543, 337 and 357 U/L (reference range 0-40 U/L).Fasting glucose: 2.80, 3.67, 2.98, and 3.66 mmol/L (reference range 3.90-6.10 mmol/L).Lactate: 4.3, 2.1, 1.3, and 2.6 mmol/L (reference range 0.5-2.2 mmol/L).Triglycerides: 5.22, 1.38, 1.32, and 1.88 mmol/L (reference range 0.56-1.70 mmol/L).Case 1 exhibited poor adherence to uncooked cornstarch therapy during initial treatment, with no significant improvement in biochemical parameters. Follow-up imaging at age 4 revealed hepatic adenoma. Subsequent improvement in therapeutic compliance led to biochemical normalization, reduced hepatic adenoma size, and growth parameters of 113 cm ( P10-25) and 26 kg ( P90-97) at 6 years 2 months. Cases 2-4 demonstrated biochemical improvement with regular uncooked cornstarch therapy and no evidence of hepatic adenoma.Liver histopathology in Cases 1-3 confirmed glycogen accumulation consistent with GSD, without cirrhotic changes. Genetic analysis identified PHKA2 variations in all cases: 2 missense variants, 1 frameshift variant and 1 nonsense variant. The c.2839dup and c.3267G>A variants represent novel pathogenic mutations. Conclusions:GSD Ⅸa in pediatric patients is predominantly characterized by hepatomegaly, hepatic dysfunction, and hypoglycemia. While uncooked cornstarch therapy typically yields favorable prognoses, a subset of patients may develop hepatic adenomas. Notably, children with hepatic adenoma exhibited younger age of onset, significant growth retardation, and more severe metabolic disturbances, suggesting that hepatic adenoma development may be closely linked to the severity of metabolic dysregulation.

The methodological framework for interventional clinical research of Chinese medicine （CM） under the research mode of syndrome dominating disease provides a set of technical principles and methods to design， evaluate， and implement of this kind. It consists of three main parts including general principles， research points and key design elements， with a total of 25 items. This methodological framework proposes implementing requirements and recommendations in a variety of aspects， including basic norms to be followed in relevant studies， perspectives for selecting research topics， as well as the technological details on study population （P）， intervention （I） and comparison（C）， outcome measurement （O）， time frame （T） of treatment and follow-up， sample orientation （prospective versus retrospective）， study design （S） format and type. To provide practical guidance for future studies， this article clearly explains each items of the methodological framework through some supportive cases.

Objective:To summarize the clinical features and genetic characteristics of Congenital bile acid synthetic disorder type 3 (BASD3) disorder caused by CYP7B1 gene variation.Methods:This was a case series study. Clinical data and genetic results of 2 cases of congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variations in the Department of Infectious Diseases, Children′s Hospital of Fudan University at Xiamen and Department of Pediatrics, Women and Children′s Hospital, School of Medicine, Xiamen University from January 2021 to December 2023 were retrospectively collected and analyzed. Literature up to December 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of " Congenital bile acid synthetic disorder type 3""Oxysterol 7-alpha-hydroxylase""Oxysterol 7α-Hydroxylase Deficiency""BASD3" and "CYP7B1 liver" both in Chinese and English. The main clinical features and genetic characteristics of BASD3 disorder caused by CYP7B1 gene variations were summarized.Results:Two BASD3 patients, 1 male and 1 female, were admitted at the ages of 3 months and 18 days, and 2 months and 7 days, respectively. Both patients presented with neonatal cholestasis and hepatomegaly. Biochemical evidence indicated direct hyper-bilirubinemia with elevated aminotransferase levels, while gamma-glutamyltransferase (GGT) and total bile acid levels were normal or nearly normal. Patient 1 was a compound heterozygotes of the CYP7B1 gene variants c.525-526insCAAGTTGG(p.Asp176GInfs*15) and c.334C>T(p.Arg112Ter). Patient 1 jaundice resolved and liver function tests normalized after oral administration of chenodeoxycholic acid (CDCA). Patient 2 was homozygous for variant c.334C>T(p.Arg112Ter) in CYP7B1 gene. Patient 2 was in liver failure status already and not reactive to oral CDCA administration. Patient 2 received living-related liver transplantation for enhanced abdominal CT revealed a liver tumor likely vascular origin. Literature review revealed no cases of BASD3 reported in Chinese literature, including 2 patients in this study, while 12 patients (9 males and 3 females) were reported in 9 English literatures. All of the 12 manifested jaundice and hepatosplenomegaly in infancy, with cirrhosis, liver failure, kidney enlargement, hypoglycemia, and spontaneous bleeding in some cases, polycystic kidney disease was demonstrated in 5 cases of them. The c.334C>T (p.Arg112Ter) of the CYP7B1 gene was homozygous in 4 cases and compound heterozygous in 2 cases. Among the 12 children, 6 cases received CDCA treatment, while 6 cases not. Four survived with their native liver in the 6 cases who received CDCA therapy, while none in the 6 cases not received CDCA therapy.Conclusions:BASD3 is a rare hereditary cholestatic disorder. Markedly elevated levels of conjugated bilirubin and aminotransferases, with normal or nearly normal GGT and total bile acid levels can serve as diagnostic clue. c.334C>T is the most common pathogenic variant of the CYP7B1 gene. Timely administration of CDCA may save the liver.

Objective To investigate the differences in preoperative obesity-related diseases and body composition between adolescents and adults with obesity undergoing metabolic surgery. Methods A total of 454 patients who underwent metabolic surgery in Nanjing Drum Tower Hospital from July 2016 to July 2022 were recruited and divided into the adolescent group (age ≤19 years,n=61) and the adult group (age>19 years,n=393) according to the age of surgery. Preoperative body composition,obesity-related complications and metabolic indicators were compared between the two groups. Results Compared with adolescent group,age,obesity duration,DBP,WHR,trunk body fat percentage,Android fat/Gynoid fat,FPG,HbA1c,2 hPG,TC,TG,UACR,FOL and VitB12 were increased (P<0.05 or P<0.01),while height,weight,HC,total body fat percentage,thigh body fat percentage,Gynoid body fat percentage,FIns,2 hIns,SUA,AKP,eGFR,ALB,Ca2+were decreased in the adult group(P<0.05 or P<0.01).The incidence of prediabetes,grade 1 hypertension,hyperuricemia and psychological diseases was higher(P<0.05 or P<0.01),while the incidence of T2DM,grade 2 hypertension,grade 3 hypertension,liver fibrosis,carotid plaque and OSAHS was lower in adolescent group than in adult group (P<0.05 or P<0.01). Conclusions The preoperative fat distribution is healthier in adolescent patients with obesity undergoing metabolic surgery than that of adults.Obesity-related metabolic complications have already developed in adolescent patients,but less severe than in adult patients. Psychological health and nutritional supplementation should be emphasized in adolescents after metabolic surgery.

Objective To construct a quality control information system for the entire process of neonatal breastfeeding and evaluate its application effect.Methods Based on the"evidence-based guidelines for breastfeeding of inpatient newborns"and combined with clinical practice,hazard analysis and critical control point methods were applied to construct a quality control information system for the entire breastfeeding process,which includes medical order reminder module,knowledge assessment module,breast milk outside the hospital management module,breast milk inventory reminder module,and adverse feeding record module.The pure breastfeeding rate,qualified rate of breast milk quality,and incidence of adverse events of hospitalized newborns before the application of the system(June and August 2021)and after the application of the system(June and August 2022)were compared.Results After the implementation of the system,the pure breastfeeding rate of hospitalized newboms increased from 15.12％to 28.05％,with a statistically significant difference(x2=4.170,P=0.041).The qualified rate of breast milk quality increased from 68.44％to 96.79％,with a statistically significant difference(x2=531.853,P＜0.001).The incidence of adverse events decreased from 5.81％to 0,with a statistically significant difference(P=0.026).Conclusion The quality control information system for the entire process of breastfeeding accurately identified risks and warning signs against them,standardized the management of breast milk outside the hospital,improved the qualification rate of breast milk quality and pure breastfeeding rate,reduced adverse events of breastfeeding,and ensured the effectiveness and safety of breastfeeding.

Objective To investigate the differences in preoperative obesity-related diseases and body composition between adolescents and adults with obesity undergoing metabolic surgery. Methods A total of 454 patients who underwent metabolic surgery in Nanjing Drum Tower Hospital from July 2016 to July 2022 were recruited and divided into the adolescent group (age ≤19 years,n=61) and the adult group (age>19 years,n=393) according to the age of surgery. Preoperative body composition,obesity-related complications and metabolic indicators were compared between the two groups. Results Compared with adolescent group,age,obesity duration,DBP,WHR,trunk body fat percentage,Android fat/Gynoid fat,FPG,HbA1c,2 hPG,TC,TG,UACR,FOL and VitB12 were increased (P<0.05 or P<0.01),while height,weight,HC,total body fat percentage,thigh body fat percentage,Gynoid body fat percentage,FIns,2 hIns,SUA,AKP,eGFR,ALB,Ca2+were decreased in the adult group(P<0.05 or P<0.01).The incidence of prediabetes,grade 1 hypertension,hyperuricemia and psychological diseases was higher(P<0.05 or P<0.01),while the incidence of T2DM,grade 2 hypertension,grade 3 hypertension,liver fibrosis,carotid plaque and OSAHS was lower in adolescent group than in adult group (P<0.05 or P<0.01). Conclusions The preoperative fat distribution is healthier in adolescent patients with obesity undergoing metabolic surgery than that of adults.Obesity-related metabolic complications have already developed in adolescent patients,but less severe than in adult patients. Psychological health and nutritional supplementation should be emphasized in adolescents after metabolic surgery.