Objective:To evaluate the efficacy and safety of dupilumab in the treatment of moderate-to-severe atopic dermatitis (AD) in infants aged 6 months to 2 years.Methods:A prospective cohort study was conducted. Children aged 6 months to 2 years with moderate-to-severe AD were enrolled from the Department of Dermatology, Children′s Hospital of Chongqing Medical University between July 2022 and March 2023. Children weighing 5 to < 15 kg received subcutaneous injections of dupilumab at a dose of 200 mg every 4 weeks, while those weighing 15 to < 30 kg received subcutaneous injections of dupilumab at a dose of 300 mg every 4 weeks. Three age-matched healthy children were recruited as controls at the same time. Clinical assessments were performed at weeks 0, 2, 4, 8, 12, and 16 by using the parameters scoring AD (SCORAD), eczema area and severity index (EASI), investigator′s global assessment (IGA), body surface area (BSA) involvement, patient-oriented eczema measure (POEM), pruritus numerical rating scale (NRS), sleep NRS, and infants′ dermatitis quality of life (IDQoL) index. The primary efficacy endpoint was the proportion of patients achieving an IGA score of 0 or 1 (IGA0/1) at week 16, and the key secondary efficacy endpoint was the proportion of patients achieving at least 75% improvement from baseline in EASI (EASI75) at week 16. In addition, serum immunoglobulin (Ig) E, IgG, IgM, and IgA levels and peripheral blood eosinophil counts were measured at weeks 0, 4, and 16. Peripheral blood T helper (Th) cell subsets were analyzed in 10 AD patients and 3 healthy children at baseline by flow cytometry, and 6 AD patients underwent repeat testing at week 16. Adverse reactions were recorded throughout treatment. Changes in clinical scores over time after dupilumab treatment were analyzed using repeated-measures analysis of variance, and changes in serum total IgE levels were analyzed using generalized estimating equations.Results:A total of 12 children with AD were enrolled, including 8 males and 4 females, aged 1.5 ± 0.3 years, and the baseline SCORAD was 64.8 ± 9.9 points. Compared with baseline, SCORAD, EASI, IGA, BSA, POEM, pruritus/sleep NRS, and IDQoL scores were all significantly reduced at week 2 (all P < 0.05), and continued to decrease at weeks 4, 8, 12, and 16. At week 16, the IGA scores decreased from 3.9 ± 0.3 points at baseline to 1.7 ± 0.9 points, with 9 patients achieving IGA0/1; the EASI scores decreased from 28.1 ± 12.4 points at baseline to 4.9 ± 5.4 points, with 9 patients achieving EASI75. Compared with baseline, serum total IgE levels were significantly reduced at weeks 4 and 16 (Wald χ2 = 11.51, P = 0.003). At baseline, the proportion of Th2 cells among total CD3 +CD4 + T cells in patients was significantly higher than that in healthy controls (6.3% ± 1.3% vs. 4.3% ± 0.8%, t = 2.45, P = 0.032) ; at week 16, the proportion of Th2 cells in patients (5.3% ± 2.0%) was significantly lower than that at baseline ( t = 5.56, P = 0.003). The proportion of Th1/17 cells increased from 2.2% ± 1.5% at baseline to 3.9% ± 2.1% at week 16 ( t = 3.51, P = 0.007), whereas the proportions of Th1 and Th17 cell subsets showed no statistical significance compared with baseline (both P > 0.05). One patient experienced an injection-site reaction and another developed fever, but no treatment-related serious adverse reactions were observed. Conclusions:Dupilumab demonstrated favorable efficacy and safety in infants aged 6 months to 2 years with moderate-to-severe AD. In addition, dupilumab could decrease the proportion of Th2 cell subsets and serum levels of total IgE.

Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.

Objective:To evaluate the efficacy and safety of dupilumab in the treatment of moderate-to-severe atopic dermatitis (AD) in infants aged 6 months to 2 years.Methods:A prospective cohort study was conducted. Children aged 6 months to 2 years with moderate-to-severe AD were enrolled from the Department of Dermatology, Children′s Hospital of Chongqing Medical University between July 2022 and March 2023. Children weighing 5 to < 15 kg received subcutaneous injections of dupilumab at a dose of 200 mg every 4 weeks, while those weighing 15 to < 30 kg received subcutaneous injections of dupilumab at a dose of 300 mg every 4 weeks. Three age-matched healthy children were recruited as controls at the same time. Clinical assessments were performed at weeks 0, 2, 4, 8, 12, and 16 by using the parameters scoring AD (SCORAD), eczema area and severity index (EASI), investigator′s global assessment (IGA), body surface area (BSA) involvement, patient-oriented eczema measure (POEM), pruritus numerical rating scale (NRS), sleep NRS, and infants′ dermatitis quality of life (IDQoL) index. The primary efficacy endpoint was the proportion of patients achieving an IGA score of 0 or 1 (IGA0/1) at week 16, and the key secondary efficacy endpoint was the proportion of patients achieving at least 75% improvement from baseline in EASI (EASI75) at week 16. In addition, serum immunoglobulin (Ig) E, IgG, IgM, and IgA levels and peripheral blood eosinophil counts were measured at weeks 0, 4, and 16. Peripheral blood T helper (Th) cell subsets were analyzed in 10 AD patients and 3 healthy children at baseline by flow cytometry, and 6 AD patients underwent repeat testing at week 16. Adverse reactions were recorded throughout treatment. Changes in clinical scores over time after dupilumab treatment were analyzed using repeated-measures analysis of variance, and changes in serum total IgE levels were analyzed using generalized estimating equations.Results:A total of 12 children with AD were enrolled, including 8 males and 4 females, aged 1.5 ± 0.3 years, and the baseline SCORAD was 64.8 ± 9.9 points. Compared with baseline, SCORAD, EASI, IGA, BSA, POEM, pruritus/sleep NRS, and IDQoL scores were all significantly reduced at week 2 (all P < 0.05), and continued to decrease at weeks 4, 8, 12, and 16. At week 16, the IGA scores decreased from 3.9 ± 0.3 points at baseline to 1.7 ± 0.9 points, with 9 patients achieving IGA0/1; the EASI scores decreased from 28.1 ± 12.4 points at baseline to 4.9 ± 5.4 points, with 9 patients achieving EASI75. Compared with baseline, serum total IgE levels were significantly reduced at weeks 4 and 16 (Wald χ2 = 11.51, P = 0.003). At baseline, the proportion of Th2 cells among total CD3 +CD4 + T cells in patients was significantly higher than that in healthy controls (6.3% ± 1.3% vs. 4.3% ± 0.8%, t = 2.45, P = 0.032) ; at week 16, the proportion of Th2 cells in patients (5.3% ± 2.0%) was significantly lower than that at baseline ( t = 5.56, P = 0.003). The proportion of Th1/17 cells increased from 2.2% ± 1.5% at baseline to 3.9% ± 2.1% at week 16 ( t = 3.51, P = 0.007), whereas the proportions of Th1 and Th17 cell subsets showed no statistical significance compared with baseline (both P > 0.05). One patient experienced an injection-site reaction and another developed fever, but no treatment-related serious adverse reactions were observed. Conclusions:Dupilumab demonstrated favorable efficacy and safety in infants aged 6 months to 2 years with moderate-to-severe AD. In addition, dupilumab could decrease the proportion of Th2 cell subsets and serum levels of total IgE.

Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.

Objective:To analyze the etiology of chronic spontaneous urticaria (CSU) in children and associated factors affecting the disease severity.Methods:A single-center cross-sectional study was conducted. Children aged ≤ 17 years with CSU were prospectively enrolled at the Department of Dermatology, Children′s Hospital of Chongqing Medical University from November 2021 to November 2022. Clinical data were collected, serum total IgE and allergen-specific IgE (sIgE) were detected, and basophil activation test (BAT) and autologous serum skin test (ASST) were performed. According to the ASST and BAT results, the children were divided into the chronic autoimmune urticaria (CAU) group (positive for both ASST and BAT), non-CAU group (negative for both ASST and BAT), and partial CAU group (positive for either ASST or BAT). Differences in the etiology and clinical characteristics were analyzed between the CAU group and the non-CAU group. Based on the weekly urticaria activity score (UAS7), the children with CSU were divided into the mild group (UAS7 < 16 points) and moderate to severe group (UAS7 ≥ 16 points). Factors associated with the severity of CSU in children were analyzed using logistic regression. Non-normally distributed quantitative data were expressed as M ( Q1, Q3), and the non-parametric rank sum test (Kruskal-Wallis test) was used to compare quantitative data among multiple groups. Results:This study enrolled a total of 93 children with CSU, including 50 males (53.8%) and 43 females (46.2%), with the age being 5.9 (2.9, 9.2) years, and the disease duration being 4 (2, 8) months; 32 patients (34.4%) were complicated by angioedema, 28 (30.1%) had a family history of chronic urticaria, 49 (52.7%) had a family history of atopic diseases, 14 (15.1%) had a family history of autoimmune diseases, and 26 (28.0%) had at least one atopic comorbidity. Etiologic analysis showed that 32 cases (32/69, 46.4%) were positive for ASST and 28 (28/70, 40.0%) were positive for BAT. Both ASST and BAT were performed in 57 cases, and they were divided into the CAU group (18 cases), non-CAU group (24 cases), and partial CAU group (15 cases) according to the test results. There were no significant differences in the age, disease duration, gender ratio, proportion of patients with atopic comorbidity, or proportion of patients having a family history of atopic diseases among the 3 groups (all P > 0.05), while the proportion of patients with moderate to severe CSU (UAS7 ≥ 16 points) was higher in the CAU group (16/18) than in the non-CAU group (11/24, P < 0.05). Triggering factors were identified in 19 cases (20.4%), including 18 (19.3%) cases of food allergy and 1 case (1.0%) of antibiotic allergy. The serum total IgE level was elevated in 22 cases (22/89, 24.7%), and 40 (40/81, 49.4%) showed elevated levels of at least 1 sIgE. The UAS7 of the children with CSU was 16 (15, 21) points, and there were 31 (33.3%) children with mild CSU and 62 (66.7%) with moderate to severe CSU. Univariate logistic regression analysis showed that BAT positivity was associated with disease severity ( OR = 7.566, 95% CI: 2.238 - 25.572, P < 0.05). After adjustment for age and gender, multivariate logistic regression analysis showed that BAT positivity was associated with moderate to severe CSU ( OR = 6.725, 95% CI: 1.361 - 33.227, P < 0.05) . Conclusions:Autoimmunity may be the main cause of CSU in children, followed by allergic factors. ASST could be used as a primary screening test for the diagnosis of CAU in children, and BAT may help identify CAU and predict disease severity.

Objective:To analyze the relationship between hematological and genotype characteristics of fetuses and patients with hemoglobin (Hb) H disease and their natural disease progression.Methods:From 2010 to 2022, a total of 1 252 blood samples from fetuses and patients with Hb H disease who visited the Guangxi Zhuang Autonomous Regional Maternal and Child Health Hospital were collected (including 174 umbilical cord blood samples, 1 062 peripheral blood samples from patients over 2 years old, and 16 peripheral blood samples from patients with rare cases of genotype Hb H). Additionally, 278 peripheral blood samples were collected from patients aged 0 - 2 years old with Hb H 3.7, Hb H 4.2, Hb H CS, and Hb H WS disease for the study of trends in red blood cell development. Multiple probe hybridization and microarray comparative genomic hybridization technology combined with first-generation Sanger sequencing were used for rare mutation detection.Results:Among the 1 062 Hb H disease patients over 2 years old, 62.34% (662/1 062) had gene deletion (--/-α), of which Hb H 3.7 (-- SEA/-α 3.7) and Hb H 4.2 (-- SEA/-α 4.2) were the most common, accounting for 42.28% (449/1 062) and 19.11% (203/1 062) of the total, respectively. Among the non-deletion genotypes (--/αα T or α Tα/αα T), Hb H CS (-- SEA/α CS), Hb H WS (-- SEA/α WS) and α CSα/α CSα accounted for 16.85% (179/1 062), 16.48% (175/1 062) and 1.98% (21/1 062), respectively. The 81.12% (537/662) of patients with deletional Hb H disease showed mild to moderate anemia, with Hb H detection rates ranging from 75% to 80%. Among non-deletional Hb H disease, Hb H WS disease showed the mild (blood Hb concentration > 95 g/L in 90% of patients) phenotype while Hb H CS and Hb H QS (-- SEA/αα QS) patients had moderate to severe anemia, with Hb H detected in peripheral blood at higher levels than in other types of Hb H disease patients. Except for Hb H CS and Hb H QS, which did not show a significant increase in Hb A2 levels when complicated with β-thalassemia, Hb A2 levels were increased (> 3.5%) in all other types of Hb H disease patients. When Hb H disease was complicated with β-thalassemia, Hb H peaks were not detected in either type of Hb H disease. The results of red blood cell development trend detection showed that erythrocyte counts were elevated in patients with Hb H disease compared to their normal counterparts; whereas, blood Hb, mean erythrocyte volume (MCV) and mean erythrocyte hemoglobin content (MCH) were lower than in their normal counterparts ( P < 0.05) and decreased to the minimum at 6 months to 1 year of age. Patients with Hb H CS disease, as the most severe form of anemia, had the highest MCV values ( P < 0.001). The results of fetal cord blood with Hb H disease showed that α CSα/α CSα caused severe intrauterine anemia, followed by Hb H QS and Hb H CS. The content of Hb Bart's in umbilical cord blood was negatively correlated with the severity of anemia ( rs = - 0.58, P < 0.001). When Hb H disease was complicated with β-thalassemia, there was no significant improvement in fetal anemia, and the Hb Bart's content did not change significantly ( P > 0.05). In addition, Hb H 21.9 (-α 21.9kb/-- SEA) and Hb H 2.4 (-α 2.4/-- SEA) were common in patients with deletion rare Hb H. In patients with non-deletion rare Hb H, αα Amsterdam-A1/-- SEA and αα Hb G-Georgia/-- SEA were both first reported. Conclusions:There is heterogeneity in clinical manifestations of patients with different types of Hb H disease or same type of Hb H disease at different developmental stages. When patients with Hb H are complicated with β-thalassemia, the phenotype of patients with the deletion type is improved, while that of patients with the non-deletion type is not. Compared to normal individuals, patients with Hb H disease have lower blood Hb concentration, MCV and MCH, and more rapid physiological changes in red blood cells.

Objective:To analyze the genetic features of homologous Robertsonian translocation trisomy 21.Methods:This retrospective analysis involved 12 pedigrees in which singleton fetuses were prenatally diagnosed with homologous Robertsonian translocation trisomy 21 [46,XX/XY,+21,der(21;21)(q10;q10)] at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2012 to January 2023. Moreover, karyotype analysis results of the parental peripheral blood were obtained. The prenatal diagnosis results and genetic features in the 12 pedigrees were summarized using descriptive statistical analysis.Results:Among the 12 pedigrees, eight cases were de novo and the other four were maternally inherited. Three mothers in the four inherited cases had homologous Robertsonian translocation trisomy 21 and the other one was a homologous Robertsonian translocation carrier. The karyotypes of the four fathers were all normal. There were three families with multiple children, two of the couples with normal karyotypes had normal children, and the other couple had a child with homologous Robertsonian translocation trisomy 21 that was inherited from the mother with the same type of trisomy 21. Non-invasive prenatal testing was performed in two pedigrees during this pregnancy and the results showed that one case was at low risk and one was at high risk of trisomy 21. Further testing of the placenta after labor induction confirmed the low-risk case with low proportion of mosaic trisomy 21 (the proportion was 21% on the maternal side of the placenta and 9% on the fetal side). Conclusions:Most cases of homologous Robertsonian translocation trisomy 21 are de nove and few are inherited. Parents of probands with homologous Robertsonian translocation trisomy 21 should be routinely advised to undergo peripheral blood chromosome examination to find out whether they are carriers of homologous Robertsonian translocation.

OBJECTIVE: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples. METHODS: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed. RESULTS: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms. CONCLUSION Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis/methods* ; Retrospective Studies ; Sex Chromosome Aberrations

Objective:To explore the characteristics and influencing factors of blood carnitine metabolism in premature infants.Methods:A retrospective analysis of 37 037 neonates with negative results of genetic metabolic disease screening at Guangxi Newborn Disease Screening Center from 2018 to 2021, of which 34 517 normal full-term infants were the control group and 2 520 preterm infants were the research group.According to gestational age, the preterm infants were further divided into three groups: extremely preterm group( n=232), moderately preterm group( n=324)and late preterm group( n=1 964). According to birth weight, they were divided into three groups: very low birth weight group( n=188), low birth weight group( n=1 276)and normal birth weight group( n=1 056). According to blood collection time, they were divided into three groups: 3~7 days group( n=1 990), 8~14 days group( n=342) and 15~28 days group( n=188). Tandem mass spectrometry was used to detect the levels of 31 carnitines in dried blood spots and analyze the differences in the levels of metabolic indicators in each group. Results:Carnitine levels in preterm infants are most affected by gestational age.Adjusting the physiological and pathological conditions of premature infants and other related factors, grouped by gestational age, there were differences in the levels of 31 carnitines among the groups(all P<0.05), the smaller the gestational age, the greater the difference in carnitine levels; grouped by blood collection time, there were statistically significant differences in carnitine levels between preterm infants with different blood collection age groups and full-term 3~7 days groups(all P<0.05), and showing age-related; there are differences among 31 carnitines grouped by body weight(all P<0.05), the smaller the body weight, the greater the difference in carnitine levels.Combined with the analysis of gestational age, birth weight and blood collection date, 17 indicators including C0, C2, C3, C4, C6DC, C10, C10∶1, C12, C12∶1, C14, C14∶1, C14OH, C16, C16∶1, C18, C18∶1 and C18∶1OH are important biomarkers of carnitine metabolism in premature infants. Conclusion:Carnitine in premature newborns has different metabolic differences at different gestational ages, birth weights and blood collection ages, which provides a strong basis for establishing reference standards and interpretation of preterm infants in the laboratory in this region, and provides reasonable and effective early diagnosis and treatment for clinical practice.Meanwhile, it provides an optimized program for timely detection of carnitine deficiency and carnitine supplementation to improve nutrition of premature infants.

OBJECTIVE: To explore the genetic basis of four children with congenital hyperinsulinemia (CHI). METHODS: The four children were subjected to high-throughput whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES analysis has identified 4 variants in the ABCC8 gene and 1 variant in GLUD1, including a ABCC8 c.382G>A variant in case 1, compound heterozygous c.698T>C and c.4213G>A variants of the ABCC8 gene concomitant with a de novo 14.9 Mb microduplication of chromosome 15 in case 2, and ABCC8 c.331G>A variant in case 3, and de novo c.955T>C variant of the GLUD1 gene in case 4. Of these, c.698T>C of the ABCC8 gene and c.955T>C of the GLUD1 gene were unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.382G>A(p.Glu128Lys), c.698T>C(p.Met233Thr) and c.4213G>A(p.Asp1405Asn) variants of ABCC8 gene and c.955T>C(p.Tyr319His) variant of GLUD1 gene were predicted to be likely pathogenic(PM1+PM2+PP3+PP4, PM1+PM2+PM5+PP3+PP4, PM1+PM2+PP3+PP4 and PS1+PM1+PM2+PP3), and the c.331G>A (p.Gly111Arg) variant of ABCC8 gene was predicted to be uncertain significance(PM1+PM2+PP4). CONCLUSION The variants of the ABCC8 and GLUD1 genes probably underlay the pathogenesis of CHI in the four patients. Above results have facilitated clinical diagnosis and genetic counseling for the affected families.
Child ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperinsulinism ; Mutation ; Whole Exome Sequencing