Paramyxoviruses are important respiratory pathogens with substantial clinical relevance in pediatric infectious diseases. During infection, multiple forms of programmed cell death (PCD) may be induced, and this plays pivotal roles in viral replication, dissemination, and host immune responses, thereby profoundly influencing the viral life cycle and disease progression. On one hand, PCD facilitates the clearance of infected cells, restricts viral spread, and activates host immune defenses, thereby enhancing antiviral immunity. On the other hand, excessive or dysregulated cell death may lead to tissue damage and immune imbalance, creating a microenvironment conducive to viral replication and exacerbating disease severity. For instance, apoptosis-mediated by both extrinsic and intrinsic pathways-contributes to infection control but may also be hijacked by viruses to promote dissemination. Pyroptosis, driven by inflammasome activation, triggers lytic cell death and the release of pro-inflammatory cytokines. Necroptosis, mediated by the RIPK1-RIPK3-MLKL signaling axis, and pyroptosis both amplify innate immune responses but may concurrently induce inflammatory dysregulation. Immunogenic cell death (ICD), characterized by the release of damage-associated molecular patterns and neoantigens, activates antigen-specific immune responses and holds therapeutic potential for antiviral and antitumor interventions. Emerging evidence suggests that ferroptosis, through the modulation of iron metabolism and associated transporters, may also participate in viral replication and infected cell clearance. This review comprehensively summarizes the roles of apoptosis, pyroptosis, necroptosis, ICD, and ferroptosis in paramyxovirus infection, aiming to deepen the understanding of paramyxovirus pathogenesis and to provide insights for developing novel antiviral strategies.
Humans ; Paramyxoviridae Infections/pathology* ; Pyroptosis ; Apoptosis ; Virus Replication ; Necroptosis ; Inflammasomes ; Immunity, Innate ; Immunogenic Cell Death ; Paramyxoviridae/physiology* ; Signal Transduction

Objective·To investigate the clinical manifestations and immunophenotypic features of peripheral T-cell lymphoma,not otherwise specified(PTCL-NOS),involving the oral cavity.Methods·The medical histories and pathology records of patients diagnosed with oral PTCL-NOS in the Department of Oral Mucosal Diseases of Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,between August 2020 and August 2024 were retrospectively analyzed.In addition,5 databases,including PubMed,Web of Science,Embase,Scopus,and CNKI,were searched,and relevant cases reported internationally from January 2014 to September 2024 were reviewed.Results·A total of 20 oral PTCL-NOS cases were included,comprising 11 males(55.0%)and 9 females(45.0%).The patients' ages at initial diagnosis ranged from 25 to 77 years,with a mean age of(52.53±12.94)years.The most common sites were the tongue(25.0%),palate(25.0%),and buccal mucosa(20.0%).Nineteen cases(95.0%)had no B symptoms.The cases were positive for CD3(19/19),CD4(11/13),CD8(7/12),CD2(5/6),CD7(5/5),TIA-1(6/7),GB(9/13),perforin(4/6).EBER expression was negative(8/8).The Ki-67 proliferation index was≥60%in 85%of cases.Conclusions·Oral PTCL-NOS is extremely rare and has an aggressive clinical behavior.The oral manifestation presents as deep and large mucosal ulcers with uneven bases,and nodules can be palpable.The pathological features are heterogeneous.Immunophenotype detection is useful for early diagnosis and classification.It is essential for stomatologists to enhance their awareness of this malignancy to avoid delayed diagnosis and treatment.

Objective·To investigate the clinical manifestations and immunophenotypic features of peripheral T-cell lymphoma,not otherwise specified(PTCL-NOS),involving the oral cavity.Methods·The medical histories and pathology records of patients diagnosed with oral PTCL-NOS in the Department of Oral Mucosal Diseases of Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,between August 2020 and August 2024 were retrospectively analyzed.In addition,5 databases,including PubMed,Web of Science,Embase,Scopus,and CNKI,were searched,and relevant cases reported internationally from January 2014 to September 2024 were reviewed.Results·A total of 20 oral PTCL-NOS cases were included,comprising 11 males(55.0%)and 9 females(45.0%).The patients' ages at initial diagnosis ranged from 25 to 77 years,with a mean age of(52.53±12.94)years.The most common sites were the tongue(25.0%),palate(25.0%),and buccal mucosa(20.0%).Nineteen cases(95.0%)had no B symptoms.The cases were positive for CD3(19/19),CD4(11/13),CD8(7/12),CD2(5/6),CD7(5/5),TIA-1(6/7),GB(9/13),perforin(4/6).EBER expression was negative(8/8).The Ki-67 proliferation index was≥60%in 85%of cases.Conclusions·Oral PTCL-NOS is extremely rare and has an aggressive clinical behavior.The oral manifestation presents as deep and large mucosal ulcers with uneven bases,and nodules can be palpable.The pathological features are heterogeneous.Immunophenotype detection is useful for early diagnosis and classification.It is essential for stomatologists to enhance their awareness of this malignancy to avoid delayed diagnosis and treatment.

Objective:To evaluate the long-term outcomes and prognostic factors of locally advanced gastric cancer with serosa-invasion.Methods:This study is a retrospective cohort study. The clinical and pathological data of 495 patients with locally advanced gastric cancer with serosa-invasion who underwent laparoscopic radical gastrectomy in Department of General Surgery, the First Hospital Affiliated to Army Medical University from October 2012 to October 2018 was analyzed retrospectively. There were 356 males and 139 females with an age ( M(IQR)) of 59 (16) years (range: 18 to 75 years). Observation indicators included postoperative results and long-term prognosis. The survival curve was drawn by the Kaplan-Meier method. Univariate and multivariate prognostic analysis was performed using the Cox proportional hazards model. Results:Among the 495 patients, a total of 57 patients (11.5%) were lost to follow-up, with a follow-up time of 89 (40) months (range: 23 to 134 months). The 5-year disease-free survival rate (DFS) and the 5-year overall survival rate (OS) were 56.0% and 58.2%, respectively. The 5-year DFS for patients with stage ⅡB, ⅢA, ⅢB, ⅢC were 71.2%, 60.5%, 51.6%, 33.3%, respectively. The 5-year OS for patients with stage ⅡB, ⅢA, ⅢB, ⅢC were 71.2%, 62.2%, 54.1%, 39.3%, respectively. Multivariate analysis showed that age >65 years (DFS: HR=1.402, 95% CI: 1.022 to 1.922, P=0.036; OS: HR=1.461, 95% CI: 1.057 to 2.019, P=0.022), lymph node dissection number less than 25 (DFS: HR=1.348, 95% CI: 1.019 to 1.779, P=0.036; OS: HR=1.376, 95% CI: 1.035 to 1.825, P=0.028), pathological stage Ⅲ (DFS: HR=2.131, 95% CI: 1.444 to 3.144, P<0.01; OS: HR=2.079, 95% CI: 1.406 to 3.074, P<0.01), and no postoperative chemotherapy (DFS: HR=3.127, 95% CI: 2.377 to 4.113, P<0.01; OS: HR=3.768, 95% CI: 2.828 to 5.020, P<0.01) were independent prognostic factors for the decrease in DFS and OS rates. Conclusions:Laparoscopic radical gastrectomy for locally advanced gastric cancer with serosa-invasion could achieve satisfactory long-term oncological outcomes. More lymph node dissection and standardized postoperative adjuvant chemotherapy are expected to further improve the prognosis of patients with locally advanced gastric cancer with serous invasion after laparoscopic radical surgery.

Objective:To understand the current status of anemia, iron deficiency, and iron-deficiency anemia among preschool children in China.Methods:A cross-sectional study was conducted with a multi-stage stratified sampling method to select 150 streets or townships from 10 Chinese provinces, autonomous regions, or municipalities (East: Jiangsu, Zhejiang, Shandong, and Hainan; Central: Henan; West: Chongqing, Shaanxi, Guizhou, and Xinjiang; Northeast: Liaoning). From May 2022 to April 2023, a total of 21 470 children, including community-based children aged 0.5 to<3.0 years receiving child health care and kindergarten-based children aged 3.0 to<7.0 years, were surveyed. They were divided into 3 age groups: infants (0.5 to<1.0 year), toddlers (1.0 to<3.0 years), and preschoolers (3.0 to<7.0 years). Basic information such as sex and date of birth of the children was collected, and peripheral blood samples were obtained for routine blood tests and serum ferritin measurement. The prevalence rates of anemia, iron deficiency, and iron-deficiency anemia were analyzed, and the prevalence rate differences were compared among different ages, sex, urban and rural areas, and regions using the chi-square test.Results:A total of 21 460 valid responses were collected, including 10 780 boys (50.2%). The number of infants, toddlers, and preschoolers were 2 645 (12.3%), 6 244 (29.1%), and 12 571 (58.6%), respectively. The hemoglobin level was (126.7±14.8) g/L, and the serum ferritin level was 32.3 (18.5, 50.1) μg/L. The overall rates of anemia, iron deficiency, and iron-deficiency anemia were 10.4% (2 230/21 460), 28.3% (6 070/21 460), and 3.9% (845/21 460), respectively. The prevalence rate of anemia was higher for boys than for girls (10.9% (1 173/10 780) vs. 9.9% (1 057/10 680), χ2=5.58, P=0.018), with statistically significant differences in the rates for infants, toddlers and preschoolers (18.0% (475/2 645), 10.6% (662/6 244), and 8.7% (1 093/12 571), respectively, χ2=201.81, P<0.01), and the rate was significantly higher for children in rural than that in urban area (11.8% (1 516/12 883) vs. 8.3% (714/8 577), χ2=65.54, P<0.01), with statistically significant differences in the rates by region ( χ2=126.60, P<0.01), with the highest rate of 15.8% (343/2 173) for children in Central region, and the lowest rate of 5.3% (108/2 053) in Northeastern region. The prevalence rates of iron deficiency were 33.8% (895/2 645), 32.2% (2 011/6 244), and 25.2% (3 164/12 571) in infants, toddlers, and preschoolers, respectively, and 30.0% (3 229/10 780) in boys vs. 26.6% (2 841/10 680) in girls, 21.7% (1 913/8 821), 40.0% (870/2 173), 27.1% (2 283/8 413), 48.9% (1 004/2 053) in Eastern, Central, Western, and Northeastern regions, respectively, and each between-group showed a significant statistical difference ( χ2=147.71, 29.73, 773.02, all P<0.01). The prevalence rate of iron-deficiency anemia showed a significant statistical difference between urban and rural areas, 2.9% (251/8 577) vs. 4.6% (594/12 883) ( χ2=38.62, P<0.01), while the difference in iron deficiency prevalence was not significant ( χ2=0.51, P=0.476). Conclusions:There has been a notable improvement in iron deficiency and iron-deficiency anemia among preschool children in China, but the situation remains concerning. Particular attention should be paid to the prevention and control of iron deficiency and iron-deficiency anemia, especially among infants and children in the Central, Western, and Northeastern regions of China.

Objective:To evaluate the long-term outcomes and prognostic factors of locally advanced gastric cancer with serosa-invasion.Methods:This study is a retrospective cohort study. The clinical and pathological data of 495 patients with locally advanced gastric cancer with serosa-invasion who underwent laparoscopic radical gastrectomy in Department of General Surgery, the First Hospital Affiliated to Army Medical University from October 2012 to October 2018 was analyzed retrospectively. There were 356 males and 139 females with an age ( M(IQR)) of 59 (16) years (range: 18 to 75 years). Observation indicators included postoperative results and long-term prognosis. The survival curve was drawn by the Kaplan-Meier method. Univariate and multivariate prognostic analysis was performed using the Cox proportional hazards model. Results:Among the 495 patients, a total of 57 patients (11.5%) were lost to follow-up, with a follow-up time of 89 (40) months (range: 23 to 134 months). The 5-year disease-free survival rate (DFS) and the 5-year overall survival rate (OS) were 56.0% and 58.2%, respectively. The 5-year DFS for patients with stage ⅡB, ⅢA, ⅢB, ⅢC were 71.2%, 60.5%, 51.6%, 33.3%, respectively. The 5-year OS for patients with stage ⅡB, ⅢA, ⅢB, ⅢC were 71.2%, 62.2%, 54.1%, 39.3%, respectively. Multivariate analysis showed that age >65 years (DFS: HR=1.402, 95% CI: 1.022 to 1.922, P=0.036; OS: HR=1.461, 95% CI: 1.057 to 2.019, P=0.022), lymph node dissection number less than 25 (DFS: HR=1.348, 95% CI: 1.019 to 1.779, P=0.036; OS: HR=1.376, 95% CI: 1.035 to 1.825, P=0.028), pathological stage Ⅲ (DFS: HR=2.131, 95% CI: 1.444 to 3.144, P<0.01; OS: HR=2.079, 95% CI: 1.406 to 3.074, P<0.01), and no postoperative chemotherapy (DFS: HR=3.127, 95% CI: 2.377 to 4.113, P<0.01; OS: HR=3.768, 95% CI: 2.828 to 5.020, P<0.01) were independent prognostic factors for the decrease in DFS and OS rates. Conclusions:Laparoscopic radical gastrectomy for locally advanced gastric cancer with serosa-invasion could achieve satisfactory long-term oncological outcomes. More lymph node dissection and standardized postoperative adjuvant chemotherapy are expected to further improve the prognosis of patients with locally advanced gastric cancer with serous invasion after laparoscopic radical surgery.

Objective:To investigate the influencing factors for gastrointestinal leakage and its occurrence time after minimally invasive radical gastrectomy for gastric cancer.Methods:The retrospective case-control study was conducted. The clinicopathological data of 3 135 patients with gastric cancer who were admitted to The First Affiliated Hospital of Army Medical University from January 2004 to December 2022 were collected. There were 2 174 males and 961 females, aged (57±11)years. Gastrointestinal leakage occurring within 4 days after surgery was defined as early gastrointestinal leakage, and gastrointestinal leakage occuring more than 4 days after surgery was defined as late gastrointestinal leakage. Measurement data with normal distribution were represented as Mean± SD, and t test was used for comparison between groups. Measurement data with skewed distribution were represented as M( Q1, Q3), and Mann-Whitney U test was used for comparison between groups. Count data were represented as absolute numbers, and chi-square test or Fisher exact pro-bability was used for comparison between groups. Comparison of ordinal data was conducted using the nonparameter rank sum test. Logistic regression model was used for univariate analysis, and Logistic forward stepwise regression model was used for multivariate analysis. Results:(1) Clinico-pathological characteristics of patients with and without postoperative gastrointestinal leakage. Of the 3 135 patients, there were 3 056 patients without gastrointestinal leakage and 79 patients with gastrointestinal leakage after operation, and there were significant differences in age, American Society of Anesthesiologists classification, neoadjuvant chemotherapy, surgical resection range, volume of intraoperative blood loss and surgeon′s experience between them ( P<0.05). (2) Postoperative gastro-intestinal leakage and treatment. Of the 79 patients with postoperative gastrointestinal leakage, there were 36 patients with esophagojejunal anastomotic leakage (2 patients combined with jejunal anastomotic leakage), 29 patients with duodenal stump leakage, 11 patients with gastrojejunal anas-tomotic leakage, 2 patients with esophagogastric anastomotic leakage and 1 patient with gastroduo-denal anastomotic leakage. The same patient could be combined with more than one kind of gastro-intestinal leakage. Thirty-four patients were improved after conservative treatment, 31 patients were improved after puncture drainage or endoscopic interventional therapy, and 14 patients were treated with secondary surgery. Among the patients who underwent secondary surgery, 5 patients died during perioperative period. The time to occurrence of postoperative gastrointestinal leakage of 79 patients was 5(4, 8)days, with the earliest occurrence at 1 day after operation, and the latest occurrence at 16 days after operation. (3) Analysis of influencing factors for the occurrence time of postopera-tive gastrointestinal leakage. Results of multivariate analysis showed that neoadjuvant chemotherapy, total gastrectomy and surgeon′s experience ≤50 patients were independent risk factors for early gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer ( odds ratio=4.262, 2.179, 5.015, 95% confidence interval as 1.386-13.110, 1.026-4.627, 2.378-10.537, P<0.05). Age>60 years, total gastrectomy, volume of intraoperative bleeding loss>200 mL were independent risk factors for late gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer ( odds ratio=3.031, 2.804, 2.223, 95% confidence interval as 1.631-5.631, 1.535-5.122, 1.190-4.151, P<0.05). Conclusions:Most patients with gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer can be cured by non-surgical methods. Neoadjuvant chemo-therapy and surgeon′s experience ≤ 50 patients are independent risk factors for early gastrointes-tinal leakage after minimally invasive radical gastrectomy. Age >60 years and volume of intraopera-tive blood loss >200 mL are independent risk factors for late gastrointestinal leakage after minimally invasive radical gastrectomy. Total gastrectomy is an independent risk factor for both early and late gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer.

Objective:To investigate the influencing factors for gastrointestinal leakage and its occurrence time after minimally invasive radical gastrectomy for gastric cancer.Methods:The retrospective case-control study was conducted. The clinicopathological data of 3 135 patients with gastric cancer who were admitted to The First Affiliated Hospital of Army Medical University from January 2004 to December 2022 were collected. There were 2 174 males and 961 females, aged (57±11)years. Gastrointestinal leakage occurring within 4 days after surgery was defined as early gastrointestinal leakage, and gastrointestinal leakage occuring more than 4 days after surgery was defined as late gastrointestinal leakage. Measurement data with normal distribution were represented as Mean± SD, and t test was used for comparison between groups. Measurement data with skewed distribution were represented as M( Q1, Q3), and Mann-Whitney U test was used for comparison between groups. Count data were represented as absolute numbers, and chi-square test or Fisher exact pro-bability was used for comparison between groups. Comparison of ordinal data was conducted using the nonparameter rank sum test. Logistic regression model was used for univariate analysis, and Logistic forward stepwise regression model was used for multivariate analysis. Results:(1) Clinico-pathological characteristics of patients with and without postoperative gastrointestinal leakage. Of the 3 135 patients, there were 3 056 patients without gastrointestinal leakage and 79 patients with gastrointestinal leakage after operation, and there were significant differences in age, American Society of Anesthesiologists classification, neoadjuvant chemotherapy, surgical resection range, volume of intraoperative blood loss and surgeon′s experience between them ( P<0.05). (2) Postoperative gastro-intestinal leakage and treatment. Of the 79 patients with postoperative gastrointestinal leakage, there were 36 patients with esophagojejunal anastomotic leakage (2 patients combined with jejunal anastomotic leakage), 29 patients with duodenal stump leakage, 11 patients with gastrojejunal anas-tomotic leakage, 2 patients with esophagogastric anastomotic leakage and 1 patient with gastroduo-denal anastomotic leakage. The same patient could be combined with more than one kind of gastro-intestinal leakage. Thirty-four patients were improved after conservative treatment, 31 patients were improved after puncture drainage or endoscopic interventional therapy, and 14 patients were treated with secondary surgery. Among the patients who underwent secondary surgery, 5 patients died during perioperative period. The time to occurrence of postoperative gastrointestinal leakage of 79 patients was 5(4, 8)days, with the earliest occurrence at 1 day after operation, and the latest occurrence at 16 days after operation. (3) Analysis of influencing factors for the occurrence time of postopera-tive gastrointestinal leakage. Results of multivariate analysis showed that neoadjuvant chemotherapy, total gastrectomy and surgeon′s experience ≤50 patients were independent risk factors for early gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer ( odds ratio=4.262, 2.179, 5.015, 95% confidence interval as 1.386-13.110, 1.026-4.627, 2.378-10.537, P<0.05). Age>60 years, total gastrectomy, volume of intraoperative bleeding loss>200 mL were independent risk factors for late gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer ( odds ratio=3.031, 2.804, 2.223, 95% confidence interval as 1.631-5.631, 1.535-5.122, 1.190-4.151, P<0.05). Conclusions:Most patients with gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer can be cured by non-surgical methods. Neoadjuvant chemo-therapy and surgeon′s experience ≤ 50 patients are independent risk factors for early gastrointes-tinal leakage after minimally invasive radical gastrectomy. Age >60 years and volume of intraopera-tive blood loss >200 mL are independent risk factors for late gastrointestinal leakage after minimally invasive radical gastrectomy. Total gastrectomy is an independent risk factor for both early and late gastrointestinal leakage after minimally invasive radical gastrectomy for gastric cancer.

OBJECTIVES: To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province. METHODS: The clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn Disease Screening Center from September 2013 to August 2023 were retrospectively analyzed. RESULTS: A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. Ten different variations of CPS1 genewere identified in genetic testing, including 2 known pathogenic variations (c.2359C>T and c.1549+1G>T) and 8 unreported variations (c.3405-1G>T, c.2372C>T, c.1436C>T, c.2228T>C, c.2441G>A, c.3031G>A, c.3075T>C and c.390-403del). All patients had decreased citrulline levels (2.72-6.21 μmol/L), and varying degrees of elevated blood ammonia. The patients received restricted natural protein intake (special formula), arginine and supportive therapy after diagnosis, and were followed-up for a period ranging from 9 months to 10 years. Three patients experienced hyperammonemia, and one patient each had attention deficit hyperactivity disorder, transient facial twitching and increased muscle tone. One patient died, while the other five surviving patients had normal scores of the Ages & Stages Questionnaires (ASQ) and Griffiths Development Scales up to the present time; 4 cases had combined height or weight lag and one case was normal in height and weight. CONCLUSIONS Low citrulline levels and hyperammonemia are common in CPS1 deficiency patients in Zhejiang. Most gene variants identified were specific to individual families, and no hotspot mutations were found. Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patients.
Child ; Humans ; Infant, Newborn ; Carbamoyl-Phosphate Synthase I Deficiency Disease/therapy* ; Neonatal Screening ; Follow-Up Studies ; Hyperammonemia ; Citrulline/genetics* ; Retrospective Studies ; Mutation

OBJECTIVES: To analyze the results of neonatal screening for congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA) in Zhejiang province from 1999 to 2022. METHODS: A total of 11 922 318 newborns were screened from September 1999 and December 2022 in Zhejiang province. The blood thyroid stimulating hormone (TSH) levels were measured by a fluorescence method and blood phenylalanine (Phe) levels were measured by fluorescence method or tandem mass spectrometry. TSH≥9 μIU/mL was considered positive for CH, while Phe>120 μmol/L and/or Phe/Tyr ratio>2.0 were considered positive for HPA. The positive newborns in screening were recalled, and the gene variations were detected by high-throughput sequencing and MassARRAY tests. RESULTS: The overall neonatal screening rate during 1999-2022 was 89.41% (11 922 318/13 333 929) and the screening rate was increased from 6.46% in 1999 to 100.0% in 2022. A total of 8924 cases of CH were diagnosed among screened newborns with an incidence rate of 1/1336. A total of 563 cases of HPA were diagnosed, including 508 cases of classic phenylketonuria (cPKU) and 55 cases of tetrahydrobiopterin deficiency (BH4D), with an incidence rate of 1/21 176. Ninety-seven out of 8924 cases of CH underwent genetic analysis. Gene mutations were detected in 9 CH related genes, the highest frequency mutations were found in DUOX2 gene (69.0%) with c.3329G>A (p.R1110Q) (18.2%) and c.1588A>T (p.K530X) (17.3%) as the hotspot mutations. There were 81 PAH gene variants detected in a total of 250 cases of cPKU, and c728G>A (p.R243Q) (24.4%), c.721C>T (p.R241C) (15.0%) were the hotspot mutations. Meanwhile 7 novel variants in PAH gene were detected: c.107C>A (p.S36*), c.137G>T (p.G46V), c.148A>G(p.K50E), c.285C>T (p.I95I), c.843-10delTTCC, exon4-7del and c.1066-2A>G. There were 12 PTS gene variants detected in 36 cases of BH4D, and c.259C>T (p.P87S) (31.9%) was the hotspot mutation. CONCLUSIONS The incident of CH has increased from 1999 to 2022 in Zhejiang province, and it is higher than that of national and global levels; while the incidence of HPA is similar to the national average. DUOX2 gene variation is the most common in CH patients; c.728G>A (p.R243Q) is the hotspot mutation in cPKU patients, while c.259C>T (p.P87S) is the hotspot mutation in BH4D patients.
Humans ; Infant, Newborn ; Neonatal Screening ; Dual Oxidases ; Congenital Hypothyroidism/genetics* ; Phenylketonurias/genetics* ; Thyrotropin