Dilated cardiomyopathy is a heterogeneous myocardial disease, clinically characterized by progressive heart failure, arrhythmia, thromboembolism, and sudden death. Cardiomyopathy is mainly myocardial hypertrophy and myocardial fibrosis. The pathogenesis may be related to immune response, virus infection, and genetic factors. This article reviews the common causes and signaling pathways of dilated cardiomyopathy, providing theoretical basis for the treatment of dilated cardiomyopathy and also provide direction and perspective for the diagnosis and treatment of chronic Keshan disease.

To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

Objective:To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency (CID) and explore prognostic risk factors.Methods:In this retrospective cohort study, clinical characteristics, laboratory tests and prognosis of 73 CID children who underwent allogeneic hematopoietic stem cell transplantation from February 2014 to April 2022 in the Children′s Hospital of Fudan University were analyzed. Based on the subtypes of diseases, all patients were divided into severe combined immunodeficiency disease (SCID) group and other CID group. Based on the types of donors, all patients were divided into matched sibling donor group, matched unrelated donor group, unrelated cord blood group, and haploidentical donor group. Kaplan-Meier method and Log-Rank test were used to analyze the survival data. Cox regression was used to analyze prognostic factors.Results:Among the 73 patients, there were 61 (84%) males and 12 (16%) females. Fifty-five (75%) patients were SCID, and 18 (25%) patients were other CID. Donor source included 2 (3%) matched sibling donors (MSD), 3 (4%) matched unrelated donors (MUD), 64 (88%) unrelated cord blood (UCB), and 4 (5%) haploidentical donors. The age at transplant was 10.7 (5.9, 27.5) months, and the follow-up time was 36.2 (2.5, 62.9) months. The 3-year overall survival rate of 73 patients with CID was (67±6) %. No significant difference was found in the 3-year overall survival rates between patients with SCID (55 cases) and other CID (18 cases) ((64±7) % vs. (78±10) %, χ2=1.31, P=0.252). And no significant difference was found in the 3-year overall survival rates among patients who received MSD or MUD (5 cases), UCB (64 cases), and haploidentical donor (4 cases) transplant (100% vs. (66±6)% vs. (50±25) %, χ2=2.30, P=0.317). Cox regression analysis showed that the medical history of sepsis ( HR=2.55, 95% CI 1.05-6.20, P=0.039) and hypoalbuminemia at transplant ( HR=2.96, 95% CI 1.14-7.68, P=0.026) were independent risk factors for the prognosis of allogeneic hematopoietic stem cell transplantation in pediatric patients with CID. Conclusions:Allogeneic hematopoietic stem cell transplantation is an effective treatment for CID. The medical history of sepsis and hypoalbuminemia at transplant were risk factors for prognosis. Enhancing infection prevention and nutritional intervention before transplant can improve patient prognosis.

Objective To apply cone beam CT measurements(CBCT)to analyze the effect of skeletal Class Ⅲ high angle with devia-tion on upper airway morphology and hyoid position.Methods A total of 120 patients with skeletal Class Ⅲ high angle malocclusion who visited our hospital from September 2019 to December 2022 were selected.CBCT was taken in all subjects.According to the degree of mandibular deviation(MD)of the point under the chin from the median sagittal plane,the 120 patients were divided into three groups:non-migratory,mildly migratory,and severely migratory groups,and the volume of the upper airway as well as the position of the hyoid bone of three groups were measured and analyzed respectively.Results There was no significant difference in the volume and minimum cross-sectional area of the nasopharyngeal segment,palatopharyngeal segment,and minimum cross-sectional area of the laryngopharyngeal segment.No siginificant difference was found between the position of the hyoid bone(HB)on the Y-axis(Y-HB)and the position of the hyoid bone on the Z-axis(Z-HB)among the three groups(P＞0.05).Compared with the other two groups,the vol-ume and total volume of the nasopharyngeal segment,the laryngopharyngeal segment,and minimum cross-sectional area of the laryngo-pharyngeal segment in the group of severe deviation were significantly reduced(P＜0.05)and X-HB was significantly larger(P＜0.05).Conclusion In patients with skeletal ClassⅢhyperkeratosis with severe deviation,the total volume of the glossopharyngeal segment,laryngopharyngeal segment,and upper airway,as well as the minimum cross-sectional area of the glossopharyngeal segment were smal-ler than those of the othertwo groups.In patients with severe deviation,the position of the hyoid bone(HB)in the X-axis(X-HB)was larger than that of the non-migratory group,indicating that migratory jaws mainly affect the morphology of the lingual-pharyngeal seg-ment as well as the laryngopharyngeal segment of the upper airway;the effect of migratory jaws on the hyoid bone is reflected in the X-HB,indicating that migratory jaws can lead to the deviation of the hyoid bone from the median sagittal plane.

Children with certain comorbidities and immunocompromising conditions are highly vulnerable to SARS-CoV-2 infection. Vaccination against SARS-CoV-2 is an important strategy to reduce death， critical illness and overall disease burden. With the evolving and increasing transmission of SARS-CoV-2， universal vaccination is essential to achieve this goal. Children with special medical conditions are considered as the priorities for SARS-CoV-2 vaccination. However， vaccine hesitancy towards the implementation of SARS-CoV-2 vaccination currently remains an urgent challenge. In order to promote the sustainable vaccination for those children in Shanghai as well as China， Shanghai municipal center for disease control and prevention， together with the national children’s medical center， children’s hospital of Fudan university and the expert group on immunization planning of the Shanghai preventive medicine association， organized a consensus expert working group to formulate the evidence-based recommendations and implementation suggestions for children with common chronic diseases， allergy history， diseases involving adverse events related to vaccination， and immunocompromising conditions， based on the published evidence of SARS-CoV-2 vaccination for populations and children with special medical conditions.

H 1-antihistamines are widely used in the treatment of various allergic diseases, but there are still many challenges in the safe and rational use of H 1-antihistamines in pediatrics, and there is a lack of guidance on the prescription review of H 1-antihistamines for children.In this paper, suggestions are put forward from the indications, dosage, route of administration, pathophysiological characteristics of children with individual difference and drug interactions, so as to provide reference for clinicians and pharmacists.

Objective:To evaluate the efficacy and safety of unrelated umbilical cord blood stem cell transplantation (UCBT) with reduced-intensity conditioning regimens in the treatment of hyper-IgM syndrome (HIGM) caused by CD40 ligand gene (CD40LG) mutation.Methods:Clinical features, laboratory data and treatment prognosis of 3 patients with HIGM caused by CD40LG mutation treated with UCBT in Children′s Hospital of Fudan University from May 2018 to August 2019 were analyzed retrospectively. The literature search was conducted with "CD40 ligand deficiency" and "hematopoietic stem cell transplantation" as keywords at China National Knowledge Infrastructure, Wanfang, Weipu and Pubmed databases (up to February 2021) to summarize donor selection, stem cell source, conditioning regimen and prognostic factors of this disease.Results:Three boys with recurrent respiratory tract infection were diagnosed as HIGM with CD40LG mutation. The age of UCBT was 1.0, 1.4 and 0.5 years respectively. Reduced-intensity conditioning regimen including busulifan, fludarabine and cyclophosphamide were used in all patients. Human leucocyte antigen matching of patients and umbilical cord blood was 8/10, 10/10 and 9/10 respectively. All patients achieved complete donor chimerism 14 days after UCBT. All patient suffered grade Ⅰ acute skin graft-versus-host disease without other severe complications. Up to the last follow-up, their disease-free survival time were 33, 18, 18 months after transplantation respectively. No reports were found in Chinese journals, while 24 publications were found in English journals. According to the literature, 258 HIGM patients with CD40LG mutation were treated with hematopoietic stem cell transplantation (HSCT). Matched sibling donors (30.6%(79/258)) and unrelated donors (40.3% (104/258)) were main donor types. Bone marrow (50.8%(131/258)) was the main source of grafts, myeloablative conditioning (66.7% (172/258)) was the main conditioning regimen, and the overall survival rate after transplantation was 70.9% (183/258). Lung injury and liver complications before transplantation were adverse factors affecting prognosis. Among the 14 patients who received UCBT, 2 patients suffered from engraftment failure, 2 patients had mixed chimerism and 3 patients died after transplantation.Conclusions:UCBT is safe and effective in the treatment of HIGM caused by CD40LG mutation. Reduced-intensity conditioning regimen is worthy of further study.

Objective To explore the clinical value of genetic screening for early identification of WAS gene-related disorders in newborns.Methods This was a retrospective study.Neonatal Genome Project from Children's Hospital of Fudan University collected 5 800 high-risk newborns in the neonatal intensive care unit to study the patients' genetic causes using high-throughput sequencing from January 2016 to December 2017.Eleven newborns (all were boys) with pathogenic or likely pathogenic variants in WAS gene were enrolled.Data of clinical characteristics,gene variants and genotype-phenotype correlation were collected and summarized.Results Eleven patients included 5 cases with Wiskott-Aldrich syndrome (WAS) and 6 cases with X-linked thrombocytopenia (XLT).Two patients with WAS developed clinical manifestations in the early neonatal period,and 3 patients in 5-8 weeks after birth.Three neonates with XLT were hospitalized for other diseases in the first place.Their platelet count was found to be reduced after admission to hospital,and diagnosis was made after genetic testing.Eleven pathogenic or likely pathogenic variants in WAS gene were identified.Among them,7 were first reported in this study,including 2 frame shift variants c.138delG and c.388_390del,4 splicing variants c.1453+ 1G＞A,c.734+ 1G＞C,c.135G＞A and c.1453+3G＞C,and 1 missense variant c.1118C＞T.The other 4 reported variants were c.777+ 1G＞A,c.107_ 108delTT,c.436delC and c.1509_*3delAGTG.Conclusions The clinical features of WAS gene-related disorders in neonatal period lack specificity.Genetic screening in newborns plays an important role in the early diagnosis of diseases and provides providing evidence for the early intervention.

Objective To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations,and to explore the relationship among genotypes,clinical manifestations and immunophenotypes.Methods Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology,Children's Hospital of Fudan University between October 2013 and June 2017.The data included clinical manifestations,immunophenotypes and genotypes.Results A total of 8 patients were diagnosed with RAG1 deficiency (6 boys and 2 girls).The minimum age of onset was 2 months,and the maximum age was 4 months.The minimum age of diagnosis was 2 months,and the maximum age was 13 years.Four patients had a family history of infant death due to severe infections.Two cases were born to the same consanguineous parents.All cases had recurrent infections,including involvement of respiratory tract (8 cases),digestive tract (6 cases),urinary tract (1 case),and central nervous system (1 case).The pathogens of infection included bacteria,viruses and fungi.Rotavirus was found in 3 cases,cytomegalovirus (CMV) in 5 cases,bacillus Calmette-Guérin adverse reaction in 2 cases (1 of whom had a positive acid-fast smear from lymph node puncture fluid),fungal infection in 3 cases.One case had multiple nodular space-occupying lesions in lungs and abdominal cavity complicated with multiple bone destruction.The peripheral blood lymphocyte counts of all patients ranged between 0.1 × 109/L and 3.3 × 109/L (median,0.65 × 109/L).Eosinophilia was found in 3 cases (range,(0.48-1.69) x 109/L).The patients were classified according to immunophenotype as severe combined immunodeficiency phenotype (4 cases),leaky severe combined immunodeficiency (2 cases),Omenn syndrome (1 case) and combined immunodeficiency(1 case).Decreased serum IgG levels were found in 3 cases,increased serum IgM levels in 3 cases,increased serum IgE levels in 5 cases.RAG1 homozygous mutations were detected in 5 cases and RAG1 compound heterozygous mutations in 3 cases.Two novel mutations and six previously reported mutations were identified.Three cases were successfully treated with hematopoietic stem cell transplantation.Four cases died due to infections,and the 13 year-old patient was still under follow-up in the outpatient clinic.Conclusions Different RAG1 gene mutations can lead to diverse clinical presentations and immune phenotypes.Clinicians should pay attention to the family history of infant death with severe infection.In that situation,immunological evaluation and gene detection should be performed as early as possible.