Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection which affects children's health. The intestinal flora play an important regulatory role in host metabolism and immunity and are associated with a variety of diseases. Studies have shown that sepsis and clinical treatments can lead to intestinal flora imbalance in children, which further affects the prognosis of the disease; while healthy intestinal flora can reduce the susceptibility of children to sepsis and improve the survival of sepsis, and ameliorate the damage to the function of organs. This article reviews the related research on intestinal flora and sepsis, in order to contribute to the prevention and treatment of sepsis in children.

Acute myeloid leukemia accounts for about 15%-20% of childhood leukemia, and nearly 40% of pediatric patients still relapse after standard chemotherapy. Allogeneic hematopoietic stem cell transplantation is a powerful means to prevent its recurrence. However, some patients still relapse, and the 2-year survival rate of these patients is less than 20%. Some patients with relapse cannot tolerate or are insensitive to conventional chemotherapy. Recurrence is the main cause of death after transplantation. The prevention of relapse after transplantation ought to start before transplantation, optimize each part of the transplantation chain, and strictly follow the follow-up monitoring. In recent years, new molecular targeted drugs, new immunotherapy and CRISPR genome-edited hematopoietic stem cell therapy have also provided more treatment strategies for pediatric patients with AML relapse after transplantation. According to the procedure of transplantation chain, this paper summarized the preventive measures of each link and the treatment options of post-transplantation recurrence, in order to provide the direction and strategy for the clinic.

Objective To dynamically monitor and analyze infants with cow’s milk protein allergy (CMPA), milk protein tolerance and changes in gut microbiome during clinical treatment. Methods Fifty infants with CMPA attended the pediatric outpatient clinic were selected as the CMPA group, and 20 infants underwent health checkups were selected as the healthy control groupat the Child Health Development Center of Peking University Third Hospital from September 2020 to March 2021. The differences in gut microbiome between the two groups were compared. Results There were 50 patients in the CMPA group, including 21 males and 29 females, with a median age of 4 months. The control group consisted of 20 cases, of 12 males and 8 females, with a median age of 4 months. There were no statistically significant differences between the CMPA group and the control group in terms of age inmonths, sex, birth mass, mode of delivery, and feeding mode (all P>0.05). The baseline data of the children in the two groups were comparable. Follow-up of treatment and regression of children in the CMPA group at months 1, 3, and 6 revealed that a total of 38 children had established immune tolerance by 6 months, and 12 others still had CMPA. The Shannon index and Shannoneven index were statistically higher in the CMPA group compared with the control group (P<0.05), and the Anosim test showed statistically significant differences in community composition between the two sample groups (R=0.26, P=0.001). The relative abundance of Actinobacteria was significantly lower in the CMPA group. The relative abundance of Firmicutes was higher in the tolerant group than in the allergic group after six months of follow-up. During the treatment of CMPA-tolerant infants, species with progressively higher abundance were observed for Bifidobacterium (P<0.01), Blautia (P<0.01), Ruminococcus (P<0.01) and Faecalibacterium (P<0.01). Except for Bifidobacterium, all other species were known as butyrate producers. Conclusion The gut microbiome of children with CMPA differs from that of healthy children. The relative abundance of Bifidobacterium and butyrate-producers microbiome in the intestine of children with CMPA was increased during the establishment of immune tolerance.

Developmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by early-onset epilepsy, abnormal electroencephalography and developmental retardation or regression. The etiology of DEE is complex, with high disability rate and fatality rate. With the development of next-generation sequencing technology, more and more genetic causes related to DEE have been discovered, which also deepens the acknowledgement on the pathogenesis of DEE. These researches provide a basis for exploring different treatment methods, especially gene therapy. It is expected that gene therapy will be carried out in the future to improve the prognosis of DEE.

Objective To explore the efficacy and safety of lactase additive in improving lactose intolerance in premature infants. Methods Preterm infants with lactose intolerance admitted to Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai First Maternal and Infant Health Hospital, Children's Hospital Affiliated to Zhejiang University School of Medicine and Children's Hospital Affiliated to Soochow University from January 2018 to December 2019, who met the inclusion criteria were included in the study. They were divided into lactase treatment group and control group randomly, with 80 cases in each group. For the patients in the lactase treatment group, 4 drops (180 mg) of lactase were added to each feeding of breast milk or formula milk for premature infants, and Bifidobacterium triple viable powder was orally administered and abdominal massage was used as adjuvant therapy. For patients in the control group, 4 drops (180 mg) of placebo were added to each feeding, and the same probiotics and abdominal massage as the treatment group were given, After 1 and 2 weeks treatment, symptoms of lactose intolerance, weight, fecal pH, fecal reducing sugar and other indicators were compared between the two groups. Results seventy-eight patients in the lactase treatment group and 77 patients in the control group, respectively, completed the whole study. After the first week intervention, the positive rate of reducing sugar in the lactase treatment group was lower than that in the control group (P<0.05). At the end of the second week treatment, the proportion of abdominal distension in the lactase treatment group were lower than those in the control group (P<0.05), and the positive rate of reducing sugar was lower than that in the control group (P<0.05). The increase of feeding amount was also higher than that of the control group (P<0.05). During the course of the study, no adverse reactions to lactase additives or probiotics were found in both groups. Conclusions Lactase supplementation can effectively and safely improve the clinical symptoms caused by lactose intolerance in premature infants.

Objective To investigate the clinical significance of perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) in children with systemic lupus erythematosus. Methods The clinical data of SLE children treated from January 2016 to July 2021 were retrospectively analyzed. The autoantibody related indexes, immune function, renal function and renal pathology of pANCA positive and negative children were analyzed. Results A total of 191 SLE children (160 girls and 31 boys) were enrolled, and the average age was (12.0±3.5) years. There were 81 children in pANCA positive group, among whom 26 were formaldehyde-resistant pANCA positive and 55 were formaldehyde-sensitive pANCA positive. Anti-myeloperoxidase (MPO) antibody was positive in 29 children, accounting for 35.8% of pANCA positive children. Compared with pANCA negative group, children in pANCA positive group had higher ESR, lower Hb, and higher positive rates of antinuclear antibody, anti-double-stranded DNA (dsDNA) antibody, anti-Sjögren's-syndrome-related antigen A (SSA) autoantibody, anticentromere protein B (CENP-B) antibody, anti-histone antibody, anti-ribosome ribonucleoprotein (rRNP) antibody, anti-nucleosome antibody and anti-Ro-52 antibody. The differences were statistically significant (P<0.05). Compared with pANCA negative group, pANCA positive group had lower levels of complement C3 and C4, higher levels of urinary creatinine (UCr), urinary immunoglobulin G/UCr, α1-microglobulin/UCr, β1-microglobulin/UCr and urinary microalbumin/UCr, and higher proportion of urinary occult blood and urinary protein, and the differences were statistically significant (P<0.05). A total of 112 children with SLE underwent renal biopsy. Compared with the pANCA negative group, the proportion of mesangial hyperplasia and the deposition proportion of IgG, IgM, IgA, C1q and C3 in glomerular mesangium and capillary loop was higher in the pANCA positive group, and the differences were statistically significant (P<0.05). Conclusions In children with SLE, pANCA positive children are more likely to have renal injury and more severe symptoms.

Mechanical ventilation is the main treatment for acute respiratory distress syndrome (ARDS). Proper spontaneous breathing during mechanical ventilation can promote lung recruitment, improve ventilation/perfusion ratio and oxygenation, reduce diaphragm atrophy and improve organ perfusion. However, strong spontaneous breathing may lead to high transpulmonary pressure and increased pulmonary perfusion, thus aggravating lung injury. To establish a better lung protective ventilation strategy in clinical practice, emphasis should be devoted to the regulation of spontaneous breathing and the suitable mechanical ventilation system should be selected. This article reviews the role of regulating spontaneous breathing in the treatment of mechanical ventilation in ARDS patients.

Noninvasive high-frequency oscillatory ventilation(NHFOV) is based on the application of a continuous flow, generating a constant distending positive pressure with superimposed oscillations, delivered all over the spontaneous breathing cycle. NHFOV matches together the advantages of high-frequency ventilation (no need for synchronisation, high efficacy in removing CO₂) and nasal continuous positive airway pressure (NCPAP, non-invasive interface, increase in functional residual capacity allowing oxygenation to improve). As it represents another “brick in the wall” of the non-invasive respiratory support, it has been increasing applied in neonatal intensive care unit (NICU). At present, there is no consensus guidelines on the application of NHFOV, the application of NHFOV is largely based on the local practices and comfort. This article summarizes the physiology of NHFOV, indications, ventilator device, interfaces, parameter settings, and clinical evidence based on a PubMed literature search.

Human milk oligosaccharides (HMOs) are unique and abundant complex carbohydrates in breast milk. As the third most abundant component in breast milk, they have gradually received attention from scholars both domestically and internationally. With the rapid development of analytical techniques and multiomics, the research field of HMOs has made great progress and made great breakthroughs in the past few years. However, we are still in the initial stage of revealing the role and mechanisms of HMOs. However, the conclusions are mainly from foreign clinical studies, and need to be further verified by high-quality randomized clinical trials. In addition, we need to consider its effectiveness in different diseases, environment, and populations. Here, we summarize the roles of HMOs in regulating gut microbiome development, intestinal health, immune system development, and brain development in infants. Additionally, we explore the potential future applications of HMOs in infants in China.

Invasive fungal disease (IFD) is one of the most common types of infection in the treatment of hematologic malignancies and has a significant impact on the prognosis of pediatric patients with hematologic malignancies. In recent years, with the development of pathogen molecular detection techniques and the application of new antifungal drugs, the prognosis of IFD in pediatric patients with hematologic malignancies has been greatly improved. However, challenges such as diagnostic difficulties, complex disease conditions, and the selection of treatment drugs still exist. This article summarizes the current research progress and the latest diagnostic and therapeutic guidelines to elucidate the risk factors, clinical features, treatment strategies, and prognosis of IFD in pediatric patients with hematologic malignancies, aiming to better assist pediatricians in understanding the prevention, management, and treatment of IFD in pediatric patients with hematologic malignancies.

Bifidobacterium longum is a commensal microbiota beneficial to the intestine, which is closely related to gut health during infancy. This paper reviews the physiological characteristics and the biological characteristics of genomics, metabolomics and proteomics, the prebiotic function in treating or alleviating gastrointestinal diseases in infants, and the research progress and application development prospect at home and abroad of Bifidobacterium longum. This review also analyzes the efficacy and possible mechanism of different strains of Bifidobacterium longum in the treatment of infantile functional constipation, irritable bowel syndrome and inflammatory bowel disease in order to provide scientific basis for the application of Bifidobacterium longum in clinical treatment or alleviation of gastrointestinal diseases in infants, and provide ideas for the development of Bifidobacterium longum functional strains and their in-depth research on promoting intestinal health.

Objective To explore the application value of pediatric critical illness score (PCIS), pediatric risk of mortality (PRISM) Ⅲ score, pediatric sequential organ failure assessment (pSOFA) score, radiographic assessment of lung edema (RALE) score and acute lung injury score (LIS) in the prognosis evaluation of pediatric acute respiratory distress syndrome (pARDS). Methods The clinical data of children diagnosed with ARDS admitted to the pediatric intensive care unit (PICU) from January 2015 to December 2021 were retrospectively analyzed. Results A total of 80 ARDS children with sepsis and multiple organ dysfunction were enrolled, including 45 boys and 35 girls, and the median age was 12.5 (4.0-36.3) months. There were 50 patients in the survival group and 30 patients in the death group (16 died during hospitalization and 14 died after abandonment). Compared with the survival group, the death group had higher oxygenation index (OI), higher pSOFA and PRISM Ⅲ scores at transferring to PICU and diagnosing ARDS, higher RALE and LIS scores at diagnosing ARDS, and higher proportion of vasoactive substances application and blood transfusion. Furthermore, compared with the survival group, the death group had shorter total hospital stay, PICU stay and mechanical ventilation time, and lower proportion of intrapulmonary factors, PO₂/FiO₂ and PCIS scores. The differences were statistically significant (P<0.05). Compared with the group without underlying diseases, the scores of pSOFA, PRISM Ⅲ, RALE, and LIS were higher and the scores of PCIS were lower at the diagnosis of ARDS in the group with underlying diseases, the differences were statistically significant (P<0.05). The AUCs of PCIS, pSOFA, PRISM Ⅲ, RALE, and LIS at the diagnosis of ARDS in predicting the death of ARDS children were 0.73, 0.89, 0.83, 0.80 and 0.82, respectively. Hosmer-Lemeshow goodness of fit test showed that PCIS had the best fitting effect between predicted mortality and actual mortality (χ²=4.16, P=0.656). Conclusions PCIS, pSOFA, PRISM Ⅲ, RALE and LIS scores all have good predictive ability for the prognosis of children with ARDS, and pSOFA score had the highest predictive value. PCIS had the best fitting effect between predicted mortality and actual mortality.

Very early onset inflammatory bowel disease (VEO-IBD) refers to those patients who have developed disease before the age of 6, and their incidence and prevalence have increased rapidly in recent years. With the development of gene sequencing technologies and platforms, the pathogenesis of VEO-IBD has been found to be related to the monogenic variations involved in multiple pathways of immunity. Whether the monogenic variation is the main cause of VEO-IBD is still controversial, but identifying the specific variant type can guide specific treatment to some extent. This paper introduces the possible mechanisms of gene variation and environmental exposure in the pathogenesis of VEO-IBD, focusing on four aspects of monogenic variation associated with VEO-IBD, in order to provide directions for early diagnosis and precise treatment.

Objective Patent ductus arteriosus (PDA) is a common complication in premature infants. When it progresses to PDA with significant hemodynamics (hsPDA), it can seriously affect neonatal outcomes. Recent studies have found that some perinatal factors, platelet-related parameters, brain natriuretic peptide and ultrasound indicators can predict the occurrence of hsPDA and form an artificial intelligence prediction model. However, some predictors are still controversial, and further research is needed to build a sensitive, accurate and easy-to-use prediction model for targeted treatment of high-risk children to improve the prognosis of premature babies.

Fanconi anemia is a rare monogenic disease with the hallmark of bone marrow failure. Although allogeneic hematopoietic stem cell transplantation constitutes the preferred therapy for bone marrow failure in Fanconi anemia patients, the increased incidence and mortality of transplant-related complications have seriously affected their quality of life. As medical science advances in recent 30 years, gene therapy may emerge as an innovative low-toxicity therapeutic option for this life-threatening disorder. In this paper, attention is focused on the advances in gene therapy for Fanconi anemia in children.

After forty-three years of development, China’s newborn screening program has achieved remarkable success. Professor Chen Ruiguan, not only a pioneer in the field of newborn screening in China but also the founder of this discipline. This article comprehensively reviews the development of newborn screening in China, including the expansion of screened diseases and technological innovations, the promulgation of relevant national policies, the significant achievements of newborn screening, and its impact on families and society. It also looks ahead to future directions, commemorating Professor Chen’s outstanding contributions.

Expiratory nitric oxide detection is a non-invasive method to assess the state of eosinophilic airway inflammation and can predict the responsiveness of respiratory allergic diseases to corticosteroid treatment. It is mainly used for the diagnosis, differential diagnosis, treatment, and predicting prognosis and management of respiratory allergic diseases.

The imbalance of microecological stability hinders the development and maturity of immune function in children, which affects immunity and closely related to the occurrence, development and outcome of a variety of digestive diseases. Probiotics can play an important role in the treatment of infantile diarrhea, inflammatory bowel disease, necrotizing enterocolitis, functional abdominal pain by regulating the balance of intestinal flora, improving immunity, reducing inflammatory damage and reducing the absorption of harmful substances. This article intends to explore the efficacy and safety of probiotics in children's digestive system diseases through the latest literature research, so as to provide reference for the selection of beneficial strains fordifferent diseases.

Aplastic anemia (AA) is a bone marrow hematopoietic failure disorder that is characterized by low bone marrow hematopoiesis, complete blood cytopenia and anemia/hemorrhage/infection syndrome. Allogeneic hematopoietic stem cell transplantation is currently an important method in the treatment of severe AA. The occurrence and management of transplant-related complications remain a great clinical challenge, and their prevention and treatment can directly affect the outcome of transplantation, long-term survival and quality of life of the children. In this paper, we review the diagnosis, prevention and treatment of common transplant complications during HSCT in children with AA, with the aim of improving the success rate and survival rate of these transplanted children.

Vascular smooth muscle cells (VSMCs) are predominant constituents of the vessel walls and contribute to maintaining vascular function of the blood vessels. VSMC phenotypic switching from a quiescent contractile phenotype to a proliferative and migratory phenotype induced by several pathological stimulations, which is involved in the pathogenesis of a serious cardiovascular disease (CVDs). In recent years, cardiovascular health in children has become an increasingly prominent problem, posing a heavy burdens on economic development. In this review, we summarized the research on VSMCs phenotypic switching in pediatric CVDs such as Kawasaki disease, aneurysm, primary hypertension, pulmonary hypertension, coarctation of the aorta, and Takayasu arteritis, which is aim to provide potential targets for the prevention and treatment of CVDs in children.

Respiratory syncytial virus (RSV) infection is a global health issue that poses a serious threat to the health of children under the age of 5. This article closely follows the “Chinese expert consensus on the clinical diagnosis and treatment of respiratory syncytial virus infection in children (2023 edition)”, and makes an in-depth interpretation of key issues such as the window period for RSV pathogenic diagnosis, late-onset severe disease of RSV, and supportive treatment of RSV.

Objective To explore the prevalence of neonatal urea circulation disorder (UCD) by genetic screening and achieve the early identification and intervention of neonatal hyperammonemia (NHA) caused by UCD in Guangdong province. Methods The gene screening data of 38159 neonates from multiple centers in Guangdong region from 2019 to 2022 were collected, and the gene positive rate of UCD neonates was calculated. Meanwhile, the clinical intervention and efficacy of 9 children with UCD related NHA were further analyzed. Results The gene positive rate of UCD in newborns in Guangdong was 0.472%, and citrin deficiency was the commonest (0.314%). All three cases of citrin deficiency had homozygous variation of c.852_855delTATG in SLC25A13 gene. Due to the different diagnosis time and clinical intervention period, the prognosis of children is also different. Six children with UCD related NHA had early onset and advanced progression. After active early symptomatic treatment, two patients with citrullinemia typeⅠimproved, four patients died and one was lost to follow-up. Conclusions The etiology of NHA is complex and diverse, and UCD is the commonest. Its clinical manifestations lack specificity, and it is easy to be missed and misdiagnosed. Early blood and urine metabolism screening combined with UCD-related gene screening can achieve early identification, diagnosis and treatment of UCD-related NHA, and can guide genetic counseling and prenatal diagnosis of another pregnancy.

Objective To investigate the clinical characteristics and genetic variants of children with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Methods A retrospective analysis was performed on the clinical manifestations, laboratory examinations, and genetic testing of 5 NEDSDV children diagnosed in the rehabilitation department of Nanjing Children's Hospital from 2014 to 2020, and the clinical manifestations and genetic characteristics of the patients were summarized together with literature review. Results All the five patients showed features of global developmental delay, microcephaly and spastic diplegia. Among them, patients 1, 2, 3, and 5 all had strabismus, and patient 5 had severe congenital retinal exudative abnormalities. Genetic testing identified de novo heterozygous mutations of CTNNB1 gene in all of the five patients, and all of them were truncated mutations (including nonsense and frameshift mutations), of which c.478_479insTAAATGA, c.1973dupT and c.625G>T were newly discovered mutations. Compared with 39 cases of genetically diagnosed patients reported abroad from 2001 to 2020 (including 5 adult cases), all but one child in this study had a slightly thinner corpus callosum, the other four cases showed no significant brain imaging abnormalities, and retinopathy was relatively rare. Conclusions Global developmental delay accompanied by microcephaly and spastic diplegia can be an indication for the suspected diagnosis of NEDSDV, while ocular lesions and brain imaging abnormalities are not necessary phenotypes for clinical diagnosis, and confirmation of diagnosis depends on genetic testing. The identification of three novel variants of CTNNB1 expands the pathogenic variants spectrum of NEDSDV.

The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple systems, primarily manifesting as retinal lesions, polydactylism (or hyperdactylism), obesity, intellectual diminution, sexual duct development deficiency, and renal abnormalities. To date, 26 disease-causing genes have been identified, all of which are localised to the primary cilia, with the BBS1, BBS2 and BBS10 genes being the most common genetic causes. There is no curative therapy for this disease, and symptomatic supportive treatment is the main focus. This paper reviews the disease from the perspectives of clinical characteristics, diagnostic criteria, causative genes, the current situation of BBS patients in China, and treatment, with a view to providing reference for the clinical diagnosis and treatment of this disease.

Bronchiolitis obliterans syndrome (BOS) is one of the rare and fatal non-infectious pulmonary complications after allogeneic haematopoietic stem cell transplantation (HSCT) in children. Mutiple risk factors such as primary graft dysfunction, graft-versus-host disease (GVHD), lymphocytic bronchiolitis, gastro-oesophageal reflux, and air pollution, particularly in children, have been reported to be the most common contributions to the bronchiolitis obliterans syndromepost-HSCT. An early diagnosis and treatment of BOS following HSCT is challenging due to the lack of obvious early symptoms, high risk of open lung biopsy, irreversible pathophysiological changes, and the failure of steroid treatment in some children. In this review, we summarize research advances in the epidemiology, pathogenesis, diagnosis, and treatment of this lethal noninfectious pulmonary complication, and provide suggestions for further improvement of diagnostic and therapeutic norms applicable to post-HSCT BOS in children.

In recent years, allergic diseases continue to pose a major threat and challenge to the health of a wide range of children, thereby calling for urgent intervention to prevent the progression of the disease. The human gut microbiota is established by the age of 3 years. The imbalance in the gut microbiota occurs due to factors, such as cesarean delivery and antibiotic use before the age of 3 years, is strongly associated with a higher risk of future onset of allergic diseases. Recent advancements in next-generation sequencing methods have revealed the presence of dysbiosis in patients with allergic diseases, which increases attention on the relationship between dysbiosis and the development of allergic diseases. A large number of researchers have conducted in-depth research on the correlation between gut microbiota and allergic diseases, and the research results have revealed that the imbalance of gut microbiota is associated with the high risk of children developing allergic diseases in the future, and the changes in gut microbiota may be used as therapeutic targets for allergic diseases. Therefore, the purpose of this paper is mainly to review the latest research progress of gut microbiota in children with allergic diseases, and try to further promote the treatment and prevention of clinical diseases by comparing the gut microbiota of children with allergic diseases and normal children.

Objective To analyze prenatal diagnosis, genetic counseling and follow-up of five fetuses with isodicentric Y chromosomes and to provide reference for the clinical treatment. Methods From January 2018 to August 2022, 7 347 pregnant women with prenatal diagnostic indications were selected, and fetal amniotic fluid was detected by conventional G-banding karyotype and chromosomal microarray analysis (CMA) simultaneously, and then verified by fluorescence in situ hybridization (FISH). Subsequently, parental karyotypes were analyzed. After genetic counseling, pregnant outcomes were followed up. Results Five fetuses with de novo idic(Y) were detected and all of these Y chromosomes had the same breakpoint in Yq11.2. Among them, four fetuses (cases 2~5) presented with a mosaic 45, X karyotype except the fetus of case 1. Prenatal ultrasonography indicated that all five fetuses were male and no obvious structural abnormalities were found in the other four fetuses except for case 1 with possible bilateral clubfeet. After personalized genetic counseling combined with the ultrasonography results, cases 1~2 chose to continue the pregnancy while cases 3~5 terminated the pregnancy. The child of case 1 was followed up to four years old. The surgical effect of strephenopodia was good, and the mild developmental retardation was improved after rehabilitation training. The child of case 2 was followed up to 2 years old, and no abnormal phenotype was found yet. Case 3 had been pregnant again and had given birth to a healthy baby girl while cases 4 and 5 were still in preparation for pregnancy. Conclusions The combined application of cellular and molecular genetic techniques is helpful for the prenatal diagnosis of the fetuses with idic(Y). Reasonable genetic counseling and long-term follow-up can provide an important reference for subsequent clinical diagnosis and treatment.

B cell aplasia (BCA) is a common adverse side effect in pediatric patients with B-acute lymphoblastic leukemia (B-ALL) following CD19-chimeric antigen receptor T-cell (CD19 CAR-T) therapy. The duration of BCA has an impact on the immune status and prognosis of patients. A thorough understanding of BCA helps physicians choose treatment plans in a scientific, normative, and reasonable manner, reducing the risk of infection in pediatric leukemia patients after CAR-T treatment and improving their prognosis and quality of life.

Over the past 15 years, the development of antibody detection technology led to the increased awareness of autoimmune encephalitis. However, the innovation has also brought about a certain proportion of misdiagnosis, and some patients have been treated improperly as a result. The main reasons for misdiagnosis include lax implementation of diagnostic criteria, incorrect interpretation of antibody test results, and insufficient differential diagnosis. Compared with adults, the symptoms of children with autoimmune encephalitis are more difficult to identify, and there are antibody spectrum and characteristics that are different from those of adults. The differential diagnosis of the disease involves a wider range, and its diagnosis and treatment face greater challenges. This article will summarize the diagnosis and treatment process of autoimmune encephalitis in children based on the current situation in China. The related pitfalls of diagnosis and treatment are interpreted and analyzed in order to help pediatricians improve accurate diagnosis and treatment of autoimmune encephalitis.

Nutrition screening, nutrition assessment and nutrition intervention are the key steps of nutrition diagnosis and treatment. Nutritional risk screening is the basis of clinical nutrition management to identify children with nutritional risk and to formulate nutritional support treatment prescriptions with the help of nutritional assessment. In 2022, the National Health Commission issued the guidelines for the construction and management of the clinical nutrition department, which put forward the work for nutrition screening and nutrition assessment, and further standardized the clinical application of nutrition screening and malnutrition diagnosis.

Monogenic lupus is a general term for a class of autoimmune diseases with lupus like symptoms, which is usually diagnosed in childhood. Although it is rare for a single gene variant to cause systemic lupus erythematosus (SLE), understanding its principle is helpful for clinicians to gain a deep understanding of SLE. In recent years, with the widespread application of gene sequencing, many new variations have been discovered. This review is to further understand monogenic lupus from known variations and pathogenic pathways, in order to provide a new development direction for patients with lupus to find more accurate diagnostic markers and formulate more personalized treatments, and also to provide possible targets for the research and development of new drugs for such disease.

Pertussis is an acute respiratory infectious disease caused by Bordetella pertussis, which has a long history and can affect people of all ages. The re-emergence of pertussis has become a global issue of great concern, including in China. Since 2022, the number of whooping cough cases reported in China has increased rapidly. The genotype of the main antigen (pertussis toxin) of the current Bordetella pertussis epidemic strain has changed, and the corresponding antigen is different from the vaccine strain, resulting in immune escape, which is one of the important reasons for the recurrence of pertussis. At present, the resistance of Bordetella pertussis to macrolide antibiotics is an important reason for clinical treatment failure, so it is no longer recommended as the first choice for anti-infection treatment of pertussis. For children over 2 months of age with no contraindications to sulfanilamide, trimethoprim-sulfamethoxazole oral administration is recommended as the preferred anti-infection regimen for pertussis catarrhal stage and spasmodic cough stage. Piperacillin or cefoperazone-sulbactam are recommended for children under 2 months of age or with critical symptoms. The improvement or development of a new generation of pertussis vaccine with the same antigen as the prevalent strain will be a long-term strategy to enhance the immune protection of the susceptible population and control the epidemic of the disease.

Neonatal hyperammonemia (NHA) is a neonatal critical disease with high neonatal mortality and rapid progression. During the neonatal period, increased blood ammonia can be caused by a variety of genetic and non-genetic disorders with complex causes, such as urea cycle disorders, organic acidemia, fatty acid metabolism disorders, and acquired hyperammonemia due to other serious systemic diseases. The presenting clinical features are not specific. Early detection and identification of etiology and precise intervention through feeding management, amino-reducing drug and hemodialysis can improve the prognosis.

Inherited metabolic diseases among rare diseases, also known as inborn errors of metabolism, refer to the enzymes, receptors, and cell membrane dysfunctions involved in and caused by genetic defects. These diseases lead to the blockage of metabolic pathways, and an accumulation of intermediate, bypass products, or a lack of terminal products, resulting in a variety of clinical symptoms. In recent years, the advances in detection techniques have enabled a larger number of patients to be diagnosed and treated timelier, shortening the time from disease onset to treatment and improving the quality of outcomes. This article focuses on fluorescence immunoassay techniques, tandem mass spectrometry, gas chromatography-mass spectrometry, gene sequencing, chromosome detection techniques and options of techniques above for inherited metabolic diseases to improve clinicians' understanding.

The X-linked polyendocrine adenopathy enteropathy with immune disorder syndrome (IPEX ) is a primary immunodeficiency disease caused by a variant of the FOXP3 gene, typically presenting with a triad of severe enteropathy, type 1 diabetes mellitus and eczema. The child, a male, started with diabetes, intractable diarrhea, eczema, and recurrent infections, and was diagnosed with IPEX syndrome caused by FOXP3 gene variant by genetic testing, and was eventually treated with umbilical cord blood stem cell transplantation, which improved the child's autoimmune symptoms. In infants with early onset diabetes, intractable diarrhea and eczema, IPEX syndrome should be considered, and genetic testing should be performed. Early hematopoietic stem cell transplantation can prevent disease progression and complications in most children and improve their survival rate.

Hyperphenylalaninemia is a group of autosomal recessive amino acid metabolic disorders, caused by defects in phenylalanine hydroxylase and its coenzyme tetrahydrobiopterin. If left untreated, severe neurological damage will occur. Treatment is based on low-phenylalanine diet therapy and neurotransmitter drug supplementation. Newborn screening for hyperphenylalaninemia began in China in 1982, more and more patients are being diagnosed during the screening. The diagnosis of hyperphenylalaninemia has shifted from the diagnosis of clinical symptoms to biochemical and genetic diagnosis in asymptomatic period. The early differential diagnosis and proper treatment for patients with hyperphenylalaninemia has become a new challenge for clinicians. Therefore, the article focuses on the genetic background, diagnosis, differential diagnosis and treatment of hyperphenylalaninemia, to raise the awareness for the disease among clinicians.

Objective To identify the genetic causes of four patients with different severity of congenital skeletal disorder by genetic diagnosis, and to summarize the clinical characteristics and analyze the genotype-phenotype. Methods The clinical data of four patients were collected. The peripheral blood of the patients and their parents were collected and DNA was extracted. Whole exome sequencing of patients was performed and variants were classified following the interpretation standards and guidelines of the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology. Putative pathogenic variants were verified by Sanger sequencing. Results The four patients all carried TRPV4 heterozygous variants. Two missense variants were inherited from affected parents, and one deletion insertion variant and missense variant were de novo: c.2077G>A (p.Val693Met), c.1199G>A (p.Arg400Gln), c.1657delinsACTA (p.Tyr553delinsThrAsn) and c.259G>A (p.Glu87Lys). None of these variants have been previously reported. Patients 1-3 had varying degrees of short stature, and all 4 had congenital scoliosis and other skeletal deformities. They were diagnosed as mild Metatropic Dysplasia, Autosomal Dominant Brachyomia type 3, Parastremmatic Dysplasia with Metatropic Dysplasia, and classic Metatropic Dysplasia respectively. Their parents with the same variant also had mild bone deformity. Conclusions The phenotypes of congenital skeletal disorders caused by different variants in TRPV4 gene were widely heterogeneous. Patients often present with overlapping skeletal system abnormalities. Therefore, differential diagnosis and clinical intervention can be conducted according to the molecular diagnosis results.

Bronchodilation test (BDT) is a method to detect the reversibility of spastic airway, which is mainly used in the diagnosis, differential diagnosis, treatment and follow-up of wheezing diseases. As awareness of the importance of the bronchodilatation test has increased, its clinical use has rapidly increased. Recently, a large number of researches both nationally and internationally have focued on how to interpret the results in clinical and define the positive thresholds. The purpose of this paper is to explore new standards and opinions, sort out the idea and make recommendations that are suitable for Chinese children.

ObjectiveTo explore the clinical phenotype and identify genetic variations in Chinese patients with Menke-Hennekam syndrome (MKHK). Methods The clinical and genetic data of seven children with MKHK were retrospectively analyzed. Results All of the seven children are presented with psychomotor developmental delay, variable degree of intellectual disability, short stature, and facial dysmorphism (including short and upslanted palpebral fissures, telecanthi, depressed nasal bridge, short nose, long philtrum, protruding or low-set ears and micrognathia), accompanied by other manifestations (2/7 feeding problems, 4/7 visual impairment, 3/7 hearing impairment, 3/7 cerebral anomaly, 2/7 distal limb malformation). The genetic findings of patientsinvolve six different variants: five missense and one in-frame deletion), all of which arose de novo. c.5218C>T and c.5225T>A (NM_004380.3) variants have not been reported previously in literature. Conclusion MKHK is a rare autosomal dominant genetic disease, most of which are caused by heterozygous missense variation in the end of exon 30 and the beginning of exon 31 of CREBBP. This study revealed six de novo variants of CREBBP, further expanding the genetic spectrum of MKHK.

IgA vasculitis (IgAV) is an autoimmune disease caused by IgA deposition in small blood vessels. It is characterized by non-thrombocytopenic purpura, abdominal pain, joint swelling and pain, hematuria or proteinuria. The disease is self-limited, with only a minority progressing to end-stage renal disease in later life. This paper reviews the clinical features of IgAV in children and the mechanisms of renal involvement, and discusses the treatment and prognosis of the disease.

Objective To summarize the clinical characteristics of chromosomal 17q12 microdeletion syndrome in children in order to improve the understanding of the disease. Methods The clinical data of 3 children with chromosomal 17q12 microdeletion syndrome admitted from October 2014 to October 2021 were retrospectively analyzed. Genome-wide chromosomal copy number variation was detected by second-generation sequencing and the relevant literature was reviewed. Results Large deletions (1.89Mb, 1.4Mb and 1.8Mb, respectively) were found on chromosome 17q12 of 3 children (2 boys and 1 girl), and the deletions were all de novo variations. All three patients had renal cysts, hyperuricemia and elevated alkaline phosphatase. Two patients had unilateral renal dysplasia and proteinuria. Two patients had hypomagnesemia, 2 had hypercholesterolemia, 2 had diabetes mellitus, and 1 had elevated liver enzymes. Conclusions Chromosome 17q12 microdeletion syndrome is a rare genetic disorder affecting multiple organ systems, mainly manifesting as renal cysts and dysplasia, as well as metabolic and endocrine abnormalities such as diabetes, hyperuricemia, and hypercholesterolemia.

Airway mucus is an important part of the human respiratory system's defense barrier. Under pathological conditions, excessive mucus secretion will block the airway, cause ventilatory dysfunction, and reduce mucociliary clearance and local defense functions. The common airway mucus hypersecretion disease in children is very different from that in adults. The assessment of airway mucus hypersecretion is still under exploration, and the core of its treatment is to reduce mucus production and promote mucus excretion.

The high-throughput sequencing technology of genomic DNA has greatly improved the diagnostic efficiency of rare diseases, but currently there are still some patients who have not been diagnosed. In recent years, various detection techniques such as transcriptome, proteomics, metabolomics and lipidomics, and epigenetics have gradually been applied in clinical practice, making it possible to comprehensively diagnose rare disease patients based on these multiomics methods. On the other hand, with the increase of confirmed cases, how to effectively integrate patient clinical data and build rare disease databases to meet the construction needs of high-quality research-oriented patient cohorts has become an increasingly important issue for governments around the world. More importantly, the development of big data models that integrate multiomics information can promote the application of artificial intelligence and machine learning in rare disease research. This will contribute to the clinical evaluation and precise classification of rare disease patients, and effectively improve the research and development efficiency of innovative diagnostic and therapeutic technologies such as gene therapy. Rare disease research has entered the era of digital medicine, which is also a practical need to meet the precise diagnosis and personalized treatment of patients at a higher level.