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06 December 2025, Volume 40 Issue 12 Previous Issue   

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Standardized management of pediatric aortopathy： interpretation of the 2024 AHA scientific statement YU Li-min, ZHANG Chen-mei, ZHAO Shi-guo, et al 2025, 40(12): 969-977.  DOI: 10.19538/j.ek2025120601 Abstract ( )   Pediatric aortopathy has complex etiologies，with different natural disease course and management needs from those of adults. The 2024 scientific statement from the American Heart Association proposes a standardized management framework encompassing imaging assessment，follow-up strategies，pharmacological therapy，and surgical indications. This article reviews the key management principles outlined in the statement and explores the management strategies suitable for China based on the current status of our country，aiming to increase rate of early detection，enhance risk assessment accuracy，and improve long-term outcomes.

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Prioritize nutritional and metabolic interventions for children with mental and behavioral disorders ZHANG Jing-tao, FENG Nan, CHEN Yong-xing, et al 2025, 40(12): 978-984.  DOI: 10.19538/j.ek2025120602 Abstract ( )   Metabolism is the basic characteristics of life，influenced by multiple factors such as genetics，diet，sleep，exercise，environment，and diseases. The human body is composed of substances such as water，proteins，carbohydrates，fats，minerals，vitamins，and hormones. Under normal circumstances，these components undergo orderly anabolic and catabolic processes to sustain life and maintain health. Brain damage is a manifestation of various acute and chronic diseases. Abnormal mental behavior is often a primary or initial symptom of certain nutritional and metabolic disorders. Among acquired factors，common conditions such as vitamin deficiencies，amino acid deficiencies，fatty acid deficiencies，nutritional imbalances，and inflammatory diseases can lead to metabolic abnormalities. Among congenital factors，rare diseases such as inborn errors of metabolism （affecting amino acids，organic acids，and fatty acids） and mitochondrial disorders are recognized as the causes of mental and psychological diseases. Comprehensive diagnostic examinations such as blood and urine testing，electrocardiography，electroencephalography and imaging，chromosomography and genetic testing are helpful to analyze the causes and identify the underlying diseases An individualized diet，nutrition，exercise，adequate sleep，and proper lifestyle are key strategies to improve internal metabolic balance. The review expounds on the nutrients required by the human body and related metabolic diseases.

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Management of nutrition and metabolism in adolescence CHEN Zhe-hui, LU Mei 2025, 40(12): 985-988.  DOI: 10.19538/j.ek2025120603 Abstract ( )   Adolescence is a critical period of development，characterized by rapid physical growth，sexual maturation，and the formation of behavioral and cognitive patterns. In recent years，there has been a sharp increase in the incidence of health issues among adolescents，including obesity，diabetes，hyperuricemia，cardiovascular and cerebrovascular diseases，and mental and behavioral problems. These are closely related to nutritional and metabolic abnormalities during puberty. Adolescent development is influenced by multiple factors，such as genetics，neuroendocrine，nutritional metabolism，and living environment. Among these，nutritional and metabolic interventions，along with lifestyle management，represent key modifiable factors. Therefore，systematic nutritional and metabolic screening，comprehensive assessment，and personalized interventions help to promote adolescent health. These measures hold significant clinical and public health importance in preventing and managing adolescent diseases and chronic conditions in adulthood.

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Folate and the diseases caused by abnormal folate metabolism WANG Qiao, YANG Yan-ling, WU Di 2025, 40(12): 988-994.  DOI: 10.19538/j.ek2025120604 Abstract ( )   Folate is an essential water-soluble vitamin for the human body，involved in various metabolic processes. Defects in enzymes related to folate metabolic passway and transport carriers of folate can lead to diseases. Patients with folate metabolic disorders primarily exhibit neurological and psychiatric symptoms as well as abnormalities in the hematopoietic system. The keys to diagnosis include the detection of 5-methyltetrahydrofolate in serum and cerebrospinal fluid and genetic sequencing. With early diagnosis，most patients can achieve good outcome through folate supplementation.

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Thiamine and thiamine metabolism dysfunction syndrome LI Dong-xiao, GUO Ming-wei, YANG Yan-ling 2025, 40(12): 994-999.  DOI: 10.19538/j.ek2025120605 Abstract ( )   Thiamine is an essential water-soluble vitamin，playing a vital role in mitochondrial energy metabolism. Thiamine deficiency can affect the metabolic，nervous，cardiovascular，respiratory，gastrointestinal，and musculoskeletal systems. The causes of thiamine deficiency include primary and secondary factors. The primary cause is genetic defects in proteins involved in thiamine transport and metabolism，leading to inborn errors of thiamine metabolism known as thiamine metabolism dysfunction syndromes （THMD）. Five types have been identified，namely THMD1 to THMD5. The patients with THMD1 presents with the classic triad of diabetes mellitus，megaloblastic anemia，and sensorineural hearing loss. THMD2 to THMD5 primarily involve the nervous system. The patient’s brain MRI usually shows Leigh or Leigh-like syndrome. Early intervention with high-dose thiamine can significantly improve outcomes of the patients. THMD is often misdiagnosed and misses the optimal treatment window，ultimately resulting in death or permanent neurological sequelae. This article aims to analyze the clinical characteristics of thiamine and thiamine metabolism dysfunction syndromes and enhance vigilance against thiamine deficiency，facilitating timely interventions to reduce disability and mortality.

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Gut microbiota：role and challenge in the prevention and management of childhood obesity LI Xiao-ping, YANG Yan-ling, ZHANG Yi-ning 2025, 40(12): 999-1004.  DOI: 10.19538/j.ek2025120606 Abstract ( )   Childhood obesity has become a major global public health issue. Conventional prevention and treatment strategies usually have poor long-term outcomes. The studies in recent years have shown that the gut microbiota is a key mediator between the environment and the host metabolism，and the composition and dysbiosis of gut microbiota contribute to childhood obesity， affecting energy harvest，dietary metabolism，low-grade inflammation，insulin sensitivity，and appetite regulation. Microbiota-targeted interventions，such as specific diets and pre/probiotics，have shown promise as adjuncts to lifestyle changes，but the clinical use is hampered by the microbiota’s complexity，individual variability，uncertain causality，and limited technological efficacy and insufficient data of long-term safety. Fecal microbiota transplantation requires extreme caution in the treatment of pediatric obesity due to unclear risk-benefit. Clinicians should take a rational perspective on gut microbiota intervention，and consider healthy lifestyles as the cornerstone of management. Optimizing diet with high-fiber and diversity remains the most fundamental，safe and effective strategy for modulation of gut microbiota and prevention and treatment of obesity. Future research on gut microbiota should focus on causal mechanisms，developing multi-omics-guided personalized interventions and exploring preciser and safer microecological agents.

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Diagnosis and metabolic treatment of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ZHANG Yi-dan, WU Di, YANG Yan-ling, et al 2025, 40(12): 1004-1009.  DOI: 10.19538/j.ek2025120607 Abstract ( )   3-hydroxy-3-methylglutaryl-CoA lyase deficiency（HMGCLD），also known as 3-hydroxy-3-methylglutaric aciduria，is a rare autosomal recessive disorder. The disease can present at any age，most often triggered by stress factors such as infection，hunger，or fatigue，which can lead to acute metabolic decompensation. Without timely intervention，the disease may be fatal，while survivors often develop neurological sequelae. Approximately one-third of reported cases have first onsets during the neonatal period. Common clinical manifestations include hypoketotic hypoglycemia，hyperammonemia，severe metabolic acidosis，hepatic dysfunction，seizures，and coma. Diagnosis relies on plasma amino acid and acylcarnitine profiling，urinary organic acid analysis，and genetic testing. Biochemically，patients typically show elevated 3-hydroxyisovalerylcarnitine（C5OH） and reduced free carnitine in plasma，increased urinary excretion of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid，and HMGCL gene variants. HMGCLD is a treatable organic acidemia. Long-term management focuses on restricting protein and fat intake and supplementation of L-carnitine and other essential nutrients. To enhance clinical awareness of the disease，this review provides a comprehensive summary of the pathogenesis，clinical manifestations，diagnostic approaches，and therapeutic strategies for HMGCLD.

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Diagnosis and nutritional metabolic therapy of lysinuric protein intolerance HAO Hui-min, CHEN Yong-xing, YANG Yan-ling 2025, 40(12): 1009-1014.  DOI: 10.19538/j.ek2025120608 Abstract ( )   Lysinuric protein intolerance（LPI） is a rare autosomal recessive disorder caused by pathogenic variants in the SLC7A7 gene，which impairs the transport of lysine，arginine，and ornithine in the intestine and kidneys. Previously considered as a urea cycle disorder with a favorable prognosis，LPI is now recognized to present with complex phenotypes that lead to hyperammonemia and multi-system damage involving the liver，brain，lungs，kidneys，and immune system. Management strategies such as a low-protein diet，nutritional support，and metabolic interventions have proven beneficial. The pathogenesis of LPI remains incompletely understood and can’t be fully explained solely by urea cycle dysfunction. Preventing and managing complications represent ongoing challenges in LPI research. This review synthesizes current domestic and international studies to systematically analyze the pathogenesis，clinical features，and diagnostic and therapeutic advances in LPI，aiming to provide references for improving clinical diagnosis and treatment and long-term management strategies.

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Diagnostic value of hand bone X-ray features in growth and skeletal nutritional and metabolic disorders in children WU Jing, ZHOU Jin-pu, WANG Xiao, et al 2025, 40(12): 1014-1019.  DOI: 10.19538/j.ek2025120609 Abstract ( )   Hand bone X-ray examination represents a pivotal auxiliary means for the assessment of skeletal and physical development in pediatric populations. It plays a critical role in the evaluation of individual growth and maturity，as well as in the diagnosis of common and rare skeletal disorders. The development of hand bones is influenced by multiple factors，including gender，nutritional status，metabolic conditions，chronic diseases，endocrine hormones，genetic background，and social environment. This article mainly summarizes the X-ray features of bone development and skeletal deformities in hand，and elucidates their correlations with various diseases，further enhancing the understanding of the clinical utility and diagnostic value of hand radiographs.

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Paying attention to the nutritional function and metabolic regulation of cholesterol MA Wei-meng, ZHANG Jing-tao, ZHANG Yao, et al 2025, 40(12): 1020-1023.  DOI: 10.19538/j.ek2025120610 Abstract ( )   Cholesterol is a key structural component of eukaryotic cell membranes. It maintains the stability and fluidity of the membrane by regulating packing density of lipid. It is also a core component of lipid raft microdomain，participating in cellular signal transduction. Physiologically，cholesterol is an essential precursor for many vital substances in human body，such as steroid hormones，vitamin D，and bile acids. Particularly in the nervous system，Cholesterol plays a critical role in neural insulation,synaptic plasticity，and neuro-development,as a major component of myelin. Cholesterol homeostasis relies on the precise regulation of multiple metabolic pathways，including synthesis，uptake，efflux，and esterification. Key genes such as HMGCR，NPC1L1，ABCA1，ABCG1，and LCAT play central roles. Cholesterol plays a dual role in maintaining health balance. Hypercholesterolemia increases the risk of atherosclerotic cardiovascular diseases，specific types of cancer，Alzheimer’s disease and some other disorders. However，cholesterol insufficiency can also disrupt cell membrane function，impair neural transmission，and lead to endocrine disorders. Given the complex regulatory mechanisms of cholesterol metabolism in human，recent nutritional perspectives no longer simply set an upper limit for dietary cholesterol intake，but emphasize its indispensability in physiological function，and advocate for balance in overall dietary patterns. Future research should focus on the balance between the nutritional value of cholesterol and individual metabolism to precisely prevent and treat related diseases.

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Phytonutrients in child health promotion and disease prevention and treatment ZHANG Hui-feng, XING Yu-tong 2025, 40(12): 1024-1027.  DOI: 10.19538/j.ek2025120611 Abstract ( )   Phytonutrients are naturally occurring bioactive compounds in plants，primarily including polyphenols，terpenoids，flavonoids，carotenoids，phytosterols，and phytoestrogens. Through antioxidant，anti-inflammatory，and immunomodulatory mechanisms，they contribute to health promotion and disease prevention and treatment. The impact of these phytonutrients may differ between children in the growth and development stage and middle-aged or elderly populations experiencing gradual aging and functional decline. In adults，phytonutrients are primarily used in areas such as cardiovascular diseases，cancer，diabetes，neuroprotection，and anti-aging. In contrast，children are in a phase of rapid growth，and their metabolic and immune systems are not yet fully mature. Therefore，the emphasis in children lies more heavily on health promotion，while also addressing disease prevention and management. Phytonutrients profoundly influence child health by modulating immune function，neurodevelopment，and metabolic processes. Phytonutrients can be a “double-edged sword ”：appropriate use can promote health and aid in preventing and treating diseases，whereas improper application may pose health risks.

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The “hidden killer” behind abdominal pain in children： extra-abdominal critical illnesses JI Jian, QIAN Su-yun 2025, 40(12): 1028-1031.  DOI: 10.19538/j.ek2025120612 Abstract ( )   In pediatric outpatient and emergency departments，the initial symptoms of extraperitoneal critical illness with abdominal pain as the main complaint are often rather concealed，but they progress rapidly and are prone to misdiagnosis or missed diagnosis．This article reveals the concealment and high risk of several abdominal critical conditions in pediatrics by analyzing typical cases such as posterior cranial fossa tumors，pericardiotomy syndrome，fulminant myocarditis and diabetic ketoacidosis．The article proposes a systematic diagnosis and treatment mindset：detailed inquiry of medical history to capture atypical clues，comprehensive physical examination beyond abdominal assessment，and precise selection of auxiliary examinations．Early identification and multidisciplinary collaboration are the keys to improving prognosis，warning clinicians to broaden their diagnostic thinking and avoid missed diagnoses．

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Analysis of clinical features of 81 children with Chlamydia pneumoniae pneumonia NIU Yan-hua, SUN Chao, GU Hao-xiang, et al 2025, 40(12): 1032-1037.  DOI: 10.19538/j.ek2025120613 Abstract ( )   Objective　To analyze the clinical features of 81 children with Chlamydia pneumoniae pneumonia. Methods　A retrospective analysis was conducted on the medical records of 81 children with Chlamydia pneumoniae pneumonia admitted to the Respiratory Department，Shanghai Children’s Hospital，School of Medicine，Shanghai JiaoTong University between January 2024 and May 2025. Data collected included demographic characteristics，clinical manifestations，laboratory parameters，chest imaging findings，and treatment situation. The clinical features were analyzed. Results　The peak incidence occurred in children aged 6~12 years，accounting for 75.31%（61/81） of cases. Male patients（53 cases，65.43%） outnumbered female patients（28 cases，34.57%）. All patients presented with cough，and pulmonary moist rales and fever were observed in 53.09%（43/81） and 46.91%（38/81） of the patients，respectively. Pulmonary consolidation was the most common imaging finding，presenting in 92.59%（75/81） of cases. Totally 52 children（64.20%） had a hospital stay of ≤5 days，while 35.80%（29/81） were hospitalized for 6~10 days. 77.78%（63/81）of the patients underwent diagnosis and treatment using electronic bronchoscopy. Endobronchitis was the predominant bronchoscopic finding； plastic bronchitis and necrotizing pneumonia were observed in only 7.94%（5/63） and 6.35%（4/63） of cases，respectively. The co-infection rate was 53.09%（43/81）， with bacterial co-infection being the most common（25.93%），primarily involving Streptococcus pneumoniae and Haemophilus influenzae. Viral coinfection accounted for 16.05%，predominantly rhinovirus. Severe pneumonia was identified in 48.15%（39/81）of patients. Compared with the mild group，the severe group had higher CRP levels，a higher proportion of patients undergoing electronic bronchoscopy treatment，and a higher incidence of mixed infection （P<0.001），and there were statistically significant differences. In terms of drug treatment，72.84%（59 cases） of the children used minocycline，and 22.22%（18 cases） used macrolide antibiotics alone. About 9.88%（8 cases） received low-dose methylprednisolone due to bronchoscopic findings suggesting plastic，obstructive，or necrotizing pneumonia. All children were followed up with imaging examinations at 1 week to 1 month after discharge，which showed the lung inflammation was significantly absorbed. Conclusion　Chlamydia pneumoniae pneumonia primarily affects school-aged children，with a higher incidence in males. A high proportion of cases are severe，with elevated CRP levels，and high co-infection rates which are the clinical features worthy of concern. In children aged ≥8 years，novel tetracyclines may represent an effective treatment option，and some children may need to be treated with combined glucocorticoid therapy.

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A 20-year single-center clinical analysis of pediatric Still’s disease ZHANG Yue, GAO Si-hao, ZHOU Yu, et al 2025, 40(12): 1038-1043.  DOI: 10.19538/j.ek2025120614 Abstract ( )   Objective　To analyze the clinical features，therapeutic evolution，and fatal cases of Still’s disease in children，thereby enhancing pediatricians’ understanding and management of this disease. Methods　This single-center retrospective study analyzed clinical data of 161 patients with Still’s disease admitted to Peking Union Medical College Hospital between January 1，2003 and December 31，2022. Diagnoses were made according to the 2001 criteria proposed by the International League of Associations for Rheumatology（ILAR） Taskforce. Clinical manifestations，treatments，and outcomes were retrospectively analyzed. Results　The median age at onset was 7.6 years，with 84 being boys （52.2%）. Still’s disease accounted for 3.3% of all pediatric rheumatology inpatients under 16 years and 14.3% of children hospitalized for fever of unknown origin during the same period. Common manifestations included fever，rash，lymphadenopathy，and hepatomegaly and/or splenomegaly. Around 88.2% of patients had joint involvement，mainly affecting the knees，ankles，and wrists. The past treatment regimens included glucocorticoids（GC） alone，GC combined with methotrexate（MTX），GC combined with cyclosporine（CsA），and tumor necrosis factor（TNF） inhibitors. In the past decade，new regimens with tocilizumab，interleukin-1 inhibitors have been introduced. Using time to treatment（IL-1） inhibitors，and Janus kinase（JAK） failure as the outcome indicator，tocilizumab showed significantly better efficacy than GC+MTX（HR=0.43，95% CI=0.22-0.85），while GC alone was significantly inferior to GC+MTX（HR=1.89，95% CI=1.17-3.08）. Two female patients died during hospitalization due to systemic infections. Conclusion　The therapeutic strategies for Still’s disease have evolved substantially over the past 20 years. In the last decade，IL-6-targeted therapies have markedly improved patient outcomes，though clinicians should remain vigilant for infection risks associated with high-dose glucocorticoid pulse therapy.

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Chlamydia pneumoniae pneumonia with mucous plug in children： a case-control study LI Ling, CHEN Wen-jing, LIN Yan-fen, et al 2025, 40(12): 1044-1048.  DOI: 10.19538/j.ek2025120615 Abstract ( )   Objective　A case-control study was conducted on the presence or absence of respiratory mucus thrombus formation in children with chlamydia pneumoniae pneumonia（CPP）， and the risk factors for mucus thrombus formation were explored. Methods　Children diagnosed with CPP and undergoing fiberoptic bronchoscopy at the Children’s Hospital Affiliated to Zhejiang University School of Medicine from June 2024 to June 2025 were retrospectively included. They were divided into the mucus thrombus group and the non-mucus thrombus group based on whether there was mucus thrombus blocking the airway under bronchoscopy. Clinical features， laboratory data， and imaging findings were compared between the two groups. Results　Of the 110 enrolled children （68 boys，42 girls；mean age 10.3 years），33（30 %） had mucous plugs. Compared with the non-plug group，these children exhibited higher white blood cell and platelet counts，a greater incidence of hypokalemia and atelectasis，and had received macrolide therapy more frequently and for a longer duration before BAL（P<0.05）. Multivariable logistic regression identified platelet count（OR=1.006，95% CI：1.000-1.011，P=0.049） and hypokalemia（OR=7.743，95% CI：1.179-50.834，P=0.033） as independent predictors of plug formation. The Hosmer-Lemeshow test confirmed good model fit（P=0.33）. Conclusion　Elevated platelet count and hypokalemia are readily available early markers of impending mucous plug formation in pediatric CPP. Prompt correction of electrolyte imbalance and early BAL should be considered to prevent obstructive complications.

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Report on three death cases of severe pertussis treated with ECMO XIE Qian-ru, YANG Li-jun, ZHAO Wen-ting, et al 2025, 40(12): 1049-1052.  DOI: 10.19538/j.ek2025120616 Abstract ( )   Three death cases of severe pertussis treated with extracorporeal membrane oxygenation（ECMO） from January to April 2024 were collected. Among the 3 children aged 3 months and 7 days to 4 months and 8 days，all had moderate to severe pulmonary hypertension before ECMO and were complicated with other pathogen infections. The ECMO support times were 124 hours,27 hours and 192 hours respectively. There was one case of irreversible acute kidney injury and one case of cerebral infarction before the primary disease was effectively controlled. Children with severe pertussis have extremely high white blood cell count due to pertussis toxin and other factors，leading to acute pulmonary hypertension，and the mortality is high. ECMO can be used as a rescue treatment for children with severe pertussis，and ECMO should be initiated as early as possible before circulatory failure occurs.

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A case report of very long-chain acyl-CoA dehydrogenase deficiency（VLCADD） in a pediatric patient TIAN Yue-teng, GUO Ting-yi, LIU Xue-yan, et al 2025, 40(12): 1053-1056.  DOI: 10.19538/j.ek2025120617 Abstract ( )   A retrospective analysis was conducted on the clinical data of a child with myopathy of very long-chain acyl-CoA dehydrogenase deficiency（VLCADD） admitted to the Department of Pediatrics of Shengjing Hospital，China Medical University in October 2024. And review the relevant literature to summarize the characteristics such as the onset，diagnosis and treatment process，and genetic testing results of children with myopathy VLCADD. The patient，a 6-year-old girl，presented with recurrent episodes of skeletal muscle involvement，including myalgia and muscle weakness triggered by infection or physical exertion during school age. Laboratory findings revealed markedly elevated serum creatine kinase（CK） levels. Tandem mass spectrometry demonstrated elevated levels of C14∶1 and multiple long-chain acylcarnitines. Genetic testing identified compound heterozygous mutations in the ACADVL gene：c.1276G>A and c.637G>A，confirming the diagnosis of myopathic VLCADD. Literature analysis identified 40 pediatric myopathic VLCADD cases. A total of 54 ACADVL gene variants were detected，encompassing 45 distinct mutation types. All cases exhibited favorable prognoses，with no reported fatalities.