Objective:To investigate the foot development of children and adolescents in Guangzhou and provide reference for clinical diagnosis and treatment of pediatric flat feet.Methods:Cross-sectional study.The foot health screening data of students from 3 kindergartens, 1 primary school, and 1 middle school in Guangzhou between January 2023 and June 2023 were collected.Foot parameters including foot length, arch index (AI), arch volume (AV), hallux valgus angle, forefoot width, and heel width were measured.Additionally, general information such as gender, age, height, weight, and body mass index (BMI) was also recorded.The students were divided into groups by gender, left and right sides, and subgroups by age (in years).The changes of foot parameters with age were observed in each group, and percentile line charts were drawn.Furthermore, the correlation among BMI, AI, AV, hallux valgus angle and foot length were analyzed.Results:A total of 2 520 students aged 3-18 years were included according to the inclusion criteria.There were 1 382 males and 1 138 females, with a total of 5 040 feet on both sides.The AI of boys decreased at a constant rate before the ages of 14 years.However, the AI values between the ages of 14 and 18 years showed no statistical difference ( P=0.743), with the mean value of 0.27 (0.25, 0.30).The AI of girls decreased at a constant rate before the ages of 12 years.The AI values between the ages of 12 and 18 years had no statistical difference ( P=0.155), with the mean value of 0.25 (0.23, 0.28).In every age group from 3 to 18 years old, the AI value of girls was smaller by 0.01-0.04 than that of boys (all P<0.05).At the ages of 3, 4, 5, 6, 11, and 17 years, the AI of the right foot was 0.01 smaller than that of the left foot (all P<0.05).There were statistically significant differences in arch type between boys and girls at ages other than 3 and 8 years old (all P<0.05).In some age groups, BMI is positively correlated with AI and AV, foot length is positively correlated with AI, and hallux valgus angle is correlated with AI positively and AV negatively.There was a negative correlation between AI and AV across all age groups. Conclusions:Chinese children and adolescents, represented by Guangzhou, have slower development in foot and a larger AI.The arch is in the development stage before the age of 14 years in boys and 12 years in girls.A proper physical therapy is recommended if the AI value deviates from the normal range during development.

Objective:To summarize the clinical manifestations, diagnosis and treatment of a family with hereditary sensory and autonomic neuropathy (HSAN) caused by the SPTLC1 gene variation and to review the literature. Methods:Case summary.The clinical manifestations, neuroelectrophysiology, genetic examination, treatment and follow-up of a family with autosomal dominant HSAN diagnosed at the Department of Neurology, Beijing Children′s Hospital in March 2024 were summarized.At the same time, related English and Chinese literatures were searched from CNKI, Wanfang and PubMed databases from their establishment to July 2024, with " serine palmitoyltransferase long-chain base subunits 1", " hereditary sensory and autonomic neuropathy", " SPTLC1" and " HSAN1" taken as key words.Results:The proband was a 11-year-and-2-month-old boy, who developed limited bending at the age of 7.The patient had ankle pain and knee bending during walking, and limited movement.He could neither jump on one foot nor bend down to pick up things from the ground, but there was no obvious sensory and autonomic nervous function abnormalities.His parents had no abnormal clinical manifestations.Neuroelectrophysiology showed peripheral nerve damage, and family whole exon sequencing revealed a maternal heterozygous missense variation of the SPTLC1 gene c.1015G>A, p.A339T(maternal origin, reported).Further maternal neuroelectrophysiology examination and sphingomyelin analysis confirmed the diagnosis of HSAN1A.The proband wore orthopedic insoles, and the proband and his mother took L-serine orally for 8 months.During the follow up, the proband reported slight improvement in muscle strength, and no adverse reactions were found.Two Chinese and thirteen English case reports on autosomal dominant HSAN caused by the SPTLC1 gene variation were retrieved.Twenty cases had complete clinical data.Therefore, a total of 22 cases, including the above-mentioned two patients, were analyzed.Except for patients whose age at diagnosis is unknown and who are deceased, the age at diagnosis ranged from 7 to 93 years.The 66.7%(14/21) cases were childhood-onset.The first clinical symptoms were mainly gait abnormalities, easy falls, sensory disorders and ulcers.Foot deformity, and autonomic neuropathy were detected in 53.3% (8/15), and 31.6% (6/19) cases, respectively, 15.8% (3/19) of the cases had amputation.Only 1 case was treated with L-serine, who showed partial relief of clinical symptoms, but electromyography was not significantly improved.Fifteen cases received neuroelectrophysiological testing, and 78.6%(11/14) of the patients showed sensory and motor neurogenic injuries.All the gene variations reported previously were missense mutations, and the high frequency variation was p. C133T/W. Conclusions:This study is helpful to improve the understanding of the clinical characteristics of HSAN1A caused by the SPTLC1 gene.Oral L-serine supplementation may benefit patients and gene detection promotes diagnosis confirmation and early treatment.

The clinical data of a case with neonatal hypertrophic cardiomyopathy (HCM) admitted to the Department of Pediatrics, Beijing Anzhen Hospital, Capital Medical University in July 2020 was retrospectively analyzed.The child developed hyperbilirubinemia and severe anemia within 1 hour after birth.The direct Coombs test was negative.The diagnosis of MN hemolytic disease was confirmed by positive results of both the indirect Coombs test and the maternal indirect Coombs test.Echocardiography and cardiac magnetic resonance imaging confirmed the presence of HCM, and genetic testing showed SCN5A and ANK2 gene heterozygous mutations.After treatment with blue light irradiation, intravenous immunoglobulin, red blood cell washing, Dexamethasone and sodium phosphocreatine, the condition improved and the patient was discharged.During the follow-up period, delayed hemolysis occurred 1.5 months after birth, and thus the patient received re-infusion of immunoglobulin and washing of red blood cells.A scalp hemangioma and a break in milk intake were detected 2 and 7 months after birth, respectively.Treatment with Propranolol, Captopril, Hydrochlorothiazide, and Spironolactone improved the condition.The patient was followed up until August 2024, with clinical symptoms significantly improved, no occurrence of anemia, and no further thickening or progression of the myocardium.

Neuroblastoma is a highly heterogeneous extracranial malignant solid tumor commonly detected in children.Over the past decade, with the application of second-generation sequencing technologies such as whole-exome sequencing and whole-genome sequencing, chromatin immunoprecipitation and other techniques, the mechanisms underlying the occurrence and development of high-risk neuroblastoma have gradually become clearer.In this article, recent key molecular events that have been elucidated in the occurrence and development of high-risk neuroblastoma are reviewed.

Post-streptococcal reactive arthritis (PSRA) refers to monoarthritis or polyarthritis that develops secondary to streptococcal infection.PSRA presents similar symptoms to acute rheumatic fever (ARF) but does not meet the diagnostic criteria for ARF.PSRA was classified as the ARF spectrum previously, but an increasing number of reports have shown recently that they are two diseases different in diagnosis, treatment and prognosis.Nowadays, the understanding of PSRA has been improved, but no complete diagnostic guideline is developed.It is hard to differentiate PSRA from ARF and reactive arthritis in clinical diagnosis.There is also controversy about whether antibiotics are needed for long-term preventive treatment, and there is still a lack of research on PSRA in China.In order to provide a reference for domestic research, the clinical features of PSRA and the progress in PSRA diagnosis and treatment are reviewed in this article.

Objective:To summarize and analyze the clinical and genetic characteristics of children with nephronophthisis (NPHP) so as to improve clinicians′ understanding of this disease and provide reference for its early diagnosis.Methods:Retrospective case series study.The clinical and genetic data of 15 children with NPHP diagnosed by gene detection in the Department of Nephrology, Beijing Children′s Hospital, Capital Medical University from January 2016 to June 2024 were retrospectively analyzed.Non-normal distribution measurement data were expressed as median (range) and analyzed by rank sum test.Results:There were 10 boys and 5 girls in the 15 patients included, with a median age of onset of 6.85 years (1.16-14.00 years).The initial clinical manifestations were lack of specificity, and most patients presented non-specific symptoms such as fatigue, growth retardation, polydipsia and polyuria initially.At the first visit, 14 children had renal function damage, and 5 of them had end-stage renal disease (ESRD).Another 4 children progressed to ESRD during the follow-up, and 2 children died during the follow-up.The median age of ESRD or death was 12.25 years (1.87-15.00 years).Renal ultrasound changes were observed in all 15 children, including parenchymal echo enhancement in 14 cases, unclear medullary boundary in 10 cases, renal cysts in 7 cases, and renal volume reduction in 2 cases.Renal histopathological examination was performed in 2 cases, and their results were consistent with the pathological manifestations of early and late NPHP, respectively.NPHP can be complicated with renal, intracranial, cardiac and other extrarenal manifestations. NPHP1, NPHP4, NPHP2, NPHP3, NPHP11, NPHP13 and NPHP18 mutations were detected in 5, 4, 2, 1, 1, 1, and 1 patient, respectively.Previously unreported mutation sites were revealed, including c. 594-3C>G, c.1415T>C, c.37553769delTTCGGGGGACACAGA, c.4067A>C, c.1196A>G, c.4140+ 3G>C, c.1196A>G, c.2101-20A>C, c.643C>T and c. 2087T>C. Conclusions:The onset of NPHP is insidious and it often presents with non-specific manifestations.Laboratory and imaging examinations lack specificity.Generally, renal insufficiency is an early symptom of NPHP, and it progresses rapidly, resulting in poor prognosis.Most patients lose the opportunity for kidney biopsy.NPHP should be considered in children with early onset and unexplained renal insufficiency, and genetic testing is helpful for early diagnosis.

The clinical manifestations and genealogic test results of twin sisters with systemic lupus erythematosus (SLE) caused by the homozygous mutation of NCF1 treated at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from May 2021 to January 2024 were reported.Case 1 (a 8-year-old girl) was admitted in May 2021 due to " epistaxis for two times and thrombocytopenia for more than 1 month", presenting tricytopenia, mainly thrombocytopenia.A homozygous mutation of NCF1 gene c. 269G > A (p.R90H) was detected in case 1, and she was subsequently diagnosed with SLE.Case 2 (a 11-year-old girl), the little sister of case 1, was admitted in January 2024 due to " repeated fever for more than 10 days, cough for 2 days, and convulsion once". The manifestations were reduced myelodysplasia, hemophagy accounted for 66%, and perineal ulcer during treatment.She was finally diagnosed with SLE and also had a homozygous mutation of NCF1 gene c. 269G > A (p.R90H).Their parents both carried the mutation.This case provides a reference for pathogenic mutations and phenotypes of NCF1.It suggests that close attention should be paid to the family history of patients in clinical diagnosis of SLE.

Electrical impedance tomography (EIT) is an emerging functional imaging technology with advantages of non-invasiveness, no radiation, portability, cost-effectiveness, and real-time monitoring capabilities.It is particularly applicable to long-term monitoring in infants and children, and can be used for effective bedside imaging, lung function monitoring, and assessment of lung recruitment.This review aims to summarize the clinical applications of pulmonary EIT in pediatric respiratory diseases and to analyze its advantages and limitations.

21-hydroxylase deficiency (21-OHD) is a rare disease caused by insufficient adrenocortical hormone synthesis and hyperandrogen due to enzyme deficiency during steroid synthesis.Glucocorticoid and mineralocorticoid replacement therapies are main treatment method for 21-OHD.Currently, there are guidelines for the specific dosage and usage of the glucocorticoid replacement therapy, but no detailed evidence is offered for mineralocorticoid dose adjustment.Insufficient mineralocorticoid replacement can lead to an increase in the dose of glucocorticoids and further iatrogenic Cushing′s syndrome.Excessive dosage can result in sodium and water retention and further drug-induced hypertension.Therefore, the dose adjustment and treatment monitoring of Fludrocortisone still need to be further explored.In this article, the progress in mineralocorticoid treatment and monitoring for 21-OHD will be reviewed.

Focal cerebral arteriopathy (FCA) is one of the most common causes of arterial ischemic stroke in children, usually leading to unifocal and unilateral stenosis/irregularity of the large intracranial arteries of the anterior circulation.The pathogenesis of FCA may be related to viral infection and infection-related inflammatory responses.FCA usually presents a self-limited course, but it can present progressive changes in the early stage of the disease.This disease is mainly diagnosed based on neuroimage characteristics and dynamic follow-up observation of clinical and image changes.Magnetic resonance vessel wall imaging is helpful for the diagnosis and further classification of this disease.The treatment of FCA is controversial, and the effectiveness of corticosteroids is still under study.In this article, the clinical and imaging characteristics, treatment and prognosis of FCA will be reviewed in order to improve the understanding of pediatric neurologists.