Objective:To discuss the changes of serum levels of Klotho and fibroblast growth factor 23(FGF23)in the small for gestational age(SGA)infants after birth,and to clarify their relationships with growth and development.Methods:A total of 35 SGA and 53 appropriate for the gestational age(AGA)infants were selected and divided into SGA group(n=35)and AGA group(n=53),including 51 infants in premature group,among them 20 infants in preterm SGA group and 31 infants in preterm AGA group;among them 37 infants in full-term group,15 infants in full-term SGA group and 22 infants in full-term AGA group.The clinical materials of the infants in various groups were collected.The levels of Klotho and FGF23 in serum and clinical biochemical markers of the infants on the 7th and 14th days after birth were detected.The relationships between the levels of Klotho and FGF23 in serum on the 7th and 14th days postnatally and newborn growth indicators such as body weight,body length,head circumference,chest circumference,and Kopu index,as well as their correlations with calcium and phosphorus metabolism were analyzed.Results:Compared with AGA group,the body weight,body length,head circumference,chest circumference,and Kopu index of the infants in SGA group were decreased(P<0.05).On the 7th and 14th days after birth,compared with preterm group,the serum levels of Klotho and FGF23 of the infants in full-term group were significantly increased(P<0.01).Compared with the 7th day after birth,the levels of serum Klotho of the infants in preterm and full-term groups on the 14th day were significantly increased(P<0.01),and the levels of FGF23 in serum were decreased(P<0.01).Compared with AGA group,the levels of serum Klotho and FGF23 of the infants in SGA group on the 7th and 14th days after birth were significantly decreased(P<0.05 or P<0.01).Compared with the 7th day after birth,the levels of serum Klotho of the infants in both AGA and SGA groups on the 14th days after birth were significantly increased(P<0.01),and the FGF23 levels were decreased(P<0.05 or P<0.01).Compared with preterm AGA group,the levels of Klotho and FGF23 in serum of the infants in preterm SGA group on the 7th and 14th days after birth were significantly decreased(P<0.05 or P<0.01).Compared with full-term AGA group,the levels of Klotho and FGF23 in serum of the infants in full-term SGA group on the 7th and 14th days after birth were significantly decreased(P<0.05 or P<0.01).In SGA group,the serum levels of Klotho and FGF23 on the 7th day after birth were positively correlated with the gestational age,body weight,body length,head circumference,chest circumference,and Kopu index(P<0.05 or P<0.01);there was a positive correlation between the serum level of Klotho and the serum level of FGF23(P<0.05).In terms of calcium-phosphorus metabolism,in SGA group,the serum level of Klotho on the 7th day after birth was positively correlated with serum phosphorus level(P<0.01),and the level of serum FGF23 on the 7th day after birth was positively correlated with serum calcium and phosphorus levels(P<0.05 or P<0.01).Conclusion:Klotho and FGF23 proteins are closely associated with growth and development and phosphate metabolism of the infants.The expression levels of Klotho and FGF23 in serum of the SGA infants postnatally are lower,but the secretion of Klotho is increased with the gradul improvement of each organ,and the decrease of FGF23 may be the adaptive response.

Objective:To discuss the clinical phenotype and genotype characteristics of two pediatric patients with late-onset methylmalonic acidemia(MMA)cblC type,and to provide the basis for early clinical recognition of MMA.Methods:The clinical data of two pediatric patients with late-onset MMA cblC type were collected,including clinical phenotypes,biochemical detection results,blood and urine organic acid analyses,neuroimaging,electroencephalograms,genotypes and so on.The characteristics of the disease were analyzed in combination with the related literature review.Results:Both pediatric patients were female,with onset in adolescence.Patient 1 presented with psychiatric symptoms,while pediatric patient 2 presented with cognitive impairment.Both pediatric patients experienced weakness in both lower limbs and speech disorders.At initial diagnosis,the serum homocysteine(Hcy)levels were severely increased,the urine methylmalonic acid levels were increased,the brain magnetic resonance imaging results indicated brain atrophy,and the electroencephalogram results showed the increased slow wave activity in both cerebral hemispheres.The pediatric patient 2 exhibited epileptiform discharges in bilateral frontal and temporal regions.The genetic testing results showed the c.482G＞A mutation in the MMACHC gene.Both two pediatric patients were treated with intramuscular injections of vitamin B12,along with oral folic acid,vitamin B6,levocamitine,and betaine.The symptoms of two patierts were improved,the serum Hcy levels were decreased,and the urine methylmalonic acid levels returned to normal.Conclusion:The phenotype of late-onset MM A cblC type is diverse,primarily involving neuropsychiatric impairment,with the c.482G＞A mutation being the most common genotype.The increasing of serum Hcy levels and brain atrophy can serve as the biomarkers for the early recognition of late-onset cblC type pediatric patients.

Objective:To investigate the risk factors of recurrence of febrile seizures within 24 hours, so as to provide clinical evidence for early identification of children with risk factors and taking interventions.Methods:A total of 384 children with febrile seizures admitted to the Department of Pediatrics at Hebei General Hospital from June 2019 to June 2021 were selected as the study subjects, and were divided into single seizure group and recurrent seizures group.The clinical data of two groups and the risk factors of recurrent seizures were analyzed retrospectively.Results:A total of 384 children, aging from six months to five years, were diagnosed with febrile seizures.There were 296 cases in the single seizure group and 88 cases in the recurrent seizures group.First seizure, the age of the first sezures, temperature, duration of seizure ≥15 minutes, positive family history and C-reactive protein levels showed statistically significant differences between two groups(all P<0.05). Logistic regression analysis showed that non-first seizure( OR=2.085, 95% CI 1.232-3.529, P=0.006), the age of first seizure( OR=0.970, 95% CI 0.948-0.993, P=0.010), duration of seizure ≥15 minutes( OR=3.587, 95% CI 1.497-8.596, P=0.004) and positive family history( OR=1.892, 95% CI 1.126-3.180, P=0.016) were risk factors of recurrence of febrile seizures within 24 hours.The ROC curve analysis showed that the combination of four risk factors had a higher predictive value, and the area under curve was 0.974. Conclusion:Non-first seizure, the age of first seizure, cluration of seizure ≥15 minutes and positive family history are the risk factors of recurrence of febrile seizures within 24 hours.Children with four risk factors are more likely to have recurrent seizure, and could be used as an indicator for individualized prediction.

Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.

Objective:To explore the clinical characteristics and genetics of a Chinese patient with Gitelman syndrome (GS) and improve the awareness and diagnosis of GS among clinicians.Methods:Retrospectively analyzed the GS patient's clinical feature, laboratory examination, diagnosis, treatment and literature review admitted to Hebei General Hospital in September 2022.Results:A twelve-year-old boy was admitted to our department due to weakness of lower limbs. Laboratory tests after admission showed hypokalemia, hypomagnesemia, hypocalcemia and metabolic alkalosis. Genetic testing showed tow compound heterozygous mutations in the SLC12A3 gene (c.1456G>A and c.634G>A), which ultimately diagnosed as GS. The patient is on the mend and allowed to leave the hospital after treated by potassium supplement.Conclusion:The rate of leak diagnosis is high. Genetic testing should be undergo earlier if the patients suspected GS.

Klotho protein is an anti-aging gene product, which is involved in the regulation of calcium, phosphate and vitamin D metabolism together with fibroblast growth factor 23 (FGF23). In recent years, studies have found that Klotho/FGF23 is closely related to the growth and development of children and newborns. This paper summarizes the role of Klotho/FGF23 in the occurrence and development of infants small for gestational age, in order to provide further understanding and inspiration for the prevention and treatment of SGA complications.

Klotho is a gene associated with aging, the transmembrane protein encoded by this gene is highly expressed in the kidney, and is also expressed in tissues such as the brain, parathyroid and pituitary glands. The extracellular domain of Klotho can also be cleaved and shed to form soluble Klotho, which acts as a circulating hormone and can be detected in blood, cerebrospinal fluid, and urine. More and more studies have shown that Klotho protein plays an important role in the complex regulation of growth hormone (GH)-insulin-like growth factor 1(IGF1) axis. The interaction between Klotho protein and GH-IGF1 axis is bidirectional, which regulates each other, and then regulates the normal linear growth of children. In addition, Klotho protein can also affect the growth and development of fetus and newborn through different ways, and its mechanism is not very clear.

Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.

Objective:To explore the related factors of pleural effusion in children with Mycoplasma pneumoniae pneumonia.Methods:The children with Mycoplasma pneumoniae pneumonia hospitalized in the Department of Pediatrics at Hebei General Hospital from October 2016 to February 2020 were divided into pleural effusion group and non-pleural effusion group according to the occurrence of pleural effusion.The general conditions and related examination results of two groups were compared, and the related indexes were further analyzed by multi-factor Logistic regression analysis, and the receiver operating characteristic curve was drawn to evaluate the predictive ability of Logistic regression model.Results:All of 174 children, there were 34 cases in pleural effusion group and 140 cases in non-pleural effusion group.There was no significant difference in sex and age between two groups( P<0.05). Univariate analysis showed significant differences in the presence or absence of mediastinal lymphadenopathy, C-reactive protein, procalcitonin, lactate dehydrogenase, serum ferritin and D-dimer between two groups( P<0.05). Multivariate Logistic regression analysis showed that mediastinal lymphadenopathy, lactate dehydrogenase level(>400 U/L), serum ferritin level(>100 ng/mL) and D-dimer level(>1.65 mg/L) were independent risk factors for pleural effusion in children with Mycoplasma pneumoniae pneumonia( OR=3.850, 4.393, 4.930, 6.790, P<0.05). The area under the receiver operating characteristic curve of Logistic regression model was 0.847, with medium to high diagnostic accuracy( P<0.001). Conclusion:When the children with Mycoplasma pneumoniae pneumonia have mediastinal lymphadenopathy, lactate dehydrogenase level >400 U/L, serum ferritin level >100 μg/L, D-dimer level >1.65 mg/L, we should be highly alert to the occurrence of pleural effusion.

Angelman syndrome is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, dyskinesia, speech impairment, pleasant expression, epilepsy and abnormal electroencephalogram.The early symptoms of this disease are not typical, and attention should be paid to identification.In this article, the recent advances in clinical, ubiquitin-protein ligase E3A gene, genetic characteristics, genetic counseling and the treatment strategies of Angelman syndrome will be reviewed.