Analysis of related factors for neuropsychiatric comorbidities in children with epilepsy.

OBJECTIVE: To analyze the risk factors affecting psychiatric behavior and study the psychobehavioral conditions of children with epilepsy. METHOD: We randomly selected and enrolled 294 children with epilepsy who visited and were hospitalized in the pediatric clinic of Hebei General Hospital between January 2017 and January 2022, as the study participants. We comprehensively assessed their cognitive functions using the Gesell development schedule or Wechsler Intelligence Scales. The participants were divided into the study group (n = 123) with cognitive impairment and the control group (n = 171) with normal cognitive functions, for analysis. RESULTS: There were statistically significant differences between the two groups in disease course, frequency of epilepsy, status epilepticus, and the number of antiseizure medications (ASMs) used (P < 0.05), while there were no statistically significant differences in age, gender, age of onset, form of onset, interictal epileptiform discharge, history of febrile convulsion, and the time from onset to initial visit (P > 0.05). Based on multivariate logistic regression analysis, the course of disease, frequency of onset, status epilepticus and number of ASMs used were identified as high-risk factors for cognitive impairment in children with epilepsy. Similarly, early onset, long course of disease, known etiology, and combination of multiple drugs have a negative impact on behavioral problems, school education, and social adaptability. CONCLUSION: The course of disease, the frequency of onset, status epilepticus, and the number of ASMs used are high-risk factors for cognitive impairment in children with epilepsy, which can be prevented and controlled early. When selecting ASMs, their advantages and disadvantages should be weighed. Moreover, the availability of alternative treatment options must be considered. With the help of genomic technology, the causes of epilepsy should be identified as early as possible, and precision medicine and gene therapy for children with epilepsy should be actively developed.

[Effect of recombinant human growth hormone on serum Klotho and fibroblast growth factor 23 in children with idiopathic short stature]. / é‡ç»„äººç”Ÿé•¿æ¿€ç´ æ²»ç–—å¯¹ç‰¹å‘æ€§çŸ®å°ç—‡å„¿ç«¥è¡€æ¸ Klothoå’Œæˆçº¤ç»´ç»†èƒžç”Ÿé•¿å› å­23的影响.

OBJECTIVES: To investigate the changes in the serum levels of Klotho, fibroblast growth factor 23 (FGF23), and insulin-like growth factor-1 (IGF-1) in children with idiopathic short stature (ISS) before and after recombinant human growth hormone (rhGH) treatment, as well as the correlation of Klotho and FGF23 with the growth hormone (GH)/IGF-1 growth axis in these children. METHODS: A prospective study was conducted on 33 children who were diagnosed with ISS in the Department of Pediatrics, Hebei Provincial People's Hospital, from March 10, 2021 to December 1, 2022 (ISS group). Twenty-nine healthy children, matched for age and sex, who attended the Department of Child Healthcare during the same period, were enrolled as the healthy control group. The children in the ISS group were treated with rhGH, and the serum levels of Klotho, FGF23, and IGF-1 were measured before treatment and after 3, 6, and 9 months of treatment. A correlation analysis was conducted on these indexes. RESULTS: There were no significant differences in the serum levels of IGF-1, Klotho, and FGF23 between the ISS and healthy control groups (P>0.05). The serum levels of Klotho, FGF23, and IGF-1 increased significantly in the ISS group after 3, 6, and 9 months of rhGH treatment (P<0.05). In the ISS group, Klotho and FGF23 levels were positively correlated with the phosphate level before treatment (P<0.05). Before treatment and after 3, 6, and 9 months of rhGH treatment, the Klotho level was positively correlated with the IGF-1 level (P<0.05), the FGF23 level was positively correlated with the IGF-1 level (P<0.05), and the Klotho level was positively correlated with the FGF23 level (P<0.05), while Klotho and FGF23 levels were not correlated with the height standard deviation of point (P>0.05). CONCLUSIONS: The rhGH treatment can upregulate the levels of Klotho, FGF23, and IGF-1 and realize the catch-up growth in children with ISS. Klotho and FGF23 may not directly promote the linear growth of children with ISS, but may have indirect effects through the pathways such as IGF-1 and phosphate metabolism. The consistent changes in Klotho, FGF23 and IGF-1 levels show that there is a synergistic relationship among them in regulating the linear growth of ISS children.

Analysis of serum insulin-like growth factor-1, fibroblast growth factor 23, and Klotho levels in girls with rapidly progressive central precocious puberty.

To study the levels of serum insulin-like growth factor 1 (IGF-1), fibroblast growth factor 23 (FGF23), and Klotho, and to study their relationship with girls with rapidly progressive central precocious puberty (RP-CPP). This is a cross-sectional study on the progression rate of central precocious puberty in girls, who complained of breast development before the age of 8 years and were followed between June 2021 and June 2022. At the same time, 28 healthy girls less than 8 years old who had not started puberty were recruited as the control group. The physical examination and laboratory evaluation of each group was completed. Only patients with CPP received pelvic ultrasound examination and bone age test. Bone age index (BAI), basal LH levels (BLH), basal LH levels/basal FSH levels (BFSH), peak LH (PLH)/peak FSH (PFSH), IGF-1, Klotho, FGF23, and ovarian volume in the RP-CPP group were higher than those in slowly progressive CPP (SP-CPP) group. In the RP-CPP group, IGF-1 was correlated with Klotho, FGF23, and BLH; Klotho was correlated with FGF23 and BLH; FGF23 was correlated with BLH. CONCLUSION: The BLH, FGF23, Klotho, and IGF-1 have a certain correlation with RP-CPP, which may play an important role in the speed of girls' sexual development. WHAT IS KNOWN: • The association between IGF-1 and RP-CPP. WHAT IS NEW: • We found the association between FGF23, Klotho and RP-CPP.

A Meta-Analysis of the Risk Factors of Persistent Pulmonary Hypertension in Newborns.

Objective: To determine the risk factors of persistent pulmonary hypertension of the newborn using a meta-analysis method and provide a reference for its clinical prevention and treatment. Methods: A meta-analysis was performed by searching the PubMed, Embase, Cochrane Library, China Biology Medicine Disc, Wanfang, and Chinese VIP journal databases, as well as the China National Knowledge Infrastructure. Results: A total of 22 references were included in the meta-analysis; the cumulative medical records comprised 7,937 cases, and 2,613,072 control cases were included. A total of 12 related risk factors were included (7 were associated with pregnant women and 5 were associated with newborns). Conclusion: Among the 12 associated risk factors included, the three most important and their combined odds ratio values and 95% CI were as follows: (1) pregnant women smoking, 4.85 (1.98-11.9) during pregnancy; (2) gestational weeks <37, 4.34 (1.64-11.5); (3) perinatal asphyxia, 3.9 (2.87-5.31).

Influence of Different Antiepileptic Drugs on Blood Ammonia and Homocysteine Levels in Children with Epilepsy.

In this study, we performed a study on 106 children with epilepsy who were treated with sodium valproate (the VPA group, n = 37), oxcarbazepine (the OXC group, n = 34), or levetiracetam (the LEV group, n = 35). In addition, the clinical data of epileptic children who were newly diagnosed in the same period without antiepileptic drug (AED) treatment (the untreated group, n = 35) and normal children who received physical examination in our hospital (the healthy group, n = 35) were selected as controls. We analyzed the efficacy and safety of different AEDs, used blood ammonia and homocysteine levels as the observation indicators, and calculated the incidence of hyperammonemia (VAH) and hyperhomocysteinemia (HHcy) treated with different AEDs. And, based on the effect of epilepsy status on the cognitive function of patients, we also analyzed the effect of different AED treatments on children's cognitive function. Our results show that sodium valproate, oxcarbazepine, and levetiracetam are all effective in the treatment of children with epilepsy and can be used as the first-line choice of antiepileptic treatment for children with epilepsy. However, compared with sodium valproate, levetiracetam and oxcarbazepine have a lower incidence of adverse drug reactions and do not cause an increase in blood ammonia and Hcy levels, so they have higher safety of drug treatment. In addition, compared with sodium valproate, levetiracetam and oxcarbazepine have better recovery of cognitive function in children with epilepsy and so they have better application value.

Congenital muscular dystrophies in China.

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first-level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2-related CMD (36.4%), followed by COL6-related CMD (23.2%) and α-dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.

[Expression of nesfatin-1/NUCB2 and ghrelin in gastric mucosa of rats with intrauterine growth retardation].

OBJECTIVE: To investigate the expression of nesfatin-1/NUCB2 and ghrelin in the gastric mucosa of rats with intrauterine growth retardation (IUGR) and its significance. METHODS: The IUGR animal model was established by feeding rats low-protein diets during their pregnancy. Newborn rats were divided into catch-up growth, non-catch-up growth and control groups. Protein and mRNA levels of nesfatin-1/NUCB2 and ghrelin in the gastric mucosa of rats were determined by RT-PCR and Western blot, respectively. RESULTS: Nesfatin-1/NUCB2 mRNA and protein were expressed in the gastric mucosa of rats immediately after birth, and their expression increased in an age-dependent manner in all three groups. Furthermore, the level of nesfatin-1/NUCB2 in the catch-up growth group was higher than that in the control group before weaning, whereas there was no significant difference in nesfatin-1/NUCB2 expression between the two groups after weaning. The level of nesfatin-1/NUCB2 in the non-catch-up growth group was lower than that in the catch-up growth group during the whole observation period. The level of ghrelin in the catch-up growth group was higher than that in the control group starting from day 12 after birth, whereas there was no significant difference in ghrelin expression between the two groups after weaning. The level of ghrelin in the non-catch-up growth group was lower compared with those in the catch-up growth and control groups from days 12 to 28 after birth. CONCLUSIONS: Nesfatin-1 and ghrelin are co-expressed in the gastric mucosa of rats with IUGR after birth and interact with each other to produce long-term nutritional regulation.

Nesfatin-1 in newborns: relationship with endocrine and metabolic and anthropometric measures.

OBJECTIVE: To explore the relationship between nesfatin-1 and growth and development in newborns. METHODS: Blood samples for nesfatin-1, ghrelin, insulinlike growth factor-1 (IGF-1), insulin and glucose were obtained from preterm (n = 53) and term infants (n = 60), including appropriate for gestational age (AGA) (n = 32) and small for gestational age (SGA) infants (n = 28). The relationship between nesfatin-1 and other metabolic hormones or anthropometric parameters was evaluated. RESULTS: The concentrations of nesfatin-1, ghrelin and insulin and the homeostasis model assessment-insulin resistance index (HOMA-IR) were higher in SGA than AGA infants (p = 0.0358, 0.0163, 0.0001 and 0.0051, respectively), but IGF-1 levels and homeostasis model assessment-insulin sensitivity index (HOMA-ISI) were lower (p = 0.033 and 0.0001, respectively). Nesfatin-1 levels in SGA infants were higher on postnatal day 0 (PNDO) than in AGA infants (p = 0.0358) and lower on PND7 (p = 0.0002) and PND28 (p = 0.0488). A negative correlation showed between nesfatin-1 and oral calorie intake (r = -0.446; p = 0.017) and HOMA-ISI (r = -0.398; p = 0.036), and a positive correlation between nesfatin-1 and HOMA-IR (r = 0.43; p = 0.023) in SGA infants. CONCLUSION: Nesfatin-1 is involved in the physiological regulation of intrauterine and postnatal growth and development in SGA infants.

[Relationship of plasma ghrelin, IGF-1 and insulin with the growth and development of 2 -7 year-old children with small for gestational age at birth].

OBJECTIVE: To explore the relationship of Ghrelin, insulin-like growth factor-1 (IGF-1) and insulin with the growth and development of 2 -7 year-old children with small for gestational age (SGA) at birth. METHODS: The levels of ghrelin, IGF-1, IGFBP-3, insulin and glucose were measured in the children with preterm SGA and term SGA and compared with the children with preterm appropriate for gestational age (AGA) and term AGA. The correlation of ghrelin with IGF-1, IGFBP-3 and insulin was analyzed. RESULTS: Plasma ghrelin in preterm SGA was higher than that in term SGA (P < 0.05), and there was no significant difference between preterm SGA and preterm AGA (P > 0.05). Plasma ghrelin in preterm AGA and term SGA was higher than that in term AGA (P < 0.05, P < 0.01 respectively). Serum IGF-1 and IGFBP-3 in preterm SGA were lower than those in term SGA (P < 0.05 for all) and serum IGF-1 and IGFBP-3 in preterm AGA were much lower than those in term AGA (P < 0.0001 for all). The level of serum insulin was the highest in term SGA. The trend of insulin resistance index (IRI) was similar to insulin. There were negative correlations of ghrelin with other indexes (weight SDS, IGF-1, IGFBP-3, insulin and IRI) in preterm SGA and term SGA (in preterm SGA r = -0.683, P < 0.002; r = -0.749, P < 0.001; r = -0.828, P < 0.001; r = -0.694, P < 0.005; r = -0.822, P < 0.001; in term SGA r = -0.792, P < 0.001; r = -0.707, P < 0.002; r = -0.615, P < 0.01; r = -0.648, P < 0.005; r = -0.679, P < 0.005). CONCLUSION: Ghrelin is involved in the regulation of growth and development of preterm and SGA children, regardless of the magnitude of their catch up growth. As a re-regulatory factor to insulin, ghrelin regulates the energy metabolism in a form of negative feedback.

[Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk].

OBJECTIVE: To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM. METHODS: MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province. RESULTS: Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. CONCLUSIONS: MS/MS can be used to screen and classify IEM.