1.Application and considerations of recombinant human growth hormone in treating growth disorders in children with chronic kidney disease.
Chinese Journal of Contemporary Pediatrics 2025;27(2):133-138
Growth disorders are one of the common complications of chronic kidney disease (CKD) in children, adversely affecting both the quality of life and survival time of CKD patients. Recombinant human growth hormone (rhGH) is an effective treatment for growth disorders in children with CKD. This article reviews the mechanisms underlying growth disorders in children with CKD, the therapeutic effects, safety, and precautions of rhGH, and long-term management of diagnosis and treatment of this disorder.
Humans
;
Human Growth Hormone/adverse effects*
;
Child
;
Recombinant Proteins/adverse effects*
;
Renal Insufficiency, Chronic/complications*
;
Growth Disorders/etiology*
2.Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene.
Xin MEI ; Xiao-Liang HE ; Wei-Na GAO ; Meng-Yao WANG ; Jing-Wen SHEN ; Jing WEI ; Yun XUE
Chinese Journal of Contemporary Pediatrics 2025;27(6):740-745
A 7-year-old girl was admitted to the hospital with rapidly progressive vision loss. Since 1 year of age, she had exhibited developmental delay accompanied by visual impairment and neutropenia. Combined with genetic testing and molecular pathogenicity analysis, she was diagnosed with Cohen syndrome (CS) caused by compound heterozygous variants in VPS13B (c.6940+1G>T and c.2911C>T). The c.6940+1G>T variant resulted in exon 38 skipping, leading to a frameshift and premature termination. Reverse transcription quantitative polymerase chain reaction revealed significantly reduced VPS13B gene expression (P<0.05). Bioinformatic analysis suggested that both variants likely produce truncated proteins. This case highlights that integrating clinical features with molecular pathogenicity assessment (DNA, RNA, and protein analysis) can improve early diagnostic accuracy for CS.
Humans
;
Female
;
Child
;
Vesicular Transport Proteins/genetics*
;
Developmental Disabilities/etiology*
;
Muscle Hypotonia/etiology*
;
Myopia/etiology*
;
Heterozygote
;
Intellectual Disability/etiology*
;
Microcephaly/etiology*
;
Obesity/genetics*
;
Growth Disorders/etiology*
;
Retinal Degeneration/genetics*
;
Psychomotor Disorders/genetics*
;
Fingers/abnormalities*
3.Correlation between serum ghrelin and liver-expressed antimicrobial peptide-2 with idiopathic short stature in children.
Qing LIU ; Wei-Chun ZHANG ; Bo CHEN ; Ya-Wen SONG
Chinese Journal of Contemporary Pediatrics 2024;26(12):1261-1266
OBJECTIVES:
To investigate the expression levels of ghrelin and liver-expressed antimicrobial peptide-2 (LEAP-2) in children with idiopathic short stature (ISS) to provide reference for further understanding the etiology of short stature.
METHODS:
A prospective study was conducted from December 2021 to October 2023, involving 46 children diagnosed with ISS (ISS group) and 46 healthy children with normal height (control group) at the First Affiliated Hospital of Shihezi University. General data and serum levels of ghrelin and LEAP-2 were compared between the two groups. The predictive value of these two indicators for ISS was evaluated using receiver operating characteristic (ROC) curve analysis.
RESULTS:
The serum level of ghrelin in the ISS group was higher than that in the control group, while the level of LEAP-2 was lower (P<0.05). The ratio of LEAP-2 to ghrelin was lower in the ISS group compared to the control group (P<0.05). Multivariate logistic regression analysis showed that HtSDS, IGF-1, ghrelin, LEAP-2, and the ratio of LEAP-2/ghrelin were independently associated with the occurrence of ISS (P<0.05). ROC curve analysis indicated that the AUCs for ghrelin, LEAP-2, the ratio of ghrelin to LEAP-2, and their combination in predicting ISS were all >0.8. The optimal cutoff values for ghrelin, LEAP-2, and the LEAP-2/ghrelin ratio were 5 607 pg/mL, 1 155 pg/mL, and 0.212, respectively. In children with ISS, ghrelin showed a negative correlation with chronological age, LEAP-2, and the LEAP-2/ghrelin ratio (P<0.05), while it was positively correlated with growth rate and peak growth hormone levels (P<0.05). LEAP-2 was negatively correlated with growth rate, peak growth hormone levels, and ghrelin (P<0.05), but positively correlated with chronological age and the LEAP-2/ghrelin ratio (P<0.05).
CONCLUSIONS
Ghrelin and LEAP-2 are correlated with the occurrence of ISS, which may provide references for the diagnosis and etiological analysis of children with ISS.
Humans
;
Ghrelin/blood*
;
Male
;
Child
;
Female
;
Prospective Studies
;
Child, Preschool
;
Growth Disorders/etiology*
;
Antimicrobial Cationic Peptides/blood*
;
Body Height
;
Adolescent
;
Insulin-Like Growth Factor I/analysis*
;
Blood Proteins
4.A comorbidity survey of growth retardation and obesity in Chinese children aged 7-12 years and analysis of influencing factors.
Shuai ZHANG ; Cheng-Yue LI ; Zhi-Dong ZHOU
Chinese Journal of Contemporary Pediatrics 2024;26(12):1275-1281
OBJECTIVES:
To investigate the changing trends and influencing factors for growth retardation-related obesity in Chinese children aged 7-12 years in 2010-2020, providing a basis for formulating physical health interventions for children.
METHODS:
The data of body height and body mass index were collected from 16 289 children aged 7-12 years in the China Family Panel Studies (CFPS) in 2010-2020, and the trends of growth retardation, obesity, and growth retardation-related obesity in 2010-2020 were analyzed and compared between different sexes and between urban and rural areas.
RESULTS:
From 2010 to 2020, the overall rates of growth retardation and growth retardation-related obesity among children aged 7-12 years in China showed a declining trend (P<0.05). By gender and urban-rural classification, the overall obesity rate from 2010 to 2020 showed an increasing trend in all groups except for the rural male and female children groups, the rural children group, and the female children group (P<0.05). The prevalence rates of growth retardation, obesity, and growth retardation-related obesity in male children were significantly higher than those in female children, and similarly, these indicators were also significantly higher in rural children compared to urban children (P<0.05). Urban/rural residence, age, sex, and year were influencing factors for growth retardation and growth retardation-related obesity in children aged 7-12 years (P<0.05).
CONCLUSIONS
The prevalence of growth retardation, obesity, and growth retardation-related obesity among Chinese children aged 7-12 years shows gender and urban-rural disparities, which highlights the needs for targeted interventions for boys and children in rural areas.
Child
;
Female
;
Humans
;
Male
;
Body Mass Index
;
China/epidemiology*
;
Comorbidity
;
East Asian People
;
Growth Disorders/etiology*
;
Rural Population/statistics & numerical data*
;
Pediatric Obesity/epidemiology*
5.Attaching great importance to the scientific assessment of short stature in children.
Chinese Journal of Contemporary Pediatrics 2023;25(11):1095-1100
Short stature is a common physical developmental abnormality in children. Without timely and accurate diagnosis, as well as early intervention, it can impose a heavy burden on the children and their families. There are numerous causes for short stature, and the diagnostic process essentially involves identifying its underlying causes. Based on a thorough understanding of the regular patterns of child physical development and the characteristics of individuals at high risk of short stature, a scientific definition of short stature needs to be established, along with standardized diagnostic and treatment protocols, to achieve early diagnosis or referral for short stature. Furthermore, it is necessary to enhance scientific awareness of short stature among parents and primary care pediatricians, in order to avoid over-treatment, missed diagnoses, and misdiagnoses arising from "misconceptions", and to improve the scientific assessment of short stature.
Humans
;
Child
;
Dwarfism/diagnosis*
;
Child Development
;
Parents
;
Body Height
;
Growth Disorders/etiology*
6.Hokkaido birth cohort study on environment and children's health: cohort profile 2021.
Reiko KISHI ; Atsuko IKEDA-ARAKI ; Chihiro MIYASHITA ; Sachiko ITOH ; Sumitaka KOBAYASHI ; Yu AIT BAMAI ; Keiko YAMAZAKI ; Naomi TAMURA ; Machiko MINATOYA ; Rahel Mesfin KETEMA ; Kritika POUDEL ; Ryu MIURA ; Hideyuki MASUDA ; Mariko ITOH ; Takeshi YAMAGUCHI ; Hisanori FUKUNAGA ; Kumiko ITO ; Houman GOUDARZI
Environmental Health and Preventive Medicine 2021;26(1):59-59
BACKGROUND:
The Hokkaido Study on Environment and Children's Health is an ongoing study consisting of two birth cohorts of different population sizes: the Sapporo cohort and the Hokkaido cohort. Our primary objectives are to (1) examine the effects that low-level environmental chemical exposures have on birth outcomes, including birth defects and growth retardation; (2) follow the development of allergies, infectious diseases, and neurobehavioral developmental disorders, as well as perform a longitudinal observation of child development; (3) identify high-risk groups based on genetic susceptibility to environmental chemicals; and (4) identify the additive effects of various chemicals, including tobacco.
METHODS:
The purpose of this report is to provide an update on the progress of the Hokkaido Study, summarize recent results, and suggest future directions. In particular, this report provides the latest details from questionnaire surveys, face-to-face examinations, and a collection of biological specimens from children and measurements of their chemical exposures.
RESULTS:
The latest findings indicate different risk factors of parental characteristics on birth outcomes and the mediating effect between socioeconomic status and children that are small for the gestational age. Maternal serum folate was not associated with birth defects. Prenatal chemical exposure and smoking were associated with birth size and growth, as well as cord blood biomarkers, such as adiponectin, leptin, thyroid, and reproductive hormones. We also found significant associations between the chemical levels and neuro development, asthma, and allergies.
CONCLUSIONS
Chemical exposure to children can occur both before and after birth. Longer follow-up for children is crucial in birth cohort studies to reinforce the Developmental Origins of Health and Disease hypothesis. In contrast, considering shifts in the exposure levels due to regulation is also essential, which may also change the association to health outcomes. This study found that individual susceptibility to adverse health effects depends on the genotype. Epigenome modification of DNA methylation was also discovered, indicating the necessity of examining molecular biology perspectives. International collaborations can add a new dimension to the current knowledge and provide novel discoveries in the future.
Biomarkers/blood*
;
Child
;
Child Health
;
Child, Preschool
;
Cohort Studies
;
Environmental Exposure/adverse effects*
;
Environmental Health
;
Environmental Pollutants/adverse effects*
;
Female
;
Fetal Blood/chemistry*
;
Follow-Up Studies
;
Growth/drug effects*
;
Humans
;
Hypersensitivity/etiology*
;
Infant
;
Japan/epidemiology*
;
Male
;
Neurodevelopmental Disorders/etiology*
;
Pregnancy
;
Prenatal Exposure Delayed Effects/etiology*
;
Prevalence
;
Smoking/adverse effects*
7.Intrauterine infection affects early growth and neurobehavioral development in neonatal rats.
Ying SHEN ; Yi SUN ; Weizhong GU ; Huimin YU ; Tianming YUAN
Journal of Zhejiang University. Medical sciences 2019;48(1):58-64
To explore the effects of intrauterine infection on early growth and neurobehavioral development in neonatal rats. (E. coli) was inoculated into uterine cervix of pregnant rats with gestation of 15 d to establish the intrauterine infection model, and the effect on the delivery of pregnant rats was observed. The neonatal rat brain tissue was stained with Hematoxylin-Eosin and the cerebral white matter damage was assessed. Immunohistochemical staining and Western blot analysis were performed to evaluate the expression of glial fibrillary acidic protein (GFAP), 2', 3'-cyclic nucleotide 3'-phosphodiesterase (CNPase) and neurofilament (NF) in pup brains. Birth weight and early growth development indices were monitored,and neurobehavioral tests were performed to access the change of neurobehavioral development in neonatal rats. The white blood cell count increased significantly in the uterus and placenta of the pregnant rats after intrauterine E. coli infection and no significant impact was observed on the delivery of pregnant rats. Weak staining and focal rarefaction of cerebral white matter from rats at P7 in intrauterine infection group were observed. The expression of GFAP markedly increased (<0.05) in infection group, while the level of CNPase and NF in pup brains at P7 significantly decreased (<0.05 or <0.01). Compared with control group, the neonatal rats in infection group had lower birth weight and slower weight gain during the suckling period (<0.05 or <0.01), and the completion times of ear opening, eye opening, surface righting, negative geotaxis, acoustic startle and swimming test in infection group were significantly delayed (<0.05 or <0.01). Intrauterine infection in pregnant rats can induce cerebral white matter damage and retardation of early growth and neurobehavioral development in neonatal rats.
Animals
;
Animals, Newborn
;
Behavior, Animal
;
Body Weight
;
Disease Models, Animal
;
Escherichia coli
;
Escherichia coli Infections
;
complications
;
physiopathology
;
Female
;
Glial Fibrillary Acidic Protein
;
genetics
;
Growth Disorders
;
etiology
;
Leukoencephalopathies
;
etiology
;
Pregnancy
;
Pregnancy Complications, Infectious
;
physiopathology
;
Rats
;
Rats, Sprague-Dawley
8.The influences of anterior disc displacement on oral mandibular function and morphology and their biological mechanisms.
Chinese Journal of Stomatology 2016;51(3):182-184
Anterior disc displacement is a common subtype seen in temporomandibular disorders (TMD) patients. It may cause mandibular movement disorders, such as clicking of joint, intermittent closed lock, limitation of mouth opening, etc. These disorders may affect the life qualities of patients. Anterior disc displacement may also cause mandibular malformations, especially among adolescents, which may affect the growth of condyle, therefore may have a correlation with mandibular retrusion or mandibular deviation when grown up. This paper going to review the influences of anterior disc displacement on oral mandibular function and morphology and their biological mechanisms.
Adolescent
;
Humans
;
Mandible
;
abnormalities
;
pathology
;
Mandibular Condyle
;
growth & development
;
Mandibular Diseases
;
etiology
;
Movement
;
Retrognathia
;
etiology
;
Temporomandibular Joint Disorders
;
etiology
;
physiopathology
10.Characteristics of R bone age, C bone age, and T bone age in children with different causes of short stature based on Tanner and Whitehouse skeletal age assessment system 2.
Yun-Pu CUI ; Ming-Tao ZHANG ; Xin-Li WANG
Chinese Journal of Contemporary Pediatrics 2015;17(5):464-468
OBJECTIVETo study the characteristics of R bone age, C bone age, and T bone age in children with different causes of short stature based on the Tanner and Whitehouse skeletal age assessment system 2 (TW2), and to provide a reference for the etiological diagnosis of short stature.
METHODSThree hundred and sixty-three children with previously untreated short stature were classified into four groups according to the causes: growth hormone deficiency (GHD; 27 cases), idiopathic short stature (ISS; 280 cases), small for gestational age (SGA; 41 cases), and Turner syndrome (TS; 15 cases). The X-ray films of their left hand-wrist bones were taken to determine the bone age. R bone age, C bone age, and T bone age were assessed by the TW2 method and compared with their chronological age (CA).
RESULTSR bone age, C bone age, and T bone age were over 2 years less than CA in both boys and girls from the GHD group. In the ISS group, R bone age, C bone age, and T bone age were about 1 year less than CA in boys, while there were no significant differences between the bone ages and CA in girls. In the SGA group, there were no significant differences between the bone ages and CA in either boys or girls. In the TS group, R bone age and T bone age were significantly lower than CA, while there was no significant difference between C bone age and CA.
CONCLUSIONSThe children with different causes of short stature have different characteristics of R bone age, C bone age, and T bone age assessed by the TW2 method. The assessment of R bone age, C bone age, and T bone age by the TW2 method is helpful for the etiological diagnosis of short stature in children.
Adolescent ; Age Determination by Skeleton ; Body Height ; Child ; Female ; Growth Disorders ; diagnosis ; etiology ; Humans ; Male

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